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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 Lateral 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	Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Urinary urgency, Hydronephro...	OMIM:615112
Posterior Urethral Valve	Urinary incontinence, Unilateral renal dysplasia, Recurrent urinary tract infections, Enuresis no...	ORPHA:93110
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Hematuria, Elevated circulating creatinine concentration, Increased blood urea ...	OMIM:614817
Renal Dysplasia	Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Ure...	ORPHA:93108
Urofacial Syndrome 1	Hydroureter, Urethral obstruction, Recurrent urinary tract infections, Enuresis, Urethral valve, ...	OMIM:236730
Xanthinuria, Type I	Xanthinuria, Hypouricemia, Hydronephrosis, Xanthine nephrolithiasis, Hyperxanthinemia, Pyelonephr...	OMIM:278300
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Hypospadias, Recurrent urinary tract infections, Neurogenic bladder, Vesicoureteral reflux, Failu...	OMIM:191800
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Exercise intolerance, Renal tubular epithelial necrosis, Myoglobinuria, Exercise-induced myalgia,...	ORPHA:228302
Ochoa Syndrome	Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral re...	ORPHA:2704
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration, Microscopic hematuria, Nephritis, Proteinuria, Sta...	OMIM:161900
Igg4-Related Kidney Disease	Enlarged kidney, Sclerosing cholangitis, Pericarditis, Elevated circulating creatinine concentrat...	ORPHA:449395
Adrenomyodystrophy	Failure to thrive, Primary adrenal insufficiency, Megacystis, Abnormality of the urinary system, ...	ORPHA:977
Iga Nephropathy, Susceptibility To, 2	Hematuria, Nephritis, Arthralgia, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic ...	OMIM:613944
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Decreased glomerular filtration rate, Tubulointerstitial...	ORPHA:85450
Renal Hypoplasia	Abnormal renal tubule morphology, Unilateral renal agenesis, Pelvic kidney, Recurrent urinary tra...	ORPHA:93101
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Torticollis, Oligozoospermia, Nephritis, Renal dysplasia, Cryptorchidis...	OMIM:314300
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f...	ORPHA:730
Complement Component C1R/C1S Deficiency	Arthritis, Discoid lupus rash, Nephritis, Arthralgia	OMIM:216950
Medullary cystic kidney disease 2	Hyperuricemia, Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cyst...	OMIM:603860
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Nephronophthisis 18	Nephronophthisis, Thickened glomerular basement membrane, Renal tubular atrophy, Stage 5 chronic ...	OMIM:615862
Spastic Paraplegia 13, Autosomal Dominant	Urinary incontinence, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Urinary ...	OMIM:605280
Spastic Paraplegia 12, Autosomal Dominant	Urinary incontinence, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Urinary ...	OMIM:604805
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Recurrent urinary tract infections, Megacystis, Fetal pyelectasis, Nephrolithiasis	OMIM:619365
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Spastic Paraplegia 19, Autosomal Dominant	Urinary incontinence, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Urinary ...	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	Polyuria, Megacystis, Failure to thrive, Hypernatremia	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polyuria, Megacystis, Failure to thrive, Hypernatremia	OMIM:304800
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Urethral obstruction, Renal hypoplasia, Renal dysplasia, Autoimmune thrombocytopenia, Urinary bla...	OMIM:601389
Nephrotic Syndrome, Type 7	Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr...	OMIM:615008
Complement Factor I Deficiency	Recurrent otitis media, Recurrent urinary tract infections, Recurrent sinusitis, Septic arthritis...	OMIM:610984
Hyperprolinemia Type 1	Prolinuria, Hyperprolinemia, Nephropathy, Proteinuria	ORPHA:419
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency	Urinary bladder sphincter dysfunction	ORPHA:284282
Microsporidiosis	Cachexia, Sinusitis, Myocarditis, Cholangitis, Thyroiditis, Abdominal pain, Abnormal endometrium ...	ORPHA:2552
Endove Syndrome, Limb-Brain Type	Recurrent urinary tract infections, Neurogenic bladder, Failure to thrive, Hydronephrosis, Osteom...	OMIM:619218
Spastic Paraplegia 36, Autosomal Dominant	Urinary incontinence, Lower limb muscle weakness, Urinary urgency	OMIM:613096
Autosomal Dominant Spastic Paraplegia Type 13	Urinary incontinence, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Urinary ...	ORPHA:100994
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomerulonephritis, Po...	OMIM:617006
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal salt wasting, Elevated circulating creatinine concentration, Anemia, Decreased glomerular f...	OMIM:174000
Spastic Paraplegia 8, Autosomal Dominant	Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction, Low back pain, Lowe...	OMIM:603563
Iga Nephropathy, Susceptibility To, 1	Hematuria, Nephritis, Arthralgia, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic ...	OMIM:161950
Spastic Paraplegia 37, Autosomal Dominant	Urinary incontinence, Urinary urgency	OMIM:611945
Intellectual Developmental Disorder, X-Linked 29	Urinary incontinence, Testicular dysgenesis	OMIM:300419
Atresia Of Urethra	Hydroureter, Recurrent urinary tract infections, Dilatation of the bladder, Vesicoureteral reflux...	ORPHA:105
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hyperglycinemia, Methylmalonic acidemia, Pancreatitis, Hyperammonemia, Failure to thrive, Leukope...	OMIM:251000
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Muscle fiber splitting, Muscular dystrophy, Anemia, Punctate keratitis, Increased variability in ...	OMIM:226670
Senior-Loken Syndrome 9	Nephronophthisis, Obesity, Hypogonadism, Stage 5 chronic kidney disease, Tubulointerstitial nephr...	OMIM:616629
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria	OMIM:614199
Spastic Paraplegia 3, Autosomal Dominant	Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction, Distal lower limb a...	OMIM:182600
Spastic Paraplegia 6, Autosomal Dominant	Urinary incontinence, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Urinary ...	OMIM:600363
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Glomerular C3 deposition, Arthritis, Skin rash, Abnormal glomerular mesangiu...	ORPHA:567544
Spastic Paraplegia 27, Autosomal Recessive	Spastic/hyperactive bladder	OMIM:609041
Nephronophthisis 2	Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Elevated c...	OMIM:602088
Granulomatosis With Polyangiitis	Chronic otitis media, Inflammatory abnormality of the eye, Skin rash, Ureteral stenosis, Sinusiti...	ORPHA:900
Intellectual Developmental Disorder, X-Linked 112	Ectopic kidney, Hypospadias, Horseshoe kidney, Enuresis nocturna, Vesicoureteral reflux, Pain, En...	OMIM:301111
Glomerulopathy With Fibronectin Deposits 2	Glomerular fibronectin deposits, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Glomerul...	OMIM:601894
Siddiqi Syndrome	Lower limb amyotrophy, Urinary incontinence, Flexion contracture	OMIM:618635
Spastic Paraplegia 18A, Autosomal Dominant	Urinary incontinence, Upper limb muscle weakness, Lower limb muscle weakness	OMIM:620512
Adult Polyglucosan Body Disease	Neurogenic bladder, Urinary incontinence, Urinary bladder sphincter dysfunction	ORPHA:206583
Nephrotic Syndrome, Type 23	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Podocyte foot process effa...	OMIM:619201
Autosomal Dominant Spastic Paraplegia Type 73	Distal lower limb amyotrophy, Distal lower limb muscle weakness, Urinary incontinence, Urinary ur...	ORPHA:444099
Epidermolysis Bullosa, Junctional 5A, Intermediate	Urethral stenosis	OMIM:619816
Spastic Paraplegia, Ataxia, And Mental Retardation	Urinary incontinence, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Urinary ...	OMIM:607565
Hand-Foot-Genital Syndrome	Hypospadias, Longitudinal vaginal septum, Renal insufficiency, Vesicoureteral reflux, Bifid scrot...	OMIM:140000
X-Linked Spastic Paraplegia Type 16	Functional abnormality of the bladder	ORPHA:100997
Immunodeficiency, Common Variable, 6	Enlarged kidney, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immune complex dep...	OMIM:613496
Congenital Primary Megaureter	Congenital megaureter, Recurrent urinary tract infections, Abdominal pain, Vesicoureteral reflux,...	ORPHA:617
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Lymphocytosis, Thyroiditis, Skin rash, Hepatitis, Nephrotic syndrome, Eosinophilia, ...	ORPHA:139402
Foix-Alajouanine Syndrome	Distal lower limb muscle weakness, Urinary incontinence, Myelitis, Neurogenic bladder, Bowel inco...	ORPHA:79093
Autosomal Recessive Spastic Paraplegia Type 48	Urinary incontinence, Lower limb muscle weakness, Elevated circulating creatine kinase concentrat...	ORPHA:306511
Silver-Russell Syndrome 1	Decreased response to growth hormone stimulation test, Hypospadias, Testicular seminoma, Abnormal...	OMIM:180860
Spastic Paraplegia 10, Autosomal Dominant	Urinary incontinence, Upper limb muscle weakness, Urinary urgency, Urinary bladder sphincter dysf...	OMIM:604187
Peroxisome Biogenesis Disorder 10B	Neurogenic bladder, Nephrocalcinosis	OMIM:617370
Primary Membranoproliferative Glomerulonephritis	Acute kidney injury, Glomerular subendothelial electron-dense deposits, Nephrotic syndrome, Micro...	ORPHA:54370
Autosomal Dominant Spastic Paraplegia Type 36	Arthritis, Urinary incontinence, Urinary urgency	ORPHA:320365
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentration, Renal hypopl...	OMIM:614376
Glomerulopathy With Fibronectin Deposits 1	Glomerular fibronectin deposits, Glomerulopathy, Nephropathy, Nephrotic syndrome, Microscopic hem...	OMIM:137950
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Fetal megacystis, Renal cortical hyperechogenicity, Peritonitis, Megacystis, Pyelonephritis	OMIM:619351
Carnitine Palmitoyltransferase Ii Deficiency	Exercise intolerance, Renal tubular epithelial necrosis, Myoglobinuria, Polycystic kidney dysplas...	ORPHA:157
Lymphatic Filariasis	Abnormality of the kidney, Hematuria, Urethral obstruction, Knee osteoarthritis, Vaginal hydrocel...	ORPHA:2035
Lead Poisoning	Decreased HDL cholesterol concentration, Skin rash, Decreased female libido, Imbalanced hemoglobi...	ORPHA:330015
Wolfram Syndrome 1	Hydroureter, Neurogenic bladder, Megaloblastic anemia, Hypothyroidism, Sideroblastic anemia, Hydr...	OMIM:222300
Polyglucosan Body Neuropathy, Adult Form	Neurogenic bladder, Urinary incontinence	OMIM:263570
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Renal salt wasting, Polyuria, Anemia, Hyperuricemia, Pancytopenia, Increased blood urea nitrogen,...	OMIM:613845
Hemangioblastoma	Trigeminal neuralgia, Neurogenic bladder, Upper limb muscle weakness, Lower limb muscle weakness	ORPHA:252054
Nephrotic Syndrome, Type 15	Minimal change glomerulonephritis, Proteinuria, Hypoalbuminemia, Steroid-resistant nephrotic synd...	OMIM:617609
Spastic Paraplegia 4, Autosomal Dominant	Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction, Low back pain, Lowe...	OMIM:182601
Spastic Paraplegia 16, X-Linked	Urinary incontinence, Facial hypotonia, Lower limb amyotrophy, Urinary urgency, Urinary bladder s...	OMIM:300266
3-Methylglutaconic Aciduria Type 9	3-Methylglutaconic aciduria, Slender build, Urinary incontinence, Failure to thrive	ORPHA:505216
Nephrotic Syndrome, Type 16	Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria	OMIM:617783
Renal Hypodysplasia/Aplasia 3	Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Abnormality of the uterus, Renal dysplasia...	OMIM:617805
Thyrocerebrorenal Syndrome	Thrombocytopenia, Nephritis, Renal insufficiency, Abnormality of the musculature of the limbs	ORPHA:3327
Mitochondrial Complex I Deficiency, Nuclear Type 27	Neurogenic bladder	OMIM:618248
2p15-16.1 microdeletion syndrome	Camptodactyly of finger, Hydronephrosis	DECIPHER:70
Igg4-Related Retroperitoneal Fibrosis	Renal tubular epithelial necrosis, Deep dermal perivascular inflammatory infiltrate, Impotence, E...	ORPHA:49041
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria	ORPHA:2820
Focal Segmental Glomerulosclerosis 10	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chron...	OMIM:256020
Webb-Dattani Syndrome	Decreased response to growth hormone stimulation test, Hyposthenuria, Neurogenic bladder, Vesicou...	OMIM:615926
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Decreased response to growth hormone st...	OMIM:307200
Birk-Landau-Perez Syndrome	Hyperkalemia, Stage 3 chronic kidney disease, Limb hypertonia, Facial hypotonia, Renal hypoplasia...	OMIM:617595
Majeed Syndrome	Glomerulopathy, Congenital hypoplastic anemia, Hypochromic microcytic anemia, Bone pain, Cachexia...	ORPHA:77297
Prune Belly Syndrome	Decreased fertility, Aplasia of the abdominal wall musculature, Hydroureter, Renal insufficiency,...	ORPHA:2970
Diencephalic Syndrome	Cachexia, Hyperhidrosis, Decreased body weight, Long penis	ORPHA:1672
Eosinophilic Granulomatosis With Polyangiitis	Myocarditis, Glomerulopathy, Hematuria, Myositis, Arthritis, Skin rash, Abdominal pain, Fatigue, ...	ORPHA:183
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Cachexia, Splenomegaly, Abnormal blood ion concentration, Psoriasiform dermatitis, Neutropenia, H...	ORPHA:37042
Combined Oxidative Phosphorylation Deficiency 9	Failure to thrive, Hyperalaninemia, Tubulointerstitial nephritis	OMIM:614582
Lower Urinary Tract Obstruction, Congenital	Urinary incontinence, Pollakisuria, Vesicoureteral reflux, Congenital posterior urethral valve, U...	OMIM:618612
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch...	OMIM:616002
Autosomal Dominant Spastic Paraplegia Type 6	Urinary incontinence, Skeletal muscle atrophy	ORPHA:100988
Atypical Hemolytic Uremic Syndrome	Acute kidney injury, Hematuria, Thrombocytopenia, Proteinuria, Microangiopathic hemolytic anemia	ORPHA:2134
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Proximal tubulopathy, Failure to thrive, Weight loss, Aminoaciduria	OMIM:612075
Hereditary Renal Hypouricemia	Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration...	ORPHA:94088
Focal Segmental Glomerulosclerosis 6	Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein...	OMIM:614131
Fowler Urethral Sphincter Dysfunction Syndrome	Urinary incontinence, Dysuria, Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Acne, Ameno...	ORPHA:2795
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Decreased glomerular filtration rate, Hyperuricemia, Nephropathy, Nephritis, Renal tubular atroph...	OMIM:162000
Porphyria Variegata	Elevated urinary delta-aminolevulinic acid, Proximal muscle weakness in upper limbs, Anemia, Incr...	ORPHA:79473
Familial Visceral Myopathy	Hydroureter, Vesicoureteral reflux, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal ...	ORPHA:2604
Ring Chromosome 8 Syndrome	Hydronephrosis, Abnormality of the ureter	ORPHA:1450
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic s...	OMIM:612925
Cerebroretinal Microangiopathy With Calcifications And Cysts 3	Urinary incontinence	OMIM:620368
Spastic Paraplegia 76, Autosomal Recessive	Urinary incontinence, Skeletal muscle atrophy, Lower limb muscle weakness	OMIM:616907
Nail-Patella-Like Renal Disease	Microscopic hematuria, Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2613
Preeclampsia/Eclampsia 1	Thrombocytopenia, Proteinuria	OMIM:189800
Pauci-Immune Glomerulonephritis	Acute kidney injury, Pancreatitis, Decreased glomerular filtration rate, Glomerular sclerosis, Ar...	ORPHA:93126
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Distal lower limb muscle weakness, Distal lower limb amyotrophy, Neurogenic bladder, Thenar muscl...	OMIM:500013
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Anemia, Hyperuricemia, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hyp...	OMIM:613092
Autosomal Recessive Cutis Laxa Type 1	Multiple bladder diverticula, Recurrent urinary tract infections, Vesicoureteral reflux, Urethral...	ORPHA:90349
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n...	OMIM:612926
Lipodystrophy, Partial, Acquired, Susceptibility To	Abnormal circulating lipid concentration, Hematuria, Nephrotic syndrome, Proteinuria, Membranopro...	OMIM:608709
Multiple Sclerosis, Susceptibility To	Urinary incontinence, Urinary hesitancy	OMIM:126200
Listeriosis	Pericarditis, Pustule, Chills, Cholecystitis, Granulomatosis, Myocarditis, Acute kidney injury, A...	ORPHA:533
Congenital Disorder Of Glycosylation, Type Iii	Neurogenic bladder	OMIM:613612
Glutathionuria	Glutathionuria, Urinary incontinence, Eczematoid dermatitis	OMIM:231950
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Hydronephrosis, Abnormality of the urinary system	ORPHA:2669
Autosomal Recessive Frontotemporal Pachygyria	Urinary incontinence	ORPHA:329329
Adult-Onset Distal Myopathy Due To Vcp Mutation	Urinary incontinence, Abnormality of the musculature of the lower limbs, Fatty replacement of ske...	ORPHA:329478
Focal Segmental Glomerulosclerosis 8	Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis	OMIM:616032
Lysinuric Protein Intolerance	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Argininuria, Decreased glomerular ...	ORPHA:470
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Proteinuria, Tubulointerstitial nephritis	OMIM:616901
Nephrotic Syndrome, Type 18	Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta...	OMIM:618177
Nephrotic Syndrome, Type 19	Stage 3 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta...	OMIM:618178
Nephrotic Syndrome, Type 20	Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta...	OMIM:301028
X-Linked Adrenoleukodystrophy	Neurogenic bladder, Impotence, Leg muscle stiffness, Urinary bladder sphincter dysfunction, Abnor...	ORPHA:43
Duplication Of Urethra	Clitoral hypertrophy, Urinary incontinence, Bifid scrotum, Bladder duplication, Septate vagina, R...	ORPHA:237
Nephrotic Syndrome, Type 17	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Steroid-resistant nephrot...	OMIM:618176
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n...	OMIM:612924
Spastic Paraplegia 11, Autosomal Recessive	Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction, Obesity, Thenar mus...	OMIM:604360
Renal Caliceal Diverticuli-Deafness Syndrome	Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, A...	ORPHA:2838
Spastic Paraplegia 5A, Autosomal Recessive	Urinary incontinence, Lower limb amyotrophy, Abnormal circulating cholesterol concentration, Uppe...	OMIM:270800
Nephrotic Syndrome, Type 2	Hyperlipidemia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbumine...	OMIM:600995
Drug-Induced Lupus Erythematosus	Hematuria, Anemia, Elevated circulating C-reactive protein concentration, Malar rash, Elevated ci...	ORPHA:231111
Spinocerebellar Ataxia 48	Cachexia, Urinary incontinence	OMIM:618093
Charcot-Marie-Tooth Disease, Type 4B3	Distal lower limb muscle weakness, Urinary incontinence, Upper limb muscle weakness, Skeletal mus...	OMIM:615284
Spastic Ataxia 3, Autosomal Recessive	Neurogenic bladder, Urinary urgency	OMIM:611390
3-Methylglutaconic Aciduria, Type Ix	3-Methylglutaconic aciduria, 3-Methylglutaric aciduria, Urinary incontinence, Failure to thrive	OMIM:617698
Iga Nephropathy, Susceptibility To, 3	Hematuria, Proteinuria, Mesangial hypercellularity, IgA deposition in the glomerulus, Stage 5 chr...	OMIM:616818
Hematuria, Benign Familial, 2	Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology	OMIM:620320
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stag...	OMIM:603965
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Megacystis, Hydronephrosis, Hydroureter	OMIM:619431
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Urinary incontinence, Episodic hyperhidrosis, Osteomyelitis	OMIM:613115
Spastic Paraplegia 85, Autosomal Recessive	Generalized amyotrophy, Urinary incontinence, Torticollis, Lower limb muscle weakness	OMIM:619686
Visceral Myopathy 1	Pancreatitis, Abdominal pain, Vesicoureteral reflux, Hydronephrosis, Megacystis, Urinary retention	OMIM:155310
Autosomal Dominant Spastic Paraplegia Type 8	Peroneal muscle atrophy, Urinary incontinence, Lower limb muscle weakness, Urinary urgency	ORPHA:100989
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Increased variability in muscle fiber diameter, Neurogenic bladder, Hyperhidrosis, Type 2 muscle ...	OMIM:619173
Myopathy, Myofibrillar, 7	Urinary incontinence, Shoulder flexion contracture, Enuresis nocturna, Elbow flexion contracture,...	OMIM:617114
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Decreased glomerular filtration rate, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Fa...	ORPHA:488627
Visceral Myopathy 2	Megacystis, Necrotizing enterocolitis, Esophagitis	OMIM:619350
Autosomal Dominant Spastic Paraplegia Type 12	Urinary incontinence, Lower limb amyotrophy, Bowel incontinence, Urinary urgency, Male sexual dys...	ORPHA:100993
Autosomal Recessive Spastic Paraplegia Type 27	Spastic/hyperactive bladder	ORPHA:101007
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Claw hand deformity, Distal upper limb amyotrophy, Elevated circulating creatine kinase concentra...	OMIM:614455
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Dicarboxylic aciduria, Myoglobinuria, Polycystic kidney dyspla...	ORPHA:228308
Nephrotic Syndrome, Type 9	Glomerular sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Steroid-r...	OMIM:615573
Macdermot-Winter Syndrome	Camptodactyly of finger, Hypoplastic male external genitalia, Hydronephrosis	OMIM:247990
Nephrotic Syndrome, Type 6	Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi...	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	Failure to thrive, Urinary incontinence, Limb joint contracture, Skeletal muscle atrophy	ORPHA:309162
3-Methylglutaconic Aciduria, Type I	3-Methylglutaconic aciduria, Urinary incontinence, Failure to thrive	OMIM:250950
Autosomal Recessive Spastic Paraplegia Type 77	Detrusor sphincter dyssynergia, Urinary incontinence, Lower limb amyotrophy, Neurogenic bladder, ...	ORPHA:466722
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic...	OMIM:308990
Myh9-Related Disease	Neutrophil inclusion bodies, Giant platelets, Renal insufficiency, Increased mean platelet volume...	ORPHA:182050
Autosomal Recessive Spastic Paraplegia Type 46	Abnormal sperm head morphology, Urinary incontinence, Abnormal tendon morphology, Infertility, De...	ORPHA:320391
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Nephrotic syndrome, Hematuria, Proteinuria, Membranoproliferative glomerulonephritis	OMIM:613913
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Neurogenic bladder	OMIM:615911
Agammaglobulinemia, X-Linked	Recurrent otitis media, Pyoderma, Prostatitis, Anemia, Recurrent urinary tract infections, B lymp...	OMIM:300755
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Hypoalbuminemia, Proteinuria, Decreased level of coenzyme Q10 in skeletal muscle	OMIM:614652
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Abnormality of the kidney, Tubulointerstitial nephritis, Camptodactyly, Enuresis	ORPHA:459061
Recessive Dystrophic Epidermolysis Bullosa Inversa	Gastrointestinal inflammation, Vaginal stricture, Anemia, Urethral stricture, Abnormality of the ...	ORPHA:79409
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Bowel incontinence, Hydronep...	ORPHA:84085
Acquired Partial Lipodystrophy	Glomerulopathy, Lymphocytosis, Microscopic hematuria, Arthralgia, Proteinuria, Myopathy	ORPHA:79087
Focal Segmental Glomerulosclerosis 1	Anemia, Hyperlipidemia, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Proteinuria, ...	OMIM:603278
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Renal hyp...	OMIM:611555
Hereditary Xanthinuria	Acute kidney injury, Hematuria, Xanthinuria, Hypouricemia, Recurrent urinary tract infections, De...	ORPHA:3467
Lecithin:Cholesterol Acyltransferase Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Normochromic anemia, Proteinuria, ...	OMIM:245900
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Megacystis, Cryptorchidism, Hydroureter, Multicystic kidney dysplasia	ORPHA:2241
Amyloidosis, Familial Visceral	Hematuria, Skin rash, Nephrotic syndrome, Proteinuria, Renal amyloidosis, Splenomegaly, Nephropathy	OMIM:105200
Intellectual Developmental Disorder, Autosomal Recessive 70	Urinary incontinence	OMIM:618402
X-Linked Intellectual Disability, Schimke Type	Ankle flexion contracture, Elbow flexion contracture, Vesicoureteral reflux, Hip contracture, Hyd...	ORPHA:85285
C3 Glomerulopathy	Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Nephrotic syndrome...	ORPHA:329918
Autosomal Dominant Centronuclear Myopathy	Large for gestational age, Proximal muscle weakness in upper limbs, Urinary incontinence, Calf mu...	ORPHA:169189
Pelizaeus-Merzbacher Disease In Female Carriers	Neurogenic bladder, Abnormality of the lower urinary tract	ORPHA:280229
Baralle-Macken Syndrome	Obesity, Urinary incontinence	OMIM:619255
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Neurogenic bladder	OMIM:619780
Autosomal Dominant Spastic Paraplegia Type 4	Urinary bladder sphincter dysfunction, Urinary urgency	ORPHA:100985
Autoinflammatory-Pancytopenia Syndrome	Intestinal inflammation, Hemophagocytosis, Pancytopenia, Chilblains, Granuloma, Failure to thrive...	OMIM:619858
Amyotrophic Lateral Sclerosis 5, Juvenile	Distal amyotrophy, Urinary incontinence	OMIM:602099
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Proteinuria, Focal segmental glomerulosclerosis, Renal insufficiency	OMIM:607832
Autosomal Recessive Spastic Paraplegia Type 78	Neurogenic bladder, Facial myokymia	ORPHA:513436
Scalp-Ear-Nipple Syndrome	Abnormality of the kidney, Ureteral duplication, Recurrent urinary tract infections, Hypohidrosis...	ORPHA:2036
Focal Segmental Glomerulosclerosis 5	Microscopic hematuria, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscle...	OMIM:613237
Image Syndrome	Hydronephrosis, Hypospadias, Hypogonadism, Cryptorchidism	ORPHA:85173
Glycogen Storage Disease X	Exercise intolerance, Myoglobinuria, Exercise-induced myalgia, Elevated circulating creatine kina...	OMIM:261670
Hemorrhagic Fever-Renal Syndrome	Decreased glomerular filtration rate, Decreased urine output, Hyperhidrosis, Chills, Oliguria, El...	ORPHA:340
Hardikar Syndrome	Hydroureter, Cholangitis, Recurrent urinary tract infections, Hyperbilirubinemia, Vesicoureteral ...	OMIM:301068
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity	Distal amyotrophy, Urinary incontinence	ORPHA:352641
Congenital Anomalies Of Kidney And Urinary Tract 3	Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl...	OMIM:618270
Spastic Paraplegia 46, Autosomal Recessive	Limb muscle weakness, Infertility, Urinary incontinence, Lower limb muscle weakness	OMIM:614409
22Q11.2 Duplication Syndrome	Hydronephrosis, Displacement of the urethral meatus, Urethral stenosis	ORPHA:1727
Lymphatic Malformation 1	Hydrocele testis, Urethral stricture	OMIM:153100
Maternal Uniparental Disomy Of Chromosome 4	Calf muscle pseudohypertrophy, Neurogenic bladder, Decreased body weight, Elevated circulating cr...	ORPHA:96180
Paternal Uniparental Disomy Of Chromosome 1	Enlarged kidney, Episodic hemolytic anemia, Increased blood urea nitrogen, Anhidrosis, Obesity, H...	ORPHA:251004
Spastic Paraplegia 83, Autosomal Recessive	Urinary urgency	OMIM:619027
Sjogren Syndrome	Rheumatoid arthritis, Xerostomia, Keratoconjunctivitis sicca, Tubulointerstitial nephritis	OMIM:270150
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Hematuria, Abdominal pain, Reticulocytosis, Decreased serum creatinine, Thro...	ORPHA:54057
Amyotrophic Dystonic Paraplegia	Urinary incontinence, Skeletal muscle atrophy, Bowel incontinence	OMIM:105300
Spastic Paraplegia 7, Autosomal Recessive	Urinary incontinence, Upper limb muscle weakness, Urinary urgency, Urinary bladder sphincter dysf...	OMIM:607259
Brain-Lung-Thyroid Syndrome	Hypoparathyroidism, Hypospadias, Vesicoureteral reflux, Congenital hypothyroidism, Failure to thr...	ORPHA:209905
Fibronectin Glomerulopathy	Glomerulopathy, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematur...	ORPHA:84090
Alkaptonuria	Prostatitis, Arthritis, Nephrolithiasis, Thickened Achilles tendon, Hypothyroidism, Tendon ruptur...	ORPHA:56
Systemic Lupus Erythematosus	Malar rash, Arthritis, Pericarditis, Nephritis, Thrombocytopenia, Leukopenia, Hemolytic anemia, L...	OMIM:152700
Basal Ganglia Calcification, Idiopathic, 1	Urinary incontinence, Abnormal circulating calcium concentration	OMIM:213600
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal tubular epithelial necrosis, Decreased glomerular filtration rate, Normochromic anemia, Ski...	ORPHA:91500
Prune Belly Syndrome	Aplasia of the abdominal wall musculature, Hydroureter, Hydronephrosis, Congenital posterior uret...	OMIM:100100
Congenital Anomalies Of Kidney And Urinary Tract 2	Hydroureter, Congenital megaureter, Flank pain, Renal hypoplasia, Back pain, Ureteropelvic juncti...	OMIM:143400
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Renal duplication, Proteinuria, Conjunctiviti...	ORPHA:33001
Cog5-Cdg	Urinary incontinence, Neurogenic bladder, Camptodactyly of finger, Hepatosplenomegaly, Cryptorchi...	ORPHA:263487
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Urinary incontinence, Distal amyotrophy, Intrinsic hand muscle atrophy, Foot dorsiflexor weakness...	OMIM:616688
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Neurogenic bladder, Multiple joint contractures	ORPHA:466934
Unilateral Focal Polymicrogyria	Urinary incontinence	ORPHA:268947
Glycogen Storage Disease Xi	Exercise intolerance, Myoglobinuria, Increased serum pyruvate, Elevated circulating creatine kina...	OMIM:612933
Trisomy 17P	Hypoplasia of penis, Polycystic kidney dysplasia, Urethral valve, Hydronephrosis, Skeletal muscle...	ORPHA:261290
Thyrocerebroretinal Syndrome	Nephritis, Thrombocytopenia, Skeletal muscle atrophy	OMIM:274240
Wolfram Syndrome 2	Oligomenorrhea, Neurogenic bladder, Primary amenorrhea	OMIM:604928
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Nephritis, Glomerular bas...	OMIM:609057
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Urinary incontinence	OMIM:620094
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Urinary incontinence, Distal amyotrophy, Spinal muscular atrophy, Limb muscle weakness, Failure t...	OMIM:604320
Alport Syndrome 3A, Autosomal Dominant	Hematuria, Azotemia, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement mem...	OMIM:104200
Alport Syndrome 3B, Autosomal Recessive	Thin glomerular basement membrane, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Albumi...	OMIM:620536
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
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros...	OMIM:310468
Galloway-Mowat Syndrome 8	Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein...	OMIM:618349
Spastic Paraplegia 29, Autosomal Dominant	Urinary incontinence, Urinary hesitancy, Urinary urgency, Nocturia, Neonatal hyperbilirubinemia	OMIM:609727
Hydrocephalus, Normal-Pressure, 1	Urinary incontinence, Bowel incontinence	OMIM:236690
Neuronal Intranuclear Inclusion Disease	Urinary incontinence	OMIM:603472
Adenine Phosphoribosyltransferase Deficiency	Acute kidney injury, Recurrent urinary tract infections, Dysuria, Uric acid nephrolithiasis, Neph...	ORPHA:976
Adrenoleukodystrophy	Urinary incontinence, Elevated circulating long chain fatty acid concentration, Impotence, Urinar...	OMIM:300100
Spastic Paraplegia 72A, Autosomal Dominant	Urinary bladder sphincter dysfunction	OMIM:615625
Cholestasis, Progressive Familial Intrahepatic, 12	Increased serum bile acid concentration, Hyperbilirubinemia, Splenomegaly, Proteinuria, Conjugate...	OMIM:620010
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Hematuria, Anemia, Arthritis, Arthralgia, Proteinuria, Myalgia, Chest pain, Renal...	ORPHA:375
Junctional Epidermolysis Bullosa With Pyloric Atresia	Hematuria, Aplasia of the bladder, Ureterocele, Hydronephrosis, Renal duplication, Urethral stric...	ORPHA:79403
Spinocerebellar Ataxia 42	Urinary incontinence, Urinary urgency	OMIM:616795
Preeclampsia	Abnormality of the kidney, Acute kidney injury, Abdominal pain, Epigastric pain, Thrombocytopenia...	ORPHA:275555
Reni Syndrome	Hypertriglyceridemia, Focal segmental glomerulosclerosis, Podocyte foot process effacement, Nephr...	OMIM:617575
Leukodystrophy, Hypomyelinating, 12	Neurogenic bladder, Flexion contracture	OMIM:616683
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Transverse vaginal septum, Decreased response to growth hormone stimulation test, Hydroureter, Du...	OMIM:604292
Isolated Epispadias	Epispadias, Bifid clitoris, Urinary incontinence, Vesicoureteral reflux, Anteriorly displaced ure...	ORPHA:93928
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Cachexia, Exercise-induced myalgia, Elevated circulating creatine kinase c...	ORPHA:42
Patent Urachus	Urachal cyst, Pelvic pain, Recurrent urinary tract infections, Abdominal pain, Congenital posteri...	ORPHA:431341
Familial Mediterranean Fever, Autosomal Dominant	Abdominal pain, Erysipelas, Arthralgia, Proteinuria, Peritonitis, Renal amyloidosis, Chest pain, ...	OMIM:134610
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Urinary incontinence	OMIM:249900
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia, Pneumonia, Glomerulonephritis	OMIM:247800
Spastic Paraplegia 15, Autosomal Recessive	Urinary incontinence, Distal amyotrophy, Bowel incontinence, Urinary urgency, Urinary bladder sph...	OMIM:270700
Melioidosis	Lung abscess, Prostatitis, Liver abscess, Acute infectious pneumonia, Foot osteomyelitis, Parotit...	ORPHA:31202
Thrombotic Thrombocytopenic Purpura, Hereditary	Hemolytic-uremic syndrome, Reticulocytosis, Microscopic hematuria, Increased blood urea nitrogen,...	OMIM:274150
Megabladder, Congenital	Stage 5 chronic kidney disease, Fetal megacystis, Multiple glomerular cysts, Hyperechogenic kidneys	OMIM:618719
Syringomyelia, Noncommunicating Isolated	Neck pain, Urinary incontinence, Limb muscle weakness	OMIM:186700
Hereditary Motor And Sensory Neuropathy, Type Iic	Proximal upper limb amyotrophy, Proximal muscle weakness in upper limbs, Urinary incontinence, Di...	OMIM:606071
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia, Elevated circulating creatine kinase concentration, Skeletal muscle atrophy, Methylmalo...	ORPHA:1933
Multicentric Reticulohistiocytosis	Arthritis, Cachexia, Histiocytosis	ORPHA:139436
Alport Syndrome 2, Autosomal Recessive	Hematuria, Nephrotic syndrome, Thickened glomerular basement membrane, Nephritis, Proteinuria, St...	OMIM:203780
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Urinary incontinence, Hypergonadotropic hypogonadism	OMIM:617145
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Neurogenic bladder	OMIM:617669
46,Xy Sex Reversal 4	Gonadal dysgenesis, Recurrent otitis media, Hypoplastic labia majora, Hypergonadotropic hypogonad...	OMIM:154230
Autosomal Spastic Paraplegia Type 72	Urinary bladder sphincter dysfunction	ORPHA:401849
Gitelman Syndrome	Urinary incontinence, Renal potassium wasting, Hyperhidrosis, Nocturia, Renal tubular acidosis, H...	ORPHA:358
Pure Autonomic Failure	Urinary incontinence, Dysuria, Impotence, Anhidrosis, Constitutional symptom	ORPHA:441
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Acute kidney injury, Abnormal circulating lipid concentration, Hypercholest...	ORPHA:567548
Orofaciodigital Syndrome Xviii	Urinary incontinence	OMIM:617927
Bardet-Biedl Syndrome 19	External genital hypoplasia, Renal hypoplasia, Obesity, Hydronephrosis, Hypogonadism, Renal insuf...	OMIM:615996
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Anemia, Hypercalcemia, Proteinuria, Renal insufficiency, Hyperparathyroidism	ORPHA:2668
Galactosemia I	Increased level of galactitol in red blood cells, Premature ovarian insufficiency, Galactosuria, ...	OMIM:230400
Congenital Disorder Of Glycosylation, Type Iie	Neurogenic bladder, Elevated circulating creatine kinase concentration, Failure to thrive, Hydron...	OMIM:608779
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Urinary incontinence, Neurogenic bladder, Elevated circulating creatine kinase concentration, Bow...	ORPHA:496641
Igg4-Related Submandibular Gland Disease	Abnormality of the kidney, Prostatitis, Cholangitis, Eosinophilia, Renal insufficiency, Xerostomia	ORPHA:449432
Currarino Syndrome	Perianal abscess, Urinary incontinence, Rectovaginal fistula, Recurrent urinary tract infections,...	OMIM:176450
Interstitial Cystitis	Abnormal labia morphology, Elevated circulating C-reactive protein concentration, Abnormal vagina...	ORPHA:37202
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Distal amyotrophy, Urinary incontinence, Impotence, Foot dorsiflexor weakness	ORPHA:98
Mu-Heavy Chain Disease	Bence Jones Proteinuria, Anemia, Splenomegaly, Weight loss, Abnormal B cell count, Nephropathy	ORPHA:100024
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Cachexia, Nephropathy, Proteinuria	ORPHA:2774
Pediatric Systemic Lupus Erythematosus	Chest pain, Hematuria, Abnormality of the urinary system, Arthritis, Skin rash, Discoid lupus ras...	ORPHA:93552
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Fa...	OMIM:604387
Machado-Joseph Disease Type 1	Distal lower limb amyotrophy, Neurogenic bladder, Skeletal muscle atrophy	ORPHA:276238
Machado-Joseph Disease Type 2	Distal lower limb amyotrophy, Neurogenic bladder, Skeletal muscle atrophy	ORPHA:276241
Alstrom Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased response to growth hormo...	OMIM:203800
Coenzyme Q10 Deficiency, Primary, 6	Nephrolithiasis, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, Proteinuria, St...	OMIM:614650
Heme Oxygenase 1 Deficiency	Hematuria, Thrombocytosis, Elevated circulating C-reactive protein concentration, Asplenia, Nephr...	OMIM:614034
Cednik Syndrome	Nephrotic syndrome, Proteinuria, Hypogonadism	ORPHA:66631
Nephrotic Syndrome, Type 3	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Diffuse mes...	OMIM:610725
Orthostatic Hypotension 1	Retrograde ejaculation, Reduced circulating prolactin concentration, Increased blood urea nitroge...	OMIM:223360
Renal Hypoplasia, Bilateral	Hyperkalemia, Anemia, Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microgl...	ORPHA:97362
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Neurogenic bladder, Xerostomia	OMIM:618527
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Lower limb amyotrophy, Myoglobinuria, Calf muscle hypertrophy, Wrist flexion contracture, Upper l...	ORPHA:206549
Dyskeratosis Congenita, Autosomal Dominant 3	Aplastic anemia, Anemia, Macrocytic anemia, Pancytopenia, Leukopenia, Thrombocytopenia, Urethral ...	OMIM:613990
Nephrotic Syndrome, Type 1	Glomerular sclerosis, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Hypothyroid...	OMIM:256300
Dent Disease 2	Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Elevated circulating crea...	OMIM:300555
Galloway-Mowat Syndrome 2, X-Linked	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Protei...	OMIM:301006
Distal 16P11.2 Microdeletion Syndrome	Abnormality of the kidney, Hyperuricemia, Vesicoureteral reflux, Renal agenesis, Obesity, Protein...	ORPHA:261222
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
Hypouricemia, Renal, 1	Acute kidney injury, Renal tubular epithelial necrosis, Hypouricemia, Uric acid nephrolithiasis, ...	OMIM:220150
Childhood Disintegrative Disorder	Urinary incontinence, Bowel incontinence	ORPHA:168782
Macs Syndrome	Recurrent aphthous stomatitis, Decreased body weight, Fatigue, Hypergonadotropic hypogonadism, Ur...	OMIM:613075
Genetic Steroid-Resistant Nephrotic Syndrome	Minimal change glomerulonephritis, Abdominal pain, Focal segmental glomerulosclerosis, Proteinuri...	ORPHA:656
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Obesity, Urinary incontinence	ORPHA:464282
Denys-Drash Syndrome	Gonadal dysgenesis, Male pseudohermaphroditism, Nephrotic syndrome, Proteinuria, Nephroblastoma, ...	ORPHA:220
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Anemia, Nephrotic syndrome, Proteinuria, Cryptorchidism, Nephropathy	ORPHA:1192
Proteinuria, Chronic Benign	Renal insufficiency, Proteinuria, Albuminuria	OMIM:618884
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Rhabdomyolysis, Renal insufficiency, Myalgia	OMIM:255110
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Neurogenic bladder	ORPHA:500144
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Megaloblastic anemia, Sideroblastic anemia, Hydronephrosis, Thrombocytopenia, Neutro...	OMIM:598500
Frasier Syndrome	Gonadal dysgenesis, Focal segmental glomerulosclerosis, Male pseudohermaphroditism, Nephrotic syn...	OMIM:136680
Glycogen Storage Disease V	Exercise intolerance, Hyperuricemia, Myoglobinuria, Exercise-induced myalgia, Elevated circulatin...	OMIM:232600
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Hemolytic-uremic syndrome, Anuria, Hyperlipidemia, Reticulocytosis, Increase...	OMIM:235400
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Urethrovesical occlusion, Arthrogryposis multiplex congenita	OMIM:226730
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Hypohidrosis, Recurrent pneumonia, Urethral stricture, Bronchiectasis, Failure to thrive in infan...	OMIM:301220
Congenital Nephrotic Syndrome, Finnish Type	Nephrotic syndrome, Elevated amniotic fluid alpha-fetoprotein, Proteinuria, Abnormal renal tubule...	ORPHA:839
Nephrotic Syndrome, Type 11	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal ...	OMIM:616730
Dopamine Beta-Hydroxylase Deficiency	Retrograde ejaculation, Anemia, Fatigue, Elevated urinary dopamine level, Increased blood urea ni...	ORPHA:230
Galloway-Mowat Syndrome 6	Decreased response to growth hormone stimulation test, Decreased body weight, Focal segmental glo...	OMIM:618347
Machado-Joseph Disease Type 3	Distal lower limb amyotrophy, Neurogenic bladder, Skeletal muscle atrophy	ORPHA:276244
Huntington Disease-Like 3	Urinary incontinence, Flexion contracture, Bowel incontinence	OMIM:604802
Primary Sjögren Syndrome	Normochromic anemia, Optic neuritis, Leukopenia, Lymphopenia, Erythema nodosum, Chronic pain, Abn...	ORPHA:289390
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydronephrosis, Hydroureter	OMIM:264140
Glycogen Storage Disease Due To Aldolase A Deficiency	Hyperkalemia, Acute kidney injury, Myoglobinuria, EMG: myopathic abnormalities, Elevated creatine...	ORPHA:57
Adrenomyeloneuropathy	Distal lower limb muscle weakness, Urinary incontinence, Erectile dysfunction, Adrenocorticotropi...	ORPHA:139399
Peroxisome Biogenesis Disorder 14B	Urinary incontinence, Hydrocele testis	OMIM:614920
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Increased serum pyruvate, Elevated circulating creatine kinase concentration, Rhab...	ORPHA:2364
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Giant cell hepatitis, Renal tubular acidosis, Glycosuria, Failure to thrive, Nephrocalcinosis, Pr...	OMIM:613404
Dyskeratosis Congenita, Autosomal Dominant 2	Aplastic anemia, Pancytopenia, Failure to thrive, Leukopenia, Thrombocytopenia, Urethral strictur...	OMIM:613989
Nephronophthisis 13	Nephronophthisis, Glomerular sclerosis, Multilamellation of medullary peritubular capillary basem...	OMIM:614377
Autosomal Dominant Cutis Laxa	Bronchiectasis, Bladder diverticulum, Pyelonephritis, Unilateral renal agenesis	ORPHA:90348
Autoimmune Polyendocrinopathy Type 4	Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi...	ORPHA:227990
Frasier Syndrome	Ambiguous genitalia, male, Glomerulopathy, Gonadoblastoma, Focal segmental glomerulosclerosis, Ma...	ORPHA:347
Imerslund-Grasbeck Syndrome 1	Microscopic hematuria, Megaloblastic anemia, Proteinuria	OMIM:261100
Renpenning Syndrome	Decreased testicular size, Cachexia, Hypospadias, Skeletal muscle atrophy	ORPHA:3242
Autoimmune Polyendocrinopathy Type 3	Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi...	ORPHA:227982
Combined Oxidative Phosphorylation Deficiency 34	Pancytopenia, Hypergonadotropic hypogonadism, Increased blood urea nitrogen, Failure to thrive, P...	OMIM:617872
Paganini-Miozzo Syndrome	Urinary incontinence, Hyperalaninemia	OMIM:301025
Congenital Myopathy 19	Facial hypotonia, Congenital contracture, Hydronephrosis, Skeletal muscle atrophy, Cryptorchidism...	OMIM:618578
Igg4-Related Ophthalmic Disease	Abnormality of the kidney, Prostatitis, Pancreatitis, Cholangitis, Elevated circulating C-reactiv...	ORPHA:449563
Lcat Deficiency	Hypertriglyceridemia, Acute kidney injury, Decreased HDL cholesterol concentration, Decreased glo...	ORPHA:650
Immunodeficiency 50	Recurrent urinary tract infections, Neutropenia, Lymphopenia, Eczematoid dermatitis	OMIM:300988
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Proximal muscle weakness in upper limbs, Exercise-induced myoglobinuria, Calf muscle pseudohypert...	ORPHA:352479
Spastic Paraplegia 44, Autosomal Recessive	Urinary incontinence	OMIM:613206
Spinocerebellar Ataxia 17	Urinary incontinence	OMIM:607136
Spastic Paraplegia 9B, Autosomal Recessive	Urinary retention, Urinary incontinence, Skeletal muscle atrophy, Foot dorsiflexor weakness	OMIM:616586
Uremic Pruritus	Hypermagnesemia, Increased blood urea nitrogen, Inflammatory abnormality of the skin, Hypercalcem...	ORPHA:94059
Alport Syndrome	Clitoral hypertrophy, Thin glomerular basement membrane, Hematuria, Renal glomerular foam cells, ...	ORPHA:63
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Iron deficiency anemia, Malar rash, Neutropenia in presence of anti-...	OMIM:603909
Acute Intermittent Porphyria	Elevated urinary delta-aminolevulinic acid, Limb pain, Proximal muscle weakness in upper limbs, U...	ORPHA:79276
Myoglobinuria, Autosomal Dominant	Acute kidney injury, Myalgia, Elevated circulating creatine kinase concentration, Myoglobinuria	OMIM:160010
Hypercalcemia, Infantile, 1	Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Failure to thrive, Nephroc...	OMIM:143880
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Nephrotic syndrome, Mucopolysacchariduria, Proteinuria, Small for ges...	OMIM:215250
Paroxysmal Nocturnal Hemoglobinuria	Asthenia, Abnormal erythrocyte enzyme concentration or activity, Impotence, Unconjugated hyperbil...	ORPHA:447
Neural Tube Defects, Susceptibility To	Urinary incontinence	OMIM:182940
Glycogen Storage Disease Ixd	Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Exercise-indu...	OMIM:300559
Galloway-Mowat Syndrome 5	Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta...	OMIM:617731
Scalp-Ear-Nipple Syndrome	Unilateral renal agenesis, Hypohidrosis, Renal hypoplasia, Renal insufficiency, Pyelonephritis	OMIM:181270
Spastic Paraplegia 31, Autosomal Dominant	Urinary urgency	OMIM:610250
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement memb...	OMIM:301050
Huntington Disease-Like 3	Urinary incontinence, Flexion contracture, Bowel incontinence	ORPHA:157946
Tbck-Related Intellectual Disability Syndrome	Abnormal circulating lipid concentration, Decreased response to growth hormone stimulation test, ...	ORPHA:488632
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Infertility, Male pseudohermaphroditism, Hypothyroidism, Ambiguous genitalia, Cryptorchidism, Hyp...	ORPHA:752
Multicentric Carpotarsal Osteolysis Syndrome	Congenital diaphragmatic hernia, Arthralgia, Proteinuria, Bilateral renal atrophy, Stage 5 chroni...	OMIM:166300
Neuropathy, Hereditary Sensory And Autonomic, Type V	Urinary incontinence, Anhidrosis, Low back pain, Osteoarthritis, Septic arthritis, Osteomyelitis	OMIM:608654
Malakoplakia	Prostate neoplasm, Hematuria, Abdominal pain, Skin rash, Dysuria, Urinary hesitancy, Urinary urge...	ORPHA:556
Posterior Column Ataxia With Retinitis Pigmentosa	Urinary incontinence, Recurrent urinary tract infections, Camptodactyly, Flexion contracture of f...	OMIM:609033
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Acute kidney injury, Increased muscle glycogen content, Exercise-induced myoglobinuria, Glycogen ...	ORPHA:368
8P23.1 Duplication Syndrome	Hydronephrosis, Adrenal insufficiency	ORPHA:251076
Intermediate Uveitis	Optic neuritis, Psoriasiform dermatitis, Tubulointerstitial nephritis, Anterior uveitis	ORPHA:279914
Spastic Paraplegia 54, Autosomal Recessive	Hypomimic face, Distal lower limb muscle weakness, Urinary incontinence, Bowel incontinence, Lowe...	OMIM:615033
Aa Amyloidosis	Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Abdominal pain, Nephrotic syndro...	ORPHA:85445
Hermansky-Pudlak Syndrome 6	Absent platelet dense granules, Urinary incontinence, Endometriosis, Recurrent urinary tract infe...	OMIM:614075
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Urinary incontinence	OMIM:221770
Galactose Epimerase Deficiency	Splenomegaly, Aminoaciduria, Weight loss	ORPHA:79238
Nephrotic Syndrome, Type 22	Glomerular sclerosis, Nephrotic range proteinuria, Hypoproteinemia, Podocyte foot process effacem...	OMIM:619155
Cat-Eye Syndrome	Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney	ORPHA:195
Aredyld Syndrome	Cachexia, Splenomegaly, Abnormality of the ureter	ORPHA:1133
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Aplasia of the vagina, Recurrent urinary tract infections, Aplasia of ...	OMIM:614527
Mckusick-Kaufman Syndrome	Hydrometrocolpos, Renal hypoplasia/aplasia, Glandular hypospadias, Urogenital sinus anomaly, Fail...	ORPHA:2473
Porphyria, Acute Intermittent	Elevated urinary delta-aminolevulinic acid, Urinary incontinence, Abdominal pain, Dysuria, Reduce...	OMIM:176000
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Acute kidney injury, Acute rhabdomyolysis, Myoglobinuria, Elevated circulating crea...	OMIM:268200
Sandhoff Disease	Urinary incontinence, Impotence, Episodic abdominal pain, Hypohidrosis, Increased urinary N-acety...	OMIM:268800
Nephrotic Syndrome, Type 8	Thin glomerular basement membrane, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Hypoa...	OMIM:615244
Severe Generalized Junctional Epidermolysis Bullosa	Renal tubular epithelial necrosis, Ureterocele, Abnormal blood ion concentration, Pyoderma, Abnor...	ORPHA:79404
Glycogen Storage Disease Vii	Increased muscle glycogen content, Exercise intolerance, Exercise-induced myoglobinuria, Hematuri...	OMIM:232800
Fragile X Tremor/Ataxia Syndrome	Premature ovarian insufficiency, Urinary incontinence, Impotence, Bowel incontinence, Hypothyroid...	OMIM:300623
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Decreased body weight, Increased blood urea ...	OMIM:620085
Fanconi Anemia, Complementation Group O	External genital hypoplasia, Renal cyst, Hydronephrosis, Stage 5 chronic kidney disease, Cryptorc...	OMIM:613390
Chiari Malformation Type I	Neck pain, Urinary incontinence, Limb muscle weakness	OMIM:118420
Aids Wasting Syndrome	Cachexia, Skeletal muscle atrophy, Weight loss	ORPHA:90081
Pulmonary Blastoma	Chest pain, Recurrent pneumonia, Weight loss	ORPHA:64741
Cockayne Syndrome	Urinary incontinence, Unilateral renal agenesis, Limb hypertonia, Hyperuricemia, Malar rash, Cach...	ORPHA:191
Exstrophy-Epispadias Complex	Urinary incontinence, Bifid penis, Bifid scrotum, Bladder fistula, Bladder duplication, Cystocele...	ORPHA:322
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome	Urinary urgency	OMIM:618878
Neuroleptic Malignant Syndrome	Hyperkalemia, Acute kidney injury, Urinary incontinence, Hyperuricemia, Hypocalcemia, Myoglobinur...	ORPHA:94093
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Urinary incontinence, Bowel incontinence	OMIM:618868
Phosphoglycerate Kinase 1 Deficiency	Exercise intolerance, Exercise-induced myoglobinuria, Reticulocytosis, Rhabdomyolysis, Erythroid ...	OMIM:300653
Spinocerebellar Ataxia Type 42	Psoriasiform dermatitis, Urinary incontinence, Impotence, Urinary urgency	ORPHA:458803
Parkinsonian-Pyramidal Syndrome	Hypomimic face, Neurogenic bladder	ORPHA:171695
Cryptococcosis	Prostatitis, Lymphoid leukemia, Limb muscle weakness, Peritonitis, Pneumonia, Chest pain, Osteomy...	ORPHA:1546
Cocaine Intoxication	Acute kidney injury, Hematuria, Abdominal pain, Colitis, Flank pain, Elevated circulating creatin...	ORPHA:90068
Attrv30M Amyloidosis	Abnormal renal physiology, Impotence, Weight loss, Nephropathy	ORPHA:85447
Lateral Meningocele Syndrome	Neurogenic bladder, Decreased muscle mass, Cryptorchidism	OMIM:130720
Diffuse Alveolar Hemorrhage	Hematuria, Anemia, Leukocytosis, Thrombocytopenia, Proteinuria, Weight loss, Elevated circulating...	ORPHA:90060
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Hemolytic-uremic syndrome, Reduced haptoglobin level, Anemia, Schistocytosis, Lymphopenia, Hypere...	OMIM:301110
Spondylocostal Dysostosis 4, Autosomal Recessive	Neurogenic bladder	OMIM:613686
Papa Syndrome	Myositis, Arthritis, Crohn's disease, Fatigue, Pustule, Arthralgia, Proteinuria, Acne, Increased ...	ORPHA:69126
Silver-Russell Syndrome	Hypospadias, Abnormal vagina morphology, Abnormal male external genitalia morphology, Cachexia, D...	ORPHA:813
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Exercise intolerance, Myoglobinuria, Exercise-induced myalgia, Elevated circulating creatine kina...	OMIM:620138
Cockayne Syndrome Type 3	Hydroureter, Unilateral renal agenesis, Neurogenic bladder, Renal hypoplasia, Hydronephrosis, Spl...	ORPHA:90324
Bardet-Biedl Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Childhood-onset truncal obesity, H...	ORPHA:110
Galloway-Mowat Syndrome 7	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Eczematoid dermatitis, Nep...	OMIM:618348
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Abnormality of the kidney, Postexertional symptom exacerbation, Hyperlipidemia, Failure to thrive...	ORPHA:369
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Hyperbilirubinemia, Exercise-induced myalgia, Reticulocytosis, Decreased hemoglobi...	ORPHA:713
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Urinary incontinence, Iron deficiency anemia, Hypotrigly...	OMIM:618885
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Asthenia, Skin rash, Pericarditis, Splenomegaly, Myocar...	ORPHA:829
Juvenile Amyotrophic Lateral Sclerosis	Urinary incontinence, Retrocollis, Lower-limb joint contracture, Cachexia, Distal amyotrophy, Upp...	ORPHA:300605
Camptobrachydactyly	Septate vagina, Urinary incontinence, Congenital finger flexion contractures	OMIM:114150
Primary Hyperoxaluria Type 3	Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Pollakisuria, Dysuria, Abnormality of ...	ORPHA:93600
Igg4-Related Aortitis	Elevated circulating C-reactive protein concentration, Abdominal pain, Hydronephrosis, Weight los...	ORPHA:449400
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Tubulointerstitial fibrosis, Glycosuria, Proteinuria, Hypophosphatemia,...	OMIM:618913
Simple Cryoglobulinemia	Abnormality of the kidney, Chronic lymphatic leukemia, Arthritis, Abdominal pain, Viral hepatitis...	ORPHA:91139
Free Sialic Acid Storage Disease	Nephrotic syndrome, Splenomegaly, Proteinuria, Aplasia/Hypoplasia of the abdominal wall musculatu...	ORPHA:834
Pseudo-Torch Syndrome 3	Acute kidney injury, Anemia, Lymphadenitis, Leukocytosis, Proteinuria, Increased circulating ferr...	OMIM:618886
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Anemia, Macroglossia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Ne...	OMIM:617303
Vesicoureteral Reflux 3	Hydroureter, Recurrent urinary tract infections, Grade III vesicoureteral reflux, Ureteropelvic j...	OMIM:613674
Indifference To Pain, Congenital, Autosomal Recessive	Hypohidrosis, Urinary incontinence, Anhidrosis	OMIM:243000
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis	OMIM:235760
Legionnaires Disease	Myocarditis, Hematuria, Pancreatitis, Abdominal pain, Fatigue, Hepatitis, Pericarditis, Hyponatre...	ORPHA:549
Oligomeganephronia	Congenital diaphragmatic hernia, Abnormal nephron morphology, Elevated circulating creatinine con...	ORPHA:2260
Dent Disease	Tubulointerstitial fibrosis, Proximal tubulopathy, Nephrocalcinosis, Renal hypophosphatemia, Rena...	ORPHA:1652
Adult Krabbe Disease	Urinary incontinence, Erectile dysfunction, Upper limb muscle weakness, Lower limb muscle weakness	ORPHA:206448
Cockayne Syndrome Type 1	Anemia, Foot joint contracture, Cryptorchidism, Increased blood urea nitrogen, Failure to thrive,...	ORPHA:90321
Cryoglobulinemia, Familial Mixed	Hematuria, Abnormal renal physiology, Proteinuria, Chronic kidney disease, Elevated circulating c...	OMIM:123550
Genetic Recurrent Myoglobinuria	Hyperkalemia, Acute kidney injury, Proximal muscle weakness in upper limbs, Exercise-induced myog...	ORPHA:99845
Williams-Beuren Region Duplication Syndrome	Chronic otitis media, Decreased response to growth hormone stimulation test, Unilateral renal age...	OMIM:609757
Spinocerebellar Ataxia Type 19/22	Urinary incontinence	ORPHA:98772
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Ragged-red muscle fibers, Cachexia, Abdominal pain, Slender build, Weight loss	OMIM:613662
Fanconi Renotubular Syndrome 3	Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Elevated circulating creatinine ...	OMIM:615605
Intellectual Developmental Disorder, Autosomal Dominant 42	Limb hypertonia, Neurogenic bladder, Congenital hypothyroidism, Failure to thrive, Ureteropelvic ...	OMIM:616973
Orofaciodigital Syndrome Xv	Hydronephrosis	OMIM:617127
Cryoglobulinemic Vasculitis	Glomerulopathy, Hematuria, Arthritis, Abdominal pain, Viral hepatitis, Arthralgia, Proteinuria, S...	ORPHA:91138
Central Diabetes Insipidus	Hyponatremia, Failure to thrive, Nocturia, Weight loss	ORPHA:178029
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Gastrointestinal inflammation, Chronic pain, Anemia, Chronic kidney disease, Iron deficiency anem...	ORPHA:79408
Xfe Progeroid Syndrome	Premature ovarian insufficiency, Cachexia, Failure to thrive, Proteinuria, Hypoalbuminemia, Renal...	OMIM:610965
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia, Distal amyotrophy, Nonprogressive muscular atrophy	ORPHA:1216
Systemic Capillary Leak Syndrome	Myocarditis, Abnormal renal tubule morphology, Pancreatitis, Abdominal pain, Leukocytosis, Fatigu...	ORPHA:188
Marchiafava-Bignami Disease	Urinary incontinence, Facial palsy, Limb hypertonia	ORPHA:221074
Cystinosis	Hypokalemia, Nephropathy, Fatigue, Hypothyroidism, Failure to thrive, Proteinuria, Hypophosphatem...	ORPHA:213
Mitochondrial Membrane Protein-Associated Neurodegeneration	Urinary incontinence, Bowel incontinence	ORPHA:289560
Sarcoidosis	Increased T cell count, Nephrocalcinosis, Leukopenia, Erythema nodosum, Abnormal reproductive sys...	ORPHA:797
Coenzyme Q10 Deficiency, Primary, 1	Anemia, Glomerular sclerosis, Recurrent myoglobinuria, Pancytopenia, Decreased level of coenzyme ...	OMIM:607426
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Multiple bladder diverticula, Recurrent otitis media, Proteinuria, Small scrotum, Cryptorchidism	ORPHA:2728
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Low back pain, Urinary incontinence, Bowel incontinence	OMIM:600142
Idiopathic Achalasia	Chest pain, Decreased circulating prealbumin concentration, Recurrent aspiration pneumonia, Weigh...	ORPHA:930
Charcot-Marie-Tooth Disease Type 1F	Proximal muscle weakness in upper limbs, Urinary incontinence, Distal lower limb muscle weakness,...	ORPHA:101085
Yao Syndrome	Arthritis, Skin rash, Xerostomia, Abdominal pain, Nephrolithiasis, Pericarditis, Inflammatory abn...	OMIM:617321
Transcobalamin Deficiency	Acute kidney injury, Pancytopenia, Thrombocytopenia, Lymphopenia, Methylmalonic aciduria, Neutrop...	ORPHA:859
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydronephrosis, Hydroureter	OMIM:618240
Wieacker-Wolff Syndrome, Female-Restricted	Urinary incontinence, Facial palsy, Hip contracture, Achilles tendon contracture, Flexion contrac...	OMIM:301041
Fanconi Renotubular Syndrome 2	Decreased glomerular filtration rate, Renal phosphate wasting, Generalized aminoaciduria, Hyperca...	OMIM:613388
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hematuria, Unilateral renal dysplasia, Hypoparathyroidism, Aplasia of the vagina, Aplasia of the ...	OMIM:146255
Spinocerebellar Ataxia 10	Urinary incontinence, Urinary urgency	OMIM:603516
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerular sclerosis, Nephrotic syndrome, Proteinuria, Glomerulonephritis	OMIM:619428
Schimke Immuno-Osseous Dysplasia	Abnormality of thyroid physiology, Pancreatitis, Anemia, Abnormal proportion of naive CD4 T cells...	ORPHA:1830
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Acute kidney injury, Exercise-induced myoglobinuria, Exercise-induced myalgia, Superficial dermal...	ORPHA:284426
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Large for gestational age, Hypouricemia, Glycosuria, Hyperphosphaturia, Nephrocalcinosis, Protein...	OMIM:616026
Mitochondrial Neurogastrointestinal Encephalomyopathy	Anemia, Ragged-red muscle fibers, Cachexia, Abdominal pain, Hyperalaninemia, Hypergonadotropic hy...	ORPHA:298
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Hydronephrosis, Decreased body weight, Arthrogryposis multiplex congenita, Vesicoureteral reflux	OMIM:618265
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Urinary incontinence, Decreased body weight, Bowel incontinence, Flexion contracture, Skeletal mu...	OMIM:300243
Plasminogen Deficiency, Type I	Periodontitis, Nephrolithiasis, Decreased level of plasminogen, Nephritis, Conjunctivitis	OMIM:217090
Immunoneurologic Disorder, X-Linked	Functional abnormality of the bladder	OMIM:300076
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Hypotriglyceridemia, Skin rash, Increased body weight, ...	ORPHA:2298
Ring Chromosome 10 Syndrome	Hypocalcemia, Cachexia, Renal hypoplasia/aplasia	ORPHA:1438
6P22 Microdeletion Syndrome	Hydronephrosis	ORPHA:251046
Spinocerebellar Ataxia Type 13	Urinary incontinence, Torticollis, Urinary urgency	ORPHA:98768
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Neutropenia, Hyperuricemia, Focal segmental glomerulosclerosis, Renal cyst, Gout, Elevate...	OMIM:617056
Multiple System Atrophy 1, Susceptibility To	Urinary incontinence, Impotence, Urinary urgency, Hypohidrosis, Anhidrosis, Skeletal muscle atrophy	OMIM:146500
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Exercise intolerance, Cholangitis, Hypertyrosinemia, Ragged-red muscle fibers, Failure to thrive,...	OMIM:124000
Renal Nutcracker Syndrome	Hematuria, Anemia, Abdominal pain, Infertility, Renal artery stenosis, Dyspareunia, Flank pain, V...	ORPHA:71273
Spastic Paraplegia 9A, Autosomal Dominant	Generalized amyotrophy, Urinary incontinence, Urinary urgency	OMIM:601162
Desmoid Tumor	Abdominal pain, Abnormality of the upper urinary tract, Hydronephrosis, Arthralgia, Myalgia, Ches...	ORPHA:873
Galloway-Mowat Syndrome 10	Congenital hypothyroidism, Podocyte foot process effacement, Proteinuria, Diffuse mesangial scler...	OMIM:619609
Intellectual Developmental Disorder, X-Linked 90	Enuresis	OMIM:300850
19Q13.11 Microdeletion Syndrome	Hypospadias, Cachexia, Bifid scrotum, Failure to thrive, Cryptorchidism	ORPHA:217346
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Episodic hyperhidrosis, Glomerular sclerosis, Increased blood urea nitrogen, Abnormal renal physi...	OMIM:223900
Penoscrotal Transposition	Penoscrotal transposition, Hypospadias, Abnormal external genitalia, Abnormality of the ureter, R...	ORPHA:2842
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hydronephrosis, Cryptorchidism	OMIM:619797
Dyskeratosis Congenita	Anemia, Periodontitis, Abnormal testis morphology, Blepharitis, Hyperhidrosis, Displacement of th...	ORPHA:1775
Dyskeratosis Congenita, X-Linked	Anemia, Hypospadias, Acute myeloid leukemia, Pancytopenia, Phimosis, Decreased testicular size, B...	OMIM:305000
Spinocerebellar Ataxia 2	Distal amyotrophy, Urinary incontinence, Urinary bladder sphincter dysfunction	OMIM:183090
Becker Muscular Dystrophy	Exercise intolerance, Myoglobinuria, Elevated circulating creatine kinase concentration, Fatigue,...	ORPHA:98895
Moynahan Syndrome	Cachexia, Hypogonadism	ORPHA:2574
Goodpasture Syndrome	Anemia, Glomerular crescent formation, Renal insufficiency, Fatigue, Increased blood urea nitroge...	OMIM:233450
Galloway-Mowat Syndrome 4	Focal segmental glomerulosclerosis, Congenital nephrotic syndrome, Nephrotic syndrome, Diffuse me...	OMIM:617730
Joubert Syndrome 35	Recurrent urinary tract infections, Hydronephrosis, Multicystic kidney dysplasia, Renal fibrosis	OMIM:618161
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Urinary incontinence, Limb hypertonia	OMIM:620070
Xanthinuria, Type Ii	Xanthinuria, Hypouricemia, Nephrolithiasis, Increased circulating hypoxanthine concentration, Inc...	OMIM:603592
Imerslund-Grasbeck Syndrome 2	Anemia, Recurrent urinary tract infections, Megaloblastic anemia, Proteinuria, Renal insufficienc...	OMIM:618882
Idiopathic Bronchiectasis	Acute infectious pneumonia, Cachexia, Halitosis, Bronchiectasis, Chest pain	ORPHA:60033
Congenital Muscular Dystrophy Due To Lmna Mutation	Flexion contracture, Cachexia, Myopathy, Skeletal muscle atrophy	ORPHA:157973
Renal Glucosuria	Glycosuria, Polyuria, Enuresis nocturna	OMIM:233100
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c...	ORPHA:35858
Neuraminidase Deficiency	Vacuolated lymphocytes, Bone-marrow foam cells, Urinary excretion of sialylated oligosaccharides,...	OMIM:256550
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Focal segmental glomerulosclerosis, Nephrotic syndrome, Enterocolitis, Failure to thrive, Mild pr...	OMIM:301108
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Abnormal renal morphology, Decreased numbers of nephrons, Atretic vas ...	OMIM:137920
Autosomal Dominant Spastic Paraplegia Type 9A	Urinary incontinence, Pollakisuria, Urinary urgency, Lower limb hypertonia, Low back pain, Lower ...	ORPHA:447753
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Renal hypoplasia/aplasia, Hydroureter, Abnormal internal genitalia, Urogenital sinus anomaly, Fem...	ORPHA:2973
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Anemia, Hypochromic microcytic anemia, Increased serum pyruvate, Hyperalaninemia, Hypothyroidism,...	OMIM:619147
Amyotrophic Lateral Sclerosis 2, Juvenile	Urinary incontinence, Retrocollis, Distal amyotrophy, Spasticity of facial muscles, Hand muscle a...	OMIM:205100
Juvenile Nephropathic Cystinosis	Proximal tubulopathy, Hypophosphatemia, Elevated circulating creatinine concentration, Stage 5 ch...	ORPHA:411634
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Hematuria, Inflammatory abnormality of the eye, Arthritis, Skin rash, Abdominal p...	ORPHA:36412
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Thyroiditis, Xerostomia, Tubulointerstitial nephritis, Fatigue, Thrombocytopenia, Weigh...	ORPHA:79078
Fanconi Renotubular Syndrome 1	Low-molecular-weight proteinuria, Hypokalemia, Renal tubular dysfunction, Glycosuria, Hyperphosph...	OMIM:134600
Dent Disease 1	Low-molecular-weight proteinuria, Renal phosphate wasting, Hypercalciuria, Bone pain, Proximal tu...	OMIM:300009
Whipple Disease	Myocarditis, Anemia, Erectile dysfunction, Myositis, Arthritis, Cachexia, Abdominal pain, Fatigue...	ORPHA:3452
Fanconi-Bickel Syndrome	Increased serum bile acid concentration, Generalized aminoaciduria, Renal tubular dysfunction, Hy...	OMIM:227810
Spinocerebellar Ataxia Type 8	Urinary incontinence, Impotence	ORPHA:98760
Aicardi-Goutieres Syndrome 9	Anemia, Hypothyroidism, Glomerular sclerosis, Renal insufficiency, Recurrent urinary tract infect...	OMIM:619487
Renal Agenesis	Absent vas deferens, Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral rena...	ORPHA:411709
Holocarboxylase Synthetase Deficiency	Perioral eczema, Organic aciduria, Keratoconjunctivitis, Eczematoid dermatitis, Hyperammonemia, T...	ORPHA:79242
Familial Mediterranean Fever	Elevated circulating C-reactive protein concentration, Crohn's disease, Arthritis, Abdominal pain...	OMIM:249100
Alagille Syndrome 2	Hematuria, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Proteinuria, Renal insufficiency	OMIM:610205
Frontometaphyseal Dysplasia 2	Neurogenic bladder, Camptodactyly, Hip contracture, Decreased muscle mass, Ulcerative colitis, Cr...	OMIM:617137
Papillorenal Syndrome	Elevated circulating creatinine concentration, Hematuria, Horseshoe kidney, Vesicoureteral reflux...	OMIM:120330
Cystinosis, Nephropathic	Generalized aminoaciduria, Primary hypothyroidism, Hypophosphatemia, Splenomegaly, Stage 5 chroni...	OMIM:219800
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Retractile testis, Urinary incontinence, Elevated circulating creatine kinase concentration, Bowe...	OMIM:617193
Capillary Malformation-Arteriovenous Malformation	Neurogenic bladder, Abnormality of the musculature of the limbs	ORPHA:137667
Glycogen Storage Disease Ii	Increased muscle glycogen content, Exercise intolerance, Urinary incontinence, Increased circulat...	OMIM:232300
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hematuria, Episodic hyperhidrosis, Glomerular sclerosis, Elevated urinary epinephrine level, Elev...	ORPHA:276621
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Acute kidney injury, Renal insufficiency, Hyperuricemia, Dysuria, Uric acid nephrolithiasis, Macr...	ORPHA:79233
Rhabdoid Tumor	Renal neoplasm, Hematuria, Anemia, Abdominal pain, Hypercalcemia, Thrombocytopenia, Weight loss	ORPHA:69077
Oculodentodigital Dysplasia	Joint contracture of the 5th finger, Neurogenic bladder, Uveitis	OMIM:164200
Riboflavin Transporter Deficiency	Cachexia, Facial palsy, Limb muscle weakness, Skeletal muscle atrophy, Hypogonadism	ORPHA:97229
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	Renal hypoplasia, Hydronephrosis, Failure to thrive, Vesicoureteral reflux	OMIM:613735
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Urinary incontinence	OMIM:125310
Oculodentodigital Dysplasia	Camptodactyly of finger, Neurogenic bladder	ORPHA:2710
Mcdonough Syndrome	Cachexia, Cryptorchidism, Aplasia/Hypoplasia of the abdominal wall musculature	ORPHA:2471
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Exercise intolerance, Myoglobinuria, Exercise-induced myalgia, Red-brown urine, Elevated circulat...	ORPHA:228305
Ketamine-Induced Biliary Dilatation	Dysuria	ORPHA:293807
Aapoaiv Amyloidosis	Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Hyp...	ORPHA:439232
Sacral Defect With Anterior Meningocele	Rectal abscess, Neurogenic bladder, Urinary retention, Back pain	OMIM:600145
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hypospadias, Duplicated collecting system, Vesicoureteral reflux, Elevated circulating creatine k...	OMIM:301056
Congenital Disorder Of Glycosylation, Type Iif	Thrombocytopenia, Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia	OMIM:603585
Al Amyloidosis	Abnormality of the kidney, Renal interstitial amyloid deposits, Anemia, Increased circulating NT-...	ORPHA:85443
Epidermolysis Bullosa Simplex With Pyloric Atresia	Muscular dystrophy, Glomerular sclerosis, Aplasia of the bladder, Elevated circulating creatine k...	ORPHA:158684
Frontometaphyseal Dysplasia	Hypoplasia of the musculature, Elbow flexion contracture, Shoulder muscle hypoplasia, Wrist flexi...	ORPHA:1826
Metachromatic Leukodystrophy	Urinary incontinence, Cholecystitis	OMIM:250100
Bor Syndrome	Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Facial palsy, Ureteropelvic...	ORPHA:107
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Urinary incontinence, Recurrent otitis media, Bowel incontinence, Uterine leiomyoma, Irregular me...	OMIM:616482
Opitz Gbbb Syndrome	Rectourethral fistula, Hypospadias, Vesicoureteral reflux, Congenital posterior urethral valve, C...	OMIM:300000
Joubert Syndrome 37	Decreased testicular size, Obesity, Hydronephrosis, Cryptorchidism, Micropenis	OMIM:619185
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Stress urinary incontinence	ORPHA:136
Encephalitis Lethargica	Limb pain, Urinary incontinence, Upper limb muscle weakness, Bowel incontinence, Myalgia	ORPHA:83600
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Anemia, Skeletal muscle steatosis, Glycosuria, Hyperphosphaturia, Failure to thrive, Proteinuria,...	ORPHA:436271
Endove Syndrome, Limb-Only Type	Vesicoureteral reflux, Hydronephrosis, Hypoplastic labia majora	OMIM:619217
X-Linked Immunoneurologic Disorder	Functional abnormality of the bladder	ORPHA:2571
Generalized Pustular Psoriasis	Cheilitis, Elevated circulating C-reactive protein concentration, Hypocalcemia, Arthritis, Leukoc...	ORPHA:247353
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Proximal upper limb amyotrophy, Proximal muscle weakness in upper limbs, Urinary incontinence, Di...	ORPHA:466768
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Myoglobinuria, Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, Incre...	ORPHA:119
Spastic Paraplegia 89, Autosomal Recessive	Functional abnormality of the bladder	OMIM:620379
Lysosomal Acid Lipase Deficiency	Renal salt wasting, Hypertriglyceridemia, Hyperkalemia, Anemia, Cachexia, Vacuolated lymphocytes,...	ORPHA:275761
Non-Functioning Paraganglioma	Hematuria, Episodic hyperhidrosis, Elevated urinary epinephrine level, Elevated urinary norepinep...	ORPHA:94080
Leiomyomatosis, Diffuse, With Alport Syndrome	Hematuria, Nephropathy, Microscopic hematuria, Thickened glomerular basement membrane, Failure to...	OMIM:308940
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Hypomagnesemia 3, Renal	Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Elevated circulating cre...	OMIM:248250
Meier-Gorlin Syndrome 7	Meconium peritonitis, Clitoral hypertrophy, Hypospadias, Vesicoureteral reflux, Decreased body we...	OMIM:617063
Johanson-Blizzard Syndrome	Abnormality of the female genitalia, Anemia, Hypospadias, Hypoplasia of penis, Abnormal vagina mo...	ORPHA:2315
Bardet-Biedl Syndrome 12	Hydrometrocolpos, Hydroureter, Obesity, Hydronephrosis, Vaginal atresia, Hypogonadism, Cystic ren...	OMIM:615989
Kindler Epidermolysis Bullosa	Cheilitis, Anemia, Periodontitis, Phimosis, Esophagitis, Inflammation of the large intestine, Con...	ORPHA:2908
Cranioectodermal Dysplasia 1	Hypocalcemia, Stage 1 chronic kidney disease, Chronic kidney disease, Stage 5 chronic kidney dise...	OMIM:218330
Pelizaeus-Merzbacher Disease	Cachexia, Abnormality of the urinary system, Failure to thrive in infancy, Bowel incontinence	ORPHA:702
Amyloidosis, Hereditary, Transthyretin-Related	Urinary incontinence, Impotence	OMIM:105210
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Exercise intolerance, Anemia, Glycosuria, Hyperphosphaturia, Failure to thrive, Increased intramy...	OMIM:220110
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	3-Methylglutaconic aciduria, Neutropenia, Myoglobinuria, Lower limb muscle weakness, Elevated cir...	OMIM:251900
Non-Syndromic Posterior Hypospadias	Congenital diaphragmatic hernia, Bifid scrotum, Urethral diverticulum, Displacement of the urethr...	ORPHA:95706
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Hydroureter, Fetal megacystis	OMIM:249210
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Anemia, Pancytopenia, Focal segmental glomerulosclerosis, Bilateral c...	OMIM:242900
Diabetic Embryopathy	Renal hypoplasia/aplasia, Ureteral duplication, Hydronephrosis, Aplasia/Hypoplasia of the abdomin...	ORPHA:1926
Solitary Fibrous Tumor	Hypophosphatemic rickets, Fatigue, Abnormal prostate morphology, Vaginal neoplasm, Prostate cance...	ORPHA:2126
Recombinant Chromosome 8 Syndrome	Cryptorchidism, Hydronephrosis, Camptodactyly, Joint contracture of the hand	OMIM:179613
Myopathy With Lactic Acidosis, Hereditary	Exercise intolerance, Anemia, Myoglobinuria, Elevated circulating creatine kinase concentration, ...	OMIM:255125
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Bladder diverticulum	OMIM:617821
Netherton Syndrome	Ectopic kidney, Skin rash, Eczematoid dermatitis, Hydronephrosis, Erythroderma, Aminoaciduria	ORPHA:634
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Elevated urinary inosine level, Hypouricemia, Recurrent urinary trac...	OMIM:613179
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Cachexia, Decreased testicular size, Camptodactyly of finger, Obesity, Hyper...	ORPHA:85293
Primary Fanconi Renotubular Syndrome	Generalized aminoaciduria, Abnormal urine pH, Bicarbonate-wasting renal tubular acidosis, Hypopho...	ORPHA:3337
Osteootohepatoenteric Syndrome	Anemia, Increased serum bile acid concentration, Hypokalemia, Abdominal pain, Failure to thrive, ...	OMIM:619377
Primary Myelofibrosis	Anemia, Thrombocytosis, Pancytopenia, Cachexia, Flank pain, Leukocytosis, Fatigue, Poikilocytosis...	ORPHA:824
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Panniculitis, Anemia, Monocytosis, Erythroid hypoplasia, Recurrent urinary trac...	OMIM:612541
Mulibrey Nanism	Cachexia	ORPHA:2576
Erdheim-Chester Disease	Anemia, Bone pain, Abdominal pain, Skin rash, Dysuria, Fatigue, Hydronephrosis, Hyperhidrosis, We...	ORPHA:35687
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Hydronephrosis, Cryptorchidism	OMIM:618060
Hypophosphatemic Rickets, X-Linked Recessive	Low-molecular-weight proteinuria, Hypophosphatemic rickets, Renal phosphate wasting, Hypercalciur...	OMIM:300554
Kindler Syndrome	Phimosis, Periodontitis, Urethral stenosis	OMIM:173650
Renal Hypodysplasia/Aplasia 1	Bilateral renal agenesis, Bicornuate uterus, Proteinuria, Vaginal atresia, Primary amenorrhea, Re...	OMIM:191830
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Hypophosphatemic rickets, Increased body weight, Fatigue, Glycosuria, ...	ORPHA:263455
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Abnormality of the female genitalia, Dyspepsia, Hematuria, Precordial pain, Aspiration pneumonia,...	ORPHA:1018
Familial Mediterranean Fever	Pancreatitis, Arthritis, Skin rash, Abdominal pain, Leukocytosis, Nephrotic syndrome, Pericarditi...	ORPHA:342
Glycogen Storage Disease Ia	Enlarged kidney, Pancreatitis, Decreased glomerular filtration rate, Hyperuricemia, Hyperlipidemi...	OMIM:232200
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Fatigue, Central hypothyroidism, W...	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	Recurrent urinary tract infections, Dysuria, Hematuria	ORPHA:284400
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Anemia, Elevated ur...	OMIM:256700
Monosomy 22Q13.3	Vesicoureteral reflux, Hypohidrosis, Obesity, Hydronephrosis, Recurrent pyelonephritis, Renal dys...	ORPHA:48652
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Renal cyst, Abnormality of the ureter,...	ORPHA:1834
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Exercise intolerance, Anemia, Renal tubular acidosis, Myoglobinuria, Increa...	ORPHA:79240
Intellectual Developmental Disorder, X-Linked 98	Urinary incontinence, Lower limb amyotrophy, Central hypothyroidism, Failure to thrive, Steroid-d...	OMIM:300912
Vacterl/Vater Association	Congenital diaphragmatic hernia, Ectopic kidney, Hypospadias, Hypoplasia of penis, Bifid scrotum,...	ORPHA:887
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Increased mean platelet volume, Hydronephrosis, Thrombocytopenia	OMIM:300048
Glycogen Storage Disease Ib	Enlarged kidney, Pancreatitis, Decreased glomerular filtration rate, Hyperuricemia, Hyperlipidemi...	OMIM:232220
Immunodeficiency 97 With Autoinflammation	Hypertriglyceridemia, Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer...	OMIM:619802
Metachromatic Leukodystrophy, Late Infantile Form	Urinary incontinence, Cholecystitis	ORPHA:309256
Ectodermal Dysplasia-Skin Fragility Syndrome	Cheilitis, Anoperineal fistula, Hypohidrosis, Failure to thrive, Recurrent pneumonia, Urethral st...	ORPHA:158668
Sporadic Infantile Bilateral Striatal Necrosis	Hypomimic face, Urinary incontinence	ORPHA:225147
Igg4-Related Pachymeningitis	Pancreatitis, Elevated circulating C-reactive protein concentration, Parotitis, Neck pain, Lympha...	ORPHA:449427
Immunodeficiency 52	Abnormal natural killer cell count, T lymphocytopenia, Failure to thrive, Recurrent pneumonia, Sp...	OMIM:617514
Christianson Syndrome	Cachexia, Decreased muscle mass, Arthrogryposis multiplex congenita	ORPHA:85278
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Long-chain dicarboxylic aciduria, Polycystic kidney dyspla...	OMIM:608836
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Camptodactyly of finger, Hydronephrosis, Small scrotum, Cryptorchidism	ORPHA:2083
Wild Type Attr Amyloidosis	Renal insufficiency, Bowel incontinence, Nephrotic syndrome, Proteinuria, Weight loss, Nephropathy	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, Myositis, Leukocytosis, Weight loss, Recurrent cutaneous abscess formation, ...	ORPHA:764
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Enlarged kidney, Tubulointerstitial fibrosis, Chronic neutropenia, Hyperlip...	ORPHA:79259
Acute Promyelocytic Leukemia	Hematuria, Anemia, Pancytopenia, Stomatitis, Abdominal pain, Bone pain, Leukocytosis, Fatigue, Le...	ORPHA:520
Ddost-Cdg	Primary hypothyroidism, Failure to thrive, Nephrotic range proteinuria	ORPHA:300536
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Hypoparathyroidism, Unilateral renal agenesis, Hypocalcemia, Polycystic ki...	ORPHA:2237
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Abdominal pain, Hyperlipidemia, Focal segmental glomeruloscler...	ORPHA:567546
Postinfectious Vasculitis	Abnormal circulating protein concentration, Chills, Bacterial endocarditis, Abdominal pain, Viral...	ORPHA:48435
Isolated Congenital Hypoglossia/Aglossia	Weight loss, Aspiration pneumonia	ORPHA:141152
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Acute kidney injury, Methylmalonic acidemia, Hemolytic-uremic syndrome, Hematuria, Homocystinuria...	OMIM:277400
Williams Syndrome	Chronic otitis media, Abnormal circulating lipid concentration, Hypoplasia of penis, Nephrocalcin...	ORPHA:904
Brucellosis	Asthenia, Granuloma, Intrarenal abscess, Pericarditis, Hyperhidrosis, Leukopenia, Splenomegaly, C...	ORPHA:1304
Hereditary Pheochromocytoma-Paraganglioma	Hematuria, Episodic hyperhidrosis, Glomerular sclerosis, Elevated urinary epinephrine level, Elev...	ORPHA:29072
Primary Hyperoxaluria Type 1	Calcinosis, Hematuria, Decreased glomerular filtration rate, Anemia, Hyperoxaluria, Recurrent uri...	ORPHA:93598
Mitochondrial Trifunctional Protein Deficiency 1	Myoglobinuria, Elevated circulating creatine kinase concentration, Failure to thrive, Hyperammone...	OMIM:609015
Lethal Congenital Contracture Syndrome 2	Hydronephrosis, Skeletal muscle atrophy, Arthrogryposis multiplex congenita	OMIM:607598
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia, Bicornuate uterus, Proteinuria, Abnormality of the uterus	ORPHA:2143
Cystic Echinococcosis	Abnormality of the diaphragm, Splenic cyst, Hyperbilirubinemia, Peritoneal abscess, Abnormality o...	ORPHA:400
Distal Duplication 6P	Renal hypoplasia, Hydronephrosis, Abnormality of the urinary system	ORPHA:1745
Nail-Patella Syndrome	Abnormality of the kidney, Hematuria, Knee flexion contracture, Arthritis, Knee pain, Elbow flexi...	ORPHA:2614
Townes-Brocks Syndrome	Abnormality of the kidney, Hypospadias, Ectopic kidney, Hypoplasia of penis, Abnormal vagina morp...	ORPHA:857
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia of inadequate production, Unconjugated hyperbilirubinemia, Reticulocytosis, Circulating nu...	OMIM:613673
Tetraploidy	Renal hypoplasia/aplasia, Hydronephrosis	ORPHA:3305
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hydronephrosis, Contracture of the proximal interphalangeal joint of the 5th finger	OMIM:620141
Acute Transverse Myelitis	Distal lower limb muscle weakness, Urinary incontinence, Decreased circulating copper concentrati...	ORPHA:139417
Mantle Cell Lymphoma	Fatigue, Splenomegaly, Weight loss	ORPHA:52416
Thymoma	Aplastic anemia, Chest pain, Prostate neoplasm, Myositis, Rheumatoid arthritis, Pure red cell apl...	ORPHA:99867
Primary Progressive Freezing Gait	Urinary incontinence	ORPHA:75567
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Normochromic anemia, Nephropathy, Focal segmental glomerulosclerosis, Nephrotic s...	OMIM:254900
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Failure to thrive, Urinary incontinence, Hypercalcemia	ORPHA:476126
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Exercise intolerance, Anemia, Renal tubular acidosis, Myoglobinuria, Increa...	ORPHA:264580
Williams-Beuren Syndrome	Recurrent otitis media, Renal insufficiency, Hypercalciuria, Pelvic kidney, Abnormal renal morpho...	OMIM:194050
Suleiman-El-Hattab Syndrome	Failure to thrive, Hydronephrosis, Cryptorchidism	OMIM:618950
Glucose-Galactose Malabsorption	Hematuria, Nephrolithiasis, Hypernatremia, Failure to thrive, Hypercalcemia, Weight loss, Renal i...	ORPHA:35710
Pudendal Neuralgia	Erectile dysfunction, Paroxysmal rectal pain, Neuralgia, Pelvic pain, Pollakisuria, Dysuria, Dysp...	ORPHA:60039
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Hypospadias, Failure to thrive, Congenital posterior urethral valve, Penile hypospadias, Cryptorc...	OMIM:620083
Myoglobinuria, Recurrent	Ragged-red muscle fibers, Exercise-induced myoglobinuria, Recurrent myoglobinuria	OMIM:550500
Trisomy 13	Abnormality of the ureter, Hydronephrosis, Displacement of the urethral meatus, Multiple renal cy...	ORPHA:3378
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Glomerular sclerosis, Normochromic anemia, Skin rash, Proteinuria, Weakness of...	ORPHA:247691
Distal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Hypokalem...	ORPHA:18
Autosomal Recessive Spastic Paraplegia Type 35	Urinary incontinence, Enuresis nocturna, Pollakisuria, Bowel incontinence, Lower limb hypertonia,...	ORPHA:171629
Spinocerebellar Ataxia Type 25	Urinary urgency	ORPHA:101111
Feingold Syndrome Type 1	Abnormality of the kidney, Vesicoureteral reflux, Nephritis, Hydronephrosis, Renal dysplasia, Ren...	ORPHA:391641
Paroxysmal Cold Hemoglobinuria	Autoimmune hemolytic anemia, Back pain, Arthralgia, Coombs-positive hemolytic anemia, Hemoglobinu...	ORPHA:90035
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Hyperammonemia, Failure to thrive, Hydronephrosis, Conjugated hyper...	OMIM:617093
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Recurrent otitis media, Unilateral renal agenesis, Renal hypoplasia, Hydronephrosis, Cryptorchidism	OMIM:618494
Toluene Embryopathy	Cryptorchidism, Hydronephrosis, Abnormal localization of kidney	ORPHA:1920
Acquired Central Diabetes Insipidus	Pollakisuria, Weight loss	ORPHA:95626
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Cachexia, Hip contracture, Failure to thrive in infancy, Facial hypotonia	OMIM:616801
Fabry Disease	Anemia, Urinary mulberry cells, Abdominal pain, Hypohidrosis, Proteinuria, Lipiduria, Left ventri...	OMIM:301500
Isolated Succinate-Coq Reductase Deficiency	Knee flexion contracture, Distal amyotrophy, Vesicoureteral reflux, Skeletal myopathy, Lower limb...	ORPHA:3208
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Abdominal pain, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Unconjugated h...	OMIM:300908
Distal Triplication 15Q	Abnormality of the kidney, Large for gestational age, Polycystic kidney dysplasia, Abnormal exter...	ORPHA:314588
Immunodeficiency 27A	Anemia, Night sweats, Salmonella osteomyelitis, Leukocytosis, Histiocytosis, Hepatosplenomegaly, ...	OMIM:209950
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Failure to thrive, Hydronephrosis, Limb hypertonia	ORPHA:488613
X-Linked Intellectual Disability Due To Gria3 Mutations	Facial hypotonia, Slender build, Hydronephrosis, Abnormality of muscle size, Cryptorchidism, Micr...	ORPHA:364028
Ritscher-Schinzel Syndrome 1	Decreased response to growth hormone stimulation test, Hydronephrosis, Hypospadias	OMIM:220210
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Myoglobinuria, Elevated circulating creatine kinase concentration, Rhabdomyolysis, ...	OMIM:145600
Immunoglobulin A Vasculitis	Glomerulopathy, Hematuria, Arthritis, Skin rash, Abdominal pain, Episcleritis, Pustule, Arthralgi...	ORPHA:761
Arachnoid Cyst	Urinary incontinence, Abdominal pain, Facial palsy, Sciatica, Urinary bladder sphincter dysfuncti...	ORPHA:2356
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis	OMIM:602418
Congenital Disorder Of Glycosylation, Type Iig	Hemolytic-uremic syndrome, Hypospadias, Giant platelets, Anemia, Camptodactyly, Hydronephrosis, T...	OMIM:611209
Hellp Syndrome	Acute kidney injury, Decreased mean corpuscular hemoglobin concentration, Abdominal pain, Increas...	ORPHA:244242
Oculopharyngodistal Myopathy	Abnormality of orbicularis oris muscle, Proximal muscle weakness in upper limbs, Distal lower lim...	ORPHA:98897
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Arthritis, Hyperuricemi...	ORPHA:411536
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Proteinuria, Nephropathy	ORPHA:1765
Distal Limb Deficiencies-Micrognathia Syndrome	Renal hypoplasia, Cryptorchidism, Renal insufficiency, Proteinuria	ORPHA:1307
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Hydronephrosis, Flexion contracture, Micropenis, Small for gestational age	OMIM:616897
Alexander Disease Type I	Cachexia, Failure to thrive	ORPHA:363717
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the kidney, Liver abscess, Anemia, Elevated circulating C-reactive protein concent...	ORPHA:54251
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Muscular dystrophy, Exercise-induced myoglobinuria, Calf muscle hypertrophy, Elevated circulating...	OMIM:607155
Shigellosis	Asthenia, Abnormal blood ion concentration, Myocarditis, Acute kidney injury, Hemolytic-uremic sy...	ORPHA:810
Spondyloenchondrodysplasia	Autoimmune hemolytic anemia, Decreased response to growth hormone stimulation test, Hematuria, Pa...	ORPHA:1855
Avian Influenza	Acute kidney injury, Myelitis, Elevated circulating C-reactive protein concentration, Abdominal p...	ORPHA:454836
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Hypomimic face, Urinary incontinence	ORPHA:247234
Glycogen Storage Disease Ic	Hematuria, Decreased glomerular filtration rate, Chronic pancreatitis, Hyperuricemia, Stomatitis,...	OMIM:232240
Systemic Lupus Erythematosus	Cheilitis, Hematuria, Pyuria, Malar rash, Arthritis, Discoid lupus rash, Malaise, Fatigue, Leukop...	ORPHA:536
Paroxysmal Nocturnal Hemoglobinuria 2	Abdominal pain, Fatigue, Arthralgia, Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia	OMIM:615399
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced myoglobinuria, Dicarboxylic aciduria, Decreased circulating carnitine concentrat...	OMIM:201475
Urachal Cyst	Hematuria, Elevated circulating C-reactive protein concentration, Pyuria, Abdominal pain, Dysuria...	ORPHA:488
Familial Glucocorticoid Deficiency	Renal salt wasting, Hyperkalemia, Azoospermia, Recurrent urinary tract infections, Episodic abdom...	ORPHA:361
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal cyst, Nephritis, Proteinuria, Conjugated hyperbilirubinemia, Chronic kidney disease, Renal ...	OMIM:208500
Craniosynostosis, Herrmann-Opitz Type	Abnormality of the upper urinary tract, Abnormality of the urethra	ORPHA:2145
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Acute leukemia, Rhabdomyosarcoma, Cachexia, Pollakisuria, Recurrent ...	ORPHA:647
Metachromatic Leukodystrophy, Adult Form	Urinary incontinence, Cholecystitis, Bowel incontinence	ORPHA:309271
Stevens-Johnson Syndrome	Pancreatitis, Anemia, Abdominal pain, Dysuria, Dyspareunia, Fatigue, Thrombocytopenia, Weight los...	ORPHA:36426
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Crohn's disease, Acute pancreatitis, Lymphadenitis, Eczematoid dermatitis, Neph...	OMIM:618935
Townes-Brocks Syndrome 1	Hypospadias, Rectovaginal fistula, Renal insufficiency, Vesicoureteral reflux, Bifid scrotum, Rec...	OMIM:107480
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Pancreatitis, Hypokalemia, Acute colitis, Abdominal pain, Anuria, Leukocytos...	ORPHA:90038
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Renal artery stenosis, Proteinuria, Nephropathy	OMIM:209010
Hemochromatosis, Type 3	Anemia, Arthritis, Impotence, Fatigue, Increased circulating iron concentration, Lymphopenia, Ele...	OMIM:604250
Al-Gazali Syndrome	Recurrent pneumonia, Wrist flexion contracture, Hydronephrosis, Failure to thrive	OMIM:609465
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urinary incontinence, Hypospadias, Pelvic kidney, Imperforate hymen, Grade III vesicoureteral ref...	OMIM:619522
Kleefstra Syndrome	Chronic otitis media, Hypospadias, Hypoplasia of penis, Vesicoureteral reflux, Renal cyst, Crypto...	ORPHA:261494
Noonan Syndrome 4	Large for gestational age, Ureteral duplication, Hydronephrosis, Thrombocytopenia, Cryptorchidism	OMIM:610733
Camurati-Engelmann Disease	Anemia, Bone pain, Cachexia, Facial palsy, Slender build, Leukopenia, Splenomegaly, Skeletal musc...	ORPHA:1328
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia, Hyperhidrosis, Elevated urinary norepinephrine level, Proteinuria	OMIM:171420
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydronephrosis, Hydroureter, Fetal megacystis	OMIM:619362
Mirage Syndrome	Hyperkalemia, Anemia, Hypospadias, Recurrent urinary tract infections, Decreased body weight, Asp...	OMIM:617053
Toxic Epidermal Necrolysis	Pancreatitis, Neutropenia, Anemia, Abnormal vagina morphology, Abdominal pain, Dysuria, Fatigue, ...	ORPHA:537
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis	ORPHA:73246
Eosinophilic Fasciitis	Myositis, Arthritis, Abnormal eosinophil morphology, Muscular edema, Fatigue, Arthralgia, Weight ...	ORPHA:3165
Fliedner-Zweier Syndrome	Obesity, Hydronephrosis, Multicystic kidney dysplasia, Unilateral renal agenesis	OMIM:620511
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Hydronephrosis, Urethral atresia	OMIM:314390
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Abnormal circulating lipid concentration, Cachexia, Flexion contracture, Weight loss, Hyperlipopr...	ORPHA:1979
9Q21.13 Microdeletion Syndrome	Hydronephrosis, Cryptorchidism	ORPHA:531151
Kury-Isidor Syndrome	Hydronephrosis, Recurrent otitis media	OMIM:619762
Martin-Probst Syndrome	Pancytopenia, Renal insufficiency, Bifid scrotum, Hypothyroidism, Chordee, Proteinuria, Cryptorch...	OMIM:300519
Trisomy 1Q	Congenital diaphragmatic hernia, Congenital megaureter, Camptodactyly of finger, Hydronephrosis, ...	ORPHA:261344
Reticular Dysgenesis	Chronic otitis media, Anemia, Skin rash, Failure to thrive, Leukopenia, Weight loss, Abnormality ...	ORPHA:33355
Tetrasomy 15Q26	Hydronephrosis, Horseshoe kidney, Camptodactyly	OMIM:614846
Congenital Disorder Of Glycosylation, Type Ia	Premature ovarian insufficiency, Proximal tubulopathy, Renal cyst, Hypergonadotropic hypogonadism...	OMIM:212065
Cronkhite-Canada Syndrome	Anemia, Cachexia, Abdominal pain, Fatigue, Splenomegaly	ORPHA:2930
Desmoplastic Small Round Cell Tumor	Ovarian neoplasm, Anemia, Testicular neoplasm, Cachexia, Abdominal pain, Weight loss	ORPHA:83469
ERI1-related disease	Hip pain, Vesicoureteral reflux, Decreased body weight, Failure to thrive, Hydronephrosis, Small ...	OMIM:608739
Zellweger Syndrome	Clitoral hypertrophy, Hypospadias, Failure to thrive, Primary adrenal insufficiency, Hydronephros...	ORPHA:912
Glycogen Storage Disease Xii	Muscle fiber splitting, Normocytic anemia, Reduced haptoglobin level, Decreased erythrocyte fruct...	OMIM:611881
Systemic Sclerosis	Myocarditis, Acute kidney injury, Abnormality of the kidney, Arthritis, Elevated circulating crea...	ORPHA:90291
Hand-Foot-Genital Syndrome	Hypospadias, Recurrent urinary tract infections, Vesicoureteral reflux, Bicornuate uterus, Ureter...	ORPHA:2438
Spastic Paraplegia 30, Autosomal Dominant	Urinary bladder sphincter dysfunction	OMIM:610357
Neuropathy, Congenital Hypomyelinating, 3	Hypomimic face, Cachexia, Facial diplegia, Limb joint contracture, Flexion contracture, Arthrogry...	OMIM:618186
Pseudoleprechaunism Syndrome, Patterson Type	Bladder diverticulum	ORPHA:2976
Schwartz-Jampel Syndrome	Flexion contracture of toe, Shoulder flexion contracture, Cachexia, Skeletal muscle hypertrophy, ...	ORPHA:800
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Skeletal muscle atrophy, Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia, Limb muscle weakness	OMIM:612300
Castleman Disease	Hematuria, Anemia, Elevated circulating C-reactive protein concentration, Abdominal pain, Flank p...	ORPHA:160
Flynn-Aird Syndrome	Cachexia, Primary adrenal insufficiency, Skeletal muscle atrophy	ORPHA:2047
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hyperbilirubinemia, Hemoglobinuria, Hemolytic anemia, Reticulocytosis	OMIM:266120
Leishmaniasis	Anemia, Night sweats, Pancytopenia, Abnormal macrophage morphology, Fatigue, Rhinitis, Leukopenia...	ORPHA:507
Fatal Familial Insomnia	Hyperhidrosis, Urinary retention, Weight loss	OMIM:600072
Microcephaly 26, Primary, Autosomal Dominant	Recurrent pneumonia, Hydronephrosis, Failure to thrive	OMIM:619179
Infantile Nephropathic Cystinosis	Low-molecular-weight proteinuria, Abnormality of thyroid physiology, Hypokalemia, Glycosuria, Hyp...	ORPHA:411629
Polyarteritis Nodosa	Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Abdominal pain,...	ORPHA:767
Nephroblastoma	Nephroblastoma, Abdominal pain, Hematuria, Weight loss	ORPHA:654
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Clitoral hypertrophy, Hydroureter, Rectovaginal fistula, Labial hypoplasia, Pelvic kidney, Vesico...	OMIM:300707
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Anemia, Vesicoureteral reflux, Renal cyst, Renal hypoplasia, Failure to thr...	OMIM:618460
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Increased mean corpuscular hemoglobin concentration, Increased red cell hemolysis by shear stress...	OMIM:194380
Multiple Myeloma	Acute kidney injury, Anemia, Abnormality of the bladder, Bone pain, Fatigue, Nephrotic syndrome, ...	ORPHA:29073
Trisomy 18	Congenital diaphragmatic hernia, Cachexia, Abnormality of the upper urinary tract, Camptodactyly ...	ORPHA:3380
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Cachexia, Elbow flexion contracture, EMG: myopathic abnormalities, Hip ...	ORPHA:371364
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Congenital diaphragmatic hernia, Large for gestational age, Ureteral duplication, Vesicoureteral ...	OMIM:614080
Pgm3-Cdg	Chronic otitis media, Decreased proportion of CD3-positive T cells, T lymphocytopenia, Leukopenia...	ORPHA:443811
Felty Syndrome	Chronic otitis media, Anemia, Recurrent urinary tract infections, Arthritis, Abnormal lymphocyte ...	ORPHA:47612
Immunodeficiency 18	Recurrent otitis media, Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, ...	OMIM:615615
Zygomycosis	Acute infectious pneumonia, Sinusitis, Pericarditis, Pustule, Neutropenia, Myocarditis, Abdominal...	ORPHA:73263
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Hydronephrosis, Limb joint contracture, Limb hypertonia, Cryptorchidism	OMIM:620327
Epilepsy, Progressive Myoclonic, 10	Urinary incontinence	OMIM:616640
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Myoglobinuria, Elevated c...	OMIM:620300
Wolman Disease	Anemia, Cachexia, Bone-marrow foam cells, Splenomegaly, Adrenal insufficiency	ORPHA:75233
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Recurrent otitis media, Splenomegaly, Lymphopenia, Autoimmune thromb...	ORPHA:444463
Ohdo Syndrome	Small scrotum, Cryptorchidism, Proteinuria	OMIM:249620
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Hyperbilirubinemia, Mild proteinuria, Increased serum bile acid concentration, Bilateral cryptorc...	OMIM:619685
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria, Rhabdomyolysis	OMIM:602199
Koolen-De Vries Syndrome	Ureteral duplication, Hypospadias, Vesicoureteral reflux, Hypothyroidism, Renal duplication, Hydr...	ORPHA:96169
Pure Mitochondrial Myopathy	Exercise intolerance, Recurrent myoglobinuria, Scapular winging, Rhabdomyolysis, Proximal amyotro...	ORPHA:254854
Congenital Disorder Of Glycosylation, Type Iiaa	Unilateral renal agenesis, Hyperammonemia, Hydronephrosis, Knee flexion contracture, Hypercholest...	OMIM:620454
Metachromatic Leukodystrophy	Limb pain, Urinary incontinence, Impaired continence, Pain, Bowel incontinence	ORPHA:512
Alveolar Echinococcosis	Asthenia, Chest pain, Liver abscess, Anemia, Cholangitis, Abnormality of the diaphragm, Abdominal...	ORPHA:284
Amyotrophic Lateral Sclerosis	Progressive spinal muscular atrophy, Progressive distal muscular atrophy, Cachexia, Upper limb mu...	ORPHA:803
Cutis Laxa, Autosomal Recessive, Type Ia	Congenital diaphragmatic hernia, Bladder diverticulum	OMIM:219100
Oeis Complex	Epispadias, Ambiguous genitalia, male, Hydroureter, Duplicated collecting system, Vesicovaginal f...	OMIM:258040
Autosomal Dominant Spastic Paraplegia Type 41	Urinary urgency	ORPHA:320355
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anemia, Hypokalemia, Hypocalcemia, Cachexia, Abdominal pain, Hypomagnesemia, Xerostomia	OMIM:175500
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Duplicated collecting system, Esophagitis, Hydronephrosis, Hepatosplenomegaly, Decreased serum zinc	ORPHA:541423
Musculocontractural Ehlers-Danlos Syndrome	Nephrolithiasis, Cryptorchidism, Functional abnormality of the bladder, Hydronephrosis, Decreased...	ORPHA:2953
Marden-Walker Syndrome	Epispadias, Abnormality of the kidney, Muscular dystrophy, Renal hypoplasia/aplasia, Hydroureter,...	ORPHA:2461
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Abnormal fallopian tube morphology, Hypocalcemia, Abnormal renal morphology, Hypoproteinemia, Hyd...	ORPHA:1655
Arnold-Chiari Malformation Type I	Abnormality of the musculature of the lower limbs, Urinary incontinence, Neck pain	ORPHA:268882
Neuromyelitis Optica Spectrum Disorder	Functional abnormality of the bladder	ORPHA:71211
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Decreased serum cr...	OMIM:300539
Czeizel-Losonci Syndrome	Congenital megaureter, Aplasia of the left hemidiaphragm, Ureteral agenesis, Hydronephrosis, Post...	ORPHA:2437
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Abnormal T cell morphology, Hypouricemia, Decreased proportion of CD...	ORPHA:760
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2715
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent urinary tract infections, Leukopenia, Splenomegaly, Lymphopenia, Recurrent skin infections	OMIM:620210
Nail-Patella Syndrome	Hematuria, Quadriceps aplasia, Biceps aplasia, Nephrotic syndrome, Back pain, Absence of pectoral...	OMIM:161200
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormality of the kidney, Anemia, Hypoplasia of penis, Recurrent urinary tract infections, Male ...	ORPHA:847
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Hypokalemia, Hypocalcemia, Renal artery stenosis, Renal hypoplasia, Hyponatremia, Nep...	OMIM:617913
Adrenocortical Carcinoma	Elevated serum 11-deoxycortisol, Hypokalemia, Abdominal pain, Abnormality of reproductive system ...	ORPHA:1501
Meningioma	Urinary incontinence, Ear pain, Reduced circulating prolactin concentration, Trigeminal neuralgia...	ORPHA:2495
Carey-Fineman-Ziter Syndrome	Aplasia of the pectoralis major muscle, Glandular hypospadias, Facial palsy, Hydronephrosis, Skel...	ORPHA:1358
Acquired Generalized Lipodystrophy	Abnormal circulating lipid concentration, Hypertriglyceridemia, Panniculitis, Calf muscle pseudoh...	ORPHA:79086
Thymic Neuroendocrine Tumor	Pancreatic islet cell adenoma, Primary hyperparathyroidism, Calcium nephrolithiasis, Hypercalcemi...	ORPHA:97289
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Skin...	OMIM:619924
Microphthalmia, Lenz Type	Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Camptodactyly of finger, Hydronephrosis, Cryp...	ORPHA:568
Systemic Lupus Erythematosus 17	Myelitis, Malar rash, Optic neuritis, Leukopenia, Thrombocytopenia, Arthralgia, Lymphopenia, Auto...	OMIM:301080
Senior-Loken Syndrome 3	Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts	OMIM:606995
Chromosome 2P16.1-P15 Deletion Syndrome	Camptodactyly, Decreased testicular size, Hydronephrosis, Hypogonadism, Cryptorchidism, Micropeni...	OMIM:612513
Bardet-Biedl Syndrome 20	Pancreatitis, Bilateral cryptorchidism, Obesity, Proteinuria, Micropenis, Male hypogonadism, Hype...	OMIM:619471
Carpenter Syndrome 1	External genital hypoplasia, Hydroureter, Camptodactyly, Precocious puberty, Obesity, Hydronephro...	OMIM:201000
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Anemia, Nephrotic syndrome, Leukopenia, Proteinuria, Hepatosplenomegaly, Conjunc...	ORPHA:505248
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Enuresis	OMIM:613670
Acute Adrenal Insufficiency	Renal salt wasting, Hyperkalemia, Normocytic anemia, Hyperuricemia, Decreased female libido, Abdo...	ORPHA:95409
Pfapa Syndrome	Arthritis, Abdominal pain, Fatigue, Arthralgia, Splenomegaly, Weight loss, Infectious encephalitis	ORPHA:42642
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy	Urinary urgency	ORPHA:314603
Tetrasomy 12P	Hypohidrosis, Cachexia	ORPHA:884
Micro Syndrome	Hypoplasia of penis, Hypoplastic labia minora, Clitoral hypoplasia, Hydronephrosis, Abnormal loca...	ORPHA:2510
Galloway-Mowat Syndrome 3	Glomerular sclerosis, Camptodactyly, Nephrotic syndrome, Failure to thrive, Diffuse mesangial scl...	OMIM:617729
X-Linked Agammaglobulinemia	Chronic otitis media, Anemia, Hypocalcemia, Arthritis, Skin rash, Fatigue, Sinusitis, Failure to ...	ORPHA:47
Galloway-Mowat Syndrome	Nephrotic syndrome, Camptodactyly of finger, Nephropathy, Proteinuria	ORPHA:2065
Microphthalmia, Syndromic 9	Congenital diaphragmatic hernia, Multilobulated spleen, Pelvic kidney, Bicornuate uterus, Cryptor...	OMIM:601186
Wilson Disease	Splenomegaly, High nonceruloplasmin-bound serum copper, Decreased circulating ceruloplasmin conce...	OMIM:277900
Mckusick-Kaufman Syndrome	Transverse vaginal septum, Hydrometrocolpos, Hydroureter, Rectovaginal fistula, Vesicovaginal fis...	OMIM:236700
Autosomal Recessive Spastic Paraplegia Type 20	Distal amyotrophy, Dysuria, Upper limb muscle weakness, Hydronephrosis, Skeletal muscle atrophy	ORPHA:101000
Peroxisome Biogenesis Disorder 1A (Zellweger)	Clitoral hypertrophy, Hypospadias, Elevated circulating long chain fatty acid concentration, Cryp...	OMIM:214100
Proximal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Hypokalemia, Hyper...	ORPHA:47159
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Microscopic hematuria, Elliptocytosis, Proteinuria, Renal insufficiency	ORPHA:86818
Focal Myositis	Myositis, Myalgia, Elevated circulating creatine kinase concentration, Weight loss	ORPHA:48918
Acro-Renal-Ocular Syndrome	Renal hypoplasia/aplasia, Vesicoureteral reflux, Bladder diverticulum, Crossed fused renal ectopi...	ORPHA:959
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent otitis media, B lymphocytopenia, T lymphocytopenia, Sinusitis, Failure to thrive, Recur...	ORPHA:277
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Periodontitis, Precocious puberty, Obesity, Hydronephrosis, Moderate albuminuria	OMIM:619269
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Stage 5 chronic kidney disease, Proteinuria	OMIM:219900
Hyperuricemia, Hprt-Related	Podagra, Hyperuricemia, Renal insufficiency, Nephrolithiasis, Hyperuricosuria	OMIM:300323
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Transverse vaginal septum, Decreased response to growth hormone stimulation test, Hydroureter, Du...	OMIM:129900
Relapsing Polychondritis	Myocarditis, Glomerulopathy, Hematuria, Recurrent aphthous stomatitis, Inflammatory abnormality o...	ORPHA:728
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Decreased circulating carnitine concentration, Myoglobinuria, Abnormal cir...	ORPHA:71212
Melnick-Needles Syndrome	Hydronephrosis, Vesicoureteral reflux	ORPHA:2484
Floating-Harbor Syndrome	Hypospadias, Polycystic kidney dysplasia, Renal cyst, Cryptorchidism, Renal agenesis, Varicocele,...	ORPHA:2044
Congenital Disorder Of Glycosylation, Type It	Exercise intolerance, Recurrent otitis media, Elevated circulating creatine kinase concentration,...	OMIM:614921
Zaki Syndrome	Renal agenesis, Hydronephrosis, Congenital diaphragmatic hernia	OMIM:619648
Thyrotoxic Periodic Paralysis	Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Transient hypophosphatemia, Thyrot...	ORPHA:79102
Chondrodysplasia Punctata 2, X-Linked Dominant	Failure to thrive, Hydronephrosis, Elevated 8(9)-cholestenol, Erythroderma, Elevated 8-dehydrocho...	OMIM:302960
Genitopatellar Syndrome	Clitoral hypertrophy, Cryptorchidism, Hip contracture, Hydronephrosis, Knee flexion contracture, ...	ORPHA:85201
Baller-Gerold Syndrome	Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney...	ORPHA:1225
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ectopic kidney, Vesicoureteral reflux, Camptodactyly, Erysipelas, Hydronephrosis, Hypoalbuminemia...	OMIM:235510
Penile Agenesis	Hydroureter, Abnormality of the bladder, Bilateral renal agenesis, Absent penis, Hydronephrosis, ...	ORPHA:49
Basel-Vanagaite-Smirin-Yosef Syndrome	Recurrent pneumonia, Clitoral hypertrophy, Hydronephrosis, Hypospadias	OMIM:616449
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypocalcemia, Hypoproteinemia, Hydronephrosis, Splenomegaly, Cryptorchidism, Micropenis	OMIM:235255
Trisomy 20P	Abnormality of the kidney, Hypospadias, Abnormality of the ureter, Camptodactyly of finger, Hydro...	ORPHA:261318
Mesomelia-Synostoses Syndrome	Hydronephrosis	ORPHA:2496
Mosaic Trisomy 8	Vesicoureteral reflux, Cryptorchidism, Decreased testicular size, Camptodactyly of finger, Hydron...	ORPHA:96061
Koolen-De Vries Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Eczematoid dermatitis, Failure to thri...	OMIM:610443
Parathyroid Carcinoma	Mandibular pain, Pancreatitis, Hypercalciuria, Testicular neoplasm, Bone pain, Renal hamartoma, N...	ORPHA:143
Takenouchi-Kosaki Syndrome	Unilateral renal agenesis, Hypospadias, Camptodactyly, Increased mean platelet volume, Hydronephr...	OMIM:616737
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Asthenia, Macrocytic anemia, Hyperhomocystinemia, Pancytopenia, Hypersegmentation of neutrophil n...	OMIM:617780
Wagro Syndrome	Hypoplastic female external genitalia, Decreased testicular size, Obesity, Proteinuria, Nephrobla...	OMIM:612469
Laryngeal Neuroendocrine Tumor	Elevated circulating carcinoembryonic antigen concentration, Adrenocorticotropic hormone excess, ...	ORPHA:100083
Spastic Paraplegia 80, Autosomal Dominant	Urinary urgency	OMIM:618418
Eec Syndrome	Decreased response to growth hormone stimulation test, Renal hypoplasia/aplasia, Hypospadias, Ant...	ORPHA:1896
Arima Syndrome	Polyuria, Nephronophthisis, Hematuria, Anemia, Tubulointerstitial fibrosis, Polycystic kidney dys...	OMIM:243910
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Urinary incontinence	ORPHA:314404
Macrocephaly/Autism Syndrome	Large for gestational age, Recurrent otitis media, Obesity, Splenomegaly, Lymphopenia, Penile fre...	OMIM:605309
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Weight loss	ORPHA:411593
Liposarcoma	Abnormality of the kidney, Fatigue, Weight loss, Abdominal pain	ORPHA:69078
African Trypanosomiasis	Myocarditis, Urinary incontinence, Iritis, Myelitis, Optic neuritis, Infertility, Impotence, Abno...	ORPHA:3385
Bladder Exstrophy	Epispadias, Abnormal clitoris morphology, Hypoplasia of penis, Recurrent urinary tract infections...	ORPHA:93930
Aggressive Systemic Mastocytosis	Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Bone pain, Leukemia, Abdominal pa...	ORPHA:98850
Cutis Laxa, Autosomal Recessive, Type Ic	Multiple bladder diverticula, Accessory spleen, Morgagni diaphragmatic hernia, Hypoplasia of the ...	OMIM:613177
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Acute kidney injury, Acute rhabdomyolysis, Abnormality of masseter muscle, Necrotiz...	ORPHA:423
Behçet Disease	Optic neuritis, Pericarditis, Splenomegaly, Gangrene, Recurrent aphthous stomatitis, Abdominal pa...	ORPHA:117
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Rhabdomyosarcoma, Recurrent otitis media, Premature ovarian insuffic...	OMIM:251260
Fryns Syndrome	Congenital diaphragmatic hernia, Hypospadias, Vesicoureteral reflux, Bicornuate uterus, Hydroneph...	ORPHA:2059
Pearson Syndrome	Reticulocytosis, Hypophosphatemia, Splenomegaly, Neutropenia, Adrenal insufficiency, Lacticacidur...	ORPHA:699
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Increased erythrocyte protoporphyrin concentration, Anemia, Hypochromic microcytic anemia, Howell...	OMIM:301310
Duane-Radial Ray Syndrome	Pectoralis hypoplasia, Vesicoureteral reflux, Facial palsy, Small thenar eminence, Renal agenesis...	OMIM:607323
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Acute rhabdomyolysis, Premature pubarche, Myoglobinuria, Elevated circulating creatine kinase con...	OMIM:616878
Congenital Myopathy 17	Renal hypoplasia, Hydronephrosis, Ureteropelvic junction obstruction, Distal arthrogryposis, Diap...	OMIM:618975
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia, Bicornuate uterus, Non-acidotic proximal tubulopathy, Proteinuri...	OMIM:222448
Takayasu Arteritis	Anemia, Inflammatory abnormality of the eye, Arthritis, Fatigue, Hyperhidrosis, Arthralgia, Weigh...	ORPHA:3287
Pfeiffer Syndrome Type 3	Hydronephrosis, Horseshoe kidney, Vesicoureteral reflux	ORPHA:93260
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Limb pain, Hematuria, Proteinuria	OMIM:192315
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Hydronephrosis, Cryptorchidism	ORPHA:457193
Adnp Syndrome	Recurrent urinary tract infections, Urinary incontinence, Truncal obesity, Cryptorchidism	ORPHA:404448
Mosaic Trisomy 9	Hypoplastic female external genitalia, Abnormal fallopian tube morphology, Hypoplasia of penis, A...	ORPHA:99776
Pheochromocytoma	Elevated urinary norepinephrine level, Renal artery stenosis, Hyperhidrosis, Hypercalcemia, Prote...	OMIM:171300
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	HbH hemoglobin, Hypochromic microcytic anemia, Hypospadias, Reduced alpha/beta synthesis ratio, C...	OMIM:301040
Occipital Horn Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Ur...	OMIM:304150
Melas	Exercise intolerance, Anemia, Hypoparathyroidism, Ragged-red muscle fibers, Proximal tubulopathy,...	ORPHA:550
Fabry Disease	Abnormal renal tubule morphology, Abnormal circulating lipid concentration, Glomerulopathy, Hemat...	ORPHA:324
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Elevated circulating deoxyuridine concentration, Cachexia, Ragged-red muscle fibers, Distal amyot...	OMIM:603041
1Q21.1 Microdeletion Syndrome	Failure to thrive, Cryptorchidism, Hydronephrosis, Vesicoureteral reflux	ORPHA:250989
Oculoauriculovertebral Spectrum With Radial Defects	Renal hypoplasia/aplasia, Vesicoureteral reflux, EMG: myopathic abnormalities, Distal urethral du...	ORPHA:2549
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Pneumonia, Ectopic kidney, Hypospadias, Abnormal renal morpholog...	OMIM:122470
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Bladder diverticulum, Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio, Recur...	OMIM:225400
3C Syndrome	Hydronephrosis, Hypospadias, Hypoplasia of penis	ORPHA:7
X-Linked Dominant Chondrodysplasia Punctata	Erythroderma, Hydronephrosis, Flexion contracture	ORPHA:35173
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Urinary incontinence, Aspiration pneumonia	OMIM:619482
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Myoglobinuria, Dicarboxylic aciduria	OMIM:231530
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia, Failure to thrive, Skeletal muscle atrophy, Patent urachus, Small for gestational age	OMIM:618252
Immunodeficiency 76	B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Splenomegaly, Lymphopenia, Colitis	OMIM:619164
Agel Amyloidosis	Xerostomia, Facial palsy, Abnormal spleen morphology, Proteinuria, Stage 5 chronic kidney disease...	ORPHA:85448
Floating-Harbor Syndrome	Recurrent otitis media, Hypospadias, Glandular hypospadias, Atopic dermatitis, Varicocele, Nephro...	OMIM:136140
Intellectual Disability, Buenos-Aires Type	Hydronephrosis	ORPHA:3079
Marburg Hemorrhagic Fever	Skin rash, Reticulocytosis, Pericarditis, Hyperammonemia, Chills, Leukopenia, Lymphopenia, Elevat...	ORPHA:99826
Intellectual Developmental Disorder, Autosomal Dominant 68	Urinary incontinence, Joint contracture of the 5th finger	OMIM:619934
Chronic Hiccup	Abnormality of the diaphragm, Recurrent singultus, Weight loss	ORPHA:396
Neuroblastoma	Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Anemia, Elevated ur...	ORPHA:635
2P15P16.1 Microdeletion Syndrome	Facial palsy, Decreased testicular size, Camptodactyly of finger, Failure to thrive, Hydronephros...	ORPHA:261349
Refractory Celiac Disease	Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Abdominal pain, Hypop...	ORPHA:398063
Encephalocraniocutaneous Lipomatosis	Pelvic kidney, Hydronephrosis, Cryptorchidism	OMIM:613001
Isolated Permanent Neonatal Diabetes Mellitus	Lower-limb joint contracture, Abnormality of the upper urinary tract, Glycosuria, Failure to thri...	ORPHA:99885
Immunodeficiency 13	Recurrent otitis media, B lymphocytopenia, T lymphocytopenia, Recurrent sinusitis, Recurrent pneu...	OMIM:615518
Wilson Disease	Anemia, Acute hepatitis, Arthritis, Bone pain, Increased body weight, Failure to thrive, Back pai...	ORPHA:905
Hoxha-Aliu Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Hydronephrosis, Vesicoureter...	OMIM:620662
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Aplasia of the uterus, Hydronephrosis, Urethral atresia, Absent external g...	OMIM:271520
Infection-Related Hemolytic Uremic Syndrome	Myocarditis, Acute kidney injury, Pneumonia, Hyperkalemia, Pancreatitis, Acute colitis, Hypocalce...	ORPHA:544482
Immunodeficiency 23	Chronic mucocutaneous candidiasis, Bronchiectasis, Eczematoid dermatitis, Failure to thrive, Hemo...	OMIM:615816
Beta-Ketothiolase Deficiency	Hyperuricemia, Leukocytosis, Hyperammonemia, Weight loss, Body odor, Thrombocytosis, Ketonuria	ORPHA:134
3-Hydroxy-3-Methylglutaric Aciduria	Anemia, Hyperuricemia, Acute pancreatitis, Leukocytosis, Fatigue, Hyperammonemia, 3-Methylglutari...	ORPHA:20
Osteopetrosis With Renal Tubular Acidosis	Anemia, Renal tubular acidosis, Hypocalcemia, Pancytopenia, Nephrolithiasis, Elevated circulating...	ORPHA:2785
Lymphoid Interstitial Pneumonia	Enlarged kidney, Skin rash, Fatigue, Eczematoid dermatitis, Rheumatoid arthritis, Failure to thri...	ORPHA:79128
Bladder Exstrophy And Epispadias Complex	Epispadias, Bifid clitoris, Hydroureter, Unilateral renal agenesis, Bladder exstrophy, Horseshoe ...	OMIM:600057
Immunodeficiency 21	Aplastic anemia, Cervical intraepithelial neoplasia, Anemia, Neutropenia, B lymphocytopenia, Lymp...	OMIM:614172
Autosomal Dominant Spastic Paraplegia Type 37	Urinary urgency	ORPHA:171612
Polymyositis	Abnormal renal tubule morphology, Arthritis, Abdominal pain, Elevated circulating creatine kinase...	ORPHA:732
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Urinary incontinence, Multiple joint contractures	ORPHA:447997
Q Fever	Myocarditis, Hematuria, Anemia, Night sweats, Myalgia, Fatigue, Hepatitis, Granuloma, Pericarditi...	ORPHA:781
Branchio-Oculo-Facial Syndrome	Renal agenesis, Hydronephrosis, Multicystic kidney dysplasia	ORPHA:1297
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormal bladder morphology, Vesicoureteral reflux, Cryptorchidism, Hypothyroidism, Failure to th...	ORPHA:453499
Addison Disease	Decreased circulating cortisol level, Decreased female libido, Thiamine-responsive megaloblastic ...	ORPHA:85138
8P Inverted Duplication/Deletion Syndrome	Cryptorchidism, Precocious puberty, Hydronephrosis, Micropenis, Small hypothenar eminence, Contra...	ORPHA:96092
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hyperhidrosis, Fatigue, Splenomegaly, Weight loss	ORPHA:86893
Pallister-Hall Syndrome	Decreased response to growth hormone stimulation test, Hydroureter, Ectopic kidney, Panhypopituit...	OMIM:146510
Galloway-Mowat Syndrome 1	Focal segmental glomerulosclerosis, Camptodactyly, Nephrotic syndrome, Proteinuria, Hypoalbuminem...	OMIM:251300
Lujo Hemorrhagic Fever	Myocarditis, Elevated circulating C-reactive protein concentration, Skin rash, Fulminant hepatiti...	ORPHA:319213
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Unilateral renal agenesis, Hypospadias, Pelvic kidney, Renal cyst, Fai...	ORPHA:464311
Diphallia	Penoscrotal transposition, Epispadias, Ureteral duplication, Bifid penis, Hypospadias, Ectopic sc...	ORPHA:227
Vater/Vacterl Association	Ectopic kidney, Hypospadias, Vesicoureteral reflux, Renal agenesis, Failure to thrive, Ureteropel...	OMIM:192350
Frontometaphyseal Dysplasia 1	Ankle flexion contracture, Hydroureter, Hypoplasia of the musculature, Elbow flexion contracture,...	OMIM:305620
Classic Hodgkin Lymphoma	Bone pain, Skin rash, Fatigue, Hyperhidrosis, Splenomegaly, Weight loss, Chest pain	ORPHA:391
Caroli Disease	Liver abscess, Cholangitis, Abdominal rigidity, Polycystic kidney dysplasia, Abdominal pain, Leuk...	ORPHA:53035
Oculocerebrorenal Syndrome Of Lowe	Chronic otitis media, Cheilitis, Nephrocalcinosis, Multiple renal cysts, Hypophosphatemia, Hypera...	ORPHA:534
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Pelvic kidney, Vesicoureteral reflux, Obesity, Hydronephrosis, Cryptorchidism, Micropenis	OMIM:618653
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Type 1 muscle fiber predominance, Bladder diverticulum, Myopathy, Skeletal muscle atrophy	OMIM:614557
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Aplasia of the thymus, B...	OMIM:102700
Acute Myelomonocytic Leukemia	Anemia, Leukocytosis, Thrombocytopenia, Weight loss, Eosinophilia	ORPHA:517
Tarp Syndrome	Failure to thrive, Hydronephrosis, Horseshoe kidney	OMIM:311900
Eosinophilic Gastroenteritis	Anemia, Elevated circulating C-reactive protein concentration, Abdominal pain, Leukocytosis, Atop...	ORPHA:2070
Kabuki Syndrome	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Hypospadias, Duplicated collecting sys...	ORPHA:2322
Kufor-Rakeb Syndrome	Hypomimic face, Urinary incontinence, Fatigue, Bowel incontinence, Leg muscle stiffness	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	Neck pain, Hyperhidrosis, Leukopenia, Splenomegaly, Chills, Erythema nodosum, Cholecystitis, Adre...	ORPHA:99827
Lumbar Syndrome	Hypospadias, Vesicoureteral reflux, Bifid scrotum, Renal agenesis, Renal duplication, Bifid uteru...	ORPHA:83628
Idiopathic Chronic Eosinophilic Pneumonia	Asthenia, Night sweats, Elevated circulating C-reactive protein concentration, Leukocytosis, Atop...	ORPHA:2902
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Diastasis recti, Wrist flexion contracture, Camptodactyly, Hydronephrosis, Flexion contracture of...	ORPHA:254528
Laryngotracheoesophageal Cleft Type 4	Cachexia, Abnormality of the spleen	ORPHA:93941
Giant Cell Arteritis	Hematuria, Arthritis, Abdominal pain, Fatigue, Pericarditis, Hyperhidrosis, Arthralgia, Sudden ca...	ORPHA:397
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Clitoral hypertrophy, Abnormal ovarian physiology, Precocious puberty in females, Elevated urinar...	ORPHA:90794
Dyrk1A-Related Intellectual Disability Syndrome	Unilateral renal agenesis, Hypospadias, Pelvic kidney, Renal cyst, Eczematoid dermatitis, Cryptor...	ORPHA:464306
Neurodegeneration With Brain Iron Accumulation 1	Decreased muscle mass, Urinary incontinence, Acanthocytosis, Myopathy	OMIM:234200
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Hypospadias, Hypocalcemia, Hyperbilirubinemia, Hydronephrosis, Thrombocytopenia, Cryptorc...	ORPHA:163979
Deafness-Lymphedema-Leukemia Syndrome	Chronic otitis media, Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leu...	ORPHA:3226
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Arthritis, Lymphopenia	ORPHA:2582
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Primary hypothyroidism, Thyroiditis, Chronic mucocutaneous candidias...	ORPHA:391487
Pelvis-Shoulder Dysplasia	Camptodactyly of finger, Hydronephrosis, Ambiguous genitalia	ORPHA:2839
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Anemia, Elevated circulating C-reactive protein concentration, Bone pain, Arthritis, Skin rash, F...	ORPHA:324964
Kawasaki Disease	Myocarditis, Cheilitis, Elevated circulating C-reactive protein concentration, Arthritis, Skin ra...	ORPHA:2331
Immunodeficiency 85 And Autoimmunity	T lymphocytopenia, Eczematoid dermatitis, Decreased proportion of memory B cells, Decreased propo...	OMIM:619510
Inflammatory Bowel Disease (Crohn Disease) 1	Recurrent aphthous stomatitis, Crohn's disease, Abdominal pain, Inflammation of the large intesti...	OMIM:266600
Erythrokeratodermia Variabilis	Skin rash, Abnormal testis morphology, Weight loss	ORPHA:317
Developmental Delay With Or Without Dysmorphic Facies And Autism	Congenital diaphragmatic hernia, Vesicoureteral reflux, Renal cyst, Microphallus, Renal hypoplasi...	OMIM:618454
Menkes Disease	Fatigue, Bladder diverticulum, Osteomyelitis, Aplasia/Hypoplasia of the abdominal wall musculature	ORPHA:565
Isaacs Syndrome	Calf muscle hypertrophy, Hyperhidrosis, Weight loss	ORPHA:84142
Okamoto Syndrome	Urinary incontinence, Ureteropelvic junction obstruction, Hydronephrosis, Splenomegaly, Bifid ute...	ORPHA:2729
Amelogenesis Imperfecta, Type Ig	Polyuria, Impaired renal concentrating ability, Enuresis, Nephrocalcinosis, Renal insufficiency	OMIM:204690
Cat Eye Syndrome	Renal agenesis, Hydronephrosis, Horseshoe kidney, Vesicoureteral reflux	OMIM:115470
Oculogastrointestinal Muscular Dystrophy	Cachexia, Skeletal muscle atrophy, Myopathy	ORPHA:1876
X-Linked Creatine Transporter Deficiency	Abnormal circulating creatine concentration, Cachexia	ORPHA:52503
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph...	ORPHA:169154
Rat-Bite Fever	Skin rash, Pericarditis, Pustule, Chills, Erythema nodosum, Morbilliform rash, Myocarditis, Tendo...	ORPHA:31205
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Recurrent pneumonia, Hydronephrosis, Contracture of the proximal interphalangeal joi...	ORPHA:464738
Sotos Syndrome	Chronic otitis media, Ureteral duplication, Congenital posterior urethral valve, Abnormality of t...	ORPHA:821
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Genital ulcers, Skin rash, Thrombocytopenia, Anterior uveitis, Lymphopenia, Hemolytic anemia, Col...	OMIM:616744
Short Stature, Microcephaly, And Endocrine Dysfunction	Abnormal circulating lipid concentration, Anemia, Unilateral renal agenesis, Ectopic kidney, Trun...	OMIM:616541
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormality of iron homeostasis, Erectile dysfunction, Arthritis, Abdominal pain, Decreased libid...	ORPHA:465508
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Limb hypertonia, Failure to thrive, Ureteropelvic junction obstruction, H...	ORPHA:444072
Nephrogenic Diabetes Insipidus	Hydroureter, Hyposthenuria, Enuresis nocturna, Functional abnormality of the bladder, Renal insuf...	ORPHA:223
Baraitser-Winter Cerebrofrontofacial Syndrome	Failure to thrive, Hydronephrosis, Hydroureter, Abnormality of the upper urinary tract	ORPHA:2995
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Hypospadias, Vesicoureteral reflux, Bifid scrotum, Bicornuate ut...	ORPHA:2745
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Hydronephrosis, Vesicoureteral reflux	OMIM:620663
Xq28 (MECP2) duplication	Functional abnormality of the bladder	DECIPHER:45
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Ureteral triplication, Hydronephrosis	OMIM:104350
7Q11.23 Microduplication Syndrome	Chronic otitis media, Congenital diaphragmatic hernia, Unilateral renal agenesis, Hypospadias, En...	ORPHA:96121
Gabriele-De Vries Syndrome	Facial hypotonia, Ureteropelvic junction obstruction, Hydronephrosis, Distal arthrogryposis, Cryp...	OMIM:617557
Liver Disease, Severe Congenital	Lymphocytosis, Hypoproteinemia, Hyperammonemia, Leukopenia, Splenomegaly, Hypospadias, Hypocalcem...	OMIM:619991
Infantile Krabbe Disease	Cachexia, Failure to thrive, Shoulder girdle muscle weakness	ORPHA:206436
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Recurrent aphthous stomatitis, Acute myeloid leukemia, Periodontitis, Abdominal ...	ORPHA:486
Fusariosis	Lung abscess, Abnormality of the kidney, Panniculitis, Maculopapular exanthema, Myositis, Arthrit...	ORPHA:228119
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Abnormal renal collecting system morphology, Hydroureter, Unilateral renal dysplasia, Congenital ...	ORPHA:280633
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Episodic abdominal pain, Hydronephrosis, Chronic fatigue, Weight loss	ORPHA:100078
Dubowitz Syndrome	Abnormal female external genitalia morphology, Anemia, Hypospadias, Hypoparathyroidism, Eczematoi...	ORPHA:235
Autosomal Recessive Spastic Paraplegia Type 15	Functional abnormality of the bladder	ORPHA:100996
Thakker-Donnai Syndrome	Congenital diaphragmatic hernia, Hydronephrosis, Rectovaginal fistula	ORPHA:1780
Distal Deletion 12Q	Late onset atopic dermatitis, Ectopic kidney, Polycystic kidney dysplasia, Vesicoureteral reflux,...	ORPHA:96149
Au-Kline Syndrome	Vesicoureteral reflux, Cryptorchidism, Failure to thrive, Hydronephrosis, Chronic kidney disease,...	OMIM:616580
White-Kernohan Syndrome	Recurrent otitis media, Hydroureter, Rectovaginal fistula, Hypothyroidism, Obesity, Hydronephrosi...	OMIM:619426
Bannayan-Riley-Ruvalcaba Syndrome	Cachexia, Uterine neoplasm, Hashimoto thyroiditis, Skeletal muscle atrophy, Myopathy	ORPHA:109
Undifferentiated Pleomorphic Sarcoma	Fatigue, Weight loss	ORPHA:2023
15q26 overgrowth syndrome	Abnormality of the kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Renal agenesis, Ca...	DECIPHER:81
Otopalatodigital Syndrome Type 2	Hypospadias, Camptodactyly of finger, Failure to thrive, Ureteral obstruction, Hydronephrosis	ORPHA:90652
Stromme Syndrome	Hydronephrosis, Myopathy, Bilateral renal hypoplasia, Accessory spleen	OMIM:243605
Alström Syndrome	Hypertriglyceridemia, Urinary incontinence, Precocious puberty in females, Primary hypothyroidism...	ORPHA:64
Schinzel-Giedion Midface Retraction Syndrome	Hydroureter, Hypospadias, Hypoplastic labia minora, Bicornuate uterus, Ureteral stenosis, Splenop...	OMIM:269150
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Recurrent otitis media, Pancytopenia, Abnormally low T cell receptor excision circle level, B lym...	OMIM:618986
Fryns Syndrome	Large for gestational age, Ureteral duplication, Hypospadias, Aplasia of the left hemidiaphragm, ...	OMIM:229850
Allergic Bronchopulmonary Aspergillosis	Bronchiectasis, Abnormal eosinophil morphology, Weight loss	ORPHA:1164
Chronic Beryllium Disease	Abnormal proportion of CD4-positive T cells, Lymphocytic interstitial pneumonia, Fatigue, Weight ...	ORPHA:133
Tarp Syndrome	Extramedullary hematopoiesis, Failure to thrive, Hydronephrosis, Cryptorchidism, Horseshoe kidney	ORPHA:2886
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Failure to thrive secondary to recurrent infections, Decreased proporti...	ORPHA:169160
Craniofacioskeletal Syndrome	Hypocalcemia, Hydronephrosis, Hypospadias, Cryptorchidism	OMIM:300712
15Q Overgrowth Syndrome	Abnormal renal morphology, Hydronephrosis, Contracture of the proximal interphalangeal joint of t...	ORPHA:314585
Peripheral Primitive Neuroectodermal Tumor	Anemia, Pancreatitis, Torticollis, Ovarian neoplasm, Upper limb pain, Episodic abdominal pain, Pr...	ORPHA:370348
Gaucher Disease Type 3	Anemia, Hematuria, Pancytopenia, Bone pain, Fatigue, Thrombocytopenia, Splenomegaly, Proteinuria	ORPHA:77261
Hypoplasminogenemia	Abnormal fallopian tube morphology, Periodontitis, Nephrolithiasis, Decreased level of plasminoge...	ORPHA:722
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Chronic oral candidiasis, Decreased proportion of CD3-positive T cells, Abnormally low T cell rec...	ORPHA:276
Campomelic Dysplasia	Ambiguous genitalia, Hydronephrosis, Male pseudohermaphroditism	ORPHA:140
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Peritoneal Cystic Mesothelioma	Abdominal pain, Dyspareunia, Menorrhagia, Weight loss, Peritonitis, Metrorrhagia	ORPHA:168816
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Elevated circulating C-reactive protein concentration, Malar rash, Myositis, Skin rash, P...	OMIM:615934
Cardiofaciocutaneous Syndrome 1	Atopic dermatitis, Failure to thrive, Hyperhidrosis, Hydronephrosis, Splenomegaly	OMIM:115150
Rett Syndrome	Cachexia, Skeletal muscle atrophy	OMIM:312750
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Elevated circulating C-reactive protein concentration, Myositis, Arthritis, Skin rash, Abdominal ...	ORPHA:32960
Cyclic Neutropenia	Perianal abscess, Periodontitis, Decreased eosinophil count, Abdominal pain, Bone pain, Lymphopen...	ORPHA:2686
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Splenomegaly, Small scrotum, Septate vagina, Hypocholesterolemia, Hypospadias, Bic...	OMIM:270400
Riddle Syndrome	Arthritis, Enuresis nocturna, Abdominal pain, Recurrent pneumonia, Recurrent sinusitis, Otitis me...	ORPHA:420741
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Panniculitis, Anemia, Myositis, Arthritis, Skin rash, Lymphopenia, Sinusiti...	OMIM:617591
Teebi-Shaltout Syndrome	Hydronephrosis, Horseshoe kidney, Camptodactyly, Ureteral stenosis	OMIM:272950
Wiskott-Aldrich Syndrome	Chronic otitis media, Sinusitis, Abnormal platelet morphology, Lymphopenia, Neutropenia, Abnormal...	ORPHA:906
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Premature ovarian insufficiency, Hypoparathyroidism, Macrocytic anemia, Hyperu...	ORPHA:199299
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Renal dysplasia, Abnormality of thyroid physiology, Hydronephrosis	OMIM:300968
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Reticulocytosis, Splenomegaly, Lymphopenia, Recurrent aphthous stomatitis, Thyroid...	ORPHA:3261
Aicardi-Goutieres Syndrome 7	Anemia, Limb hypertonia, Pancytopenia, Arthritis, Skin rash, Chilblains, Atopic dermatitis, Nephr...	OMIM:615846
Cousin Syndrome	Ambiguous genitalia, male, Wrist flexion contracture, Camptodactyly, Hydronephrosis, Ambiguous ge...	OMIM:260660
Hyperphosphatasia-Intellectual Disability Syndrome	Hydronephrosis	ORPHA:247262
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2	Male urethral meatus stenosis, Cryptorchidism	OMIM:616001
Lowe Oculocerebrorenal Syndrome	Low-molecular-weight proteinuria, Bicarbonaturia, Hypercholesterolemia, Elevated circulating crea...	OMIM:309000
Gaucher Disease	Decreased HDL cholesterol concentration, Hematuria, Anemia, Elevated circulating C-reactive prote...	ORPHA:355
Spastic Paraplegia 78, Autosomal Recessive	Urinary urgency	OMIM:617225
Autosomal Dominant Spastic Paraplegia Type 19	Urinary urgency	ORPHA:100999
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abdominal pain, Diastasis recti, Campt...	ORPHA:2092
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Thrombocytosis, Elevated circulating C-reactive protein concentration, Iron def...	OMIM:301074
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Unilateral renal agenesis, Hypospadias, Camptodactyly, Increased mean platelet volume, Hydronephr...	ORPHA:487796
Autosomal Recessive Spastic Paraplegia Type 44	Urinary bladder sphincter dysfunction	ORPHA:320401
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
T-Cell Immunodeficiency With Thymic Aplasia	Pyoderma, Abnormally low T cell receptor excision circle level, Lymphopenia, Eczematoid dermatiti...	OMIM:242700
Congenital Alveolar Capillary Dysplasia	Hydronephrosis, Asplenia	ORPHA:210122
Koolen-De Vries Syndrome Due To A Point Mutation	Decreased response to growth hormone stimulation test, Recurrent otitis media, Hypospadias, Testi...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Recurrent otitis media, Hypospadias, Testi...	ORPHA:363958
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Seborrheic dermatitis, B lymphocytopenia, Superficial dermal perivascular inflammatory infiltrate...	ORPHA:83617
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Hypospadias, Obesity, Weight loss, Cryptorchidism	ORPHA:251071
Pseudomyxoma Peritonei	Inflammation of the large intestine, Weight loss, Abdominal pain	ORPHA:26790
Alg9-Cdg	Enlarged kidney, Torticollis, Hypoplasia of the musculature, Hypoplasia of the ovary, Bicornuate ...	ORPHA:79328
Kaposi Sarcoma	Skin rash, Fatigue, Abnormality of the spleen, Weight loss	ORPHA:33276
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent otitis media, Tubulointerstitial fibrosis, T lymphocytopenia, Rheumatoid arthritis, Hyp...	OMIM:607944
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Panniculitis, Hemophagocytosis, Fatigue, Chills, Hepatosplenomegaly, Weight loss	ORPHA:86884
Cardiofaciocutaneous Syndrome	Failure to thrive in infancy, Hydronephrosis, Cryptorchidism	ORPHA:1340
Raine Syndrome	Hydronephrosis, Hydroureter, Hypophosphatemia, Arthrogryposis multiplex congenita	OMIM:259775
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Recurrent otitis media, Anemia, Unilateral renal agenesis, Pancytopenia, Vesicoureteral reflux, R...	OMIM:620654
Simpson-Golabi-Behmel Syndrome	Congenital diaphragmatic hernia, Ureteral duplication, Hydroureter, Hypospadias, Hypoplasia of pe...	ORPHA:373
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia, Skin rash	ORPHA:220295
Kyphoscoliotic Ehlers-Danlos Syndrome	Bladder diverticulum, Myopathy, Skeletal muscle atrophy	ORPHA:536545
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Renal tubular epithelial necrosis, Skin rash, Anterior uveitis, Neutropenia, Acute kidney injury,...	ORPHA:95455
Rheumatoid Arthritis	Elevated circulating C-reactive protein concentration, Fatigue, Rheumatoid arthritis, Digital fle...	OMIM:180300
Generalized Pseudohypoaldosteronism Type 1	Hyperkalemia, Atopic dermatitis, Glucocortocoid-insensitive primary hyperaldosteronism, Increased...	ORPHA:171876
Hereditary Late-Onset Parkinson Disease	Hypomimic face, Spastic/hyperactive bladder, Weight loss	ORPHA:411602
Cockayne Syndrome A	Renal insufficiency, Anhidrosis, Failure to thrive, Hip contracture, Splenomegaly, Proteinuria, H...	OMIM:216400
Ménétrier Disease	Asthenia, Hypochromic microcytic anemia, Giant hypertrophic gastritis, Abdominal pain, Hypoprotei...	ORPHA:2494
Occipital Horn Syndrome	Esophagitis, Recurrent urinary tract infections, Hepatitis, Bladder diverticulum	ORPHA:198
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Decreased glomerular filtration rate, Focal segmental glomerulosclerosis, Nephrotic syndrome, Ren...	OMIM:614748
Cryptogenic Organizing Pneumonia	Elevated circulating C-reactive protein concentration, Leukocytosis, Fatigue, Neutrophilia, Arthr...	ORPHA:1302
Spastic Paraplegia Type 2	Spastic/hyperactive bladder	ORPHA:99015
Hereditary Acrokeratotic Poikiloderma	Abnormal renal tubule morphology, Abnormal preputium morphology, Keratoconjunctivitis, Eczematoid...	ORPHA:2907
Malignant Atrophic Papulosis	Arteritis, Abdominal pain, Fatigue, Peritonitis, Weight loss, Chest pain, Abnormality of the lowe...	ORPHA:679
Pierson Syndrome	Hypoproteinemia, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hyperechogenic kid...	OMIM:609049
Mowat-Wilson Syndrome	Urinary incontinence, Bifid scrotum, Bowel incontinence, Septate vagina, Abnormality of the kidne...	ORPHA:2152
Spinocerebellar Ataxia 25	Urinary urgency	OMIM:608703
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Recurrent otitis media, Hypospadias, Multicystic kidney dysplasia, Pelvic k...	ORPHA:261537
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Unilateral renal agenesis, Hydronephrosis, Flexion contracture, Elevated 8(9)-cholestenol, Elevat...	OMIM:308050
Holoprosencephaly 3	Hydronephrosis	OMIM:142945
Schinzel-Giedion Syndrome	Hypospadias, Streak ovary, Nephrolithiasis, Renal cyst, Abnormality of the ureter, Camptodactyly,...	ORPHA:798
Cockayne Syndrome B	Severe failure to thrive, Renal insufficiency, Anhidrosis, Failure to thrive, Proteinuria, Spleno...	OMIM:133540
Orofaciodigital Syndrome Type 1	Chronic otitis media, Renal insufficiency, Hydronephrosis, Exocrine pancreatic insufficiency, Pro...	ORPHA:2750
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Chronic mucocutaneous candidiasis, Atopic dermatitis, Recurrent pneumonia, Lymphopenia, Bronchiec...	OMIM:619752
Digeorge Syndrome	Recurrent otitis media, Anemia, Unilateral renal agenesis, Hypocalcemia, Seborrheic dermatitis, H...	OMIM:188400
Hermansky-Pudlak Syndrome	Abdominal pain, Fatigue, Weight loss, Menometrorrhagia, Renal insufficiency, Neutropenia	ORPHA:79430
Apert Syndrome	Chronic otitis media, Hyperhidrosis, Hydronephrosis, Vaginal atresia, Acne, Cryptorchidism	OMIM:101200
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi...	ORPHA:331206
Inflammatory Bowel Disease 11	Inflammation of the large intestine, Weight loss, Abdominal pain	OMIM:191390
Pulmonary Alveolar Microlithiasis	Hematuria, Testicular microlithiasis, Fatigue, Increased circulating surfactant protein level, Go...	ORPHA:60025
Nodular Non-Suppurative Panniculitis	Panniculitis, Inflammatory abnormality of the eye, Abdominal pain, Arthralgia, Splenomegaly, Weig...	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, Splenomegaly, Weight loss	ORPHA:545
Chronic Graft Versus Host Disease	Chest pain, Hematuria, Pancytopenia, Abnormal vagina morphology, Arthritis, Phimosis, Xerostomia,...	ORPHA:99921
Pandas	Enuresis	ORPHA:66624
Juvenile Polyposis Of Infancy	Anemia, Cachexia, Freckled genitalia, Abdominal pain, Hypoalbuminemia, Refractory anemia	ORPHA:79076
Melnick-Needles Syndrome	Failure to thrive, Hydronephrosis, Recurrent otitis media, Ureteral stenosis	OMIM:309350
Amoebiasis Due To Entamoeba Histolytica	Lung abscess, Liver abscess, Anemia, Acute colitis, Abdominal pain, Leukocytosis, Weight loss, Hy...	ORPHA:67
Holoprosencephaly	Congenital diaphragmatic hernia, Anterior hypopituitarism, Hypoplasia of penis, Panhypopituitaris...	ORPHA:2162
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent aphthous stomatitis, Chronic mucocutaneous candidiasis, Re...	OMIM:614868
Proteus Syndrome	Enlarged kidney, Ovarian neoplasm, Long penis, Testicular neoplasm, Cachexia, Enlarged polycystic...	ORPHA:744
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Loeffler Endocarditis	Fatigue, Pericarditis, Weight loss, Left ventricular hypertrophy, Eosinophilia, Chest pain	ORPHA:75566
Robinow Syndrome	External genital hypoplasia, Multicystic kidney dysplasia, Clitoral hypoplasia, Hydronephrosis, W...	ORPHA:97360
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Large for gestational age, Duplicated collecting system, Camptodactyly, Hydrocele testis, Acute l...	OMIM:280000
Celiac Disease, Susceptibility To, 1	Recurrent aphthous stomatitis, Macrocytic anemia, Iron deficiency anemia, Stomatitis, Thyroiditis...	OMIM:212750
Fanconi Anemia	Renal hypoplasia/aplasia, Abnormal renal morphology, Leukopenia, Hypogonadism, Hypospadias, Azoos...	ORPHA:84
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Recurrent otitis media, Impaired lymphocyte transformation with phyt...	OMIM:301000
Immunodeficiency 31C	Autoimmune hemolytic anemia, Chronic oral candidiasis, Impaired lymphocyte transformation with ph...	OMIM:614162
Mast Cell Sarcoma	Fatigue, Splenomegaly, Weight loss, Mastocytosis	ORPHA:66661
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hypospadias, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis, Failure ...	ORPHA:353281
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Bifid scrotum, Bowel incontinence, Duplication of renal pelvis, Septate vag...	ORPHA:261552
1P36 Deletion Syndrome	Abnormality of the kidney, Abnormal female external genitalia morphology, Hypospadias, Hypoplasia...	ORPHA:1606
Trisomy 8P	Cryptorchidism, Nephrocalcinosis, Hydronephrosis, Fetal pyelectasis, Multiple joint contractures,...	ORPHA:264450
Arachnoiditis	Urinary bladder sphincter dysfunction	ORPHA:137817
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Skin rash, Recurrent sinusitis, Leukopenia, Splenomegaly, Lymphopenia, Erythema nodosum, Pancytop...	OMIM:615688
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Hypothyroidism, Recurrent...	OMIM:618849
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hydroureter, Hypospadias, Dilatation of the bladder, Diastasis recti, Bicornuate uterus, Asplenia...	OMIM:265380
Vici Syndrome	Chronic mucocutaneous candidiasis, Elevated circulating creatine kinase concentration, T lymphocy...	OMIM:242840
Robinow Syndrome, Autosomal Recessive 1	Hypospadias, Hypoplastic labia minora, Nephrolithiasis, Camptodactyly, Clitoral hypoplasia, Crypt...	OMIM:268310
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Clitoral hypertrophy, Renal hypoplasia/aplasia, Hypospadias, Hyp...	ORPHA:818
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormality of the kidney, Cheilitis, Hydroureter, Abnormality of the upper urinary tract, Episcl...	ORPHA:2273
Immunodeficiency 9	Recurrent aphthous stomatitis, Abnormal natural killer cell count, Stomatitis, Hypoplasia of the ...	OMIM:612782
Cardiac Valvular Dysplasia 1	Hydronephrosis, Hydroureter, Urethral diverticulum	OMIM:212093
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron...	ORPHA:98849
East Syndrome	Renal salt wasting, Enuresis, Renal sodium wasting, Renal magnesium wasting, Abnormal urinary ele...	ORPHA:199343
Spinal Arteriovenous Metameric Syndrome	Abnormality of the kidney, Urinary bladder sphincter dysfunction	ORPHA:53721
Classical Ehlers-Danlos Syndrome	Limb pain, Cervical insufficiency, Fatigue, Uterine prolapse, Arthralgia, Osteoarthritis, Bladder...	ORPHA:287
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Anemia, Pancytopenia, Azoospermia, Bacterial endocarditis, Cachexia, Hepatosplenomegaly, Splenome...	ORPHA:2072
Adult Idiopathic Neutropenia	Recurrent aphthous stomatitis, Lymphopenia, Monocytopenia, Monocytosis, Neutropenia	ORPHA:2688
Huntington Disease	Decreased body mass index, Abnormal circulating cholesterol concentration, Abnormal libido, Weigh...	ORPHA:399
Narcolepsy Type 1	Nocturia	ORPHA:2073
Leukocyte Adhesion Deficiency	Perianal abscess, Severe periodontitis, Sinusitis, Impaired neutrophil chemotaxis, Chronic oral c...	ORPHA:2968
Legius Syndrome	Ovarian neoplasm, Acute monocytic leukemia, Nephrolithiasis, Nephroblastoma, Male urethral meatus...	ORPHA:137605
Ebola Hemorrhagic Fever	Recurrent singultus, Abdominal pain, Acute pancreatitis, Chills, Leukopenia, Thrombocytopenia, Ar...	ORPHA:319218
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Muscular dystrophy, Elevated circulating creatine kinase concentration, Decreased testicular size...	OMIM:615287
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Type 1 muscle fiber atrophy, Vesicoureteral reflux, Cryptorchidism, Hypothyroidism, Hydronephrosi...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Type 1 muscle fiber atrophy, Vesicoureteral reflux, Cryptorchidism, Hypothyroidism, Hydronephrosi...	ORPHA:352665
Enamel-Renal Syndrome	Hypocalciuria, Renal insufficiency, Impaired renal concentrating ability, Hypophosphaturia, Enure...	ORPHA:1031
Autosomal Recessive Robinow Syndrome	Chronic otitis media, Hypoplastic female external genitalia, Hypoplasia of penis, Camptodactyly o...	ORPHA:1507
Pulmonary Non-Tuberculous Mycobacterial Infection	Bronchiectasis, Asthenia, Chest pain, Weight loss	ORPHA:411703
Primary Intestinal Lymphangiectasia	Anemia, Hypocalcemia, Decreased proportion of CD3-positive T cells, Abdominal pain, Hypoproteinem...	ORPHA:90362
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Diastasis recti, Cryptorchidism, Nephrotic syndrome, Hydronephrosis, Distal arthrogryposis, Recur...	OMIM:601776
Malignant Peritoneal Mesothelioma	Abdominal pain, Weight loss, Peritonitis	ORPHA:168811
Syndromic Diarrhea	Abnormality of iron homeostasis, Gastritis, Polycystic kidney dysplasia, Hypoplasia of the thymus...	ORPHA:84064
Jacobsen Syndrome	Eczematoid dermatitis, Hydronephrosis, Thrombocytopenia, Cryptorchidism, Multicystic kidney dyspl...	ORPHA:2308
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti...	OMIM:617237
Aymé-Gripp Syndrome	Congenital diaphragmatic hernia, Camptodactyly, Pericarditis, Proteinuria, Cryptorchidism	ORPHA:1272
Primary Sclerosing Cholangitis	Pancreatitis, Thyroiditis, Abdominal pain, Fatigue, Hepatitis, Generalized amyotrophy, Ulcerative...	ORPHA:171
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Crohn's disease, Arthritis, Eczematoid dermatitis, Splenomegaly, Atr...	OMIM:616100
Pleural Mesothelioma	Constitutional symptom, Chest pain, Weight loss	ORPHA:50251
Chime Syndrome	Acute leukemia, Abnormality of the kidney, Hydronephrosis	ORPHA:3474
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Anemia, Vesicoureteral reflux, Nephrolithiasis, Aspiration pneumonia, Hypothyroidism, Precocious ...	ORPHA:438213
Spastic Paraplegia 26, Autosomal Recessive	Urinary urgency	OMIM:609195
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Weight loss	ORPHA:312
Gabriele-De Vries Syndrome	Decreased response to growth hormone stimulation test, Facial hypotonia, Hypothyroidism, Ureterop...	ORPHA:506358
Reactive Arthritis	Recurrent aphthous stomatitis, Recurrent urinary tract infections, Arthritis, Abdominal pain, Per...	ORPHA:29207
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss	ORPHA:2198
Cap Polyposis	Abdominal pain, Weight loss, Atrophic gastritis	ORPHA:160148
Kabuki Syndrome 1	Recurrent otitis media, Anoperineal fistula, Premature thelarche, Congenital hypothyroidism, Uret...	OMIM:147920
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Abnormally low T cell receptor excision circle level, B lymphocytopenia, Lymphope...	OMIM:602450
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Azotemia, Hypoplasia of the ovary, Leukocytosis, Decreased testicular size, Renal hypoplasia, Fle...	OMIM:619321
Tetrasomy 9P	Myositis, Recurrent urinary tract infections, Arthritis, Infertility, Oligozoospermia, Fatigue, P...	ORPHA:3310
3Mc Syndrome 1	Hydronephrosis, Diastasis recti	OMIM:257920
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Anemia, Hip osteoarthritis, Knee osteoarthritis, Arthritis, Uveitis, Synovitis, Enthesitis, Hepat...	ORPHA:85408
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Immunodeficiency 82 With Systemic Inflammation	Crohn's disease, Skin rash, T lymphocytopenia, Splenomegaly, Reduced natural killer cell count, A...	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	Aspiration pneumonia, Failure to thrive, Camptodactyly of finger, Abnormal scrotum morphology, He...	ORPHA:354
Huntington Disease-Like 2	Weight loss	OMIM:606438
Inflammatory Pseudotumor Of The Liver	Asthenia, Weight loss, Abdominal pain	ORPHA:90003
Secondary Short Bowel Syndrome	Primary hypothyroidism, Central hypothyroidism, Enterocolitis, Failure to thrive, Weight loss, Ab...	ORPHA:95427
Microcephaly, Epilepsy, And Diabetes Syndrome 1	External genital hypoplasia, Obesity, Hypogonadism, Small scrotum, Cryptorchidism, Moderate album...	OMIM:614231
Granulomatosis With Polyangiitis	Chronic otitis media, Asthenia, Fatigue, Episcleritis, Sinusitis, Keratitis, Weight loss, Conjunc...	OMIM:608710
Pneumocystosis	Chronic oral candidiasis, Abnormal neutrophil count, Acute infectious pneumonia, Weight loss, Int...	ORPHA:723
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Bronchiectasis, Chest pain, Weight loss	ORPHA:79127
Bullous Pemphigoid	Psoriasiform dermatitis, Weight loss, Eczematoid dermatitis	ORPHA:703
Stickler Syndrome	Chronic otitis media, Bone pain, Cachexia, Slender build, Arthralgia, Osteoarthritis, Skeletal mu...	ORPHA:828
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hypospadias, Synovit...	ORPHA:3455
Distal Deletion 10Q	Acute kidney injury, Vesicoureteral reflux, Enuresis, Functional abnormality of the bladder, Hors...	ORPHA:96148
Orofaciodigital Syndrome I	Polycystic kidney dysplasia, Ovarian cyst, Proteinuria	OMIM:311200
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Chronic oral candidiasis, Acute otitis media, Impaired lymphocyte transformation with phytohemagg...	ORPHA:35078
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Focal segmental glomerulosclerosis, Elevated hemoglobin A1c, Proteinuria, L...	OMIM:619127
Autosomal Dominant Spastic Paraplegia Type 10	Spastic/hyperactive bladder, Urinary urgency	ORPHA:100991
Marfan Syndrome	Cachexia, Arthralgia/arthritis, Slender build, Chronic fatigue, Skeletal muscle atrophy, Myalgia	ORPHA:558
Lacrimoauriculodentodigital Syndrome	Arthritis, Xerostomia, Vesicoureteral reflux, Keratoconjunctivitis, Bicornuate uterus, Renal hypo...	ORPHA:2363
Rubinstein-Taybi Syndrome 1	Hypospadias, Accessory spleen, Bilateral cryptorchidism, Premature thelarche, Failure to thrive, ...	OMIM:180849
Charge Syndrome	Anterior hypopituitarism, Labial hypoplasia, Vesicoureteral reflux, Facial palsy, Bifid scrotum, ...	ORPHA:138
Arboleda-Tham Syndrome	Chronic otitis media, Recurrent otitis media, Lower limb amyotrophy, Recurrent urinary tract infe...	OMIM:616268
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Complex Regional Pain Syndrome	Allodynia	ORPHA:83452
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Urinary urgency	OMIM:601338
Knobloch Syndrome 1	Renal duplication, Hydronephrosis, Bifid ureter, Duplicated collecting system	OMIM:267750
Cushing Disease	Amenorrhea, Decreased eosinophil count, Secondary amenorrhea, Increased body weight, Abdominal ob...	ORPHA:96253
Blepharophimosis-Impaired Intellectual Development Syndrome	Recurrent urinary tract infections, Hypospadias, Enuresis	OMIM:619293
Graves Disease	Increased circulating free T3, Graves disease, Hyperhidrosis, Weight loss, Increased circulating ...	OMIM:275000
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Hypospadias, Rectovaginal fistula, Hypocalcemia, Primary hypothyroidism, In...	OMIM:243800
Congenital Disorder Of Glycosylation, Type Iiw	Recurrent otitis media, Anemia, Microscopic hematuria, Failure to thrive, Thrombocytopenia, Splen...	OMIM:619525
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Bone Dysplasia, Lethal Holmgren Type	Failure to thrive, Anemia, Weight loss	ORPHA:1842
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Precocious puberty, Encopresis, Cryptorchidism, Proteinuria	OMIM:616682
Thymic Carcinoma	Chest pain, Hyperhidrosis, Fatigue, Weight loss	ORPHA:99868
Hydrolethalus Syndrome 1	Hypospadias, Abnormal vagina morphology, Accessory spleen, Hydronephrosis, Bifid uterus, Agenesis...	OMIM:236680
Sarcoidosis, Susceptibility To, 1	Pancytopenia, Hypercalciuria, Arthritis, Inflammation of the large intestine, Splenomegaly, Irido...	OMIM:181000
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Apla...	OMIM:618280
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormality of the kidney, Hypospadias, Recurrent urinary tract infections, Vesicoureteral reflux...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormality of the kidney, Hypospadias, Recurrent urinary tract infections, Vesicoureteral reflux...	ORPHA:353277
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	Rhabdomyolysis, Weight loss, Hyperthyroidism, Hypokalemia	OMIM:188580
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Rectovaginal fistula, Lymphopenia, Inflammation of the large intestine, Knee flexion contracture,...	OMIM:619708
Tetraamelia Syndrome 1	Congenital diaphragmatic hernia, Hypoplasia of the fallopian tube, Asplenia, Renal agenesis, Vagi...	OMIM:273395
Juvenile Dermatomyositis	Calcinosis, Elevated circulating C-reactive protein concentration, Myositis, Arthritis, Skin rash...	ORPHA:93672
Campomelic Dysplasia	Hypospadias, Failure to thrive, Hydronephrosis, Contracture of the distal interphalangeal joint o...	OMIM:114290
Spastic Paraplegia 84, Autosomal Recessive	Urinary urgency	OMIM:619621
Doors Syndrome	Aspiration pneumonia, Congenital hypothyroidism, Hydronephrosis, Nephrocalcinosis, Increased urin...	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	Renal salt wasting, Polyuria, Hypocalciuria, Renal potassium wasting, Enuresis, Renal sodium wasting	OMIM:612780
Budd-Chiari Syndrome	Abdominal pain, Splenomegaly, Weight loss, Peritonitis, Cholecystitis	ORPHA:131
Mesomelia-Synostoses Syndrome	Hydronephrosis	OMIM:600383
Intellectual Disability-Alacrima-Achalasia Syndrome	Enuresis	ORPHA:289483
Zollinger-Ellison Syndrome	Esophagitis, Episodic abdominal pain, Hypercalcemia, Weight loss, Elevated circulating growth hor...	ORPHA:913
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss, Aspiration pneumonia	ORPHA:216866
Hirschsprung Disease	Failure to thrive in infancy, Weight loss, Abdominal pain	ORPHA:388
Charge Syndrome	Decreased response to growth hormone stimulation test, External genital hypoplasia, Hypoparathyro...	OMIM:214800
Peters Plus Syndrome	Renal hypoplasia/aplasia, Ureteral duplication, Hypospadias, Anterior hypopituitarism, Hypoplasia...	ORPHA:709
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, C...	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 polysaccharide concentration, Weight loss, Abnormal circula...	ORPHA:103910
Hennekam Syndrome	Ectopic kidney, Hypocalcemia, Erysipelas, Camptodactyly of finger, Splenomegaly, Lymphopenia, Hor...	ORPHA:2136
Ataxia-Telangiectasia	Abnormal spermatogenesis, Hypoplasia of the thymus, T lymphocytopenia, Sinusitis, Failure to thri...	OMIM:208900
Biliary, Renal, Neurologic, And Skeletal Syndrome	Increased circulating ferritin concentration, Elevated circulating creatinine concentration, Hype...	OMIM:619534
Spinocerebellar Ataxia, Autosomal Recessive 7	Urinary urgency	OMIM:609270
Kikuchi-Fujimoto Disease	Myocarditis, Anemia, Elevated circulating C-reactive protein concentration, Malar rash, Lymphocyt...	ORPHA:50918
Seckel Syndrome	Cachexia	ORPHA:808
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Anemia, Accessory spleen, Hypothyroidism, Renal hypoplasia, Severe B lymphocytopenia, Thrombocyto...	OMIM:620005
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytop...	OMIM:600802
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic/hyperactive bladder	ORPHA:137898
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Renal cyst, Uterus didelphys, Renal hypoplasia, Urethrovaginal fistula, Hydr...	ORPHA:93271
Acquired Hypertrichosis Lanuginosa	Macroglossia, Ovarian neoplasm, Weight loss	ORPHA:2221
Nocardiosis	Scleritis, Chest pain, Liver abscess, Night sweats, Thyroiditis, Lymphadenitis, Fatigue, Pericard...	ORPHA:31204
Genitopatellar Syndrome	Clitoral hypertrophy, Enlarged labia minora, Multicystic kidney dysplasia, Labial hypoplasia, Hyp...	OMIM:606170
Vascular Ehlers-Danlos Syndrome	Hypospadias, Hypokalemia, Periodontitis, Uterine rupture, Renovascular hypertension, Uterine prol...	ORPHA:286
Poems Syndrome	Erectile dysfunction, Pain, Fatigue, Hypothyroidism, Polycythemia, Primary adrenal insufficiency,...	ORPHA:2905
Robinow Syndrome, Autosomal Dominant 1	Clitoral hypoplasia, Cryptorchidism, Hydronephrosis, Renal duplication, Macroglossia, Micropenis,...	OMIM:180700
Meckel Syndrome	Ureteral duplication, Accessory spleen, Asplenia, Male pseudohermaphroditism, True hermaphroditis...	ORPHA:564
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Pain, Weight loss	ORPHA:704
Trigeminal Neuralgia	Allodynia	ORPHA:221091
Common Variable Immunodeficiency	Chronic otitis media, Bronchiectasis, Arthralgia, Splenomegaly, Otitis media, Lymphopenia, Pneumo...	ORPHA:1572
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Clitoral hypertrophy, Hydroureter, Ectopic kidney, Hypospadias, ...	OMIM:135900
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Increased circulating T4 concentration, Hypokalemia, Hyperthyroidism, Weight loss, Increased circ...	OMIM:613239
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Proximal tubulopathy, Organic aciduria, Medullary nephrocalcinosi...	OMIM:619743
Cushing Syndrome Due To Ectopic Acth Secretion	Asthenia, Amenorrhea, Decreased eosinophil count, Secondary amenorrhea, Increased body weight, Ab...	ORPHA:99889
Bronchial Neuroendocrine Tumor	Elevated circulating growth hormone concentration, Weight loss, Pneumonia, Night sweats, Chest pa...	ORPHA:97287
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hypocalcemia, Eczematoid dermatitis, Recurrent pneumonia, Hydronephrosis, Small scrotum	OMIM:620330
Tsh-Secreting Pituitary Adenoma	Erectile dysfunction, Impotence, Female hypogonadism, Hyperhidrosis, Hypogonadism, Central adrena...	ORPHA:91347
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Enlarged kidney, Hypospadias, Facial hypotonia, Diastasis recti,...	OMIM:312870
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Gitelman Syndrome	Polyuria, Hypocalciuria, Renal potassium wasting, Enuresis, Nocturia, Renal magnesium wasting	OMIM:263800
Anaplastic Thyroid Carcinoma	Abnormal skeletal muscle morphology, Pain, Weight loss	ORPHA:142
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Renal hypoplasia/aplasia, Abnormal renal morphology, Sinusitis, Granuloma, Hydronephrosis	ORPHA:363700
Multiple Endocrine Neoplasia Type 1	Decreased male libido, Hypercalciuria, Abdominal pain, Impairment of activities of daily living, ...	ORPHA:652
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Ureteral duplication, Labial hypoplasia, Diastasis recti, Clitor...	OMIM:305600
Congenital Fiber-Type Disproportion Myopathy	Ankle flexion contracture, Knee flexion contracture, Weakness of facial musculature, Hypoplasia o...	ORPHA:2020
Peters-Plus Syndrome	Ureteral duplication, Hypospadias, Decreased body weight, Diastasis recti, Clitoral hypoplasia, R...	OMIM:261540
Congenital Tufting Enteropathy	Arthritis, Failure to thrive, Weight loss, Punctate keratitis	ORPHA:92050
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Exercise intolerance, Ragged-red muscle fibers, Scapular winging, Muscle fiber necrosis, Increase...	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	Cheilitis, Blepharitis, Pustule, Failure to thrive, Weight loss, Conjunctivitis	ORPHA:37
Acrofacial Dysostosis, Cincinnati Type	Recurrent otitis media, Decreased body weight, Bilateral cryptorchidism, Failure to thrive, Hydro...	OMIM:616462
Pelizaeus-Merzbacher Disease	Urinary urgency	OMIM:312080
Malt Lymphoma	Anemia, Abdominal pain, Posterior uveitis, Fatigue, Hyperhidrosis, Weight loss	ORPHA:52417
Polycythemia Vera	Acute leukemia, Abdominal pain, Leukocytosis, Fatigue, Polycythemia, Arthralgia, Splenomegaly, We...	ORPHA:729
Machado-Joseph Disease	Urinary bladder sphincter dysfunction	OMIM:109150
Osteosarcoma	Pain, Weight loss	ORPHA:668
Anterior Cutaneous Nerve Entrapment Syndrome	Allodynia	ORPHA:51890
Pmm2-Cdg	Abnormal renal tubule morphology, Hyperplastic labia majora, Increased circulating prolactin conc...	ORPHA:79318
Perry Syndrome	Weight loss	ORPHA:178509
Whim Syndrome	Severe periodontitis, Parotitis, Lymphadenitis, Abnormal neutrophil morphology, Bronchiectasis, S...	ORPHA:51636
Tropical Endomyocardial Fibrosis	Cachexia, Fatigue, Hypoalbuminemia, Splenomegaly, Eosinophilia, Myocardial calcification	ORPHA:75565
Spastic Ataxia, Charlevoix-Saguenay Type	Urinary urgency	OMIM:270550
Familial Thrombocytosis	Chest pain, Acute myeloid leukemia, Hyperhidrosis, Splenomegaly, Weight loss, Chronic myelogenous...	ORPHA:71493
Neurotrophic Keratopathy	Allodynia	ORPHA:137596
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Urinary bladder sphincter dysfunction	ORPHA:64753
Spinocerebellar Ataxia 1	Urinary bladder sphincter dysfunction	OMIM:164400
Familial Colorectal Cancer Type X	Abdominal pain, Fatigue, Flexion contracture, Weight loss, Abnormal circulating creatine concentr...	ORPHA:440437
Oromandibular Dystonia	Pain, Torticollis, Weight loss	ORPHA:93958
Glucagonoma	Increased circulating gonadotropin level, Normochromic anemia, Stomatitis, Skin rash, Episodic ab...	ORPHA:97280
Otopalatodigital Syndrome, Type Ii	Hydronephrosis, Elbow contracture, Hypospadias, Cryptorchidism	OMIM:304120
Pancreatic Triacylglycerol Lipase Deficiency	Iron deficiency anemia, Abdominal pain, Fatigue, Exocrine pancreatic insufficiency, Weight loss, ...	ORPHA:309031
Viss Syndrome	Chronic gastritis, Contracture of the proximal interphalangeal joint of the 2nd toe, Atopic derma...	OMIM:619472
Parkinson Disease, Late-Onset	Urinary urgency	OMIM:168600
Dermatomyositis	Myocarditis, Inflammatory myopathy, Myositis, Arthritis, Skin rash, Abnormal eosinophil morpholog...	ORPHA:221
Norrie Disease	Erectile dysfunction, Cachexia, Cryptorchidism, Failure to thrive, Uterine rupture	ORPHA:649
Immunodeficiency 55	Eczematoid dermatitis, Lymphopenia, Recurrent skin infections, Absent natural killer cells, Neutr...	OMIM:617827
Tenorio Syndrome	Enuresis	OMIM:616260
Fragile X-Associated Tremor/Ataxia Syndrome	Pollakisuria, Urinary bladder sphincter dysfunction	ORPHA:93256
Lynch Syndrome	Renal neoplasm, Ovarian neoplasm, Abdominal pain, Fatigue, Flexion contracture, Weight loss, Endo...	ORPHA:144
Mucolipidosis Type Ii	Knee flexion contracture, Diastasis recti, Left ventricular hypertrophy, Hip contracture, Hepatos...	ORPHA:576
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Renal dysplasia, Hydronephrosis, Abnormal circulating thyroid hormone concentration	ORPHA:480880
Familial Pancreatic Carcinoma	Abdominal pain, Peritoneal abscess, Back pain, Exocrine pancreatic insufficiency, Hepatosplenomeg...	ORPHA:1333
Medullary Thyroid Carcinoma	Hyperhidrosis, Primary hyperparathyroidism, Weight loss	ORPHA:1332
Parkinson Disease 1, Autosomal Dominant	Urinary urgency	OMIM:168601
Reynolds Syndrome	Asthenia, Calcinosis, Hyperbilirubinemia, Arthralgia, Splenomegaly, Lymphopenia, Erythema nodosum	OMIM:613471
Gallbladder Neuroendocrine Tumor	Chronic fatigue, Cholecystitis, Weight loss, Episodic abdominal pain	ORPHA:100086
Vaginal Atresia	Transverse vaginal septum, Vaginal hematocele, Abdominal pain, Imperforate hymen, Bicornuate uter...	ORPHA:65681
Glossopharyngeal Neuralgia	Mandibular pain, Ear pain, Episodic pain, Weight loss, Tongue pain	ORPHA:221098
Autoimmune Pulmonary Alveolar Proteinosis	Chest pain, Fatigue, Weight loss, Abnormal circulating protein concentration	ORPHA:747
Friedreich Ataxia	Urinary bladder sphincter dysfunction	ORPHA:95
Citrullinemia Type Ii	Enuresis	ORPHA:247585
Oculopharyngodistal Myopathy 1	Distal amyotrophy, Rimmed vacuoles, Autophagic vacuoles, Elevated circulating creatine kinase con...	OMIM:164310
Benign Schwannoma	Allodynia	ORPHA:252164
Tropical Pancreatitis	Epigastric pain, Chronic calcifying pancreatitis, Weight loss	ORPHA:103918
Vipoma	Increased circulating gonadotropin level, Normochromic anemia, Hypokalemia, Episodic abdominal pa...	ORPHA:97282
Perry Syndrome	Weight loss	OMIM:168605
Primary Hepatic Neuroendocrine Carcinoma	Night sweats, Chronic fatigue, Episodic abdominal pain, Weight loss	ORPHA:100085
Short Syndrome	Weight loss	ORPHA:3163
Adult-Onset Autosomal Dominant Leukodystrophy	Recurrent urinary tract infections, Urinary retention, Urinary urgency	ORPHA:99027
Superficial Siderosis	Functional abnormality of the bladder	ORPHA:247245
Somatostatinoma	Increased circulating gonadotropin level, Hypochromic microcytic anemia, Episodic abdominal pain,...	ORPHA:97283
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Weight loss, Activating thyroid-stimulating ...	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	Iron deficiency anemia, Weight loss, Episodic abdominal pain	ORPHA:100075
Klatskin Tumor	Abdominal pain, Fatigue, Weight loss	ORPHA:99978
Choreoacanthocytosis	Arthritis, Distal amyotrophy, Abnormal erythrocyte enzyme concentration or activity, Elevated cir...	ORPHA:2388
Ppoma	Increased circulating gonadotropin level, Episodic abdominal pain, Primary hyperparathyroidism, H...	ORPHA:97278
Grfoma	Increased circulating gonadotropin level, Episodic abdominal pain, Primary hyperparathyroidism, H...	ORPHA:97261
Autosomal Dominant Progressive External Ophthalmoplegia	Nocturia	ORPHA:254892
Familial Gestational Hyperthyroidism	Activating thyroid-stimulating hormone receptor defect, Thyrotoxicosis with diffuse goiter, Hyper...	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	Severe failure to thrive, Hip pain, Hypoplastic male external genitalia, Delayed menarche, Female...	ORPHA:740
Parkinson Disease 14, Autosomal Recessive	Nocturia	OMIM:612953
Pancreatoblastoma	Abdominal pain, Weight loss	ORPHA:677
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Pelvic kidney, Micropenis, Unilateral renal agenesis, 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

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Access Data Release 21.0 Data