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Gene: Htr3a MGI:96282

Gene Summary

Name:

5-hydroxytryptamine (serotonin) receptor 3A

Synonyms:

5-HT3 receptor

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
hypoalgesia		Htr3a^em1.1(IMPC)J	HOM		Early adult	4.10×10^-06 *

Download data as: TSV XLS

* Significant with a threshold of 1x10^-3, check the Pain Sensitivity page for more information.

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Viewing: all phenotypes

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Viewing: all phenotypes

* Significant with a threshold of 1x10^-3, check the Pain Sensitivity page for more information.

X-ray

XRay Images Skull Dorso Ventral Orientation

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Htr3a 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 Htr3a (0 diseases)
Human diseases predicted to be associated with Htr3a (1392 diseases)

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

The table below shows human diseases predicted to be associated to Htr3a by phenotypic similarity.

Disease	Matching phenotypes	Source
Enuresis, Nocturnal, 1	Enuresis nocturna	OMIM:600631
Enuresis, Nocturnal, 2	Enuresis nocturna	OMIM:600808
Urofacial Syndrome 2	Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro...	OMIM:615112
Posterior Urethral Valve	Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre...	ORPHA:93110
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Renal tubular cyst, Glycosuria, Elevated circulating creatinine concentration, ...	OMIM:614817
Renal Dysplasia	Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Urofacial Syndrome 1	Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Cryptorchidism, Hydronephr...	OMIM:236730
Xanthinuria, Type I	Hypouricemia, Pyelonephritis, Xanthine nephrolithiasis, Myopathy, Hydronephrosis, Xanthinuria, Hy...	OMIM:278300
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Failure to thrive, Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicouret...	OMIM:191800
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Elevated circulating acylcarnitine concentration, Red-brown urine, Exercise intolerance, Muscle f...	ORPHA:228302
Ochoa Syndrome	Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie...	ORPHA:2704
Renal Failure, Progressive, With Hypertension	Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i...	OMIM:161900
Igg4-Related Kidney Disease	Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urethriti...	ORPHA:449395
Adrenomyodystrophy	Abnormality of the urinary system, Failure to thrive, Megacystis, Primary adrenal insufficiency, ...	ORPHA:977
Iga Nephropathy, Susceptibility To, 2	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur...	OMIM:613944
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Abnormal urinary electrolyte concentration, Hepatosplenomegaly, Myopathy, Weight los...	ORPHA:85450
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Nephritis, Unilateral renal atrophy, Pyelonephritis, Cryptorchidism, Torticollis, Oligozoospermia...	OMIM:314300
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Hyperuricemia, Renal ...	OMIM:603860
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Nephritis, Arthralgia, Arthritis	OMIM:216950
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Nephronophthisis 18	Thickened glomerular basement membrane, Nephronophthisis, Stage 5 chronic kidney disease, Tubuloi...	OMIM:615862
Spastic Paraplegia 13, Autosomal Dominant	Urinary incontinence, Urinary urgency, Lower limb muscle weakness, Urinary bladder sphincter dysf...	OMIM:605280
Spastic Paraplegia 12, Autosomal Dominant	Urinary incontinence, Urinary urgency, Lower limb muscle weakness, Urinary bladder sphincter dysf...	OMIM:604805
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Recurrent urinary tract infections, Fetal pyelectasis, Megacystis, Nephrolithiasis	OMIM:619365
Lipoprotein Glomerulopathy	Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity	OMIM:611771
Spastic Paraplegia 19, Autosomal Dominant	Urinary incontinence, Urinary urgency, Lower limb muscle weakness, Urinary bladder sphincter dysf...	OMIM:607152
Spastic Paraplegia 41, Autosomal Dominant	Urinary urgency	OMIM:613364
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Hydronephrosis, Duplicated collecting system	OMIM:163850
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Failure to thrive, Hypernatremia, Polyuria, Megacystis	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Failure to thrive, Hypernatremia, Polyuria, Megacystis	OMIM:304800
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Urethral obstruction, Renal hypoplasia, Urinary bladder wall hypertrophy, Autoimmune thrombocytop...	OMIM:601389
Nephrotic Syndrome, Type 7	Thickened glomerular basement membrane, Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kid...	OMIM:615008
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal insufficiency, ...	OMIM:610984
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Prolinuria, Hyperprolinemia	ORPHA:419
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency	Urinary bladder sphincter dysfunction	ORPHA:284282
Microsporidiosis	Lymphadenitis, Urethritis, Abnormality of the spleen, Abnormality of the urinary system physiolog...	ORPHA:2552
Endove Syndrome, Limb-Brain Type	Failure to thrive, Recurrent urinary tract infections, Osteomyelitis, Hydronephrosis, Neurogenic ...	OMIM:619218
Spastic Paraplegia 36, Autosomal Dominant	Urinary incontinence, Urinary urgency, Lower limb muscle weakness	OMIM:613096
Autosomal Dominant Spastic Paraplegia Type 13	Urinary incontinence, Urinary urgency, Lower limb muscle weakness, Urinary bladder sphincter dysf...	ORPHA:100994
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, E...	OMIM:174000
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Minimal change glomerulonephritis, Podocyte foot process effacement, Proteinuria, Colitis, Impair...	OMIM:617006
Spastic Paraplegia 8, Autosomal Dominant	Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Low back pain, Urinary inconti...	OMIM:603563
Spastic Paraplegia 37, Autosomal Dominant	Urinary incontinence, Urinary urgency	OMIM:611945
Iga Nephropathy, Susceptibility To, 1	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur...	OMIM:161950
Intellectual Developmental Disorder, X-Linked 29	Urinary incontinence, Testicular dysgenesis	OMIM:300419
Atresia Of Urethra	Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency...	ORPHA:105
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic aciduria, Failure to thrive, Leukopenia, Stage 5 chronic kidney disease, Hyperglyci...	OMIM:251000
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Increased variability in muscle fiber diameter, Muscular dystrophy, Keratitis, Urethral stricture...	OMIM:226670
Senior-Loken Syndrome 9	Nephronophthisis, Hypogonadism, Obesity, Stage 5 chronic kidney disease, Tubulointerstitial nephr...	OMIM:616629
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:614199
Spastic Paraplegia 3, Autosomal Dominant	Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Distal lower limb amyotrophy, ...	OMIM:182600
Spastic Paraplegia 6, Autosomal Dominant	Urinary incontinence, Urinary urgency, Lower limb muscle weakness, Urinary bladder sphincter dysf...	OMIM:600363
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Abnormal glomerular mesangium morphology, Elevated circulating creatinine co...	ORPHA:567544
Spastic Paraplegia 27, Autosomal Recessive	Spastic/hyperactive bladder	OMIM:609041
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ...	OMIM:602088
Granulomatosis With Polyangiitis	Hematuria, Prostatitis, Arthralgia, Weight loss, Inflammatory abnormality of the eye, Abdominal p...	ORPHA:900
Intellectual Developmental Disorder, X-Linked 112	Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Pyelonephritis, Ve...	OMIM:301111
Glomerulopathy With Fibronectin Deposits 2	Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis...	OMIM:601894
Siddiqi Syndrome	Urinary incontinence, Flexion contracture, Lower limb amyotrophy	OMIM:618635
Spastic Paraplegia 18A, Autosomal Dominant	Urinary incontinence, Upper limb muscle weakness, Lower limb muscle weakness	OMIM:620512
Adult Polyglucosan Body Disease	Urinary incontinence, Neurogenic bladder, Urinary bladder sphincter dysfunction	ORPHA:206583
Nephrotic Syndrome, Type 23	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti...	OMIM:619201
Autosomal Dominant Spastic Paraplegia Type 73	Distal lower limb muscle weakness, Urinary incontinence, Distal lower limb amyotrophy, Urinary ur...	ORPHA:444099
Epidermolysis Bullosa, Junctional 5A, Intermediate	Urethral stenosis	OMIM:619816
Spastic Paraplegia, Ataxia, And Impaired Intellectual Development	Urinary incontinence, Urinary urgency, Lower limb muscle weakness, Urinary bladder sphincter dysf...	OMIM:607565
Hand-Foot-Genital Syndrome	Uterus didelphys, Bifid scrotum, Pyelonephritis, Renal insufficiency, Ureteropelvic junction obst...	OMIM:140000
X-Linked Spastic Paraplegia Type 16	Functional abnormality of the bladder	ORPHA:100997
Immunodeficiency, Common Variable, 6	Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor...	OMIM:613496
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi...	ORPHA:617
Drug Reaction With Eosinophilia And Systemic Symptoms	Hepatitis, Renal insufficiency, Skin rash, Interstitial pneumonitis, Infectious encephalitis, Pus...	ORPHA:139402
Foix-Alajouanine Syndrome	Myelitis, Functional abnormality of the bladder, Urinary retention, Lower limb muscle weakness, M...	ORPHA:79093
Autosomal Recessive Spastic Paraplegia Type 48	Urinary incontinence, Elevated circulating creatine kinase concentration, Lower limb muscle weakn...	ORPHA:306511
Silver-Russell Syndrome 1	Decreased response to growth hormone stimulation test, Abnormality of the ureter, Nephroblastoma,...	OMIM:180860
Spastic Paraplegia 10, Autosomal Dominant	Upper limb muscle weakness, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Ur...	OMIM:604187
Peroxisome Biogenesis Disorder 10B	Nephrocalcinosis, Neurogenic bladder	OMIM:617370
Primary Membranoproliferative Glomerulonephritis	Chronic kidney disease, Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kidney disease, Ren...	ORPHA:54370
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Red-brown urine, Exercise intolerance, Stage 5 ...	ORPHA:157
Autosomal Dominant Spastic Paraplegia Type 36	Urinary incontinence, Urinary urgency, Arthritis	ORPHA:320365
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ...	OMIM:614376
Glomerulopathy With Fibronectin Deposits 1	Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency...	OMIM:137950
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Peritonitis, Fetal megacystis	OMIM:619351
Lymphatic Filariasis	Urethral obstruction, Lymphadenitis, Hypereosinophilia, Abnormal scrotum morphology, Pain, Orchit...	ORPHA:2035
Lead Poisoning	Chronic kidney disease, Imbalanced hemoglobin synthesis, Increased LDL cholesterol concentration,...	ORPHA:330015
Wolfram Syndrome 1	Hydroureter, Sideroblastic anemia, Hydronephrosis, Neurogenic bladder, Megaloblastic anemia, Hypo...	OMIM:222300
Polyglucosan Body Neuropathy, Adult Form	Urinary incontinence, Neurogenic bladder	OMIM:263570
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Failure to thrive, Hyperechogenic kidneys, Hypomagnesemia, Pancytopenia, ...	OMIM:613845
Hemangioblastoma	Trigeminal neuralgia, Neurogenic bladder, Upper limb muscle weakness, Lower limb muscle weakness	ORPHA:252054
Nephrotic Syndrome, Type 15	Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5...	OMIM:617609
Spastic Paraplegia 4, Autosomal Dominant	Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Low back pain, Urinary inconti...	OMIM:182601
Spastic Paraplegia 16, X-Linked	Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Facial hypotonia, Lower limb a...	OMIM:300266
3-Methylglutaconic Aciduria Type 9	Urinary incontinence, Slender build, Failure to thrive, 3-Methylglutaconic aciduria	ORPHA:505216
Nephrotic Syndrome, Type 16	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria	OMIM:617783
Igg4-Related Retroperitoneal Fibrosis	Rheumatoid arthritis, Psoriasiform dermatitis, Hematuria, Flank pain, Weight loss, Retrograde eja...	ORPHA:49041
Renal Hypodysplasia/Aplasia 3	Multicystic kidney dysplasia, Renal agenesis, Abnormality of the uterus, Horseshoe kidney, Vesico...	OMIM:617805
Mitochondrial Complex I Deficiency, Nuclear Type 27	Neurogenic bladder	OMIM:618248
Thyrocerebrorenal Syndrome	Abnormality of the musculature of the limbs, Nephritis, Renal insufficiency, Thrombocytopenia	ORPHA:3327
2p15-16.1 microdeletion syndrome	Hydronephrosis, Camptodactyly of finger	DECIPHER:70
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria	ORPHA:2820
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:256020
Webb-Dattani Syndrome	Decreased response to growth hormone stimulation test, Obesity, Vesicoureteral reflux, Cryptorchi...	OMIM:615926
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Abnormal T cell count, Recurrent urinary tract infections, Recurrent otitis media, Pyo...	OMIM:307200
Birk-Landau-Perez Syndrome	Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Failure to thrive in in...	OMIM:617595
Majeed Syndrome	Acne, Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Myalgia, Leukocytos...	ORPHA:77297
Diencephalic Syndrome	Cachexia, Long penis, Hyperhidrosis, Decreased body weight	ORPHA:1672
Prune Belly Syndrome	Multicystic kidney dysplasia, Hydroureter, Failure to thrive, Abnormality of the uterus, Recurren...	ORPHA:2970
Eosinophilic Granulomatosis With Polyangiitis	Myocarditis, Myalgia, Renal insufficiency, Skin rash, Hematuria, Proteinuria, Myositis, Glomerulo...	ORPHA:183
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ...	ORPHA:37042
Combined Oxidative Phosphorylation Deficiency 9	Tubulointerstitial nephritis, Hyperalaninemia, Failure to thrive	OMIM:614582
Lower Urinary Tract Obstruction, Congenital	Vesicoureteral reflux, Urinary incontinence, Pollakisuria, Congenital posterior urethral valve, U...	OMIM:618612
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria...	OMIM:616002
Autosomal Dominant Spastic Paraplegia Type 6	Urinary incontinence, Skeletal muscle atrophy	ORPHA:100988
Atypical Hemolytic Uremic Syndrome	Acute kidney injury, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocytopenia	ORPHA:2134
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Aminoaciduria, Proximal tubulopathy, Failure to thrive, Cachexia, Weight loss	OMIM:612075
Focal Segmental Glomerulosclerosis 6	Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,...	OMIM:614131
Fowler Urethral Sphincter Dysfunction Syndrome	Acne, Abnormality of the urethra, Urinary retention, Abnormality of the ovary, Polycystic ovaries...	ORPHA:2795
Hereditary Renal Hypouricemia	Chronic kidney disease, Hypouricemia, Acute kidney injury, Postexertional symptom exacerbation, D...	ORPHA:94088
Porphyria Variegata	Chronic kidney disease, Proximal muscle weakness in upper limbs, Chest pain, Increased urinary po...	ORPHA:79473
Familial Visceral Myopathy	Hyperparathyroidism, Hydroureter, Megacystis, Camptodactyly of finger, Vesicoureteral reflux, Apl...	ORPHA:2604
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Gout, Hyperuri...	OMIM:162000
Ring Chromosome 8 Syndrome	Hydronephrosis, Abnormality of the ureter	ORPHA:1450
Cerebroretinal Microangiopathy With Calcifications And Cysts 3	Urinary incontinence	OMIM:620368
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612925
Spastic Paraplegia 76, Autosomal Recessive	Urinary incontinence, Skeletal muscle atrophy, Lower limb muscle weakness	OMIM:616907
Nail-Patella-Like Renal Disease	Proteinuria, Microscopic hematuria, Renal insufficiency, Glomerulopathy	ORPHA:2613
Pauci-Immune Glomerulonephritis	Acute kidney injury, Arteritis, Elevated circulating creatinine concentration, Decreased glomerul...	ORPHA:93126
Preeclampsia/Eclampsia 1	Proteinuria, Thrombocytopenia	OMIM:189800
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Interosseus muscle atrophy, Distal lower limb amyotrophy, Distal lower limb muscle weakness, Neur...	OMIM:500013
Autosomal Recessive Cutis Laxa Type 1	Recurrent pneumonia, Multiple bladder diverticula, Urethral diverticulum, Recurrent urinary tract...	ORPHA:90349
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612926
Lipodystrophy, Partial, Acquired, Susceptibility To	Abnormal circulating lipid concentration, Polycystic ovaries, Proteinuria, Hematuria, Membranopro...	OMIM:608709
Multiple Sclerosis, Susceptibility To	Urinary incontinence, Urinary hesitancy	OMIM:126200
Congenital Disorder Of Glycosylation, Type Iii	Neurogenic bladder	OMIM:613612
Listeriosis	Arteritis, Abscess, Rhabdomyolysis, Pustule, Arthralgia, Abdominal pain, Endocarditis, Acute kidn...	ORPHA:533
Glutathionuria	Urinary incontinence, Eczematoid dermatitis, Glutathionuria	OMIM:231950
Autosomal Recessive Frontotemporal Pachygyria	Urinary incontinence	ORPHA:329329
Adult-Onset Distal Myopathy Due To Vcp Mutation	Rimmed vacuoles, Necrotizing myopathy, Mildly elevated creatine kinase, Myalgia, Facial diplegia,...	ORPHA:329478
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Hydronephrosis, Abnormality of the urinary system	ORPHA:2669
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:616032
Lysinuric Protein Intolerance	Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, G...	ORPHA:470
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Proteinuria, Tubulointerstitial nephritis	OMIM:616901
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:301028
X-Linked Adrenoleukodystrophy	Leg muscle stiffness, Urinary bladder sphincter dysfunction, Abnormality of adrenal physiology, A...	ORPHA:43
Duplication Of Urethra	Clitoral hypertrophy, Urinary bladder wall hypertrophy, Urethral stricture, Chordee, Urinary inco...	ORPHA:237
Nephrotic Syndrome, Type 17	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:618176
Spastic Paraplegia 11, Autosomal Recessive	Skeletal muscle atrophy, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Obesi...	OMIM:604360
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612924
Renal Caliceal Diverticuli-Deafness Syndrome	Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ...	ORPHA:2838
Spastic Paraplegia 5A, Autosomal Recessive	Abnormal circulating cholesterol concentration, Upper limb muscle weakness, Lower limb muscle wea...	OMIM:270800
Spinocerebellar Ataxia 48	Urinary incontinence, Cachexia	OMIM:618093
Drug-Induced Lupus Erythematosus	Myalgia, Malar rash, Elevated circulating creatine kinase concentration, Hematuria, Arthralgia, C...	ORPHA:231111
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hyperlipidem...	OMIM:600995
Charcot-Marie-Tooth Disease, Type 4B3	Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness, Distal lower lim...	OMIM:615284
Spastic Ataxia 3, Autosomal Recessive	Neurogenic bladder, Urinary urgency	OMIM:611390
3-Methylglutaconic Aciduria, Type Ix	Urinary incontinence, 3-Methylglutaric aciduria, Failure to thrive, 3-Methylglutaconic aciduria	OMIM:617698
Iga Nephropathy, Susceptibility To, 3	IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro...	OMIM:616818
Hematuria, Benign Familial, 2	Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria	OMIM:620320
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote...	OMIM:603965
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydronephrosis, Hydroureter, Megacystis	OMIM:619431
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Urinary incontinence, Osteomyelitis, Episodic hyperhidrosis	OMIM:613115
Spastic Paraplegia 85, Autosomal Recessive	Urinary incontinence, Generalized amyotrophy, Lower limb muscle weakness, Torticollis	OMIM:619686
Visceral Myopathy 1	Urinary retention, Megacystis, Vesicoureteral reflux, Hydronephrosis, Pancreatitis, Abdominal pain	OMIM:155310
Autosomal Dominant Spastic Paraplegia Type 8	Peroneal muscle atrophy, Urinary incontinence, Urinary urgency, Lower limb muscle weakness	ORPHA:100989
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Increased variability in muscle fiber diameter, Neurogenic bladder, Type 2 muscle fiber predomina...	OMIM:619173
Myopathy, Myofibrillar, 7	Enuresis nocturna, Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle...	OMIM:617114
Visceral Myopathy 2	Esophagitis, Necrotizing enterocolitis, Megacystis	OMIM:619350
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Chronic kidney disease, Failure to thrive in infancy, Decreased glomerular filtration rate, Prote...	ORPHA:488627
Autosomal Dominant Spastic Paraplegia Type 12	Male sexual dysfunction, Lower limb muscle weakness, Female sexual dysfunction, Urinary urgency, ...	ORPHA:100993
Autosomal Recessive Spastic Paraplegia Type 27	Spastic/hyperactive bladder	ORPHA:101007
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Red-brown urine, Dicarboxylic aciduria, Decreas...	ORPHA:228308
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Distal lower limb amyotrophy,...	OMIM:614455
Nephrotic Syndrome, Type 9	Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Stage ...	OMIM:615573
Macdermot-Winter Syndrome	Hydronephrosis, Hypoplastic male external genitalia, Camptodactyly of finger	OMIM:247990
Nephrotic Syndrome, Type 6	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, Stage 5 c...	OMIM:614196
Spastic Paraplegia 48, Autosomal Recessive	Urinary incontinence, Lower limb muscle weakness	OMIM:613647
Leukodystrophy, Progressive, Early Childhood-Onset	Neurogenic bladder, Joint contracture	OMIM:617762
Sandhoff Disease, Juvenile Form	Urinary incontinence, Limb joint contracture, Skeletal muscle atrophy, Failure to thrive	ORPHA:309162
3-Methylglutaconic Aciduria, Type I	Urinary incontinence, Failure to thrive, 3-Methylglutaconic aciduria	OMIM:250950
Autosomal Recessive Spastic Paraplegia Type 77	Detrusor sphincter dyssynergia, Bilateral cryptorchidism, Neurogenic bladder, Urinary incontinenc...	ORPHA:466722
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos...	OMIM:308990
Myh9-Related Disease	Nephropathy, Nephritis, Giant platelets, Renal insufficiency, Proteinuria, Congenital thrombocyto...	ORPHA:182050
Autosomal Recessive Spastic Paraplegia Type 46	Abnormal tendon morphology, Decreased testicular size, Infertility, Abnormal sperm head morpholog...	ORPHA:320391
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis	OMIM:613913
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Neurogenic bladder	OMIM:615911
Agammaglobulinemia, X-Linked	Recurrent pneumonia, Bronchiectasis, Recurrent urinary tract infections, Recurrent otitis media, ...	OMIM:300755
Coenzyme Q10 Deficiency, Primary, 3	Proteinuria, Decreased level of coenzyme Q10 in skeletal muscle, Nephrotic syndrome, Hypoalbuminemia	OMIM:614652
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Tubulointerstitial nephritis, Camptodactyly, Enuresis, Abnormality of the kidney	ORPHA:459061
Recessive Dystrophic Epidermolysis Bullosa Inversa	Abnormality of the urinary system, Vaginal stricture, Urethral stricture, Gastrointestinal inflam...	ORPHA:79409
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E...	ORPHA:84085
Acquired Partial Lipodystrophy	Myopathy, Proteinuria, Glomerulopathy, Arthralgia, Lymphocytosis, Microscopic hematuria	ORPHA:79087
Focal Segmental Glomerulosclerosis 1	Focal segmental glomerulosclerosis, Hypoalbuminemia, Hyperechogenic kidneys, Stage 5 chronic kidn...	OMIM:603278
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal...	OMIM:611555
Hereditary Xanthinuria	Hypouricemia, Decreased urinary urate, Acute kidney injury, Rheumatoid arthritis, Recurrent urina...	ORPHA:3467
Lecithin:Cholesterol Acyltransferase Deficiency	Renal insufficiency, Hypertriglyceridemia, Proteinuria, Decreased HDL cholesterol concentration, ...	OMIM:245900
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Multicystic kidney dysplasia, Hydroureter, Cryptorchidism, Megacystis	ORPHA:2241
Amyloidosis, Hereditary Systemic 2	Nephropathy, Renal amyloidosis, Skin rash, Splenomegaly, Proteinuria, Hematuria, Nephrotic syndrome	OMIM:105200
Intellectual Developmental Disorder, Autosomal Recessive 70	Urinary incontinence	OMIM:618402
X-Linked Intellectual Disability, Schimke Type	Ankle flexion contracture, Elbow flexion contracture, Failure to thrive in infancy, Vesicouretera...	ORPHA:85285
C3 Glomerulopathy	Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Elevated...	ORPHA:329918
Autosomal Dominant Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus...	ORPHA:169189
Pelizaeus-Merzbacher Disease In Female Carriers	Neurogenic bladder, Abnormality of the lower urinary tract	ORPHA:280229
Baralle-Macken Syndrome	Urinary incontinence, Obesity	OMIM:619255
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Neurogenic bladder	OMIM:619780
Autosomal Dominant Spastic Paraplegia Type 4	Urinary urgency, Urinary bladder sphincter dysfunction	ORPHA:100985
Autoinflammatory-Pancytopenia Syndrome	Granuloma, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, Chilblains, Int...	OMIM:619858
Amyotrophic Lateral Sclerosis 5, Juvenile	Urinary incontinence, Distal amyotrophy	OMIM:602099
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency	OMIM:607832
Autosomal Recessive Spastic Paraplegia Type 78	Neurogenic bladder, Facial myokymia	ORPHA:513436
Scalp-Ear-Nipple Syndrome	Duplication of renal pelvis, Recurrent urinary tract infections, Pyelonephritis, Hypohidrosis, Ab...	ORPHA:2036
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema...	OMIM:613237
Image Syndrome	Hydronephrosis, Hypospadias, Cryptorchidism, Hypogonadism	ORPHA:85173
Glycogen Storage Disease X	Exercise intolerance, Renal insufficiency, Rhabdomyolysis, Myopathy, Elevated circulating creatin...	OMIM:261670
Tubulointerstitial Nephritis And Uveitis Syndrome	Scleritis, Flank pain, Arthralgia, Weight loss, Tubulointerstitial nephritis, Abdominal pain, Ele...	ORPHA:91500
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Hyperphosphatemia, Decreased body weight, Hematuria, Glomerulonephritis, ...	ORPHA:340
Hardikar Syndrome	Hypoplasia of the bladder, Hydroureter, Failure to thrive, Recurrent urinary tract infections, Py...	OMIM:301068
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity	Urinary incontinence, Distal amyotrophy	ORPHA:352641
Congenital Anomalies Of Kidney And Urinary Tract 3	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki...	OMIM:618270
Spastic Paraplegia 46, Autosomal Recessive	Urinary incontinence, Infertility, Limb muscle weakness, Lower limb muscle weakness	OMIM:614409
Lymphatic Malformation 1	Urethral stricture, Hydrocele testis	OMIM:153100
Maternal Uniparental Disomy Of Chromosome 4	Limb-girdle muscular dystrophy, Hypocholesterolemia, Abnormal erythrocyte morphology, Acanthocyto...	ORPHA:96180
22Q11.2 Duplication Syndrome	Hydronephrosis, Urethral stenosis, Displacement of the urethral meatus	ORPHA:1727
Paternal Uniparental Disomy Of Chromosome 1	Anhidrosis, Obesity, Proteinuria, Episodic hemolytic anemia, Increased blood urea nitrogen, Membr...	ORPHA:251004
Spastic Paraplegia 83, Autosomal Recessive	Urinary urgency	OMIM:619027
Sjogren Syndrome	Tubulointerstitial nephritis, Rheumatoid arthritis, Xerostomia, Keratoconjunctivitis sicca	OMIM:270150
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Microangiopathic hemolytic anemia, Renal insufficiency, Reticulocytosis, Hem...	ORPHA:54057
Amyotrophic Dystonic Paraplegia	Urinary incontinence, Skeletal muscle atrophy, Bowel incontinence	OMIM:105300
Spastic Paraplegia 7, Autosomal Recessive	Upper limb muscle weakness, Upper limb hypertonia, Lower limb muscle weakness, Urinary bladder sp...	OMIM:607259
Brain-Lung-Thyroid Syndrome	Recurrent pneumonia, Failure to thrive, Megacystis, Congenital hypothyroidism, Vesicoureteral ref...	ORPHA:209905
Fibronectin Glomerulopathy	Hypoalbuminemia, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glom...	ORPHA:84090
Alkaptonuria	Aminoaciduria, Elevated urinary homogentisic acid, Dark urine, Thickened Achilles tendon, Nephrol...	ORPHA:56
Basal Ganglia Calcification, Idiopathic, 1	Urinary incontinence, Abnormal circulating calcium concentration	OMIM:213600
Systemic Lupus Erythematosus	Nephritis, Leukopenia, Malar rash, Lupus nephritis, Arthritis, Thrombocytopenia, Hemolytic anemia...	OMIM:152700
Prune Belly Syndrome	Xerostomia, Hydroureter, Cryptorchidism, Hydronephrosis, Aplasia of the abdominal wall musculatur...	OMIM:100100
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio...	OMIM:143400
Lymphedema-Distichiasis Syndrome	Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopathy, Tubulointerst...	ORPHA:33001
Cog5-Cdg	Joint contracture of the hand, Camptodactyly of finger, Hepatosplenomegaly, Cryptorchidism, Neuro...	ORPHA:263487
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Distal amyotrophy, Foot dorsiflexor weakness, Intrinsic hand muscle atrophy, Urinary incontinence...	OMIM:616688
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Neurogenic bladder, Multiple joint contractures	ORPHA:466934
Unilateral Focal Polymicrogyria	Urinary incontinence	ORPHA:268947
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,...	OMIM:310468
Glycogen Storage Disease Xi	Exercise intolerance, Myalgia, Renal insufficiency, Rhabdomyolysis, Elevated circulating creatine...	OMIM:612933
Trisomy 17P	Skeletal muscle atrophy, Hydronephrosis, Macroglossia, Flexion contracture, Urethral valve, Polyc...	ORPHA:261290
Wolfram Syndrome 2	Neurogenic bladder, Oligomenorrhea, Primary amenorrhea	OMIM:604928
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Urinary incontinence	OMIM:620094
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Distal amyotrophy, Denervation of the diaphragm, Failure to thrive, Camptodactyly of finger, Limb...	OMIM:604320
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Glomerular bas...	OMIM:609057
Thyrocerebroretinal Syndrome	Nephritis, Skeletal muscle atrophy, Thrombocytopenia	OMIM:274240
Alport Syndrome 3B, Autosomal Recessive	Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur...	OMIM:620536
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane...	OMIM:104200
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Urinary incontinence, Urinary urgency	OMIM:612319
Spastic Paralysis, Infantile-Onset Ascending	Urinary incontinence, Achilles tendon contracture	OMIM:607225
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Neurogenic bladder	ORPHA:572013
Galloway-Mowat Syndrome 8	Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hematuria, P...	OMIM:618349
Spastic Paraplegia 29, Autosomal Dominant	Neonatal hyperbilirubinemia, Urinary hesitancy, Nocturia, Urinary incontinence, Urinary urgency	OMIM:609727
Hydrocephalus, Normal-Pressure, 1	Urinary incontinence, Bowel incontinence	OMIM:236690
Neuronal Intranuclear Inclusion Disease	Urinary incontinence	OMIM:603472
Adenine Phosphoribosyltransferase Deficiency	Chronic kidney disease, Acute kidney injury, Oliguria, Abdominal colic, Urinary retention, Recurr...	ORPHA:976
Adrenoleukodystrophy	Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Hypogonadism, Primary adrenal ...	OMIM:300100
Spastic Paraplegia 72A, Autosomal Dominant	Urinary bladder sphincter dysfunction	OMIM:615625
Cholestasis, Progressive Familial Intrahepatic, 12	Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Proteinuria, Conjugate...	OMIM:620010
Anti-Glomerular Basement Membrane Disease	Chest pain, Myalgia, Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Arthralgia, Art...	ORPHA:375
Junctional Epidermolysis Bullosa With Pyloric Atresia	Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Renal duplication, Hematuria, ...	ORPHA:79403
Spinocerebellar Ataxia 42	Urinary incontinence, Urinary urgency	OMIM:616795
Preeclampsia	Chronic kidney disease, Acute kidney injury, Elevated circulating creatinine concentration, Epiga...	ORPHA:275555
Reni Syndrome	Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Hypogo...	OMIM:617575
Leukodystrophy, Hypomyelinating, 12	Flexion contracture, Neurogenic bladder	OMIM:616683
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Duplicated collecting system, Blepharitis, Hydroureter, Ureterocele, Megacystis, Renal agenesis, ...	OMIM:604292
Isolated Epispadias	Vesicoureteral reflux, Anteriorly displaced urethral meatus, Bifid clitoris, Urinary incontinence...	ORPHA:93928
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Skeletal muscle atrophy, Dicarboxylic aciduria, Hyperammo...	ORPHA:42
Patent Urachus	Recurrent urinary tract infections, Cystocele, Pelvic pain, Abdominal pain, Patent urachus, Conge...	ORPHA:431341
Familial Mediterranean Fever, Autosomal Dominant	Renal amyloidosis, Erysipelas, Chest pain, Renal insufficiency, Proteinuria, Peritonitis, Arthral...	OMIM:134610
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Urinary incontinence	OMIM:249900
Spastic Paraplegia 15, Autosomal Recessive	Distal amyotrophy, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Urinary inc...	OMIM:270700
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Glomerulonephritis	OMIM:247800
Melioidosis	Pneumonia, Brain abscess, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, Abnormalit...	ORPHA:31202
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Abnormal renal physiology, Elevated circulating creatinine con...	OMIM:274150
Megabladder, Congenital	Fetal megacystis, Stage 5 chronic kidney disease, Multiple glomerular cysts, Hyperechogenic kidneys	OMIM:618719
Syringomyelia, Noncommunicating Isolated	Urinary incontinence, Neck pain, Limb muscle weakness	OMIM:186700
Hereditary Motor And Sensory Neuropathy, Type Iic	Shoulder girdle muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotr...	OMIM:606071
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Aminoaciduria, Skeletal muscle atrophy, Methylmalonic aciduria, Elevated circulating creatine kin...	ORPHA:1933
Multicentric Reticulohistiocytosis	Cachexia, Histiocytosis, Arthritis	ORPHA:139436
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Urinary incontinence, Hypergonadotropic hypogonadism	OMIM:617145
Alport Syndrome 2, Autosomal Recessive	Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag...	OMIM:203780
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Neurogenic bladder	OMIM:617669
Autosomal Spastic Paraplegia Type 72	Urinary bladder sphincter dysfunction	ORPHA:401849
Gitelman Syndrome	Rhabdomyolysis, Arthralgia, Urinary incontinence, Abdominal pain, Tubulointerstitial nephritis, R...	ORPHA:358
Pure Autonomic Failure	Dysuria, Constitutional symptom, Anhidrosis, Urinary incontinence, Impotence	ORPHA:441
46,Xy Sex Reversal 4	Gonadal dysgenesis, Recurrent otitis media, Elevated circulating creatinine concentration, Ureter...	OMIM:154230
Idiopathic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Hypoa...	ORPHA:567548
Orofaciodigital Syndrome Xviii	Urinary incontinence	OMIM:617927
Bardet-Biedl Syndrome 19	Renal hypoplasia, Hypogonadism, External genital hypoplasia, Obesity, Renal insufficiency, Hydron...	OMIM:615996
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hyperparathyroidism, Renal insufficiency, Proteinuria, Glomerulopathy, Anemia, Hypercalcemia	ORPHA:2668
Galactosemia I	Aminoaciduria, Galactosuria, Increased level of galactitol in red blood cells, Failure to thrive,...	OMIM:230400
Congenital Disorder Of Glycosylation, Type Iie	Skeletal muscle atrophy, Failure to thrive, Splenomegaly, Elevated circulating creatine kinase co...	OMIM:608779
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Recurrent pneumonia, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration,...	ORPHA:496641
Igg4-Related Submandibular Gland Disease	Xerostomia, Renal insufficiency, Prostatitis, Eosinophilia, Abnormality of the kidney, Cholangitis	ORPHA:449432
Currarino Syndrome	Recurrent urinary tract infections, Horseshoe kidney, Septate vagina, Vesicoureteral reflux, Peri...	OMIM:176450
Nephronophthisis 3	Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insufficiency, Protein...	OMIM:604387
Interstitial Cystitis	Functional abnormality of the bladder, Abnormality of the urethra, Urinary bladder inflammation, ...	ORPHA:37202
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Urinary incontinence, Distal amyotrophy, Impotence, Foot dorsiflexor weakness	ORPHA:98
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Weight loss, Anemia	ORPHA:100024
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria, Cachexia, Camptodactyly of finger	ORPHA:2774
Pediatric Systemic Lupus Erythematosus	Discoid lupus rash, Nephritis, Abnormality of the urinary system, Microangiopathic hemolytic anem...	ORPHA:93552
Orthostatic Hypotension 1	Hypomagnesemia, Weakness of facial musculature, Retrograde ejaculation, Increased blood urea nitr...	OMIM:223360
Machado-Joseph Disease Type 1	Neurogenic bladder, Distal lower limb amyotrophy, Skeletal muscle atrophy	ORPHA:276238
Machado-Joseph Disease Type 2	Neurogenic bladder, Distal lower limb amyotrophy, Skeletal muscle atrophy	ORPHA:276241
Coenzyme Q10 Deficiency, Primary, 6	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:614650
Alstrom Syndrome	Irregular menstruation, Nephritis, Recurrent pneumonia, Decreased HDL cholesterol concentration, ...	OMIM:203800
Heme Oxygenase 1 Deficiency	Nephritis, Increased circulating ferritin concentration, Hematuria, Proteinuria, Coombs-positive ...	OMIM:614034
Cednik Syndrome	Proteinuria, Nephrotic syndrome, Hypogonadism	ORPHA:66631
Nephrotic Syndrome, Type 3	Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,...	OMIM:610725
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Failure...	ORPHA:97362
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Neurogenic bladder, Xerostomia	OMIM:618527
Hypouricemia, Renal, 1	Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati...	OMIM:220150
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w...	ORPHA:206549
Dyskeratosis Congenita, Autosomal Dominant 3	Aplastic anemia, Pancytopenia, Leukopenia, Cryptorchidism, Macrocytic anemia, Urethral stricture,...	OMIM:613990
Dent Disease 2	Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig...	OMIM:300555
Distal 16P11.2 Microdeletion Syndrome	Chronic kidney disease, Renal agenesis, Obesity, Vesicoureteral reflux, Hyperuricemia, Proteinuri...	ORPHA:261222
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Small for gestational age, Congenital nephrotic syndrome, Renal insufficiency, H...	OMIM:256300
Galloway-Mowat Syndrome 2, X-Linked	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:301006
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Urinary incontinence	OMIM:600795
Autosomal Recessive Spastic Paraplegia Type 76	Functional abnormality of the bladder	ORPHA:488594
Childhood Disintegrative Disorder	Urinary incontinence, Bowel incontinence	ORPHA:168782
Genetic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, Hy...	ORPHA:656
Macs Syndrome	Recurrent aphthous stomatitis, Cryptorchidism, Decreased body weight, Fatigue, Bronchiectasis, Hy...	OMIM:613075
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Urinary incontinence, Obesity	ORPHA:464282
Denys-Drash Syndrome	Nephropathy, Gonadal dysgenesis, Nephroblastoma, Proteinuria, Male pseudohermaphroditism, Nephrot...	ORPHA:220
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Nephropathy, Cryptorchidism, Proteinuria, Anemia, Nephrotic syndrome	ORPHA:1192
Proteinuria, Chronic Benign	Proteinuria, Albuminuria, Renal insufficiency	OMIM:618884
Dopamine Beta-Hydroxylase Deficiency	Elevated urinary dopamine level, Chest pain, Elevated circulating creatinine concentration, Fatig...	ORPHA:230
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Myalgia, Renal insufficiency, Rhabdomyolysis	OMIM:255110
Congenital Nephrotic Syndrome, Finnish Type	Proteinuria, Nephrotic syndrome, Elevated amniotic fluid alpha-fetoprotein, Abnormal renal tubule...	ORPHA:839
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Neurogenic bladder	ORPHA:500144
Frasier Syndrome	Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Gonadal dysgenesis, Stage 5 chronic k...	OMIM:136680
Glycogen Storage Disease V	Exercise intolerance, Dark urine, Exercise-induced rhabdomyolysis, Rhabdomyolysis, Hyperuricemia,...	OMIM:232600
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Sideroblastic anemia, Hydronephrosis, Megaloblastic anemia, Thrombocytopenia, Neutro...	OMIM:598500
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Urethrovesical occlusion, Arthrogryposis multiplex congenita	OMIM:226730
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Recurrent pneumonia, Failure to thrive in infancy, Urethral stricture, Hypohidrosis, Colitis, Bro...	OMIM:301220
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:235400
Galloway-Mowat Syndrome 6	Focal segmental glomerulosclerosis, Hypoalbuminemia, Decreased response to growth hormone stimula...	OMIM:618347
Nephrotic Syndrome, Type 11	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, IgA depos...	OMIM:616730
Machado-Joseph Disease Type 3	Neurogenic bladder, Distal lower limb amyotrophy, Skeletal muscle atrophy	ORPHA:276244
Huntington Disease-Like 3	Urinary incontinence, Flexion contracture, Bowel incontinence	OMIM:604802
Primary Sjögren Syndrome	Arteritis, Xerostomia, Chronic pain, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-...	ORPHA:289390
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness	Hydronephrosis, Hydroureter	OMIM:264140
Glycogen Storage Disease Due To Aldolase A Deficiency	Acute kidney injury, Decreased muscle mass, Muscle fiber atrophy, Myalgia, Exercise-induced rhabd...	ORPHA:57
Adrenomyeloneuropathy	Leg muscle stiffness, Urinary retention, Urinary bladder sphincter dysfunction, Male sexual dysfu...	ORPHA:139399
Peroxisome Biogenesis Disorder 14B	Urinary incontinence, Hydrocele testis	OMIM:614920
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myalgia, Renal insufficiency, Rhabdomyolysis, Elevated circulating creatine kinase concentration,...	ORPHA:2364
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Glycosuria, Failure to thrive...	OMIM:613404
Dyskeratosis Congenita, Autosomal Dominant 2	Aplastic anemia, Failure to thrive, Pancytopenia, Leukopenia, Urethral stricture, Neutropenia, Th...	OMIM:613989
Nephronophthisis 13	Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Glomerular subepithelial immu...	OMIM:614377
Autosomal Dominant Cutis Laxa	Unilateral renal agenesis, Pyelonephritis, Bronchiectasis, Bladder diverticulum	ORPHA:90348
Frasier Syndrome	Focal segmental glomerulosclerosis, Streak ovary, Renal insufficiency, Nephroblastoma, Proteinuri...	ORPHA:347
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple...	ORPHA:227990
Imerslund-Grasbeck Syndrome 1	Proteinuria, Microscopic hematuria, Megaloblastic anemia	OMIM:261100
Renpenning Syndrome	Decreased testicular size, Cachexia, Hypospadias, Skeletal muscle atrophy	ORPHA:3242
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple...	ORPHA:227982
Paganini-Miozzo Syndrome	Urinary incontinence, Hyperalaninemia	OMIM:301025
Congenital Myopathy 19	Congenital contracture, Skeletal muscle atrophy, Renal atrophy, Cryptorchidism, Hydronephrosis, F...	OMIM:618578
Igg4-Related Ophthalmic Disease	Keratitis, Trigeminal neuralgia, Abnormality of the extraocular muscles, Orchitis, Prostatitis, E...	ORPHA:449563
Immunodeficiency 50	Lymphopenia, Eczematoid dermatitis, Neutropenia, Recurrent urinary tract infections	OMIM:300988
Combined Oxidative Phosphorylation Deficiency 34	Failure to thrive, Elevated circulating creatinine concentration, Pancytopenia, Primary adrenal i...	OMIM:617872
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle...	ORPHA:352479
Lcat Deficiency	Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ...	ORPHA:650
Spastic Paraplegia 44, Autosomal Recessive	Urinary incontinence	OMIM:613206
Spinocerebellar Ataxia 17	Urinary incontinence	OMIM:607136
Spastic Paraplegia 9B, Autosomal Recessive	Urinary incontinence, Foot dorsiflexor weakness, Skeletal muscle atrophy, Urinary retention	OMIM:616586
Uremic Pruritus	Chronic kidney disease, Renal hypophosphatemia, Hypermagnesemia, Inflammatory abnormality of the ...	ORPHA:94059
Alport Syndrome	Focal segmental glomerulosclerosis, Nephritis, Thickened glomerular basement membrane, Glomerular...	ORPHA:63
Acute Intermittent Porphyria	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Urinary retenti...	ORPHA:79276
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephritis, Malar rash, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-nega...	OMIM:603909
Myoglobinuria, Autosomal Dominant	Myalgia, Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:160010
Hypercalcemia, Infantile, 1	Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria,...	OMIM:143880
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Proteinuria, Mucopolysacchariduria, Abnormal T cell morphology, Nephrotic syndrome, Small for ges...	OMIM:215250
Paroxysmal Nocturnal Hemoglobinuria	Chronic kidney disease, Pancytopenia, Reduced haptoglobin level, Hemosiderinuria, Unconjugated hy...	ORPHA:447
Neural Tube Defects, Susceptibility To	Urinary incontinence	OMIM:182940
Glycogen Storage Disease Ixd	Exercise intolerance, Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Low...	OMIM:300559
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch...	OMIM:617731
Scalp-Ear-Nipple Syndrome	Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis, Renal insufficiency, Hypohidrosis	OMIM:181270
Spastic Paraplegia 31, Autosomal Dominant	Urinary urgency	OMIM:610250
Alport Syndrome 1, X-Linked	Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag...	OMIM:301050
Huntington Disease-Like 3	Urinary incontinence, Flexion contracture, Bowel incontinence	ORPHA:157946
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Abnormality of the urethra, Cryptorchidism, Hypogonadotropic hypogonadism, Male pseudohermaphrodi...	ORPHA:752
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Eczematoid dermatitis, Abnormal circulating lipid concentration, Decreas...	ORPHA:488632
Malakoplakia	Inflammatory abnormality of the skin, Urinary bladder inflammation, Abnormality of the menstrual ...	ORPHA:556
Neuropathy, Hereditary Sensory And Autonomic, Type V	Septic arthritis, Osteomyelitis, Low back pain, Osteoarthritis, Anhidrosis, Urinary incontinence	OMIM:608654
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Chronic kidney disease, Acute kidney injury, Exercise intolerance, Skeletal muscle atrophy, Poste...	ORPHA:368
Posterior Column Ataxia With Retinitis Pigmentosa	Joint contracture of the hand, Skeletal muscle atrophy, Recurrent urinary tract infections, Flexi...	OMIM:609033
Multicentric Carpotarsal Osteolysis Syndrome	Bilateral renal atrophy, Ankle pain, Stage 5 chronic kidney disease, Renal insufficiency, Congeni...	OMIM:166300
8P23.1 Duplication Syndrome	Hydronephrosis, Adrenal insufficiency	ORPHA:251076
Intermediate Uveitis	Tubulointerstitial nephritis, Optic neuritis, Psoriasiform dermatitis, Anterior uveitis	ORPHA:279914
Spastic Paraplegia 54, Autosomal Recessive	Lower limb muscle weakness, Distal lower limb muscle weakness, Hypomimic face, Urinary incontinen...	OMIM:615033
Aa Amyloidosis	Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Adrenal insufficienc...	ORPHA:85445
Hermansky-Pudlak Syndrome 6	Recurrent urinary tract infections, Perineal fistula, Endometriosis, Neurogenic bladder, Absent p...	OMIM:614075
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Urinary incontinence	OMIM:221770
Galactose Epimerase Deficiency	Aminoaciduria, Weight loss, Splenomegaly	ORPHA:79238
Nephrotic Syndrome, Type 22	Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff...	OMIM:619155
Cat-Eye Syndrome	Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia	ORPHA:195
Aredyld Syndrome	Abnormality of the ureter, Cachexia, Splenomegaly	ORPHA:1133
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad...	OMIM:614527
Mckusick-Kaufman Syndrome	Multicystic kidney dysplasia, Failure to thrive, Hydrometrocolpos, Glandular hypospadias, Cryptor...	ORPHA:2473
Porphyria, Acute Intermittent	Urinary retention, Abdominal pain, Reduced erythrocyte porphobilinogen deaminase activity, Urinar...	OMIM:176000
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Acute kidney injury, Myalgia, Elevated circulating creatine kinase concentration, Myoglobinuria, ...	OMIM:268200
Sandhoff Disease	Skeletal muscle atrophy, Increased urinary N-acetylglucosamine-rich oligosaccharide level, Hepato...	OMIM:268800
Severe Generalized Junctional Epidermolysis Bullosa	Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Duplicated collecting system, Abno...	ORPHA:79404
Nephrotic Syndrome, Type 8	Chronic kidney disease, Hypoalbuminemia, Thin glomerular basement membrane, Stage 5 chronic kidne...	OMIM:615244
Glycogen Storage Disease Vii	Increased variability in muscle fiber diameter, Exercise intolerance, Increased total bilirubin, ...	OMIM:232800
Fragile X Tremor/Ataxia Syndrome	Myalgia, Hypothyroidism, Urinary incontinence, Premature ovarian insufficiency, Impotence, Bowel ...	OMIM:300623
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hyperleucinemia, Hyperammonemia, Decreased body weight, Hypervalinemia, Increa...	OMIM:620085
Fanconi Anemia, Complementation Group O	External genital hypoplasia, Stage 5 chronic kidney disease, Cryptorchidism, Hydronephrosis, Rena...	OMIM:613390
Aids Wasting Syndrome	Cachexia, Weight loss, Skeletal muscle atrophy	ORPHA:90081
Chiari Malformation Type I	Urinary incontinence, Neck pain, Limb muscle weakness	OMIM:118420
Pulmonary Blastoma	Chest pain, Recurrent pneumonia, Weight loss	ORPHA:64741
Cockayne Syndrome	Unilateral renal agenesis, Renal hypoplasia, Congenital contracture, Skeletal muscle atrophy, Con...	ORPHA:191
Exstrophy-Epispadias Complex	Abnormality of the ureter, Cryptorchidism, Abnormality of the kidney, Urinary incontinence, Renal...	ORPHA:322
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome	Urinary urgency	OMIM:618878
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Urinary incontinence, Bowel incontinence	OMIM:618868
Neuroleptic Malignant Syndrome	Acute kidney injury, Hyperphosphatemia, Aspiration pneumonia, Hypomagnesemia, Leukocytosis, Hypoc...	ORPHA:94093
Phosphoglycerate Kinase 1 Deficiency	Exercise intolerance, Exercise-induced myoglobinuria, Erythroid hyperplasia, Renal insufficiency,...	OMIM:300653
Spinocerebellar Ataxia Type 42	Urinary incontinence, Psoriasiform dermatitis, Impotence, Urinary urgency	ORPHA:458803
Parkinsonian-Pyramidal Syndrome	Neurogenic bladder, Hypomimic face	ORPHA:171695
Cryptococcosis	Pneumonia, Chest pain, Osteomyelitis, Limb muscle weakness, Peritonitis, Prostatitis, Lymphoid le...	ORPHA:1546
Cocaine Intoxication	Acute kidney injury, Chest pain, Rhabdomyolysis, Elevated circulating creatine kinase concentrati...	ORPHA:90068
Attrv30M Amyloidosis	Nephropathy, Weight loss, Impotence, Abnormal renal physiology	ORPHA:85447
Lateral Meningocele Syndrome	Neurogenic bladder, Cryptorchidism, Decreased muscle mass	OMIM:130720
Diffuse Alveolar Hemorrhage	Chest pain, Elevated circulating creatinine concentration, Leukocytosis, Hematuria, Proteinuria, ...	ORPHA:90060
Papa Syndrome	Crohn's disease, Proteinuria, Increased inflammatory response, Myositis, Arthralgia, Fatigue, Pus...	ORPHA:69126
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Hyperechogenic kidneys, Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, R...	OMIM:301110
Spondylocostal Dysostosis 4, Autosomal Recessive	Neurogenic bladder	OMIM:613686
Silver-Russell Syndrome	Precocious puberty, Abnormal male external genitalia morphology, Abnormality of the urinary syste...	ORPHA:813
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:620138
Cockayne Syndrome Type 3	Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Skeletal muscle atro...	ORPHA:90324
Bardet-Biedl Syndrome	Chronic kidney disease, Inflammation of the large intestine, Hydrometrocolpos, Cryptorchidism, Po...	ORPHA:110
Galloway-Mowat Syndrome 7	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom...	OMIM:618348
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Failure to thrive, Postexertional symptom exacerbation, Hyperlipidemia, Proteinuria, Abnormality ...	ORPHA:369
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia, Renal insufficiency, Reticulocytosis, Rhabdomyolysis, Myopathy, Decreased hem...	ORPHA:713
Congenital Disorder Of Glycosylation, Type Iit	Hypotriglyceridemia, Decreased serum creatinine, Iron deficiency anemia, Decreased HDL cholestero...	OMIM:618885
Adult-Onset Still Disease	Arthralgia, Weight loss, Neutrophilia, Elevated circulating C-reactive protein concentration, Abd...	ORPHA:829
Camptobrachydactyly	Urinary incontinence, Septate vagina, Congenital finger flexion contractures	OMIM:114150
Juvenile Amyotrophic Lateral Sclerosis	Upper-limb joint contracture, Distal amyotrophy, Skeletal muscle atrophy, Muscle fiber atrophy, R...	ORPHA:300605
Igg4-Related Aortitis	Hypereosinophilia, Hydronephrosis, Increased inflammatory response, Low back pain, Weight loss, E...	ORPHA:449400
Primary Hyperoxaluria Type 3	Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo...	ORPHA:93600
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,...	OMIM:618913
Free Sialic Acid Storage Disease	Failure to thrive in infancy, Splenomegaly, Proteinuria, Aplasia/Hypoplasia of the abdominal wall...	ORPHA:834
Pseudo-Torch Syndrome 3	Acute kidney injury, Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, P...	OMIM:618886
Simple Cryoglobulinemia	Nephritis, Viral hepatitis, Renal insufficiency, Mesangial hypercellularity, Proteinuria, Chronic...	ORPHA:91139
Vesicoureteral Reflux 3	Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico...	OMIM:613674
Mucopolysaccharidosis-Plus Syndrome	Focal segmental glomerulosclerosis, Nephritis, Macroglossia, Recurrent pneumonia, Hypoalbuminemia...	OMIM:617303
Indifference To Pain, Congenital, Autosomal Recessive	Urinary incontinence, Hypohidrosis, Anhidrosis	OMIM:243000
Dent Disease	Renal phosphate wasting, Chronic kidney disease, Renal hypophosphatemia, Hematuria, Tubulointerst...	ORPHA:1652
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis	OMIM:235760
Legionnaires Disease	Hepatitis, Chest pain, Lymphopenia, Myalgia, Renal insufficiency, Splenomegaly, Infectious enceph...	ORPHA:549
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas...	ORPHA:2260
Cryoglobulinemia, Familial Mixed	Chronic kidney disease, Elevated circulating creatinine concentration, Proteinuria, Hematuria, Ab...	OMIM:123550
Adult Krabbe Disease	Urinary incontinence, Erectile dysfunction, Upper limb muscle weakness, Lower limb muscle weakness	ORPHA:206448
Cockayne Syndrome Type 1	Male hypogonadism, Foot joint contracture, Failure to thrive, Renal insufficiency, Cryptorchidism...	ORPHA:90321
Genetic Recurrent Myoglobinuria	Proximal muscle weakness in upper limbs, Acute kidney injury, Oliguria, Hyperphosphatemia, Lower ...	ORPHA:99845
Williams-Beuren Region Duplication Syndrome	Unilateral renal agenesis, Small for gestational age, Failure to thrive, Decreased response to gr...	OMIM:609757
Spinocerebellar Ataxia Type 19/22	Urinary incontinence	ORPHA:98772
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Ragged-red muscle fibers, Cachexia, Weight loss, Abdominal pain	OMIM:613662
Fanconi Renotubular Syndrome 3	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc...	OMIM:615605
Intellectual Developmental Disorder, Autosomal Dominant 42	Failure to thrive, Lower limb muscle weakness, Congenital hypothyroidism, Ureteropelvic junction ...	OMIM:616973
Cryoglobulinemic Vasculitis	Myalgia, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Glomerulopathy, Arthralgia, G...	ORPHA:91138
Central Diabetes Insipidus	Hyponatremia, Weight loss, Failure to thrive, Nocturia	ORPHA:178029
Orofaciodigital Syndrome Xv	Hydronephrosis	OMIM:617127
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Chronic kidney disease, Renal amyloidosis, Foot joint contracture, IgA deposition in the glomerul...	ORPHA:79408
Xfe Progeroid Syndrome	Hypoalbuminemia, Failure to thrive, Renal insufficiency, Proteinuria, Cachexia, Premature ovarian...	OMIM:610965
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Nonprogressive muscular atrophy, Cachexia, Distal amyotrophy	ORPHA:1216
Systemic Capillary Leak Syndrome	Oliguria, Myalgia, Renal insufficiency, Leukocytosis, Abnormal renal tubule morphology, Fatigue, ...	ORPHA:188
Marchiafava-Bignami Disease	Urinary incontinence, Facial palsy, Limb hypertonia	ORPHA:221074
Cystinosis	Nephropathy, Aminoaciduria, Failure to thrive, Renal insufficiency, Renal tubular dysfunction, My...	ORPHA:213
Mitochondrial Membrane Protein-Associated Neurodegeneration	Urinary incontinence, Bowel incontinence	ORPHA:289560
Sarcoidosis	Abnormal reproductive system morphology, Weight loss, Erythema nodosum, Tubulointerstitial nephri...	ORPHA:797
Coenzyme Q10 Deficiency, Primary, 1	Focal segmental glomerulosclerosis, Pancytopenia, Ragged-red muscle fibers, Elevated circulating ...	OMIM:607426
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Multiple bladder diverticula, Recurrent otitis media, Cryptorchidism, Proteinuria	ORPHA:2728
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Urinary incontinence, Low back pain, Bowel incontinence	OMIM:600142
Idiopathic Achalasia	Chest pain, Recurrent aspiration pneumonia, Weight loss, Decreased circulating prealbumin concent...	ORPHA:930
Charcot-Marie-Tooth Disease Type 1F	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle...	ORPHA:101085
Yao Syndrome	Uveitis, Inflammatory abnormality of the skin, Xerostomia, Chest pain, Myalgia, Skin rash, Nephro...	OMIM:617321
Transcobalamin Deficiency	Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Pancytopenia, Neutropenia, Thrombocytop...	ORPHA:859
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydronephrosis, Hydroureter	OMIM:618240
Wieacker-Wolff Syndrome, Female-Restricted	Hip contracture, Weakness of facial musculature, Achilles tendon contracture, Urinary incontinenc...	OMIM:301041
Fanconi Renotubular Syndrome 2	Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g...	OMIM:613388
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Chronic kidney disease, Thickened glomerular basement membrane, Nephrocalcinosis, Uterus didelphy...	OMIM:146255
Spinocerebellar Ataxia 10	Urinary incontinence, Urinary urgency	OMIM:603516
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias	OMIM:619428
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Predominantly dermal...	ORPHA:284426
Schimke Immuno-Osseous Dysplasia	Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Abnormal prop...	ORPHA:1830
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Aminoaciduria, Hypouricemia, Nephrocalcinosis, Glycosuria, Large for gestational age, Hyperphosph...	OMIM:616026
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased muscle mass, Foot dorsiflexor weakness, Ragged-red muscle fibers, Abnormality of the ex...	ORPHA:298
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Hydronephrosis, Arthrogryposis multiplex congenita, Vesicoureteral reflux, Decreased body weight	OMIM:618265
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Skeletal muscle atrophy, Decreased body weight, Urinary incontinence, Flexion contracture, Bowel ...	OMIM:300243
Immunoneurologic Disorder, X-Linked	Functional abnormality of the bladder	OMIM:300076
Plasminogen Deficiency, Type I	Nephritis, Periodontitis, Nephrolithiasis, Decreased level of plasminogen, Conjunctivitis	OMIM:217090
Ring Chromosome 10 Syndrome	Cachexia, Hypocalcemia, Renal hypoplasia/aplasia	ORPHA:1438
Insulin-Resistance Syndrome Type B	Pneumonia, Nephritis, Hypoalbuminemia, Hypotriglyceridemia, Glycosuria, Abnormal circulating lipi...	ORPHA:2298
6P22 Microdeletion Syndrome	Hydronephrosis	ORPHA:251046
Spinocerebellar Ataxia Type 13	Urinary incontinence, Urinary urgency, Torticollis	ORPHA:98768
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre...	OMIM:617056
Multiple System Atrophy 1, Susceptibility To	Skeletal muscle atrophy, Hypohidrosis, Anhidrosis, Urinary incontinence, Impotence, Urinary urgency	OMIM:146500
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Aminoaciduria, Exercise intolerance, Failure to thrive, Ragged-red muscle fibers, Rhabdomyolysis,...	OMIM:124000
Renal Nutcracker Syndrome	Varicocele, Infertility, Renal artery stenosis, Dysmenorrhea, Hematuria, Proteinuria, Flank pain,...	ORPHA:71273
Spastic Paraplegia 9A, Autosomal Dominant	Urinary incontinence, Urinary urgency, Generalized amyotrophy	OMIM:601162
Desmoid Tumor	Chest pain, Myalgia, Hydronephrosis, Abnormality of the upper urinary tract, Arthralgia, Abdomina...	ORPHA:873
Galloway-Mowat Syndrome 10	Congenital hypothyroidism, Stage 5 chronic kidney disease, Podocyte foot process effacement, Prot...	OMIM:619609
Intellectual Developmental Disorder, X-Linked 90	Enuresis	OMIM:300850
19Q13.11 Microdeletion Syndrome	Failure to thrive, Bifid scrotum, Cryptorchidism, Cachexia, Hypospadias	ORPHA:217346
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Glomerular sclerosis, Increased blood urea nitroge...	OMIM:223900
Penoscrotal Transposition	Penoscrotal transposition, Abnormality of the urethra, Renal agenesis, Abnormality of the ureter,...	ORPHA:2842
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hydronephrosis, Cryptorchidism	OMIM:619797
Dyskeratosis Congenita	Periodontitis, Abnormal morphology of female internal genitalia, Splenomegaly, Displacement of th...	ORPHA:1775
Dyskeratosis Congenita, X-Linked	Horseshoe kidney, Decreased testicular size, Pancytopenia, Leukopenia, Cryptorchidism, Phimosis, ...	OMIM:305000
Spinocerebellar Ataxia 2	Urinary incontinence, Distal amyotrophy, Urinary bladder sphincter dysfunction	OMIM:183090
Becker Muscular Dystrophy	Exercise intolerance, Skeletal muscle atrophy, Abnormal urinary color, Myalgia, Elevated circulat...	ORPHA:98895
Moynahan Syndrome	Hypogonadism, Cachexia	ORPHA:2574
Goodpasture Syndrome	Glomerular crescent formation, Erythrocyte cylindruria, Chest pain, Renal insufficiency, Cylindru...	OMIM:233450
Joubert Syndrome 35	Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections	OMIM:618161
Galloway-Mowat Syndrome 4	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome...	OMIM:617730
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Urinary incontinence, Limb hypertonia	OMIM:620070
Imerslund-Grasbeck Syndrome 2	Moderate albuminuria, Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Megal...	OMIM:618882
Xanthinuria, Type Ii	Hypouricemia, Increased circulating hypoxanthine concentration, Increased urinary hypoxanthine le...	OMIM:603592
Renal Glucosuria	Enuresis nocturna, Glycosuria, Polyuria	OMIM:233100
Idiopathic Bronchiectasis	Chest pain, Halitosis, Cachexia, Acute infectious pneumonia, Bronchiectasis	ORPHA:60033
Congenital Muscular Dystrophy Due To Lmna Mutation	Flexion contracture, Cachexia, Skeletal muscle atrophy, Myopathy	ORPHA:157973
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret...	ORPHA:35858
Renal Cysts And Diabetes Syndrome	Decreased numbers of nephrons, Abnormality of the kidney, Hypoplasia of the uterus, Hypospadias, ...	OMIM:137920
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Focal segmental glomerulosclerosis, Failure to thrive, Enterocolitis, Nephrotic syndrome, Mild pr...	OMIM:301108
Neuraminidase Deficiency	Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Increased urinary O-li...	OMIM:256550
Autosomal Dominant Spastic Paraplegia Type 9A	Lower limb pain, Low back pain, Urinary incontinence, Pollakisuria, Urinary urgency, Lower limb h...	ORPHA:447753
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Female pseudohermaphroditi...	ORPHA:2973
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Small for gestational age, Failure to thrive, Renal insufficiency, Hypothyroidism, Hyperalaninemi...	OMIM:619147
Amyotrophic Lateral Sclerosis 2, Juvenile	Distal amyotrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Retrocollis, Hand muscl...	OMIM:205100
Juvenile Nephropathic Cystinosis	Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Hypophosphatemia, Aminoaciduria, A...	ORPHA:411634
Hypocomplementemic Urticarial Vasculitis	Conjunctivitis, Myalgia, Renal insufficiency, Episcleritis, Skin rash, Splenomegaly, Hematuria, P...	ORPHA:36412
Igg4-Related Dacryoadenitis And Sialadenitis	Xerostomia, Abnormality of the extraocular muscles, Myositis, Fatigue, Keratoconjunctivitis sicca...	ORPHA:79078
Fanconi Renotubular Syndrome 1	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur...	OMIM:134600
Dent Disease 1	Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo...	OMIM:300009
Whipple Disease	Uveitis, Chest pain, Myalgia, Splenomegaly, Infectious encephalitis, Myositis, Hyponatremia, Anem...	ORPHA:3452
Fanconi-Bickel Syndrome	Hypouricemia, Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobulinuria, Failure...	OMIM:227810
Spinocerebellar Ataxia Type 8	Urinary incontinence, Impotence	ORPHA:98760
Aicardi-Goutieres Syndrome 9	Thickened glomerular basement membrane, Hypoalbuminemia, Failure to thrive, Recurrent urinary tra...	OMIM:619487
Renal Agenesis	Unilateral renal agenesis, Absent vas deferens, Renal agenesis, Bilateral renal agenesis, Aplasia...	ORPHA:411709
Holocarboxylase Synthetase Deficiency	Perioral eczema, Eczematoid dermatitis, Organic aciduria, Hyperammonemia, Keratoconjunctivitis, W...	ORPHA:79242
Familial Mediterranean Fever	Renal amyloidosis, Erysipelas, Chest pain, Stage 5 chronic kidney disease, Myalgia, Leukocytosis,...	OMIM:249100
Alagille Syndrome 2	Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria	OMIM:610205
Frontometaphyseal Dysplasia 2	Decreased muscle mass, Elbow contracture, Cryptorchidism, Hip contracture, Neurogenic bladder, Ca...	OMIM:617137
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate...	OMIM:120330
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Myopathy, Hematuria, Hypophosphatemia, Weight loss...	OMIM:219800
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Elevated circulating creatine kinase...	OMIM:617193
Glycogen Storage Disease Ii	Firm muscles, Exercise intolerance, Limb muscle weakness, Splenomegaly, Elevated circulating crea...	OMIM:232300
Capillary Malformation-Arteriovenous Malformation	Abnormality of the musculature of the limbs, Neurogenic bladder	ORPHA:137667
Sporadic Pheochromocytoma/Secreting Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Chest pain, Hematuria, Pr...	ORPHA:276621
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie...	ORPHA:79233
Rhabdoid Tumor	Renal neoplasm, Hematuria, Weight loss, Thrombocytopenia, Anemia, Abdominal pain, Hypercalcemia	ORPHA:69077
Oculodentodigital Dysplasia	Neurogenic bladder, Joint contracture of the 5th finger, Uveitis	OMIM:164200
Riboflavin Transporter Deficiency	Skeletal muscle atrophy, Hypogonadism, Limb muscle weakness, Cachexia, Facial palsy	ORPHA:97229
Aapoaiv Amyloidosis	Chronic kidney disease, Renal amyloidosis, Elevated circulating creatinine concentration, Hyperli...	ORPHA:439232
Autosomal Recessive Ataxia, Beauce Type	Urinary incontinence, Skeletal muscle atrophy, Lower limb muscle weakness	ORPHA:88644
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Urinary incontinence	ORPHA:98784
Brain Malformations With Or Without Urinary Tract Defects	Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux, Failure to thrive	OMIM:613735
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Urinary incontinence	OMIM:125310
Oculodentodigital Dysplasia	Neurogenic bladder, Camptodactyly of finger	ORPHA:2710
Mcdonough Syndrome	Cachexia, Aplasia/Hypoplasia of the abdominal wall musculature, Cryptorchidism	ORPHA:2471
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating acylcarnitine concentration, Red-brown urine, Exercise intolerance, Myalgia,...	ORPHA:228305
Ketamine-Induced Biliary Dilatation	Dysuria	ORPHA:293807
Sacral Defect With Anterior Meningocele	Neurogenic bladder, Urinary retention, Rectal abscess, Back pain	OMIM:600145
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hypospadias, Duplicated collecting system, Leukopenia, Vesicoureteral reflux, Cryptorchidism, Ele...	OMIM:301056
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Proteinuria, Thrombocytopenia, Neutropenia, Macrothrombocytopenia	OMIM:603585
Al Amyloidosis	Hypoalbuminemia, Macroglossia, Howell-Jolly bodies, Xerostomia, Renal insufficiency, Proteinuria,...	ORPHA:85443
Epidermolysis Bullosa Simplex With Pyloric Atresia	Muscular dystrophy, Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, A...	ORPHA:158684
Metachromatic Leukodystrophy	Urinary incontinence, Cholecystitis	OMIM:250100
Frontometaphyseal Dysplasia	Hypoplasia of the musculature, Joint contracture of the hand, Interphalangeal joint contracture o...	ORPHA:1826
Bor Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ...	ORPHA:107
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Irregular menstruation, Brain abscess, Recurrent otitis media, Urinary incontinence, Bowel incont...	OMIM:616482
Opitz Gbbb Syndrome	Rectourethral fistula, Vesicoureteral reflux, Cryptorchidism, Micropenis, Hypospadias, Congenital...	OMIM:300000
Joubert Syndrome 37	Decreased testicular size, Obesity, Cryptorchidism, Hydronephrosis, Micropenis	OMIM:619185
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Stress urinary incontinence	ORPHA:136
Encephalitis Lethargica	Upper limb muscle weakness, Limb pain, Myalgia, Urinary incontinence, Bowel incontinence	ORPHA:83600
Endove Syndrome, Limb-Only Type	Hydronephrosis, Hypoplastic labia majora, Vesicoureteral reflux	OMIM:619217
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Aminoaciduria, Glycosuria, Failure to thrive, Hyperphosphaturia, Renal tubular dysfunction, Prote...	ORPHA:436271
X-Linked Immunoneurologic Disorder	Functional abnormality of the bladder	ORPHA:2571
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Proximal muscle weakness in lower limbs, Joint contracture of the hand, Proximal muscle weakness ...	ORPHA:466768
Generalized Pustular Psoriasis	Hypoalbuminemia, Lymphopenia, Obesity, Renal insufficiency, Pain, Leukocytosis, Palmoplantar pust...	ORPHA:247353
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Increased variability in muscle fiber diameter, Myopathy, Elevated circulating creatine kinase co...	ORPHA:119
Spastic Paraplegia 89, Autosomal Recessive	Functional abnormality of the bladder	OMIM:620379
Non-Functioning Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Chest pain, Hematuria, Ep...	ORPHA:94080
Leiomyomatosis, Diffuse, With Alport Syndrome	Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Fa...	OMIM:308940
Lysosomal Acid Lipase Deficiency	Hyperkalemia, Hypernatriuria, Failure to thrive, Abnormal urine potassium concentration, Hepatosp...	ORPHA:275761
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Hypomagnesemia 3, Renal	Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abdominal pain, Abno...	OMIM:248250
Meier-Gorlin Syndrome 7	Clitoral hypertrophy, Vesicoureteral reflux, Cryptorchidism, Decreased body weight, Urethral stri...	OMIM:617063
Johanson-Blizzard Syndrome	Abnormal vagina morphology, Failure to thrive, Exocrine pancreatic insufficiency, Hydronephrosis,...	ORPHA:2315
Bardet-Biedl Syndrome 12	Hydroureter, Hydrometrocolpos, Hypogonadism, Obesity, Hydronephrosis, Vaginal atresia, Cystic ren...	OMIM:615989
Kindler Epidermolysis Bullosa	Cheilitis, Inflammation of the large intestine, Periodontitis, Camptodactyly of finger, Esophagit...	ORPHA:2908
Cranioectodermal Dysplasia 1	Chronic kidney disease, Renal magnesium wasting, Stage 1 chronic kidney disease, Stage 5 chronic ...	OMIM:218330
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Aminoaciduria, Exercise intolerance, Glycosuria, Failure to thrive, Hyperphosphaturia, Renal tubu...	OMIM:220110
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Cachexia, Abnormality of the urinary system, Bowel incontinence	ORPHA:702
Amyloidosis, Hereditary Systemic 1	Urinary incontinence, Impotence	OMIM:105210
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Ketonuria, Lower limb muscle weakness, Microcytic anemia, Myalgia, 3-Methylglutaconic aciduria, R...	OMIM:251900
Non-Syndromic Posterior Hypospadias	Small for gestational age, Urethral diverticulum, Bifid scrotum, Congenital diaphragmatic hernia,...	ORPHA:95706
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Hydroureter, Fetal megacystis	OMIM:249210
Schimke Immunoosseous Dysplasia	Focal segmental glomerulosclerosis, Bilateral cryptorchidism, Lymphopenia, Pancytopenia, Stage 5 ...	OMIM:242900
Diabetic Embryopathy	Abnormal morphology of female internal genitalia, Cryptorchidism, Renal hypoplasia/aplasia, Hydro...	ORPHA:1926
Solitary Fibrous Tumor	Uterine neoplasm, Urinary retention, Vaginal neoplasm, Hypophosphatemic rickets, Prostate cancer,...	ORPHA:2126
Recombinant Chromosome 8 Syndrome	Camptodactyly, Joint contracture of the hand, Hydronephrosis, Cryptorchidism	OMIM:179613
Myopathy With Lactic Acidosis, Hereditary	Increased variability in muscle fiber diameter, Exercise intolerance, Skeletal muscle atrophy, Si...	OMIM:255125
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Bladder diverticulum	OMIM:617821
Netherton Syndrome	Aminoaciduria, Eczematoid dermatitis, Skin rash, Hydronephrosis, Erythroderma, Ectopic kidney	ORPHA:634
X-Linked Intellectual Disability, Cabezas Type	Camptodactyly of finger, Hypogonadism, Decreased testicular size, Obesity, Cachexia, Hyperhidrosi...	ORPHA:85293
Purine Nucleoside Phosphorylase Deficiency	Pneumonia, Hypouricemia, Decreased urinary urate, Failure to thrive, Recurrent urinary tract infe...	OMIM:613179
Primary Fanconi Renotubular Syndrome	Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Decreased circulating carnitine co...	ORPHA:3337
Osteootohepatoenteric Syndrome	Failure to thrive, Increased serum bile acid concentration, Grade II vesicoureteral reflux, Prote...	OMIM:619377
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Failure to thrive, Recurrent urinary tract infections, Lymphopenia, Hepatosplenomegaly, Leukopeni...	OMIM:612541
Mulibrey Nanism	Cachexia	ORPHA:2576
Erdheim-Chester Disease	Osteomyelitis, Renal insufficiency, Skin rash, Hydronephrosis, Hypogonadotropic hypogonadism, Fat...	ORPHA:35687
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Hydronephrosis, Cryptorchidism	OMIM:618060
Hypophosphatemic Rickets, X-Linked Recessive	Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole...	OMIM:300554
Kindler Syndrome	Periodontitis, Phimosis, Urethral stenosis	OMIM:173650
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Glycosuria, Large for gestational age, Hypophosphatemic rickets, Pancreatic islet-cell hyperplasi...	ORPHA:263455
Renal Hypodysplasia/Aplasia 1	Bilateral renal agenesis, Proteinuria, Primary amenorrhea, Vaginal atresia, Bicornuate uterus, Re...	OMIM:191830
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Nephropathy, Chronic kidney disease, Precordial pain, Keratitis, Uterine neoplasm, Failure to thr...	ORPHA:1018
Familial Mediterranean Fever	Nephropathy, Nephrocalcinosis, Erysipelas, Chest pain, Myalgia, Leukocytosis, Skin rash, Splenome...	ORPHA:342
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Decreased muscle mass, Decreased glomerular filtration rate, ...	OMIM:232200
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Oliguria, Acute monocytic leukemia, Central hypothyroidism, Leukocytosis, Fat...	ORPHA:514
Childhood Absence Epilepsy	Urinary incontinence	ORPHA:64280
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Urinary incontinence, Bowel incontinence	OMIM:618877
Small Cell Carcinoma Of The Bladder	Hematuria, Dysuria, Recurrent urinary tract infections	ORPHA:284400
Neuroblastoma, Susceptibility To, 1	Elevated urinary dopamine level, Elevated urinary homovanillic acid, Failure to thrive, Elevated ...	OMIM:256700
Axial Mesodermal Dysplasia Spectrum	Abnormality of the urinary system, Abnormal morphology of female internal genitalia, Abnormality ...	ORPHA:1834
Monosomy 22Q13.3	Obesity, Recurrent pyelonephritis, Vesicoureteral reflux, Hydronephrosis, Hypohidrosis, Recurrent...	ORPHA:48652
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Hydronephrosis, Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Intellectual Developmental Disorder, X-Linked 98	Central hypothyroidism, Failure to thrive, Urinary incontinence, Lower limb amyotrophy, Steroid-d...	OMIM:300912
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Irregular menstruation, Increased body weight, Exercise intolerance, Skeletal muscle atrophy, Mya...	ORPHA:79240
Vacterl/Vater Association	Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Bifid scrotum, Abnormal...	ORPHA:887
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil...	OMIM:232220
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased proportion o...	OMIM:619802
Metachromatic Leukodystrophy, Late Infantile Form	Urinary incontinence, Cholecystitis	ORPHA:309256
Ectodermal Dysplasia-Skin Fragility Syndrome	Recurrent pneumonia, Anoperineal fistula, Failure to thrive, Chapped lip, Recurrent skin infectio...	ORPHA:158668
Sporadic Infantile Bilateral Striatal Necrosis	Urinary incontinence, Hypomimic face	ORPHA:225147
Immunodeficiency 52	Recurrent pneumonia, Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia,...	OMIM:617514
Igg4-Related Pachymeningitis	Nephritis, Lymphadenitis, Lower limb muscle weakness, Parotitis, Neck pain, Pain, Low back pain, ...	ORPHA:449427
Christianson Syndrome	Cachexia, Arthrogryposis multiplex congenita, Decreased muscle mass	ORPHA:85278
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Increased total bilirubin, Elbow flexion contracture, Elevated circulating creat...	OMIM:608836
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Small scrotum, Camptodactyly of finger, Cryptorchidism, Hydronephrosis, Hypoplasia of penis	ORPHA:2083
Wild Type Attr Amyloidosis	Nephropathy, Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Bowel incontinence	ORPHA:330001
Metachromatic Leukodystrophy, Juvenile Form	Urinary incontinence, Cholecystitis	ORPHA:309263
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Parkinson Disease 6, Autosomal Recessive Early-Onset	Urinary urgency	OMIM:605909
Pyomyositis	Testicular teratoma, Myalgia, Renal insufficiency, Leukocytosis, Myositis, Weight loss, Sudden ca...	ORPHA:764
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Metrorrhagia, Hematuria, Gangrene, Fatigue, Weight loss, ...	ORPHA:520
Ddost-Cdg	Nephrotic range proteinuria, Failure to thrive, Primary hypothyroidism	ORPHA:300536
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Periodontitis, Polycystic ovaries, Tubulointerstitial fibros...	ORPHA:79259
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Uterus didelphys, Septate vagina, Psoriasiform dermatitis, Vesicourete...	ORPHA:2237
Postinfectious Vasculitis	Inflammatory abnormality of the skin, Hematuria, Arthralgia, Abnormal circulating protein concent...	ORPHA:48435
Isolated Congenital Hypoglossia/Aglossia	Weight loss, Aspiration pneumonia	ORPHA:141152
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Hy...	ORPHA:567546
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Nephropathy, Homocystinuria, Acute kidney injury, Cystathioninemia, Methylmalonic aciduria, Cysta...	OMIM:277400
Williams Syndrome	Cryptorchidism, Myopathy, Polycystic ovaries, Arthralgia, Abdominal pain, Chronic otitis media, P...	ORPHA:904
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Arthralgia, Weight loss, Glo...	ORPHA:1304
Hereditary Pheochromocytoma-Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Chest pain, Hematuria, Pr...	ORPHA:29072
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating acylcarnitine concentration, Failure to thrive, Myalgia, Hyperammonemia, Rha...	OMIM:609015
Primary Hyperoxaluria Type 1	Nephrocalcinosis, Enuresis, Failure to thrive, Recurrent urinary tract infections, Decreased glom...	ORPHA:93598
Lethal Congenital Contracture Syndrome 2	Hydronephrosis, Arthrogryposis multiplex congenita, Skeletal muscle atrophy	OMIM:607598
Donnai-Barrow Syndrome	Proteinuria, Bicornuate uterus, Congenital diaphragmatic hernia, Abnormality of the uterus	ORPHA:2143
Cystic Echinococcosis	Peritoneal abscess, Abnormality of the testis size, Epigastric pain, Hyperbilirubinemia, Abscess,...	ORPHA:400
Distal Duplication 6P	Hydronephrosis, Renal hypoplasia, Abnormality of the urinary system	ORPHA:1745
Townes-Brocks Syndrome	Renal hypoplasia, Rectovaginal fistula, Abnormal vagina morphology, Abnormality of the uterus, Bi...	ORPHA:857
Anemia, Congenital Dyserythropoietic, Type Iv	Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product...	OMIM:613673
Tetraploidy	Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:3305
Nail-Patella Syndrome	Thickened glomerular basement membrane, Nephritis, Decreased muscle mass, Elbow flexion contractu...	ORPHA:2614
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hydronephrosis, Contracture of the proximal interphalangeal joint of the 5th finger	OMIM:620141
Acute Transverse Myelitis	Upper limb muscle weakness, Urinary retention, Urinary bladder sphincter dysfunction, Priapism, A...	ORPHA:139417
Primary Progressive Freezing Gait	Urinary incontinence	ORPHA:75567
Mantle Cell Lymphoma	Fatigue, Weight loss, Splenomegaly	ORPHA:52416
Thymoma	Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Chest pain, Myalgia, Myos...	ORPHA:99867
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Nephropathy, Focal segmental glomerulosclerosis, Hypoalbuminemia, Renal insufficiency, Proteinuri...	OMIM:254900
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Hypercalcemia, Failure to thrive	ORPHA:476126
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Failure to thrive, Hyperammonemia, Hydronephrosis, Decreased serum zinc, Duplica...	OMIM:617093
Suleiman-El-Hattab Syndrome	Hydronephrosis, Cryptorchidism, Failure to thrive	OMIM:618950
Williams-Beuren Syndrome	Renal hypoplasia, Nephrocalcinosis, Recurrent urinary tract infections, Sudden death, Recurrent o...	OMIM:194050
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Irregular menstruation, Increased body weight, Exercise intolerance, Skeletal muscle atrophy, Fai...	ORPHA:264580
Glucose-Galactose Malabsorption	Failure to thrive, Renal insufficiency, Nephrolithiasis, Hematuria, Weight loss, Hypercalcemia, H...	ORPHA:35710
Pudendal Neuralgia	Scrotal pain, Paroxysmal rectal pain, Neuralgia, Allodynia, Dyspareunia, Erectile dysfunction, Vu...	ORPHA:60039
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Failure to thrive, Horseshoe kidney, Cryptorchidism, Penile hypospadias, Hypospadias, Congenital ...	OMIM:620083
Myoglobinuria, Recurrent	Exercise-induced myoglobinuria, Recurrent myoglobinuria, Ragged-red muscle fibers	OMIM:550500
Trisomy 13	Abnormal morphology of female internal genitalia, Abnormality of the ureter, Cryptorchidism, Disp...	ORPHA:3378
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Nephropathy, Pneumonia, Normocytic anemia, Elevated circulating creatinine concentration, Skin ra...	ORPHA:247691
Distal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Failure to thrive, Low-molecular-weight pr...	ORPHA:18
Autosomal Recessive Spastic Paraplegia Type 35	Enuresis nocturna, Foot dorsiflexor weakness, Urinary incontinence, Pollakisuria, Bowel incontine...	ORPHA:171629
Spinocerebellar Ataxia Type 25	Urinary urgency	ORPHA:101111
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Unilateral renal agenesis, Renal hypoplasia, Recurrent otitis media, Cryptorchidism, Hydronephrosis	OMIM:618494
Paroxysmal Cold Hemoglobinuria	Abnormal urinary color, Autoimmune hemolytic anemia, Arthralgia, Coombs-positive hemolytic anemia...	ORPHA:90035
Feingold Syndrome Type 1	Nephritis, Horseshoe kidney, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Abnormal...	ORPHA:391641
Acquired Central Diabetes Insipidus	Weight loss, Pollakisuria	ORPHA:95626
Toluene Embryopathy	Hydronephrosis, Abnormal localization of kidney, Cryptorchidism	ORPHA:1920
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Facial hypotonia, Failure to thrive in infancy, Cachexia, Hip contracture	OMIM:616801
Fabry Disease	Lipiduria, Renal insufficiency, Proteinuria, Left ventricular hypertrophy, Hypohidrosis, Anemia, ...	OMIM:301500
Isolated Succinate-Coq Reductase Deficiency	Distal amyotrophy, Skeletal muscle atrophy, Vesicoureteral reflux, Knee flexion contracture, Skel...	ORPHA:3208
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Unconjugated hyperbilirubinemia, Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz...	OMIM:300908
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Hydronephrosis, Limb hypertonia, Failure to thrive	ORPHA:488613
Distal Triplication 15Q	Dilatation of the renal pelvis, Horseshoe kidney, Large for gestational age, Nephroblastoma, Hydr...	ORPHA:314588
Immunodeficiency 27A	Pneumonia, Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Night sweats, Increas...	OMIM:209950
X-Linked Intellectual Disability Due To Gria3 Mutations	Slender build, Facial hypotonia, Cryptorchidism, Hydronephrosis, Micropenis, Abnormality of muscl...	ORPHA:364028
Ritscher-Schinzel Syndrome 1	Hydronephrosis, Hypospadias, Decreased response to growth hormone stimulation test	OMIM:220210
Immunoglobulin A Vasculitis	Myalgia, Renal insufficiency, Episcleritis, Skin rash, Infectious encephalitis, Hematuria, Protei...	ORPHA:761
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Rhabdomyolysis, Elevated circulating creatine kinase concentration, Myoglobinu...	OMIM:145600
Congenital Disorder Of Glycosylation, Type Iig	Giant platelets, Failure to thrive in infancy, Renal insufficiency, Cryptorchidism, Hydronephrosi...	OMIM:611209
Arachnoid Cyst	Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Sciatica, Lower limb pain, Uri...	ORPHA:2356
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis	OMIM:602418
Hellp Syndrome	Acute kidney injury, Shoulder pain, Microangiopathic hemolytic anemia, Decreased mean corpuscular...	ORPHA:244242
Oculopharyngodistal Myopathy	Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Distal upper limb amyotrop...	ORPHA:98897
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricemia, Hyperuri...	ORPHA:411536
Dyschondrosteosis-Nephritis Syndrome	Nephropathy, Proteinuria, Hematuria	ORPHA:1765
Distal Limb Deficiencies-Micrognathia Syndrome	Proteinuria, Renal hypoplasia, Renal insufficiency, Cryptorchidism	ORPHA:1307
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hydronephrosis, Micropenis, Flexion contracture, Hypospadias, Small for gestational age	OMIM:616897
Alexander Disease Type I	Cachexia, Failure to thrive	ORPHA:363717
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Myalgia, Weight loss, Elevated circulating C-reactive protein concentration, Abnor...	ORPHA:54251
Shigellosis	Microangiopathic hemolytic anemia, Urethritis, Abscess, Rhabdomyolysis, Abdominal pain, Abnormal ...	ORPHA:810
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Muscular dystrophy, Shoulder girdle muscle weakness, Exercise-induced myoglobinuria, Myalgia, Ele...	OMIM:607155
Spondyloenchondrodysplasia	Chronic kidney disease, Pneumonia, Granuloma, Hepatitis, Decreased response to growth hormone sti...	ORPHA:1855
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Urinary incontinence, Hypomimic face	ORPHA:247234
Avian Influenza	Pneumonia, Hypoalbuminemia, Acute kidney injury, Myelitis, Hepatitis, Chest pain, Lymphopenia, My...	ORPHA:454836
Glycogen Storage Disease Ic	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Cyclic neutropenia, Decr...	OMIM:232240
Systemic Lupus Erythematosus	Discoid lupus rash, Leukopenia, Malar rash, Hematuria, Proteinuria, Malaise, Fatigue, Lupus nephr...	ORPHA:536
Paroxysmal Nocturnal Hemoglobinuria 2	Paroxysmal nocturnal hemoglobinuria, Arthralgia, Fatigue, Abdominal pain, Hemolytic anemia	OMIM:615399
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Decreased circulating carnitine concentration, Necrotizing enterocolitis, Dicarboxylic aciduria, ...	OMIM:201475
Urachal Cyst	Leukocytosis, Abscess, Hematuria, Peritonitis, Urachus fistula, Elevated circulating C-reactive p...	ORPHA:488
Familial Glucocorticoid Deficiency	Precocious puberty, Leydig cell neoplasia, Renal salt wasting, Hypernatriuria, Failure to thrive,...	ORPHA:361
Craniosynostosis, Herrmann-Opitz Type	Abnormality of the upper urinary tract, Abnormality of the urethra	ORPHA:2145
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Nephritis, Renal insufficiency, Proteinuria, Renal cyst, Conjugated hyper...	OMIM:208500
Nijmegen Breakage Syndrome	Recurrent pneumonia, Acute leukemia, Skeletal muscle atrophy, Hemolytic anemia, Autoimmune hemoly...	ORPHA:647
Stevens-Johnson Syndrome	Abnormality of the urethra, Renal insufficiency, Anemia, Fatigue, Pancreatitis, Dyspareunia, Thro...	ORPHA:36426
Metachromatic Leukodystrophy, Adult Form	Urinary incontinence, Bowel incontinence, Cholecystitis	ORPHA:309271
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Unconjugated hyperbilirubinemia, ...	ORPHA:90038
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Granuloma, Lymphopenia, Hepatosplenome...	OMIM:618935
Townes-Brocks Syndrome 1	Renal hypoplasia, Multicystic kidney dysplasia, Rectovaginal fistula, Small for gestational age, ...	OMIM:107480
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Proteinuria, Renal artery stenosis	OMIM:209010
Hemochromatosis, Type 3	Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen...	OMIM:604250
Al-Gazali Syndrome	Hydronephrosis, Wrist flexion contracture, Recurrent pneumonia, Failure to thrive	OMIM:609465
Kleefstra Syndrome	Chronic otitis media, Obesity, Vesicoureteral reflux, Renal insufficiency, Cryptorchidism, Hydron...	ORPHA:261494
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Imperforate hymen, Hematocolpos, Enuresis, Renal agenesis, Grade III vesicoureteral reflux, Urete...	OMIM:619522
Noonan Syndrome 4	Large for gestational age, Cryptorchidism, Hydronephrosis, Thrombocytopenia, Ureteral duplication	OMIM:610733
Camurati-Engelmann Disease	Skeletal muscle atrophy, Urinary retention, Hypogonadism, Slender build, Leukopenia, Splenomegaly...	ORPHA:1328
Pheochromocytoma--Islet Cell Tumor Syndrome	Proteinuria, Hyperhidrosis, Hypercalcemia, Elevated urinary norepinephrine level	OMIM:171420
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Fasciitis, Myalgia, Myositis, Muscular edema, Eosinophilia, Fatig...	ORPHA:3165
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydronephrosis, Hydroureter, Fetal megacystis	OMIM:619362
Toxic Epidermal Necrolysis	Abnormality of the urethra, Abnormal vagina morphology, Renal insufficiency, Anemia, Fatigue, Pan...	ORPHA:537
Fliedner-Zweier Syndrome	Hydronephrosis, Unilateral renal agenesis, Multicystic kidney dysplasia, Obesity	OMIM:620511
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydronephrosis, Urethral atresia, Enlarged kidney	OMIM:314390
Mirage Syndrome	Microphallus, Aspiration pneumonia, Recurrent urinary tract infections, Lymphopenia, Leukopenia, ...	OMIM:617053
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Cryptorchidism, Fetal megacystis	ORPHA:73246
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Abnormal circulating lipid concentration, Hyperlipoproteinemia, Cachexia, Weight loss, Flexion co...	ORPHA:1979
9Q21.13 Microdeletion Syndrome	Hydronephrosis, Cryptorchidism	ORPHA:531151
Kury-Isidor Syndrome	Hydronephrosis, Recurrent otitis media	OMIM:619762
Martin-Probst Syndrome	Bifid scrotum, Pancytopenia, Renal insufficiency, Cryptorchidism, Proteinuria, Chordee, Hypothyro...	OMIM:300519
Trisomy 1Q	Small scrotum, Multicystic kidney dysplasia, Camptodactyly of finger, Congenital diaphragmatic he...	ORPHA:261344
Reticular Dysgenesis	Failure to thrive, Leukopenia, Skin rash, Weight loss, Anemia, Abnormality of neutrophils, Chroni...	ORPHA:33355
Tetrasomy 15Q26	Horseshoe kidney, Camptodactyly, Hydronephrosis	OMIM:614846
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Proximal tubulopathy, Failure to thrive, Hypocholesterolemia, Premature ovarian ...	OMIM:212065
Cronkhite-Canada Syndrome	Splenomegaly, Cachexia, Fatigue, Anemia, Abdominal pain	ORPHA:2930
Desmoplastic Small Round Cell Tumor	Cachexia, Weight loss, Testicular neoplasm, Anemia, Abdominal pain, Ovarian neoplasm	ORPHA:83469
ERI1-related disease	Failure to thrive, Vesicoureteral reflux, Decreased body weight, Hydronephrosis, Hip pain, Small ...	OMIM:608739
Zellweger Syndrome	Multicystic kidney dysplasia, Clitoral hypertrophy, Failure to thrive, Primary adrenal insufficie...	ORPHA:912
Glycogen Storage Disease Xii	Normocytic anemia, Increased variability in muscle fiber diameter, Hyperbilirubinemia, Cholecysti...	OMIM:611881
Systemic Sclerosis	Chronic kidney disease, Acute kidney injury, Osteomyelitis, Myalgia, Renal insufficiency, Pain, E...	ORPHA:90291
Hand-Foot-Genital Syndrome	Abnormality of the urethra, Abnormality of the uterus, Recurrent urinary tract infections, Vesico...	ORPHA:2438
Spastic Paraplegia 30, Autosomal Dominant	Urinary bladder sphincter dysfunction	OMIM:610357
Neuropathy, Congenital Hypomyelinating, 3	Facial diplegia, Cachexia, Hypomimic face, Limb joint contracture, Flexion contracture, Arthrogry...	OMIM:618186
Pseudoleprechaunism Syndrome, Patterson Type	Bladder diverticulum	ORPHA:2976
Schwartz-Jampel Syndrome	Abnormality of the urinary system, Skeletal muscle atrophy, Shoulder flexion contracture, Skeleta...	ORPHA:800
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Hemolytic anemia, Skeletal muscle atrophy, Limb muscle weakness, Paroxysmal nocturnal hemoglobinuria	OMIM:612300
Castleman Disease	Ureteral obstruction, Renal insufficiency, Hematuria, Flank pain, Fatigue, Weight loss, Constitut...	ORPHA:160
Flynn-Aird Syndrome	Cachexia, Primary adrenal insufficiency, Skeletal muscle atrophy	ORPHA:2047
Leishmaniasis	Hypoalbuminemia, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Night sw...	ORPHA:507
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	OMIM:266120
Fatal Familial Insomnia	Hyperhidrosis, Weight loss, Urinary retention	OMIM:600072
Microcephaly 26, Primary, Autosomal Dominant	Hydronephrosis, Recurrent pneumonia, Failure to thrive	OMIM:619179
Infantile Nephropathic Cystinosis	Aminoaciduria, Glycosuria, Failure to thrive, Low-molecular-weight proteinuria, Abnormality of th...	ORPHA:411629
Nephroblastoma	Hematuria, Abdominal pain, Weight loss, Nephroblastoma	ORPHA:654
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Clitoral hypertrophy, Hypoplasia of the bladder, Hydroureter, Crossed fused renal ectopia, Septat...	OMIM:300707
Polyarteritis Nodosa	Myalgia, Arthralgia, Weight loss, Abnormality of the kidney, Elevated circulating C-reactive prot...	ORPHA:767
Khan-Khan-Katsanis Syndrome	Renal hypoplasia, Failure to thrive, Lymphopenia, Vesicoureteral reflux, Hydronephrosis, Renal cy...	OMIM:618460
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Increased mean corpuscular hemoglobin concentration, Hepatitis, Increased circulating ferritin co...	OMIM:194380
Multiple Myeloma	Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Splenomegaly, Fa...	ORPHA:29073
Trisomy 18	Camptodactyly of finger, Abnormal morphology of female internal genitalia, Congenital diaphragmat...	ORPHA:3380
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Elbow flexion contracture, Knee flexion contracture, Hip contracture, Severe failure to thrive, C...	ORPHA:371364
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Large for gestational age, Vesicoureteral reflux, Congenital diaphragmatic hernia, Hydronephrosis...	OMIM:614080
Immunodeficiency 18	Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno...	OMIM:615615
Felty Syndrome	Recurrent pneumonia, Recurrent urinary tract infections, Abnormal lymphocyte morphology, Episcler...	ORPHA:47612
Pgm3-Cdg	Allergic rhinitis, Abnormal CD4:CD8 ratio, Lymphopenia, Esophagitis, Decreased proportion of CD4-...	ORPHA:443811
Zygomycosis	Pustule, Acute infectious pneumonia, Neutropenia, Abdominal pain, Endocarditis, Chest pain, Renal...	ORPHA:73263
Epilepsy, Progressive Myoclonic, 10	Urinary incontinence	OMIM:616640
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Hydronephrosis, Limb joint contracture, Limb hypertonia, Cryptorchidism	OMIM:620327
Mitochondrial Trifunctional Protein Deficiency 2	Myalgia, Hyperammonemia, Elevated circulating creatine kinase concentration, Myoglobinuria, Incre...	OMIM:620300
Wolman Disease	Adrenal insufficiency, Splenomegaly, Cachexia, Anemia, Bone-marrow foam cells	ORPHA:75233
Ohdo Syndrome	Proteinuria, Small scrotum, Cryptorchidism	OMIM:249620
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Hyperbilirubinemia, Increased serum bile acid concentration, Mild proteinuria, Bilateral cryptorc...	OMIM:619685
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Autoim...	ORPHA:444463
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria, Rhabdomyolysis	OMIM:602199
Koolen-De Vries Syndrome	Vesicoureteral reflux, Cryptorchidism, Renal duplication, Hydronephrosis, Hypothyroidism, Uretera...	ORPHA:96169
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatosplenomegaly, Esophagitis, Hydronephrosis, Decreased serum zinc, Duplicated collecting system	ORPHA:541423
Pure Mitochondrial Myopathy	Exercise intolerance, Quadriceps muscle weakness, Shoulder girdle muscle weakness, Myalgia, Rhabd...	ORPHA:254854
Congenital Disorder Of Glycosylation, Type Iiaa	Unilateral renal agenesis, Hyperammonemia, Knee flexion contracture, Hydronephrosis, Hypercholest...	OMIM:620454
Metachromatic Leukodystrophy	Impaired continence, Limb pain, Pain, Urinary incontinence, Bowel incontinence	ORPHA:512
Alveolar Echinococcosis	Cutaneous abscess, Asthenia, Chest pain, Abnormal skeletal muscle morphology, Epigastric pain, Ab...	ORPHA:284
Amyotrophic Lateral Sclerosis	Progressive distal muscular atrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Lower l...	ORPHA:803
Cutis Laxa, Autosomal Recessive, Type Ia	Bladder diverticulum, Congenital diaphragmatic hernia	OMIM:219100
Oeis Complex	Duplicated collecting system, Hydroureter, Vesicovaginal fistula, Renal agenesis, Ambiguous genit...	OMIM:258040
Autosomal Dominant Spastic Paraplegia Type 41	Urinary urgency	ORPHA:320355
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Xerostomia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Cachexia, Anemia, Abdominal pain	OMIM:175500
Musculocontractural Ehlers-Danlos Syndrome	Functional abnormality of the bladder, Decreased muscle mass, Horseshoe kidney, Cryptorchidism, M...	ORPHA:2953
Marden-Walker Syndrome	Abnormal penis morphology, Aplasia/Hypoplasia involving the skeletal musculature, Multicystic kid...	ORPHA:2461
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Abnormality of the uterus, Hepatosplenomegaly, Splenomegaly, Cryptorchidism, Hypocalcemia, Hydron...	ORPHA:1655
Arnold-Chiari Malformation Type I	Urinary incontinence, Neck pain, Abnormality of the musculature of the lower limbs	ORPHA:268882
Neuromyelitis Optica Spectrum Disorder	Functional abnormality of the bladder	ORPHA:71211
Czeizel-Losonci Syndrome	Abnormality of the urinary system, Ureteral agenesis, Hydronephrosis, Congenital megaureter, Post...	ORPHA:2437
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hypernatriuria, Decreased circulating renin level, Hyponatremia, Hyposthenuria, Reduced blood ure...	OMIM:300539
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Decreased urinary urate, Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell ...	ORPHA:760
Severe Oculo-Renal-Cerebellar Syndrome	Proteinuria, Glomerulopathy, Renal insufficiency	ORPHA:2715
Adrenocortical Carcinoma	Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Hypok...	ORPHA:1501
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Increased circulating cortisol level, Increased circulating prolactin co...	ORPHA:97289
Nail-Patella Syndrome	Triceps aplasia, Quadriceps aplasia, Biceps aplasia, Absence of pectoralis minor muscle, Renal in...	OMIM:161200
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Splenomegaly, Hypocalce...	OMIM:617913
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent urinary tract infections, Lymphopenia, Leukopenia, Splenomegaly, Recurrent skin infections	OMIM:620210
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormality of the male genitalia, Recurrent urinary tract infections, Abnormal hemoglobin, Crypt...	ORPHA:847
Meningioma	Secondary growth hormone deficiency, Hypothalamic hypothyroidism, Upper limb muscle weakness, Low...	ORPHA:2495
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Glandular hypospadias, Myopathy, Hydronephrosis, Facial palsy, Aplasia o...	ORPHA:1358
Acquired Generalized Lipodystrophy	Abnormal circulating lipid concentration, Myopathy, Polycystic ovaries, Proteinuria, Hypertriglyc...	ORPHA:79086
Microphthalmia, Lenz Type	Hydroureter, Camptodactyly of finger, Cryptorchidism, Renal hypoplasia/aplasia, Hydronephrosis, H...	ORPHA:568
Immunodeficiency 105	Reduced natural killer cell count, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Skin rash, Impa...	OMIM:619924
Senior-Loken Syndrome 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis	OMIM:606995
Systemic Lupus Erythematosus 17	Myelitis, Lymphopenia, Leukopenia, Malar rash, Optic neuritis, Arthralgia, Thrombocytopenia, Auto...	OMIM:301080
Chromosome 2P16.1-P15 Deletion Syndrome	Joint contracture of the hand, Hypogonadism, Decreased testicular size, Cryptorchidism, Hydroneph...	OMIM:612513
Bardet-Biedl Syndrome 20	Male hypogonadism, Bilateral cryptorchidism, Obesity, Proteinuria, Pancreatitis, Hypercholesterol...	OMIM:619471
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Macroglossia, Heparan sulfate excretion in urine, Hepatosplenomegaly, Urinary gl...	ORPHA:505248
Pfapa Syndrome	Splenomegaly, Infectious encephalitis, Arthralgia, Fatigue, Weight loss, Arthritis, Abdominal pain	ORPHA:42642
Carpenter Syndrome 1	Precocious puberty, Joint contracture of the hand, Hydroureter, Polysplenia, External genital hyp...	OMIM:201000
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Enuresis	OMIM:613670
Acute Adrenal Insufficiency	Normocytic anemia, Failure to thrive, Primary adrenal insufficiency, Renal insufficiency, Decreas...	ORPHA:95409
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy	Urinary urgency	ORPHA:314603
Tetrasomy 12P	Cachexia, Hypohidrosis	ORPHA:884
Micro Syndrome	Cryptorchidism, Hydronephrosis, Abnormal localization of kidney, Hypoplastic labia minora, Hypopl...	ORPHA:2510
Galloway-Mowat Syndrome 3	Hypoalbuminemia, Failure to thrive, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia...	OMIM:617729
X-Linked Agammaglobulinemia	Recurrent pneumonia, Hepatitis, Failure to thrive, Osteomyelitis, Skin rash, Hypocalcemia, Anemia...	ORPHA:47
Galloway-Mowat Syndrome	Nephropathy, Nephrotic syndrome, Proteinuria, Camptodactyly of finger	ORPHA:2065
Focal Myositis	Myositis, Myalgia, Weight loss, Elevated circulating creatine kinase concentration	ORPHA:48918
Microphthalmia, Syndromic 9	Renal hypoplasia, Multilobulated spleen, Horseshoe kidney, Congenital diaphragmatic hernia, Crypt...	OMIM:601186
Mckusick-Kaufman Syndrome	Hydroureter, Vesicovaginal fistula, Hydrometrocolpos, Transverse vaginal septum, Cryptorchidism, ...	OMIM:236700
Wilson Disease	Hypouricemia, Hyperbilirubinemia, Limb muscle weakness, Hypoparathyroidism, Decreased circulating...	OMIM:277900
Autosomal Recessive Spastic Paraplegia Type 20	Distal amyotrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Hydronephrosis, Dysuria	ORPHA:101000
Proximal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Failure to thrive, Low-molecular-wei...	ORPHA:47159
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aminoaciduria, Clitoral hypertrophy, Failure to thrive, Cryptorchidism, Hydronephrosis, Elevated ...	OMIM:214100
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Renal insufficiency, Proteinuria, Glomerulopathy, Elliptocytosis, Microscopic hematuria	ORPHA:86818
Acro-Renal-Ocular Syndrome	Horseshoe kidney, Crossed fused renal ectopia, Vesicoureteral reflux, Renal hypoplasia/aplasia, B...	ORPHA:959
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Moderate albuminuria, Periodontitis, Obesity, Hydronephrosis	OMIM:619269
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent pneumonia, Inflammatory abnormality of the skin, Failure to thrive, Recurrent otitis me...	ORPHA:277
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Hyperuricemia, Hprt-Related	Renal insufficiency, Podagra, Hyperuricemia, Nephrolithiasis, Hyperuricosuria	OMIM:300323
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Duplicated collecting system, Blepharitis, Hydroureter, Ureterocele, Renal agenesis, Xerostomia, ...	OMIM:129900
Relapsing Polychondritis	Uveitis, Keratitis, Hepatitis, Recurrent aphthous stomatitis, Chondritis, Renal insufficiency, Ep...	ORPHA:728
Melnick-Needles Syndrome	Hydronephrosis, Vesicoureteral reflux	ORPHA:2484
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Failu...	ORPHA:71212
Floating-Harbor Syndrome	Precocious puberty, Hypospadias, Nephrocalcinosis, Varicocele, Dilatation of the renal pelvis, Re...	ORPHA:2044
Congenital Disorder Of Glycosylation, Type It	Exercise intolerance, Hepatitis, Recurrent otitis media, Rhabdomyolysis, Elevated circulating cre...	OMIM:614921
Zaki Syndrome	Hydronephrosis, Renal agenesis, Congenital diaphragmatic hernia	OMIM:619648
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Graves disease, Urinary retention, Lower limb muscle weakness, Hypomagnesem...	ORPHA:79102
Chondrodysplasia Punctata 2, X-Linked Dominant	Failure to thrive, Elevated 8(9)-cholestenol, Hydronephrosis, Erythroderma, Elevated 8-dehydrocho...	OMIM:302960
Genitopatellar Syndrome	Small scrotum, Multicystic kidney dysplasia, Clitoral hypertrophy, Cryptorchidism, Knee flexion c...	ORPHA:85201
Baller-Gerold Syndrome	Failure to thrive in infancy, Abnormality of the ureter, Vesicoureteral reflux, Hydronephrosis, A...	ORPHA:1225
Penile Agenesis	Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, C...	ORPHA:49
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia, Joint contracture of the hand, Erysipelas, Horseshoe kidney, Vesicoureteral refl...	OMIM:235510
Basel-Vanagaite-Smirin-Yosef Syndrome	Hydronephrosis, Recurrent pneumonia, Hypospadias, Clitoral hypertrophy	OMIM:616449
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Splenomegaly, Cryptorchidism, Hypocalcemia, Hydronephrosis, Micropenis, Hypoproteinemia	OMIM:235255
Trisomy 20P	Camptodactyly of finger, Abnormality of the ureter, Cryptorchidism, Hydronephrosis, Multiple rena...	ORPHA:261318
Mesomelia-Synostoses Syndrome	Hydronephrosis	ORPHA:2496
Mosaic Trisomy 8	Camptodactyly of finger, Decreased testicular size, Vesicoureteral reflux, Cryptorchidism, Hydron...	ORPHA:96061
Koolen-De Vries Syndrome	Eczematoid dermatitis, Failure to thrive, Recurrent urinary tract infections, Vesicoureteral refl...	OMIM:610443
Takenouchi-Kosaki Syndrome	Unilateral renal agenesis, Cryptorchidism, Hydronephrosis, Thrombocytopenia, Camptodactyly, Hypos...	OMIM:616737
Parathyroid Carcinoma	Nephrocalcinosis, Renal hamartoma, Uterine leiomyoma, Renal insufficiency, Nephroblastoma, Nephro...	ORPHA:143
Wagro Syndrome	Hypoplastic female external genitalia, Decreased testicular size, Obesity, Nephroblastoma, Protei...	OMIM:612469
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Recurrent pneumonia, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Asthenia, Lym...	OMIM:617780
Laryngeal Neuroendocrine Tumor	Adrenocorticotropic hormone excess, Chronic fatigue, Weight loss, Elevated circulating carcinoemb...	ORPHA:100083
Spastic Paraplegia 80, Autosomal Dominant	Urinary urgency	OMIM:618418
Eec Syndrome	Keratitis, Xerostomia, Decreased response to growth hormone stimulation test, Anterior hypopituit...	ORPHA:1896
Arima Syndrome	Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R...	OMIM:243910
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Urinary incontinence	ORPHA:314404
Macrocephaly/Autism Syndrome	Recurrent otitis media, Lymphopenia, Obesity, Penile freckling, Large for gestational age, Spleno...	OMIM:605309
Insulin Autoimmune Syndrome	Weight loss, Arthralgia/arthritis	ORPHA:411593
Liposarcoma	Abdominal pain, Fatigue, Weight loss, Abnormality of the kidney	ORPHA:69078
African Trypanosomiasis	Myelitis, Keratitis, Abnormality of the menstrual cycle, Infertility, Hepatosplenomegaly, Renal i...	ORPHA:3385
Bladder Exstrophy	Bowel incontinence, Recurrent urinary tract infections, Abnormality of the ureter, Vesicoureteral...	ORPHA:93930
Malignant Hyperthermia Of Anesthesia	Acute kidney injury, Necrotizing myopathy, Hyperphosphatemia, Exercise-induced rhabdomyolysis, My...	ORPHA:423
Aggressive Systemic Mastocytosis	Abnormal mast cell morphology, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Inc...	ORPHA:98850
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Morgagni diaphragmatic hernia, Multiple bladder diverticula, Recurrent pneumoni...	OMIM:613177
Behçet Disease	Arthralgia, Weight loss, Abdominal pain, Endocarditis, Myalgia, Renal insufficiency, Myositis, In...	ORPHA:117
Nijmegen Breakage Syndrome	Recurrent pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Autoimmune hemol...	OMIM:251260
Fryns Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Congenital diaphragmatic hernia, Cryptorchid...	ORPHA:2059
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Organic aciduria, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyper...	OMIM:301310
Pearson Syndrome	Pancytopenia, Hypophosphatemia, Neutropenia, Hypoparathyroidism, Hypoplastic spleen, Decreased re...	ORPHA:699
Duane-Radial Ray Syndrome	Renal hypoplasia, Renal agenesis, Horseshoe kidney, Pectoralis hypoplasia, Crossed fused renal ec...	OMIM:607323
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated circulating acylcarnitine concentration, Ketonuria, Hyperammonemia, Rhabdomyolysis, Elev...	OMIM:616878
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia, Proteinuria, Bicornuate uterus, Non-acidotic proximal tubulopath...	OMIM:222448
Congenital Myopathy 17	Renal hypoplasia, Failure to thrive in infancy, Ureteropelvic junction obstruction, Myopathy, Hyd...	OMIM:618975
Takayasu Arteritis	Chest pain, Myalgia, Increased inflammatory response, Gangrene, Anemia, Arthralgia, Fatigue, Hype...	ORPHA:3287
Pfeiffer Syndrome Type 3	Horseshoe kidney, Hydronephrosis, Vesicoureteral reflux	ORPHA:93260
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Hematuria, Proteinuria, Limb pain	OMIM:192315
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Hydronephrosis, Cryptorchidism	ORPHA:457193
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Adnp Syndrome	Urinary incontinence, Cryptorchidism, Truncal obesity, Recurrent urinary tract infections	ORPHA:404448
Mosaic Trisomy 9	Hypoplastic female external genitalia, Abnormality of the uterus, Camptodactyly of finger, Horses...	ORPHA:99776
Pheochromocytoma	Elevated urinary norepinephrine level, Renal artery stenosis, Proteinuria, Hyperhidrosis, Hyperca...	OMIM:171300
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Renal agenesis, HbH hemoglobin, Cryptorchidism, Hydronephrosis, Hypochromic microcytic anemia, Sh...	OMIM:301040
Occipital Horn Syndrome	Ureteral obstruction, Hydronephrosis, Bladder diverticulum, Decreased circulating ceruloplasmin c...	OMIM:304150
Melas	Nephropathy, Focal segmental glomerulosclerosis, Exercise intolerance, Proximal tubulopathy, Fail...	ORPHA:550
Fabry Disease	Nephropathy, Abnormal circulating lipid concentration, Myalgia, Renal insufficiency, Hyperlipidem...	ORPHA:324
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Elevated circulating deoxyuridine concentration, Distal amyotrophy, Slender build, Ragged-red mus...	OMIM:603041
1Q21.1 Microdeletion Syndrome	Hydronephrosis, Vesicoureteral reflux, Cryptorchidism, Failure to thrive	ORPHA:250989
Oculoauriculovertebral Spectrum With Radial Defects	Distal urethral duplication, Vesicoureteral reflux, EMG: myopathic abnormalities, Renal hypoplasi...	ORPHA:2549
Cornelia De Lange Syndrome 1	Pneumonia, Renal hypoplasia, Hypoplastic male external genitalia, Elbow flexion contracture, Redu...	OMIM:122470
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio, Bladder diverticulum, Recur...	OMIM:225400
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Myoglobinuria, Dicarboxylic aciduria	OMIM:231530
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Urinary incontinence, Aspiration pneumonia	OMIM:619482
3C Syndrome	Hydronephrosis, Hypoplasia of penis, Hypospadias	ORPHA:7
X-Linked Dominant Chondrodysplasia Punctata	Hydronephrosis, Flexion contracture, Erythroderma	ORPHA:35173
Mitochondrial Complex I Deficiency, Nuclear Type 32	Skeletal muscle atrophy, Failure to thrive, Hyponatremia, Patent urachus, Small for gestational age	OMIM:618252
Immunodeficiency 76	Recurrent pneumonia, Lymphopenia, Splenomegaly, B lymphocytopenia, Colitis, T lymphocytopenia	OMIM:619164
Agel Amyloidosis	Xerostomia, Stage 5 chronic kidney disease, Proteinuria, Abnormal spleen morphology, Keratoconjun...	ORPHA:85448
Floating-Harbor Syndrome	Atopic dermatitis, Nephrocalcinosis, Varicocele, Glandular hypospadias, Recurrent otitis media, C...	OMIM:136140
Intellectual Disability, Buenos-Aires Type	Hydronephrosis	ORPHA:3079
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Arthralgia, Abdominal pain, Elevated circulat...	ORPHA:99826
Intellectual Developmental Disorder, Autosomal Dominant 68	Urinary incontinence, Joint contracture of the 5th finger	OMIM:619934
Chronic Hiccup	Weight loss, Recurrent singultus, Abnormality of the diaphragm	ORPHA:396
Neuroblastoma	Elevated urinary homovanillic acid, Increased circulating ferritin concentration, Elevated urinar...	ORPHA:635
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Failure to thrive, Camptodactyly of finger, Hypogonadism, Decreased...	ORPHA:261349
Refractory Celiac Disease	Normocytic anemia, Hypoalbuminemia, Inflammatory abnormality of the skin, Hypomagnesemia, Microcy...	ORPHA:398063
Encephalocraniocutaneous Lipomatosis	Hydronephrosis, Pelvic kidney, Cryptorchidism	OMIM:613001
Isolated Permanent Neonatal Diabetes Mellitus	Moderate albuminuria, Ketonuria, Glycosuria, Failure to thrive, Renal tubular dysfunction, Abnorm...	ORPHA:99885
Hoxha-Aliu Syndrome	Hydronephrosis, Vesicoureteral reflux, Contracture of the proximal interphalangeal joint of the 4...	OMIM:620662
Wilson Disease	Proximal muscle weakness in lower limbs, Hepatitis, Failure to thrive, Abnormality of the menstru...	ORPHA:905
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Absent external genitalia, Aplasia of the vagina, Hydronephrosis, Aplasia of the uterus, Urethral...	OMIM:271520
Immunodeficiency 13	Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Decreased CD4:CD8 ratio, Decreased prop...	OMIM:615518
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Acute kidney injury, Oliguria, Septic arthritis, Anuria, Brain abscess, Leukocytosis, ...	ORPHA:544482
Beta-Ketothiolase Deficiency	Ketonuria, Body odor, Leukocytosis, Hyperammonemia, Hyperuricemia, Weight loss, Thrombocytosis	ORPHA:134
Immunodeficiency 23	Allergic rhinitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Failure to thrive, L...	OMIM:615816
3-Hydroxy-3-Methylglutaric Aciduria	3-Methylglutaric aciduria, Ketonuria, Leukopenia, Leukocytosis, Hyperammonemia, Hyperuricemia, Fa...	ORPHA:20
Osteopetrosis With Renal Tubular Acidosis	Failure to thrive, Pancytopenia, Distal renal tubular acidosis, Elliptocytosis, Renal tubular aci...	ORPHA:2785
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen...	OMIM:614172
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Eczematoid dermatitis, Failure to thrive, Skin rash, Fatigue, Keratoconjunc...	ORPHA:79128
Bladder Exstrophy And Epispadias Complex	Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bifid clitoris, Bladder exstrophy, Epis...	OMIM:600057
Autosomal Dominant Spastic Paraplegia Type 37	Urinary urgency	ORPHA:171612
Polymyositis	Myalgia, Elevated circulating creatine kinase concentration, Arthralgia, Abnormal renal tubule mo...	ORPHA:732
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Urinary incontinence, Multiple joint contractures	ORPHA:447997
Q Fever	Pneumonia, Granuloma, Hepatitis, Osteomyelitis, Hepatosplenomegaly, Myalgia, Cholecystitis, Splen...	ORPHA:781
Branchio-Oculo-Facial Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Renal agenesis	ORPHA:1297
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Failure to thrive, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Abnormal bladder morpho...	ORPHA:453499
8P Inverted Duplication/Deletion Syndrome	Precocious puberty, Abnormality of the urinary system, Small hypothenar eminence, Contractures of...	ORPHA:96092
Addison Disease	Arthralgia, Weight loss, Hypoparathyroidism, Premature ovarian insufficiency, Abdominal pain, Ren...	ORPHA:85138
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Fatigue, Hyperhidrosis, Splenomegaly, Weight loss	ORPHA:86893
Pallister-Hall Syndrome	Precocious puberty, Renal hypoplasia, Hydroureter, Decreased response to growth hormone stimulati...	OMIM:146510
Galloway-Mowat Syndrome 1	Focal segmental glomerulosclerosis, Hypoalbuminemia, Joint contracture of the hand, Renal insuffi...	OMIM:251300
Lujo Hemorrhagic Fever	Oliguria, Chest pain, Lymphopenia, Myalgia, Renal insufficiency, Skin rash, Maculopapular exanthe...	ORPHA:319213
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Unilateral renal agenesis, Ankle flexion contracture, Hypospadias, Failure to thrive, Cryptorchid...	ORPHA:464311
Diphallia	Penoscrotal transposition, Renal malrotation, Bifid scrotum, Horseshoe kidney, Distal urethral du...	ORPHA:227
Vater/Vacterl Association	Renal agenesis, Failure to thrive, Vesicoureteral reflux, Ureteropelvic junction obstruction, Hyd...	OMIM:192350
Frontometaphyseal Dysplasia 1	Ankle flexion contracture, Hypoplasia of the musculature, Hydroureter, Skeletal muscle atrophy, I...	OMIM:305620
Classic Hodgkin Lymphoma	Chest pain, Skin rash, Splenomegaly, Fatigue, Weight loss, Hyperhidrosis, Bone pain	ORPHA:391
Caroli Disease	Leukocytosis, Splenomegaly, Abdominal rigidity, Cholangitis, Weight loss, Conjugated hyperbilirub...	ORPHA:53035
Oculocerebrorenal Syndrome Of Lowe	Periodontitis, Cryptorchidism, Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Chro...	ORPHA:534
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Obesity, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Micropenis, Pelvic kidney	OMIM:618653
Acute Myelomonocytic Leukemia	Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia	ORPHA:517
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Bladder diverticulum, Type 1 muscle fiber predominance, Skeletal muscle atrophy, Myopathy	OMIM:614557
Tarp Syndrome	Horseshoe kidney, Hydronephrosis, Failure to thrive	OMIM:311900
Eosinophilic Gastroenteritis	Allergic rhinitis, Atopic dermatitis, Hypoalbuminemia, Leukocytosis, Eosinophilia, Weight loss, E...	ORPHA:2070
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Chronic mucocutaneous candi...	OMIM:102700
Kabuki Syndrome	Precocious puberty, Abnormal localization of kidney, Failure to thrive, Crossed fused renal ectop...	ORPHA:2322
Kufor-Rakeb Syndrome	Leg muscle stiffness, Fatigue, Hypomimic face, Urinary incontinence, Bowel incontinence	ORPHA:306674
Roussy-Lévy Syndrome	Urinary bladder sphincter dysfunction	ORPHA:3115
Autosomal Dominant Spastic Paraplegia Type 3	Urinary urgency	ORPHA:100984
Intellectual Developmental Disorder, Autosomal Dominant 53	Hydronephrosis, Micropenis, Cryptorchidism	OMIM:617798
Crimean-Congo Hemorrhagic Fever	Morbilliform rash, Pancytopenia, Hematuria, Arthralgia, Erythema nodosum, Neutrophilia, Abdominal...	ORPHA:99827
Lumbar Syndrome	Renal agenesis, Bifid scrotum, Vesicoureteral reflux, Cryptorchidism, Renal duplication, Hypoplas...	ORPHA:83628
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Asthenia, Hypereosinophilia, Leukocytosis, Night sweats, Arthralgia, Weight lo...	ORPHA:2902
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Diastasis recti, Hydronephrosis, Wrist flexion contracture, Flexion contracture of finger, Campto...	ORPHA:254528
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Clitoral hypertrophy, Decreased fertility, Weight loss, Renal salt wasting, Hyperkalemia, Decreas...	ORPHA:90794
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Cachexia	ORPHA:93941
Giant Cell Arteritis	Myalgia, Renal insufficiency, Hematuria, Gangrene, Arthralgia, Fatigue, Hyperhidrosis, Arthritis,...	ORPHA:397
Dyrk1A-Related Intellectual Disability Syndrome	Unilateral renal agenesis, Hypospadias, Eczematoid dermatitis, Failure to thrive, Multiple joint ...	ORPHA:464306
Neurodegeneration With Brain Iron Accumulation 1	Urinary incontinence, Myopathy, Acanthocytosis, Decreased muscle mass	OMIM:234200
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperbilirubinemia, Cryptorchidism, Hypocalcemia, Hydronephrosis, Anemia, Thrombocytopenia, Micro...	ORPHA:163979
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Leukocytosis, Splenomegaly, Fatigue, Weight loss, Thrombocytopenia, Abnormal neut...	ORPHA:3226
Pelvis-Shoulder Dysplasia	Hydronephrosis, Ambiguous genitalia, Camptodactyly of finger	ORPHA:2839
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia, Arthritis	ORPHA:2582
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Functional abnormality of the bladder, Eczematoid dermatiti...	ORPHA:391487
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan...	ORPHA:324964
Kawasaki Disease	Hypoalbuminemia, Sterile pyuria, Hepatitis, Conjunctivitis, Leukocytosis, Skin rash, Cholecystiti...	ORPHA:2331
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Eczematoid dermatitis,...	OMIM:619510
Inflammatory Bowel Disease (Crohn Disease) 1	Inflammation of the large intestine, Recurrent aphthous stomatitis, Crohn's disease, Weight loss,...	OMIM:266600
Erythrokeratodermia Variabilis	Weight loss, Skin rash, Abnormal testis morphology	ORPHA:317
Menkes Disease	Bladder diverticulum, Aplasia/Hypoplasia of the abdominal wall musculature, Fatigue, Osteomyelitis	ORPHA:565
Developmental Delay With Or Without Dysmorphic Facies And Autism	Small scrotum, Renal hypoplasia, Microphallus, Vesicoureteral reflux, Congenital diaphragmatic he...	OMIM:618454
Isaacs Syndrome	Weight loss, Calf muscle hypertrophy, Hyperhidrosis	ORPHA:84142
Okamoto Syndrome	Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Splenomegaly, Hydronephrosis, Ur...	ORPHA:2729
Amelogenesis Imperfecta, Type Ig	Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis	OMIM:204690
Cat Eye Syndrome	Horseshoe kidney, Hydronephrosis, Vesicoureteral reflux, Renal agenesis	OMIM:115470
Oculogastrointestinal Muscular Dystrophy	Cachexia, Skeletal muscle atrophy, Myopathy	ORPHA:1876
X-Linked Creatine Transporter Deficiency	Cachexia, Abnormal circulating creatine concentration	ORPHA:52503
Rat-Bite Fever	Lymphadenitis, Morbilliform rash, Pustule, Arthralgia, Oligoarthritis, Weight loss, Erythema nodo...	ORPHA:31205
Basel-Vanagaite-Smirin-Yosef Syndrome	Recurrent pneumonia, Male urethral meatus stenosis, Contracture of the proximal interphalangeal j...	ORPHA:464738
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly,...	ORPHA:169154
Sotos Syndrome	Decreased fertility, Cryptorchidism, Hip contracture, Abnormality of the kidney, Acute lymphoblas...	ORPHA:821
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormality of iron homeostasis, Decreased muscle mass, Increased circulating ferritin concentrat...	ORPHA:465508
Short Stature, Microcephaly, And Endocrine Dysfunction	Unilateral renal agenesis, Renal hypoplasia, Abnormal circulating lipid concentration, Lymphopeni...	OMIM:616541
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Genital ulcers, Lymphopenia, Skin rash, Thrombocytopenia, Colitis, Hemolytic anemia, Anterior uve...	OMIM:616744
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Failure to thrive, Ureteropelvic junction obstruction, Cryptorchidism, Hy...	ORPHA:444072
Nephrogenic Diabetes Insipidus	Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Renal insufficiency, Hypos...	ORPHA:223
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydronephrosis, Abnormality of the upper urinary tract, Hydroureter, Failure to thrive	ORPHA:2995
Opitz Gbbb Syndrome	Abnormality of the urinary system, Bifid scrotum, Vesicoureteral reflux, Congenital diaphragmatic...	ORPHA:2745
Xq28 (MECP2) duplication	Functional abnormality of the bladder	DECIPHER:45
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Hydronephrosis, Vesicoureteral reflux	OMIM:620663
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydronephrosis, Ureteral triplication	OMIM:104350
7Q11.23 Microduplication Syndrome	Unilateral renal agenesis, Hypospadias, Aplasia/hypoplasia of the uterus, Obesity, Congenital dia...	ORPHA:96121
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Proximal muscle weakness in lower limbs, Recurrent aspiration pneumonia, Abnormal renal collectin...	ORPHA:280633
Gabriele-De Vries Syndrome	Ureteropelvic junction obstruction, Cryptorchidism, Hydronephrosis, Distal arthrogryposis, Facial...	OMIM:617557
Liver Disease, Severe Congenital	Recurrent otitis media, Hyperbilirubinemia, Hypospadias, Hypoproteinemia, Aminoaciduria, Eczemato...	OMIM:619991
Infantile Krabbe Disease	Cachexia, Failure to thrive, Shoulder girdle muscle weakness	ORPHA:206436
Autosomal Dominant Severe Congenital Neutropenia	Pneumonia, Periodontitis, Aplastic anemia, Lymphopenia, Recurrent aphthous stomatitis, Acute lymp...	ORPHA:486
Fusariosis	Pneumonia, Keratitis, Granuloma, Brain abscess, Fasciitis, Chest pain, Osteomyelitis, Myalgia, Ab...	ORPHA:228119
Ileal Neuroendocrine Tumor	Hydronephrosis, Episodic abdominal pain, Iron deficiency anemia, Weight loss, Chronic fatigue	ORPHA:100078
Dubowitz Syndrome	Eczematoid dermatitis, Abnormal female external genitalia morphology, Cryptorchidism, Hypoparathy...	ORPHA:235
Autosomal Recessive Spastic Paraplegia Type 15	Functional abnormality of the bladder	ORPHA:100996
Thakker-Donnai Syndrome	Hydronephrosis, Rectovaginal fistula, Congenital diaphragmatic hernia	ORPHA:1780
Au-Kline Syndrome	Chronic kidney disease, Dilatation of the renal pelvis, Failure to thrive, Vesicoureteral reflux,...	OMIM:616580
White-Kernohan Syndrome	Hydroureter, Horseshoe kidney, Recurrent otitis media, Obesity, Hydronephrosis, Hypothyroidism, R...	OMIM:619426
Distal Deletion 12Q	Congenital hypertrophy of left ventricle, Elbow flexion contracture, Unilateral cryptorchidism, F...	ORPHA:96149
Bannayan-Riley-Ruvalcaba Syndrome	Uterine neoplasm, Skeletal muscle atrophy, Myopathy, Hashimoto thyroiditis, Cachexia	ORPHA:109
Undifferentiated Pleomorphic Sarcoma	Fatigue, Weight loss	ORPHA:2023
15q26 overgrowth syndrome	Duplication of renal pelvis, Renal agenesis, Camptodactyly of finger, Horseshoe kidney, Vesicoure...	DECIPHER:81
Otopalatodigital Syndrome Type 2	Failure to thrive, Camptodactyly of finger, Ureteral obstruction, Hydronephrosis, Hypospadias	ORPHA:90652
Stromme Syndrome	Hydronephrosis, Bilateral renal hypoplasia, Accessory spleen, Myopathy	OMIM:243605
Alström Syndrome	Chronic kidney disease, Testicular fibrosis, Decreased circulating T4 concentration, Hepatospleno...	ORPHA:64
Schinzel-Giedion Midface Retraction Syndrome	Small scrotum, Hydroureter, Failure to thrive, Ureteral stenosis, Hypoplastic labia minora, Hydro...	OMIM:269150
Fryns Syndrome	Joint contracture of the hand, Renal agenesis, Polysplenia, Bifid scrotum, Large for gestational ...	OMIM:229850
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Weight loss, Bronchiectasis	ORPHA:1164
Chronic Beryllium Disease	Fatigue, Abnormal proportion of CD4-positive T cells, Weight loss, Lymphocytic interstitial pneum...	ORPHA:133
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Lymphadenitis, Recurre...	OMIM:618986
Tarp Syndrome	Failure to thrive, Extramedullary hematopoiesis, Horseshoe kidney, Cryptorchidism, Hydronephrosis	ORPHA:2886
Peripheral Primitive Neuroectodermal Tumor	Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Lower limb muscle weakness, Elevat...	ORPHA:370348
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Recurrent pneumonia, Hepatitis, Failure to thrive secondary to recurrent infections, L...	ORPHA:169160
Craniofacioskeletal Syndrome	Hydronephrosis, Hypospadias, Cryptorchidism, Hypocalcemia	OMIM:300712
15Q Overgrowth Syndrome	Contracture of the proximal interphalangeal joint of the 2nd finger, Ureterovesical stenosis, Hor...	ORPHA:314585
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Hematuria, Proteinuria, Fatigue, Thrombocytopenia, Anemia, Bone pain	ORPHA:77261
Hypoplasminogenemia	Periodontitis, Abnormality of the ovary, Nephrolithiasis, Decreased level of plasminogen, Abnorma...	ORPHA:722
Campomelic Dysplasia	Hydronephrosis, Male pseudohermaphroditism, Ambiguous genitalia	ORPHA:140
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Pneumonia, Abnormally low T cell receptor excision circle level, Reduced natural killer cell coun...	ORPHA:276
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Peritoneal Cystic Mesothelioma	Metrorrhagia, Peritonitis, Weight loss, Dyspareunia, Abdominal pain, Menorrhagia	ORPHA:168816
Sting-Associated Vasculopathy, Infantile-Onset	Skeletal muscle atrophy, Pustular rash, Failure to thrive, Lymphopenia, Leukopenia, Malar rash, S...	OMIM:615934
Cardiofaciocutaneous Syndrome 1	Atopic dermatitis, Failure to thrive, Splenomegaly, Hydronephrosis, Hyperhidrosis	OMIM:115150
Rett Syndrome	Cachexia, Skeletal muscle atrophy	OMIM:312750
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Uveitis, Erysipelas, Fasciitis, Chest pain, Myalgia, Leukocytosis, Skin rash, Splenomegaly, Orchi...	ORPHA:32960
Cyclic Neutropenia	Periodontitis, Lymphopenia, Cyclic neutropenia, Otitis media, Peritonitis, Fatigue, Enterocolitis...	ORPHA:2686
Smith-Lemli-Opitz Syndrome	Small scrotum, Recurrent otitis media, Cryptorchidism, Duplicated collecting system, Hypospadias,...	OMIM:270400
Riddle Syndrome	Enuresis nocturna, Pneumonia, Recurrent pneumonia, Otitis media, Recurrent sinusitis, Chronic sin...	ORPHA:420741
Teebi-Shaltout Syndrome	Horseshoe kidney, Camptodactyly, Hydronephrosis, Ureteral stenosis	OMIM:272950
Proteasome-Associated Autoinflammatory Syndrome 3	Failure to thrive, Lymphopenia, Skin rash, Splenomegaly, Hypertriglyceridemia, Myositis, Arthralg...	OMIM:617591
Wiskott-Aldrich Syndrome	Nephropathy, Inflammation of the large intestine, Abnormal eosinophil morphology, Acute leukemia,...	ORPHA:906
Intestinal Dysmotility Syndrome	Weight loss, Failure to thrive	OMIM:620045
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Graves disease, Hepatitis, Adrenocorticotropin deficient adrenal insufficiency...	ORPHA:199299
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Hydronephrosis, Abnormality of thyroid physiology, Renal dysplasia	OMIM:300968
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport...	ORPHA:3261
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Increased circulating ferritin conce...	OMIM:615846
Cousin Syndrome	Joint contracture of the hand, Ambiguous genitalia, female, Hydronephrosis, Ambiguous genitalia, ...	OMIM:260660
Hyperphosphatasia-Intellectual Disability Syndrome	Hydronephrosis	ORPHA:247262
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2	Cryptorchidism, Male urethral meatus stenosis	OMIM:616001
Lowe Oculocerebrorenal Syndrome	Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Failure ...	OMIM:309000
Gaucher Disease	Splenic infarction, Hepatitis, Decreased HDL cholesterol concentration, Increased circulating fer...	ORPHA:355
Autosomal Dominant Spastic Paraplegia Type 19	Urinary urgency	ORPHA:100999
Spastic Paraplegia 78, Autosomal Recessive	Urinary urgency	OMIM:617225
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Camptodactyly of finger, Horseshoe kidney, Diastasis recti, Congeni...	ORPHA:2092
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Inflammation of the large intestine, Reduced natural kill...	OMIM:301074
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Unilateral renal agenesis, Hydronephrosis, Thrombocytopenia, Camptodactyly, Flexion contracture, ...	ORPHA:487796
Autosomal Recessive Spastic Paraplegia Type 44	Urinary bladder sphincter dysfunction	ORPHA:320401
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Congenital Alveolar Capillary Dysplasia	Hydronephrosis, Asplenia	ORPHA:210122
Koolen-De Vries Syndrome Due To A Point Mutation	Precocious puberty, Eczematoid dermatitis, Recurrent urinary tract infections, Recurrent otitis m...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Precocious puberty, Eczematoid dermatitis, Recurrent urinary tract infections, Recurrent otitis m...	ORPHA:363958
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,...	OMIM:242700
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Eczematoid dermatitis, Failure to thrive, Contracture of the distal int...	ORPHA:83617
8P23.1 Microdeletion Syndrome	Obesity, Congenital diaphragmatic hernia, Cryptorchidism, Weight loss, Hypospadias	ORPHA:251071
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Inflammatory abnormality of the skin, Xerostomia, Hematuria, Neutropenia, Vulvodynia, Abnormal pe...	ORPHA:95455
Pseudomyxoma Peritonei	Abdominal pain, Inflammation of the large intestine, Weight loss	ORPHA:26790
Alg9-Cdg	Hypoplasia of the musculature, Hypoplasia of the bladder, Abnormal renal artery morphology, Hydro...	ORPHA:79328
Kaposi Sarcoma	Abnormality of the spleen, Fatigue, Weight loss, Skin rash	ORPHA:33276
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Lymphopenia, Recurrent sinusitis, T lymp...	OMIM:607944
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hemophagocytosis, Hepatosplenomegaly, Fatigue, Chills, Weight loss, Panniculitis	ORPHA:86884
Cardiofaciocutaneous Syndrome	Hydronephrosis, Failure to thrive in infancy, Cryptorchidism	ORPHA:1340
Raine Syndrome	Hydronephrosis, Hypophosphatemia, Arthrogryposis multiplex congenita, Hydroureter	OMIM:259775
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia, Skin rash	ORPHA:220295
Simpson-Golabi-Behmel Syndrome	Macroglossia, Multicystic kidney dysplasia, Hydroureter, Polysplenia, Camptodactyly of finger, Co...	ORPHA:373
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Unilateral renal agenesis, Renal hypoplasia, Recurrent otitis media, Lymphopenia, Pancytopenia, L...	OMIM:620654
Kyphoscoliotic Ehlers-Danlos Syndrome	Bladder diverticulum, Skeletal muscle atrophy, Myopathy	ORPHA:536545
Rheumatoid Arthritis	Digital flexor tenosynovitis, Rheumatoid arthritis, Arthralgia, Fatigue, Weight loss, Elevated ci...	OMIM:180300
Hereditary Late-Onset Parkinson Disease	Weight loss, Spastic/hyperactive bladder, Hypomimic face	ORPHA:411602
Generalized Pseudohypoaldosteronism Type 1	Atopic dermatitis, Failure to thrive in infancy, Osteomyelitis, Increased circulating renin level...	ORPHA:171876
Cockayne Syndrome A	Irregular menstruation, Failure to thrive, Hypogonadism, Renal insufficiency, Splenomegaly, Hip c...	OMIM:216400
Ménétrier Disease	Hypoalbuminemia, Asthenia, Weight loss, Hypochromic microcytic anemia, Abdominal pain, Hypoprotei...	ORPHA:2494
Occipital Horn Syndrome	Bladder diverticulum, Esophagitis, Hepatitis, Recurrent urinary tract infections	ORPHA:198
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Focal segmental glomerulosclerosis, Hypoalbuminemia, Decreased glomerular filtration rate, Renal ...	OMIM:614748
Cryptogenic Organizing Pneumonia	Chest pain, Leukocytosis, Night sweats, Arthralgia, Fatigue, Weight loss, Neutrophilia, Elevated ...	ORPHA:1302
Hereditary Acrokeratotic Poikiloderma	Abnormality of the urethra, Eczematoid dermatitis, Xerostomia, Camptodactyly of finger, Pustule, ...	ORPHA:2907
Spastic Paraplegia Type 2	Spastic/hyperactive bladder	ORPHA:99015
Malignant Atrophic Papulosis	Arteritis, Chest pain, Abnormality of the lower urinary tract, Peritonitis, Fatigue, Weight loss,...	ORPHA:679
Pierson Syndrome	Skeletal muscle atrophy, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Dif...	OMIM:609049
Mowat-Wilson Syndrome	Multicystic kidney dysplasia, Recurrent otitis media, Cryptorchidism, Decreased body weight, Chor...	ORPHA:2152
Spinocerebellar Ataxia 25	Urinary urgency	OMIM:608703
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Webbed penis, Multicystic kidney dysplasia, Failure to thrive, Bifid scrotum, Recurrent otitis me...	ORPHA:261537
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Unilateral renal agenesis, Elevated 8(9)-cholestenol, Hydronephrosis, Elevated 8-dehydrocholester...	OMIM:308050
Holoprosencephaly 3	Hydronephrosis	OMIM:142945
Schinzel-Giedion Syndrome	Recurrent pneumonia, Central hypothyroidism, Failure to thrive in infancy, Abnormality of the ure...	ORPHA:798
Cockayne Syndrome B	Failure to thrive, Renal insufficiency, Splenomegaly, Cryptorchidism, Proteinuria, Severe failure...	OMIM:133540
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Exocrine pancreatic insufficiency, Renal insufficiency, Proteinuria...	ORPHA:2750
Hermansky-Pudlak Syndrome	Menometrorrhagia, Renal insufficiency, Fatigue, Weight loss, Neutropenia, Abdominal pain	ORPHA:79430
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Recurrent pneumonia, Reduced natural killer cell count, Chronic mucocutaneous ...	OMIM:619752
Digeorge Syndrome	Unilateral renal agenesis, Recurrent pneumonia, Recurrent otitis media, Obesity, Renal insufficie...	OMIM:188400
Apert Syndrome	Cryptorchidism, Hydronephrosis, Hyperhidrosis, Vaginal atresia, Acne, Chronic otitis media	OMIM:101200
Inflammatory Bowel Disease 11	Abdominal pain, Inflammation of the large intestine, Weight loss	OMIM:191390
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Chest pain, Gonadal calcification, Decreased fertility, Hematuria, Fatig...	ORPHA:60025
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphadenitis, Failure to thrive, Lymphopenia, Hepatosplenomegaly, Decreas...	ORPHA:331206
Nodular Non-Suppurative Panniculitis	Myalgia, Splenomegaly, Arthralgia, Weight loss, Inflammatory abnormality of the eye, Abdominal pa...	ORPHA:33577
Spastic Paraplegia Type 7	Urinary urgency	ORPHA:99013
Benign Recurrent Intrahepatic Cholestasis	Abdominal pain, Fatigue, Pancreatitis, Weight loss	ORPHA:65682
Follicular Lymphoma	Night sweats, Fatigue, Weight loss, Splenomegaly	ORPHA:545
Chronic Graft Versus Host Disease	Xerostomia, Abnormal vagina morphology, Urinary bladder inflammation, Fasciitis, Chest pain, Panc...	ORPHA:99921
Pandas	Enuresis	ORPHA:66624
Juvenile Polyposis Of Infancy	Hypoalbuminemia, Cachexia, Freckled genitalia, Anemia, Abdominal pain, Refractory anemia	ORPHA:79076
Melnick-Needles Syndrome	Hydronephrosis, Recurrent otitis media, Failure to thrive, Ureteral stenosis	OMIM:309350
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Chest pain, Leukocytosis, Constrictive pericarditis, Weight loss, Lung abscess, ...	ORPHA:67
Holoprosencephaly	Abnormality of the urinary system, Failure to thrive in infancy, Abnormality of the spleen, Panhy...	ORPHA:2162
Proteus Syndrome	Long penis, Thymus hyperplasia, Decreased muscle mass, Myofibrillar myopathy, Splenomegaly, Enlar...	ORPHA:744
Immunodeficiency 110 With Lymphoproliferation	Recurrent pneumonia, Chronic mucocutaneous candidiasis, Lymphopenia, Recurrent aphthous stomatiti...	OMIM:614868
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Loeffler Endocarditis	Chest pain, Left ventricular hypertrophy, Fatigue, Eosinophilia, Weight loss, Pericarditis	ORPHA:75566
Robinow Syndrome	Webbed penis, Small scrotum, Multicystic kidney dysplasia, External genital hypoplasia, Cryptorch...	ORPHA:97360
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Duplicated collecting system, Joint contracture of the hand, Large for gestational age, Ureterope...	OMIM:280000
Celiac Disease, Susceptibility To, 1	Eczematoid dermatitis, Failure to thrive, Infertility, Recurrent aphthous stomatitis, Hypocalcemi...	OMIM:212750
Fanconi Anemia	Cryptorchidism, Renal hypoplasia/aplasia, Weight loss, Hypospadias, Decreased fertility in males,...	ORPHA:84
Wiskott-Aldrich Syndrome	Nephropathy, Decreased mean platelet volume, Inflammation of the large intestine, Recurrent pneum...	OMIM:301000
Immunodeficiency 31C	Skeletal muscle atrophy, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Osteomyelitis,...	OMIM:614162
Mast Cell Sarcoma	Mastocytosis, Fatigue, Weight loss, Splenomegaly	ORPHA:66661
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Pneumonia, Abnormality of the urinary system, Failure to thrive, Recurrent urinary tract infectio...	ORPHA:353281
1P36 Deletion Syndrome	Failure to thrive, Camptodactyly of finger, Abnormal female external genitalia morphology, Abnorm...	ORPHA:1606
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Multicystic kidney dysplasia, Recurrent otitis media, Cryptorchidism, Chordee, Urinary incontinen...	ORPHA:261552
Trisomy 8P	Nephrocalcinosis, Multiple joint contractures, Cryptorchidism, Hydronephrosis, Micropenis, Fetal ...	ORPHA:264450
Arachnoiditis	Urinary bladder sphincter dysfunction	ORPHA:137817
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Arthralgia, Erythema nodos...	OMIM:615688
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Myalgia, Recurrent s...	OMIM:618849
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hydroureter, Dilatation of the renal pelvis, Diastasis recti, Dilatation of the bladder, Hydronep...	OMIM:265380
Robinow Syndrome, Autosomal Recessive 1	Nephrocalcinosis, Hypoplastic labia minora, Cryptorchidism, Renal duplication, Nephrolithiasis, H...	OMIM:268310
Smith-Lemli-Opitz Syndrome	Abnormal localization of kidney, Multicystic kidney dysplasia, Clitoral hypertrophy, Ureteropelvi...	ORPHA:818
Vici Syndrome	Chronic mucocutaneous candidiasis, Failure to thrive, Lymphopenia, Leukopenia, Decreased proporti...	OMIM:242840
Cardiac Valvular Dysplasia 1	Hydronephrosis, Hydroureter, Urethral diverticulum	OMIM:212093
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hydroureter, Eczematoid dermatitis, Keratitis, Camptodactyly of finger, Failure to thrive, Episcl...	ORPHA:2273
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Abnormal mast cell morphology, Chronic myelomonocytic leukemia, Myalgia, Leuko...	ORPHA:98849
Immunodeficiency 9	Failure to thrive, Lymphopenia, Recurrent aphthous stomatitis, Myopathy, Hypoplasia of the thymus...	OMIM:612782
East Syndrome	Abnormal urinary electrolyte concentration, Renal magnesium wasting, Renal sodium wasting, Renal ...	ORPHA:199343
Spinal Arteriovenous Metameric Syndrome	Abnormality of the kidney, Urinary bladder sphincter dysfunction	ORPHA:53721
Classical Ehlers-Danlos Syndrome	Limb pain, Uterine prolapse, Bladder diverticulum, Arthralgia, Fatigue, Osteoarthritis, Cervical ...	ORPHA:287
Adult Idiopathic Neutropenia	Lymphopenia, Recurrent aphthous stomatitis, Neutropenia, Monocytosis, Monocytopenia	ORPHA:2688
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Bacterial endocarditis, Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Azoospermia,...	ORPHA:2072
Huntington Disease	Weight loss, Abnormal circulating cholesterol concentration, Decreased body mass index, Abnormal ...	ORPHA:399
Narcolepsy Type 1	Nocturia	ORPHA:2073
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome...	ORPHA:2968
Legius Syndrome	Acute monocytic leukemia, Male urethral meatus stenosis, Nephroblastoma, Nephrolithiasis, Ovarian...	ORPHA:137605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Multicystic kidney dysplasia, Muscular dystrophy, Decreased testicular size, Elevated circulating...	OMIM:615287
Ebola Hemorrhagic Fever	Hepatitis, Recurrent singultus, Chest pain, Lymphopenia, Leukopenia, Maculopapular exanthema, Art...	ORPHA:319218
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Type 1 muscle fiber atrophy, Hypothyroidis...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Type 1 muscle fiber atrophy, Hypothyroidis...	ORPHA:352665
Enamel-Renal Syndrome	Nephropathy, Nephrocalcinosis, Hypocalciuria, Hypophosphaturia, Renal insufficiency, Impaired ren...	ORPHA:1031
Autosomal Recessive Robinow Syndrome	Multicystic kidney dysplasia, Hypoplastic female external genitalia, Camptodactyly of finger, Cry...	ORPHA:1507
Pulmonary Non-Tuberculous Mycobacterial Infection	Asthenia, Chest pain, Weight loss, Bronchiectasis	ORPHA:411703
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Decreased proportion of CD3-positive T cells, Hypoc...	ORPHA:90362
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Diastasis recti, Cryptorchidism, Hydronephrosis, Distal arthrogryposis, Nephrotic syndrome, Recur...	OMIM:601776
Malignant Peritoneal Mesothelioma	Abdominal pain, Peritonitis, Weight loss	ORPHA:168811
Syndromic Diarrhea	Abnormality of iron homeostasis, Renal hypoplasia, Lymphopenia, Splenomegaly, Hypoplasia of the t...	ORPHA:84064
Jacobsen Syndrome	Multicystic kidney dysplasia, Eczematoid dermatitis, Cryptorchidism, Hydronephrosis, Thrombocytop...	ORPHA:2308
Aymé-Gripp Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Proteinuria, Camptodactyly, Pericarditis	ORPHA:1272
Primary Sclerosing Cholangitis	Hypoalbuminemia, Uveitis, Hepatitis, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Fatig...	ORPHA:171
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Psoriasiform dermatitis, Eosin...	OMIM:617237
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Eczematoid dermatitis, Lymphopenia, Psoriasiform dermatitis, Autoimmune hemol...	OMIM:616100
Pleural Mesothelioma	Chest pain, Weight loss, Constitutional symptom	ORPHA:50251
Chime Syndrome	Hydronephrosis, Acute leukemia, Abnormality of the kidney	ORPHA:3474
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Precocious puberty, Decreased circulating iron concentration, Increased circulating prolactin con...	ORPHA:438213
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss, Erythroderma	ORPHA:312
Spastic Paraplegia 26, Autosomal Recessive	Urinary urgency	OMIM:609195
Gabriele-De Vries Syndrome	Decreased response to growth hormone stimulation test, Distal lower limb amyotrophy, Ureteropelvi...	ORPHA:506358
Reactive Arthritis	Inflammation of the large intestine, Recurrent urinary tract infections, Osteomyelitis, Recurrent...	ORPHA:29207
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss	ORPHA:2198
Cap Polyposis	Atrophic gastritis, Abdominal pain, Weight loss	ORPHA:160148
Kabuki Syndrome 1	Anoperineal fistula, Recurrent otitis media, Crossed fused renal ectopia, Congenital hypothyroidi...	OMIM:147920
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Renal hypoplasia, Decreased testicular size, Leukocytosis, Hypoplasia of the ovary, Abdominal obe...	OMIM:619321
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Pneumonia, Abnormally low T cell receptor excision circle level, Genital ulcers, Failure to thriv...	OMIM:602450
Tetrasomy 9P	Recurrent urinary tract infections, Horseshoe kidney, Glue ear, Cryptorchidism, Myositis, Hydrone...	ORPHA:3310
3Mc Syndrome 1	Hydronephrosis, Diastasis recti	OMIM:257920
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Hepatosplenomegaly, Myalgia, Knee osteoarthritis, Synovitis, Arthralgia, Irid...	ORPHA:85408
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel...	OMIM:616005
Immunodeficiency 82 With Systemic Inflammation	Anoperineal fistula, Pustular rash, Recurrent otitis media, Weight loss, Elevated circulating C-r...	OMIM:619381
Spinal Cord Injury	Urinary retention, Urinary bladder sphincter dysfunction	ORPHA:90058
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Urinary urgency	OMIM:619286
Gm1 Gangliosidosis	Failure to thrive, Aspiration pneumonia, Camptodactyly of finger, Hepatosplenomegaly, Abnormal sc...	ORPHA:354
Huntington Disease-Like 2	Weight loss	OMIM:606438
Inflammatory Pseudotumor Of The Liver	Asthenia, Abdominal pain, Weight loss	ORPHA:90003
Secondary Short Bowel Syndrome	Central hypothyroidism, Failure to thrive, Primary hypothyroidism, Low plasma citrulline, Enteroc...	ORPHA:95427
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Moderate albuminuria, Small scrotum, Hypogonadism, External genital hypoplasia, Obesity, Cryptorc...	OMIM:614231
Granulomatosis With Polyangiitis	Keratitis, Asthenia, Myalgia, Episcleritis, Gangrene, Fatigue, Weight loss, Granulomatosis, Sinus...	OMIM:608710
Pneumocystosis	Interstitial pneumonitis, Weight loss, Acute infectious pneumonia, Abnormal neutrophil count, Chr...	ORPHA:723
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Chest pain, Weight loss, Bronchiectasis	ORPHA:79127
Bullous Pemphigoid	Psoriasiform dermatitis, Weight loss, Eczematoid dermatitis	ORPHA:703
Stickler Syndrome	Uveitis, Skeletal muscle atrophy, Slender build, Cachexia, Arthralgia, Osteoarthritis, Macrogloss...	ORPHA:828
Wiedemann-Rautenstrauch Syndrome	Increased circulating prolactin concentration, Recurrent otitis media, Slender build, Cryptorchid...	ORPHA:3455
Distal Deletion 10Q	Acute kidney injury, Functional abnormality of the bladder, Horseshoe kidney, Vesicoureteral refl...	ORPHA:96148
Orofaciodigital Syndrome I	Proteinuria, Polycystic kidney dysplasia, Ovarian cyst	OMIM:311200
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Recurrent pneumonia, Absent natural killer cells, Rectovaginal fistula, Failure to thrive in infa...	ORPHA:35078
Mandibuloacral Dysplasia Progeroid Syndrome	Focal segmental glomerulosclerosis, Proteinuria, Left ventricular hypertrophy, Hypertriglyceridem...	OMIM:619127
Autosomal Dominant Spastic Paraplegia Type 10	Urinary urgency, Spastic/hyperactive bladder	ORPHA:100991
Marfan Syndrome	Skeletal muscle atrophy, Slender build, Myalgia, Cachexia, Arthralgia/arthritis, Chronic fatigue	ORPHA:558
Lacrimoauriculodentodigital Syndrome	Renal hypoplasia, Xerostomia, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Keratoconjun...	ORPHA:2363
Rubinstein-Taybi Syndrome 1	Accessory spleen, Failure to thrive, Bilateral cryptorchidism, Cryptorchidism, Hydronephrosis, Pr...	OMIM:180849
Charge Syndrome	Bifid scrotum, Abnormal morphology of female internal genitalia, Horseshoe kidney, Vesicoureteral...	ORPHA:138
Arboleda-Tham Syndrome	Recurrent aspiration pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Bilat...	OMIM:616268
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Urinary urgency	OMIM:601338
Complex Regional Pain Syndrome	Allodynia	ORPHA:83452
Knobloch Syndrome 1	Hydronephrosis, Bifid ureter, Duplicated collecting system, Renal duplication	OMIM:267750
Blepharophimosis-Impaired Intellectual Development Syndrome	Enuresis, Hypospadias, Recurrent urinary tract infections	OMIM:619293
Graves Disease	Graves disease, Increased circulating free T3, Weight loss, Increased circulating free T4 concent...	OMIM:275000
Cushing Disease	Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Leukocytosis...	ORPHA:96253
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Small for gestational age, Failure to thrive, Exocrine pancreatic insuffici...	OMIM:243800
Congenital Disorder Of Glycosylation, Type Iiw	Moderate albuminuria, Failure to thrive, Recurrent otitis media, Microcytic anemia, Splenomegaly,...	OMIM:619525
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Bone Dysplasia, Lethal Holmgren Type	Anemia, Weight loss, Failure to thrive	ORPHA:1842
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Proteinuria, Encopresis, Cryptorchidism, Precocious puberty	OMIM:616682
Hydrolethalus Syndrome 1	Accessory spleen, Abnormal vagina morphology, Hydronephrosis, Agenesis of the diaphragm, Bifid ut...	OMIM:236680
Thymic Carcinoma	Chest pain, Fatigue, Weight loss, Hyperhidrosis	ORPHA:99868
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Chest pain, Pancytopenia, Splenomegaly, Iridocyclitis, Hyper...	OMIM:181000
Cardiac-Urogenital Syndrome	Accessory spleen, Bifid scrotum, Congenital diaphragmatic hernia, Cryptorchidism, Aplasia of the ...	OMIM:618280
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Pneumonia, Abnormality of the urinary system, Failure to thrive, Recurrent urinary tract infectio...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Pneumonia, Abnormality of the urinary system, Failure to thrive, Recurrent urinary tract infectio...	ORPHA:353277
Spastic Paraplegia 20, Autosomal Recessive	Urinary urgency	OMIM:275900
Alexander Disease Type Ii	Urinary bladder sphincter dysfunction	ORPHA:363722
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Weight loss, Hyperthyroidism, Rhabdomyolysis	OMIM:188580
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Inflammation of the large intestine, Dilatation of the renal pelvis, Lymphopenia, Knee flexion co...	OMIM:619708
Tetraamelia Syndrome 1	Absent external genitalia, Renal agenesis, Congenital diaphragmatic hernia, Urethral atresia, Vag...	OMIM:273395
Juvenile Dermatomyositis	Myalgia, Skin rash, Elevated circulating creatine kinase concentration, Myositis, Arthralgia, Fat...	ORPHA:93672
Campomelic Dysplasia	Failure to thrive, Contracture of the distal interphalangeal joint of the fingers, Hydronephrosis...	OMIM:114290
Spastic Paraplegia 84, Autosomal Recessive	Urinary urgency	OMIM:619621
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s...	ORPHA:79500
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Urinary bladder sphincter dysfunction	ORPHA:52430
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypocalciuria, Enuresis, Renal sodium wasting, Polyuria, Renal salt wasting, Renal potassium wasting	OMIM:612780
Budd-Chiari Syndrome	Cholecystitis, Splenomegaly, Peritonitis, Weight loss, Abdominal pain	ORPHA:131
Mesomelia-Synostoses Syndrome	Hydronephrosis	OMIM:600383
Intellectual Disability-Alacrima-Achalasia Syndrome	Enuresis	ORPHA:289483
Zollinger-Ellison Syndrome	Hyperparathyroidism, Increased circulating cortisol level, Increased urinary cortisol level, Esop...	ORPHA:913
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss, Aspiration pneumonia	ORPHA:216866
Hirschsprung Disease	Failure to thrive in infancy, Abdominal pain, Weight loss	ORPHA:388
Charge Syndrome	Renal hypoplasia, Renal agenesis, Horseshoe kidney, Lymphopenia, Decreased response to growth hor...	OMIM:214800
Peters Plus Syndrome	Multicystic kidney dysplasia, Congenital hypothyroidism, Cryptorchidism, Renal duplication, Renal...	ORPHA:709
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormality of the urinary system, Hydroureter, Cryptorchidism, Hydronephrosis, Abnormality of th...	ORPHA:2636
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia, Skeletal muscle atrophy	ORPHA:1969
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ...	ORPHA:103910
Hennekam Syndrome	Erysipelas, Camptodactyly of finger, Horseshoe kidney, Lymphopenia, Splenomegaly, Hypocalcemia, E...	ORPHA:2136
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hypoalbuminemia, Dilatation of the renal pelvis, Failure to thrive, Hyperechogenic kidneys, Incre...	OMIM:619534
Ataxia-Telangiectasia	Failure to thrive, Lymphopenia, Abnormal B cell count, Decreased proportion of CD4-positive helpe...	OMIM:208900
Spinocerebellar Ataxia, Autosomal Recessive 7	Urinary urgency	OMIM:609270
Kikuchi-Fujimoto Disease	Leukopenia, Myalgia, Malar rash, Skin rash, Splenomegaly, Night sweats, Pustule, Anemia, Arthralg...	ORPHA:50918
Seckel Syndrome	Cachexia	ORPHA:808
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic/hyperactive bladder	ORPHA:137898
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Renal hypoplasia, Severe B lymphocytopenia, Exocrine pancreatic insufficiency, ...	OMIM:620005
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Absent natural killer cells, Failure to thrive, Recurrent otitis media, Lymphopenia, I...	OMIM:600802
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Renal hypoplasia, Uterus didelphys, Cryptorchidism, Hydronephrosis, Renal cyst, Ambiguous genital...	ORPHA:93271
Acquired Hypertrichosis Lanuginosa	Macroglossia, Ovarian neoplasm, Weight loss	ORPHA:2221
Nocardiosis	Pneumonia, Lymphadenitis, Cutaneous abscess, Keratitis, Liver abscess, Brain abscess, Chest pain,...	ORPHA:31204
Genitopatellar Syndrome	Small scrotum, Multicystic kidney dysplasia, Clitoral hypertrophy, Enlarged labia minora, Cryptor...	OMIM:606170
Vascular Ehlers-Danlos Syndrome	Periodontitis, Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Hypokalemia, Bladder...	ORPHA:286
Poems Syndrome	Polycythemia, Increased circulating prolactin concentration, Hypogonadism, Primary adrenal insuff...	ORPHA:2905
Robinow Syndrome, Autosomal Dominant 1	Cryptorchidism, Renal duplication, Hydronephrosis, Hypoplastic labia majora, Micropenis, Macroglo...	OMIM:180700
Meckel Syndrome	Accessory spleen, Multicystic kidney dysplasia, Cryptorchidism, True hermaphroditism, Male pseudo...	ORPHA:564
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Weight loss, Pain	ORPHA:704
Trigeminal Neuralgia	Allodynia	ORPHA:221091
Coffin-Siris Syndrome 1	Renal hypoplasia, Clitoral hypertrophy, Hydroureter, Congenital diaphragmatic hernia, Cryptorchid...	OMIM:135900
Common Variable Immunodeficiency	Pneumonia, Failure to thrive in infancy, Lymphopenia, Otitis media, Splenomegaly, Arthralgia, Chr...	ORPHA:1572
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Weight loss, Increased circulating free T4 concentration, Hyperthyroidism, Increased...	OMIM:613239
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Combined Oxidative Phosphorylation Deficiency 55	Proximal tubulopathy, Organic aciduria, Stage 3 chronic kidney disease, Medullary nephrocalcinosi...	OMIM:619743
Cushing Syndrome Due To Ectopic Acth Secretion	Increased circulating cortisol level, Increased urinary cortisol level, Asthenia, Lymphopenia, Le...	ORPHA:99889
Bronchial Neuroendocrine Tumor	Pneumonia, Increased circulating cortisol level, Chest pain, Night sweats, Weight loss, Elevated ...	ORPHA:97287
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Small scrotum, Recurrent pneumonia, Eczematoid dermatitis, Hypocalcemia, Hydronephrosis	OMIM:620330
Tsh-Secreting Pituitary Adenoma	Increased circulating prolactin concentration, Central adrenal insufficiency, Decreased fertility...	ORPHA:91347
Simpson-Golabi-Behmel Syndrome, Type 1	Duplication of renal pelvis, Polysplenia, Diastasis recti, Congenital diaphragmatic hernia, Nephr...	OMIM:312870
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Gitelman Syndrome	Hypocalciuria, Enuresis, Renal magnesium wasting, Polyuria, Nocturia, Renal potassium wasting	OMIM:263800
Anaplastic Thyroid Carcinoma	Abnormal skeletal muscle morphology, Weight loss, Pain	ORPHA:142
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Granuloma, Renal hypoplasia/aplasia, Hydronephrosis, Abnormal renal morphology, Sinusitis	ORPHA:363700
Multiple Endocrine Neoplasia Type 1	Impairment of activities of daily living, Increased circulating cortisol level, Decreased male li...	ORPHA:652
Focal Dermal Hypoplasia	Horseshoe kidney, Bifid ureter, Diastasis recti, Congenital diaphragmatic hernia, Cryptorchidism,...	OMIM:305600
Congenital Fiber-Type Disproportion Myopathy	Ankle flexion contracture, Hypoplasia of the musculature, Failure to thrive, Shoulder girdle musc...	ORPHA:2020
Peters-Plus Syndrome	Renal hypoplasia, Diastasis recti, Cryptorchidism, Decreased body weight, Hydronephrosis, Hypopla...	OMIM:261540
Congenital Tufting Enteropathy	Punctate keratitis, Weight loss, Failure to thrive, Arthritis	ORPHA:92050
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Exerc...	OMIM:607459
Osteogenesis Imperfecta, Type Vii	Hydronephrosis	OMIM:610682
Spinocerebellar Ataxia Type 10	Urinary urgency	ORPHA:98761
Congenital-Onset Steinert Myotonic Dystrophy	Enuresis	ORPHA:589821
Acrodermatitis Enteropathica	Failure to thrive, Pustule, Weight loss, Conjunctivitis, Cheilitis, Blepharitis	ORPHA:37
Acrofacial Dysostosis, Cincinnati Type	Failure to thrive, Bilateral cryptorchidism, Recurrent otitis media, Cryptorchidism, Decreased bo...	OMIM:616462
Pelizaeus-Merzbacher Disease	Urinary urgency	OMIM:312080
Malt Lymphoma	Posterior uveitis, Fatigue, Weight loss, Hyperhidrosis, Anemia, Abdominal pain	ORPHA:52417
Polycythemia Vera	Acute leukemia, Polycythemia, Erythromelalgia, Leukocytosis, Splenomegaly, Arthralgia, Fatigue, W...	ORPHA:729
Machado-Joseph Disease	Urinary bladder sphincter dysfunction	OMIM:109150
Osteosarcoma	Weight loss, Pain	ORPHA:668
Anterior Cutaneous Nerve Entrapment Syndrome	Allodynia	ORPHA:51890
Pmm2-Cdg	Hypoalbuminemia, Failure to thrive, Increased circulating prolactin concentration, Aspiration pne...	ORPHA:79318
Perry Syndrome	Weight loss	ORPHA:178509
Whim Syndrome	Pneumonia, Recurrent pneumonia, Lymphadenitis, Parotitis, Abnormal neutrophil morphology, Lymphop...	ORPHA:51636
Tropical Endomyocardial Fibrosis	Hypoalbuminemia, Splenomegaly, Eosinophilia, Fatigue, Cachexia, Myocardial calcification	ORPHA:75565
Spastic Ataxia, Charlevoix-Saguenay Type	Urinary urgency	OMIM:270550
Familial Thrombocytosis	Chronic myelogenous leukemia, Chest pain, Splenomegaly, Acute myeloid leukemia, Weight loss, Hype...	ORPHA:71493
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Urinary bladder sphincter dysfunction	ORPHA:64753
Neurotrophic Keratopathy	Allodynia	ORPHA:137596
Spinocerebellar Ataxia 1	Urinary bladder sphincter dysfunction	OMIM:164400
Familial Colorectal Cancer Type X	Uterine neoplasm, Fatigue, Weight loss, Abnormal circulating creatine concentration, Abdominal pa...	ORPHA:440437
Oromandibular Dystonia	Weight loss, Pain, Torticollis	ORPHA:93958
Glucagonoma	Increased circulating cortisol level, Increased circulating prolactin concentration, Hypercalcemi...	ORPHA:97280
Otopalatodigital Syndrome, Type Ii	Hydronephrosis, Hypospadias, Cryptorchidism, Elbow contracture	OMIM:304120
Pancreatic Triacylglycerol Lipase Deficiency	Exocrine pancreatic insufficiency, Colitis, Iron deficiency anemia, Fatigue, Keratoconjunctivitis...	ORPHA:309031
Viss Syndrome	Atopic dermatitis, Eczematoid dermatitis, Failure to thrive, Chronic gastritis, Hypereosinophilia...	OMIM:619472
Parkinson Disease, Late-Onset	Urinary urgency	OMIM:168600
Dermatomyositis	Abnormal eosinophil morphology, Heliotrope rash, Myalgia, Inflammatory myopathy, Skin rash, Eleva...	ORPHA:221
Norrie Disease	Failure to thrive, Uterine rupture, Cryptorchidism, Cachexia, Erectile dysfunction	ORPHA:649
Immunodeficiency 55	Absent natural killer cells, Eczematoid dermatitis, Lymphopenia, Neutropenia, Recurrent skin infe...	OMIM:617827
Tenorio Syndrome	Enuresis	OMIM:616260
Fragile X-Associated Tremor/Ataxia Syndrome	Pollakisuria, Urinary bladder sphincter dysfunction	ORPHA:93256
Lynch Syndrome	Endometrial carcinoma, Fatigue, Weight loss, Renal neoplasm, Abdominal pain, Flexion contracture,...	ORPHA:144
Mucolipidosis Type Ii	Hepatosplenomegaly, Diastasis recti, Otitis media, Hip contracture, Knee flexion contracture, Spl...	ORPHA:576
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hydronephrosis, Renal dysplasia, Abnormal circulating thyroid hormone concentration	ORPHA:480880
Familial Pancreatic Carcinoma	Peritoneal abscess, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Chronic fatigue, Ovari...	ORPHA:1333
Parkinson Disease 1, Autosomal Dominant	Urinary urgency	OMIM:168601
Medullary Thyroid Carcinoma	Weight loss, Hyperhidrosis, Primary hyperparathyroidism	ORPHA:1332
Reynolds Syndrome	Asthenia, Lymphopenia, Hyperbilirubinemia, Splenomegaly, Arthralgia, Erythema nodosum, Calcinosis	OMIM:613471
Gallbladder Neuroendocrine Tumor	Chronic fatigue, Weight loss, Episodic abdominal pain, Cholecystitis	ORPHA:100086
Vaginal Atresia	Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Transverse vaginal septum, Vagina...	ORPHA:65681
Glossopharyngeal Neuralgia	Tongue pain, Ear pain, Weight loss, Episodic pain, Mandibular pain	ORPHA:221098
Autoimmune Pulmonary Alveolar Proteinosis	Chest pain, Fatigue, Abnormal circulating protein concentration, Weight loss	ORPHA:747
Friedreich Ataxia	Urinary bladder sphincter dysfunction	ORPHA:95
Citrullinemia Type Ii	Enuresis	ORPHA:247585
Oculopharyngodistal Myopathy 1	Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Foot dorsifle...	OMIM:164310
Tropical Pancreatitis	Epigastric pain, Weight loss, Chronic calcifying pancreatitis	ORPHA:103918
Benign Schwannoma	Allodynia	ORPHA:252164
Perry Syndrome	Weight loss	OMIM:168605
Vipoma	Increased circulating cortisol level, Increased circulating prolactin concentration, Hypokalemia,...	ORPHA:97282
Primary Hepatic Neuroendocrine Carcinoma	Night sweats, Episodic abdominal pain, Weight loss, Chronic fatigue	ORPHA:100085
Short Syndrome	Weight loss	ORPHA:3163
Adult-Onset Autosomal Dominant Leukodystrophy	Urinary urgency, Urinary retention, Recurrent urinary tract infections	ORPHA:99027
Superficial Siderosis	Functional abnormality of the bladder	ORPHA:247245
Somatostatinoma	Increased circulating cortisol level, Increased circulating prolactin concentration, Episodic abd...	ORPHA:97283
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Activating thyroid-stimulating hormone receptor defect, Weight loss, Hyperthyroidism, Thyrotoxico...	ORPHA:424
Neuroendocrine Tumor Of The Colon	Abdominal pain, Weight loss	ORPHA:100080
Neuroendocrine Tumor Of The Rectum	Abdominal pain, Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Abdominal pain, Weight loss	ORPHA:100082
Gerstmann-Straussler Disease	Weight loss, Lower limb muscle weakness	OMIM:137440
Neuroendocrine Tumor Of Stomach	Episodic abdominal pain, Iron deficiency anemia, Weight loss	ORPHA:100075
Klatskin Tumor	Abdominal pain, Fatigue, Weight loss	ORPHA:99978
Choreoacanthocytosis	Peroneal muscle atrophy, Distal amyotrophy, Muscle fiber atrophy, Acanthocytosis, Splenomegaly, M...	ORPHA:2388
Ppoma	Increased circulating cortisol level, Increased circulating prolactin concentration, Episodic abd...	ORPHA:97278
Grfoma	Increased circulating cortisol level, Increased circulating prolactin concentration, Episodic abd...	ORPHA:97261
Autosomal Dominant Progressive External Ophthalmoplegia	Nocturia	ORPHA:254892
Familial Gestational Hyperthyroidism	Activating thyroid-stimulating hormone receptor defect, Weight loss, Hyperthyroidism, Thyrotoxico...	ORPHA:99819
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Enuresis	ORPHA:369950
Carney-Stratakis Syndrome	Abdominal pain, Weight loss	ORPHA:97286
Isolated Posterior Meningocele	Enuresis	ORPHA:268810
Hutchinson-Gilford Progeria Syndrome	Delayed menarche, Severe failure to thrive, Weight loss, Osteoarthritis, Female hypogonadism, Hyp...	ORPHA:740
Parkinson Disease 14, Autosomal Recessive	Nocturia	OMIM:612953
Pancreatoblastoma	Abdominal pain, Weight loss	ORPHA:677
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Micropenis, Unilateral renal agenesis, Pelvic kidney, Urinary urgency	OMIM:619503
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Enuresis	ORPHA:293987

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 Htr3a

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 Htr3a.

No publications found that use IMPC mice or data for Htr3a.

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

MGI Allele	Allele Type	Produced
Htr3a^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Htr3a^em1.1(IMPC)J	Exon Deletion	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Htr3a MGI:96282

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

X-ray

Auditory Brain Stem Response

Human diseases caused by Htr3a mutations

Histopathology

IMPC related publications

External links

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Access Data Release 21.1 Data