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Gene: Htr3a MGI:96282

Gene Summary

Name:

5-hydroxytryptamine (serotonin) receptor 3A

Synonyms:

5-HT3 receptor

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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

Download data as: TSV XLS

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

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Viewing: all phenotypes

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Viewing: all phenotypes

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

X-ray

XRay Images Skull Dorso Ventral Orientation

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Auditory Brain Stem Response

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

8 Images

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Human diseases caused by Htr3a mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Htr3a (0 diseases)
Human diseases predicted to be associated with Htr3a (1374 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	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614817
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Flank pain, Functional abnormality of the ...	ORPHA:93108
Xanthinuria, Type I	Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Myopathy, Hydronephrosis	OMIM:278300
Urofacial Syndrome 1	Recurrent urinary tract infections, Urethral valve, Hydroureter, Cryptorchidism, Urethral obstruc...	OMIM:236730
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea...	OMIM:191800
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Bowel incontinence...	ORPHA:2704
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Exercise intolerance, Renal insufficiency, Elevated circulating creatine kinase concentration, El...	ORPHA:228302
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Adrenomyodystrophy	Primary adrenal insufficiency, Megacystis, Myopathy, Abnormality of the urinary system, Failure t...	ORPHA:977
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Arthralgia, Nephritis, IgA deposition in ...	OMIM:613944
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits...	ORPHA:449395
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Arthralgia, Nephritis	OMIM:216950
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo...	ORPHA:85450
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Torticollis, Cryptorchidism, Pyelonephritis, Oligozoospermia, Nephritis...	OMIM:314300
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer...	OMIM:603860
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula...	ORPHA:730
Nephronophthisis 18	Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri...	OMIM:615862
Spastic Paraplegia 13, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incon...	OMIM:605280
Spastic Paraplegia 12, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incon...	OMIM:604805
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Spastic Paraplegia 19, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incon...	OMIM:607152
Spastic Paraplegia 41, Autosomal Dominant	Urinary urgency	OMIM:613364
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Recurrent urinary tract infections, Fetal pyelectasis, Megacystis, Nephrolithiasis	OMIM:619365
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Failure to thrive, Hypernatremia, Megacystis, Polyuria	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Failure to thrive, Hypernatremia, Megacystis, Polyuria	OMIM:304800
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Autoimmune thrombocytopenia, Renal hypoplasia, Hypertrophy of the urinary bladder, Urethral obstr...	OMIM:601389
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom...	OMIM:615008
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalonic aciduria, T...	OMIM:251000
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the spleen, Abnormality of the ur...	ORPHA:2552
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency	Urinary bladder sphincter dysfunction	ORPHA:284282
Complement Factor I Deficiency	Recurrent urinary tract infections, Renal insufficiency, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Endove Syndrome, Limb-Brain Type	Recurrent urinary tract infections, Neurogenic bladder, Osteomyelitis, Failure to thrive, Hydrone...	OMIM:619218
Spastic Paraplegia 36, Autosomal Dominant	Urinary urgency, Lower limb muscle weakness, Urinary incontinence	OMIM:613096
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Hyperprolinemia, Prolinuria	ORPHA:419
Autosomal Dominant Spastic Paraplegia Type 13	Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incon...	ORPHA:100994
Intellectual Developmental Disorder, X-Linked 29	Testicular dysgenesis, Urinary incontinence	OMIM:300419
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,...	OMIM:617006
Spastic Paraplegia 8, Autosomal Dominant	Low back pain, Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction, Lowe...	OMIM:603563
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Spastic Paraplegia 37, Autosomal Dominant	Urinary urgency, Urinary incontinence	OMIM:611945
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Arthralgia, Nephritis, IgA deposition in ...	OMIM:161950
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Urethral stricture, Keratitis, Motheaten muscle fibers, Muscular dystrophy, Increased variability...	OMIM:226670
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Senior-Loken Syndrome 9	Stage 5 chronic kidney disease, Obesity, Tubulointerstitial nephritis, Hypogonadism, Nephronophth...	OMIM:616629
Spastic Paraplegia 3, Autosomal Dominant	Distal lower limb amyotrophy, Urinary incontinence, Urinary urgency, Urinary bladder sphincter dy...	OMIM:182600
Spastic Paraplegia 6, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incon...	OMIM:600363
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,...	OMIM:602088
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi...	ORPHA:105
Spastic Paraplegia 27, Autosomal Recessive	Spastic/hyperactive bladder	OMIM:609041
Siddiqi Syndrome	Flexion contracture, Lower limb amyotrophy, Urinary incontinence	OMIM:618635
Granulomatosis With Polyangiitis	Sinusitis, Elevated circulating C-reactive protein concentration, Granulomatosis, Arthralgia, Oti...	ORPHA:900
Adult Polyglucosan Body Disease	Neurogenic bladder, Urinary bladder sphincter dysfunction, Urinary incontinence	ORPHA:206583
Nephrotic Syndrome, Type 23	Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome...	OMIM:619201
Epidermolysis Bullosa, Junctional 5A, Intermediate	Urethral stenosis	OMIM:619816
Spastic Paraplegia, Ataxia, And Mental Retardation	Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incon...	OMIM:607565
X-Linked Spastic Paraplegia Type 16	Functional abnormality of the bladder	ORPHA:100997
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t...	ORPHA:617
Hand-Foot-Genital Syndrome	Bifid scrotum, Renal insufficiency, Hypospadias, Uterus didelphys, Micropenis, Pyelonephritis, Sm...	OMIM:140000
Silver-Russell Syndrome 1	Urethral valve, Hypospadias, Decreased response to growth hormone stimulation test, Small for ges...	OMIM:180860
Autosomal Recessive Spastic Paraplegia Type 48	Urinary incontinence, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Elevated...	ORPHA:306511
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity	OMIM:619351
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Proteinuria, Glomerular deposits, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Peroxisome Biogenesis Disorder 10B	Nephrocalcinosis, Neurogenic bladder	OMIM:617370
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Skin rash, Eosinophilia, Pustule, Myocarditis, Hepatitis, Thyroiditis, Weigh...	ORPHA:139402
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Hydroureter, Megaloblastic anemia, Hypothyroidism, Hydr...	OMIM:222300
Spastic Paraplegia 10, Autosomal Dominant	Urinary incontinence, Urinary urgency, Upper limb muscle weakness, Lower limb hypertonia, Urinary...	OMIM:604187
Foix-Alajouanine Syndrome	Distal lower limb amyotrophy, Back pain, Neurogenic bladder, Low back pain, Urinary incontinence,...	ORPHA:79093
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Polyglucosan Body Neuropathy, Adult Form	Neurogenic bladder, Urinary incontinence	OMIM:263570
Hemangioblastoma	Upper limb muscle weakness, Neurogenic bladder, Lower limb muscle weakness, Trigeminal neuralgia	ORPHA:252054
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Thrombocyt...	OMIM:613845
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614376
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ...	OMIM:617609
Autosomal Dominant Spastic Paraplegia Type 73	Urinary urgency, Distal lower limb muscle weakness, Urinary incontinence, Distal lower limb amyot...	ORPHA:444099
Carnitine Palmitoyltransferase Ii Deficiency	Exercise intolerance, Elevated circulating creatine kinase concentration, Elevated circulating ac...	ORPHA:157
Spastic Paraplegia 4, Autosomal Dominant	Low back pain, Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction, Lowe...	OMIM:182601
Spastic Paraplegia 16, X-Linked	Facial hypotonia, Urinary incontinence, Lower limb amyotrophy, Urinary urgency, Urinary bladder s...	OMIM:300266
Thyrocerebrorenal Syndrome	Renal insufficiency, Nephritis, Thrombocytopenia, Abnormality of the musculature of the limbs	ORPHA:3327
3-Methylglutaconic Aciduria Type 9	Failure to thrive, 3-Methylglutaconic aciduria, Slender build, Urinary incontinence	ORPHA:505216
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Immunodeficiency, Common Variable, 6	Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Mesangial Immune...	OMIM:613496
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t...	OMIM:617805
Mitochondrial Complex I Deficiency, Nuclear Type 27	Neurogenic bladder	OMIM:618248
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Abdominal pain, Rena...	ORPHA:93126
Lead Poisoning	Decreased HDL cholesterol concentration, Abnormal T cell morphology, Tubulointerstitial nephritis...	ORPHA:330015
Autosomal Dominant Spastic Paraplegia Type 36	Urinary urgency, Arthritis, Urinary incontinence	ORPHA:320365
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Facial hypotonia, Failure to thrive in infan...	OMIM:617595
Webb-Dattani Syndrome	Neurogenic bladder, Decreased response to growth hormone stimulation test, Cryptorchidism, Adreno...	OMIM:615926
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating C-reactive protein concentration, Flank pain, Retrograde ...	ORPHA:49041
2p15-16.1 microdeletion syndrome	Camptodactyly of finger, Hydronephrosis	DECIPHER:70
Lymphatic Filariasis	Fatigue, Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Kne...	ORPHA:2035
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria	ORPHA:2820
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Diencephalic Syndrome	Decreased body weight, Long penis, Cachexia, Hyperhidrosis	ORPHA:1672
Lower Urinary Tract Obstruction, Congenital	Urinary incontinence, Urethral stenosis, Pollakisuria, Congenital posterior urethral valve, Vesic...	OMIM:618612
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu...	OMIM:613092
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Iron deficiency anemia,...	ORPHA:37042
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Prune Belly Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infection...	ORPHA:2970
Autosomal Dominant Spastic Paraplegia Type 6	Skeletal muscle atrophy, Urinary incontinence	ORPHA:100988
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive	OMIM:612075
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot...	ORPHA:54370
Eosinophilic Granulomatosis With Polyangiitis	Fatigue, Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Sinusitis, Increased inflamm...	ORPHA:183
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Majeed Syndrome	Glomerulopathy, Inflammatory abnormality of the skin, Osteomyelitis, Proteinuria, Acne, Cachexia,...	ORPHA:77297
Atypical Hemolytic Uremic Syndrome	Proteinuria, Hematuria, Microangiopathic hemolytic anemia, Acute kidney injury, Thrombocytopenia	ORPHA:2134
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Hydronephrosis	ORPHA:1450
Combined Oxidative Phosphorylation Deficiency 9	Hyperalaninemia, Tubulointerstitial nephritis, Failure to thrive	OMIM:614582
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis	OMIM:619362
Hereditary Renal Hypouricemia	Back pain, Hypouricemia, Postexertional symptom exacerbation, Chronic kidney disease, Hypercalciu...	ORPHA:94088
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612925
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease...	OMIM:162000
Spastic Paraplegia 76, Autosomal Recessive	Skeletal muscle atrophy, Lower limb muscle weakness, Urinary incontinence	OMIM:616907
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Decreased response to growth hormone stimulation t...	OMIM:307200
Cerebroretinal Microangiopathy With Calcifications And Cysts 3	Urinary incontinence	OMIM:620368
Porphyria Variegata	Hyponatremia, Proximal muscle weakness in upper limbs, Neurogenic bladder, Back pain, Abdominal p...	ORPHA:79473
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Distal lower limb amyotrophy, Neurogenic bladder, Thenar muscle atrophy, Distal lower limb muscle...	OMIM:500013
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria	ORPHA:2613
Preeclampsia/Eclampsia 1	Proteinuria, Thrombocytopenia	OMIM:189800
Fowler Urethral Sphincter Dysfunction Syndrome	Acne, Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary rete...	ORPHA:2795
Glutathionuria	Eczema, Urinary incontinence, Glutathionuria	OMIM:231950
Listeriosis	Back pain, Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, Arthralgia,...	ORPHA:533
Familial Visceral Myopathy	Hyperparathyroidism, Hydroureter, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wa...	ORPHA:2604
Spastic Paralysis, Infantile-Onset Ascending	Achilles tendon contracture, Urinary incontinence	OMIM:607225
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612926
Multiple Sclerosis, Susceptibility To	Urinary hesitancy, Urinary incontinence	OMIM:126200
Congenital Disorder Of Glycosylation, Type Iii	Neurogenic bladder	OMIM:613612
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Abnormality of the urinary system, Hydronephrosis	ORPHA:2669
Autosomal Recessive Frontotemporal Pachygyria	Urinary incontinence	ORPHA:329329
Preeclampsia	Increased body mass index, Proteinuria, Abnormality of the kidney, Small for gestational age, Abd...	ORPHA:275555
Perineural Cyst	Urinary incontinence, Retrograde ejaculation, Sciatica, Urinary bladder sphincter dysfunction, Sh...	ORPHA:65250
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Tubulointerstitial nephritis, Proteinuria	OMIM:616901
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s...	OMIM:608709
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612924
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
Renal Caliceal Diverticuli-Deafness Syndrome	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2838
Spastic Paraplegia 11, Autosomal Recessive	Skeletal muscle atrophy, Urinary incontinence, Thenar muscle atrophy, Obesity, Urinary urgency, U...	OMIM:604360
Drug-Induced Lupus Erythematosus	Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive...	ORPHA:231111
Visceral Myopathy 1	Abdominal pain, Megacystis, Hydronephrosis, Urinary retention, Vesicoureteral reflux, Pancreatitis	OMIM:155310
X-Linked Adrenoleukodystrophy	Neurogenic bladder, Impotence, Adrenal insufficiency, Leg muscle stiffness, Abnormality of adrena...	ORPHA:43
Spinocerebellar Ataxia 48	Urinary incontinence, Cachexia	OMIM:618093
Charcot-Marie-Tooth Disease, Type 4B3	Skeletal muscle atrophy, Urinary incontinence, Upper limb muscle weakness, Distal lower limb musc...	OMIM:615284
Spastic Ataxia 3, Autosomal Recessive	Urinary urgency, Neurogenic bladder	OMIM:611390
3-Methylglutaconic Aciduria, Type Ix	Failure to thrive, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Urinary incontinence	OMIM:617698
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Neurogenic blad...	OMIM:619173
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio...	OMIM:616818
Hematuria, Benign Familial, 2	Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology	OMIM:620320
Duplication Of Urethra	Urethral stricture, Bifid scrotum, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia...	ORPHA:237
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Spastic Paraplegia 5A, Autosomal Recessive	Urinary incontinence, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weakness, A...	OMIM:270800
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Megacystis, Hydronephrosis	OMIM:619431
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T...	ORPHA:470
Spastic Paraplegia 85, Autosomal Recessive	Torticollis, Generalized amyotrophy, Lower limb muscle weakness, Urinary incontinence	OMIM:619686
Nephrotic Syndrome, Type 2	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:600995
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Episodic hyperhidrosis, Osteomyelitis, Urinary incontinence	OMIM:613115
Autosomal Recessive Spastic Paraplegia Type 27	Spastic/hyperactive bladder	ORPHA:101007
Alstrom Syndrome	Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Chronic activ...	OMIM:203800
Visceral Myopathy 2	Necrotizing enterocolitis, Megacystis, Esophagitis	OMIM:619350
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Distal lower limb amyotrophy, Proteinuria, Elevated circulating creatine kinase concentration, Cl...	OMIM:614455
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Urinary incontinenc...	OMIM:617114
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Failure to thrive in infancy, Chronic kidney disease, Tubulointerstitial nephritis, ...	ORPHA:488627
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,...	OMIM:615573
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Autosomal Recessive Spastic Paraplegia Type 77	Neurogenic bladder, Detrusor sphincter dyssynergia, Urinary incontinence, Bilateral cryptorchidis...	ORPHA:466722
Autosomal Dominant Spastic Paraplegia Type 38	Urinary incontinence, Peroneal muscle atrophy, Thenar muscle atrophy, Thenar muscle weakness, Fir...	ORPHA:171617
Macdermot-Winter Syndrome	Camptodactyly of finger, Hydronephrosis, Hypoplastic male external genitalia	OMIM:247990
Spastic Paraplegia 48, Autosomal Recessive	Lower limb muscle weakness, Urinary incontinence	OMIM:613647
Leukodystrophy, Progressive, Early Childhood-Onset	Neurogenic bladder, Joint contracture	OMIM:617762
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos...	OMIM:308990
Sandhoff Disease, Juvenile Form	Skeletal muscle atrophy, Failure to thrive, Limb joint contracture, Urinary incontinence	ORPHA:309162
Adult-Onset Distal Myopathy Due To Vcp Mutation	Back pain, Scapular winging, Abnormality of the musculature of the lower limbs, Urinary incontine...	ORPHA:329478
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E...	ORPHA:228308
Alkaptonuria	Osteoarthritis, Nephrolithiasis, Arthritis, Aminoaciduria, Arthralgia, Thickened Achilles tendon,...	ORPHA:56
Autosomal Dominant Spastic Paraplegia Type 8	Urinary urgency, Lower limb muscle weakness, Urinary incontinence, Peroneal muscle atrophy	ORPHA:100989
Myh9-Related Disease	Renal insufficiency, Proteinuria, Increased mean platelet volume, Giant platelets, Neutrophil inc...	ORPHA:182050
3-Methylglutaconic Aciduria, Type I	Failure to thrive, 3-Methylglutaconic aciduria, Urinary incontinence	OMIM:250950
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Hydroureter, Megacystis	ORPHA:2241
Agammaglobulinemia, X-Linked	Recurrent urinary tract infections, Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent p...	OMIM:300755
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Neurogenic bladder	OMIM:615911
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria	OMIM:613913
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Hypoalbuminemia, Decreased level of coenzyme Q10 in skeletal muscle, Proteinuria	OMIM:614652
Autosomal Recessive Cutis Laxa Type 1	Recurrent urinary tract infections, Recurrent pneumonia, Pyelonephritis, Urethral diverticulum, M...	ORPHA:90349
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Tubulointerstitial nephritis, Enuresis, Abnormality of the kidney, Camptodactyly	ORPHA:459061
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce...	OMIM:611555
Acquired Partial Lipodystrophy	Glomerulopathy, Proteinuria, Myopathy, Arthralgia, Lymphocytosis, Microscopic hematuria	ORPHA:79087
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Bowel incontinence, Enuresis, Vesicouret...	ORPHA:84085
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Hypouricemia, Xanthine nephrolithiasis, Chronic...	ORPHA:3467
Autosomal Recessive Spastic Paraplegia Type 46	Urinary incontinence, Abnormal tendon morphology, Reduced sperm motility, Infertility, Abnormal s...	ORPHA:320391
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Urinary incontinence, Centrally nucleated skeletal muscl...	ORPHA:169189
Focal Segmental Glomerulosclerosis 1	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:603278
Autosomal Recessive Spastic Paraplegia Type 78	Skeletal muscle atrophy, Neurogenic bladder, Facial myokymia	ORPHA:513436
Prune Belly Syndrome	Hydroureter, Cryptorchidism, Xerostomia, Aplasia of the abdominal wall musculature, Congenital po...	OMIM:100100
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit...	ORPHA:2036
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ...	OMIM:245900
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Neurogenic bladder	OMIM:619780
Baralle-Macken Syndrome	Urinary incontinence, Obesity	OMIM:619255
Hardikar Syndrome	Hypoplasia of the bladder, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, ...	OMIM:301068
X-Linked Intellectual Disability, Schimke Type	Hip contracture, Failure to thrive in infancy, Ankle flexion contracture, Elbow flexion contractu...	ORPHA:85285
Autosomal Dominant Spastic Paraplegia Type 4	Urinary urgency, Urinary bladder sphincter dysfunction	ORPHA:100985
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Neurogenic bladder, Multiple joint contractures, Hepatosplenomegaly	ORPHA:466934
Lymphatic Malformation 1	Urethral stricture, Hydrocele testis	OMIM:153100
Glycogen Storage Disease X	Exercise intolerance, Renal insufficiency, Elevated circulating creatine kinase concentration, Rh...	OMIM:261670
Amyotrophic Lateral Sclerosis 5, Juvenile	Distal amyotrophy, Urinary incontinence	OMIM:602099
Autosomal Dominant Spastic Paraplegia Type 12	Urinary incontinence, Bowel incontinence, Lower limb amyotrophy, Urinary urgency, Male sexual dys...	ORPHA:100993
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chi...	OMIM:619858
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria	OMIM:607832
Amyloidosis, Familial Visceral	Proteinuria, Skin rash, Splenomegaly, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Intellectual Developmental Disorder, Autosomal Recessive 70	Urinary incontinence	OMIM:618402
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di...	OMIM:613237
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Xerostomia, Rheumatoid arthritis	OMIM:270150
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Hemorrhagic Fever-Renal Syndrome	Back pain, Anuria, Acute tubulointerstitial nephritis, Hyperhidrosis, Tubulointerstitial nephriti...	ORPHA:340
Paternal Uniparental Disomy Of Chromosome 1	Anhidrosis, Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Obesity, Increa...	ORPHA:251004
Image Syndrome	Hypogonadism, Cryptorchidism, Hypospadias, Hydronephrosis	ORPHA:85173
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Lupus nephritis, Arthritis, Leukopenia, Malar rash, Nephritis, Th...	OMIM:152700
Pelizaeus-Merzbacher Disease In Female Carriers	Neurogenic bladder, Abnormality of the lower urinary tract	ORPHA:280229
Spastic Paraplegia 46, Autosomal Recessive	Infertility, Limb muscle weakness, Lower limb muscle weakness, Urinary incontinence	OMIM:614409
Cog5-Cdg	Neurogenic bladder, Urinary incontinence, Camptodactyly of finger, Cryptorchidism, Hepatosplenome...	ORPHA:263487
Maternal Uniparental Disomy Of Chromosome 4	Neurogenic bladder, Calf muscle pseudohypertrophy, Abetalipoproteinemia, Elevated circulating cre...	ORPHA:96180
Spastic Paraplegia 83, Autosomal Recessive	Urinary urgency	OMIM:619027
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g...	ORPHA:84090
22Q11.2 Duplication Syndrome	Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis	ORPHA:1727
Thyrocerebroretinal Syndrome	Skeletal muscle atrophy, Nephritis, Thrombocytopenia	OMIM:274240
Brain-Lung-Thyroid Syndrome	Hypoparathyroidism, Failure to thrive, Hypospadias, Recurrent pneumonia, Megacystis, Congenital h...	ORPHA:209905
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Renal insufficiency, Proteinuria, Abdominal pain, Hematuria, Microangiopathic he...	ORPHA:54057
Glycogen Storage Disease Xi	Increased serum pyruvate, Exercise intolerance, Renal insufficiency, Elevated circulating creatin...	OMIM:612933
Basal Ganglia Calcification, Idiopathic, 1	Abnormal circulating calcium concentration, Urinary incontinence	OMIM:213600
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Flank pain, Sterile pyu...	ORPHA:91500
Spastic Paraplegia 7, Autosomal Recessive	Urinary incontinence, Urinary urgency, Upper limb muscle weakness, Lower limb hypertonia, Upper l...	OMIM:607259
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Back pain, Renal insufficiency, Hydroureter, Flank pain, Renal hypoplasia, Conge...	OMIM:143400
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Urinary incontinence, Intrinsic hand muscle atrophy, Distal amyotrophy, Wrist drop, Foot dorsifle...	OMIM:616688
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo...	OMIM:609057
Amyotrophic Dystonic Paraplegia	Skeletal muscle atrophy, Urinary incontinence, Bowel incontinence	OMIM:105300
Trisomy 17P	Skeletal muscle atrophy, Hypoplasia of penis, Urethral valve, Urethral stenosis, Flexion contract...	ORPHA:261290
Unilateral Focal Polymicrogyria	Urinary incontinence	ORPHA:268947
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Urinary incontinence	OMIM:620094
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Tubul...	ORPHA:33001
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Small for gestational age, Urinary incontinence, Spinal muscular atrophy, Camptodactyly of finger...	OMIM:604320
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Urinary urgency, Urinary incontinence	OMIM:612319
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Neurogenic bladder	ORPHA:572013
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S...	OMIM:104200
Neuronal Intranuclear Inclusion Disease	Urinary incontinence	OMIM:603472
Spastic Paraplegia 72, Autosomal Recessive	Urinary bladder sphincter dysfunction	OMIM:615625
Dyskeratosis Congenita, Autosomal Dominant 3	Urethral stricture, Pancytopenia, Aplastic anemia, Cryptorchidism, Urethral stenosis, Leukopenia,...	OMIM:613990
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Abdominal colic, F...	ORPHA:976
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Proteinuria, Abdominal pain, Peritonitis, Arthralgia, Renal amyloidosis, Che...	OMIM:134610
Spinocerebellar Ataxia 42	Urinary urgency, Urinary incontinence	OMIM:616795
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Arthritis, Arthralgia, Myalgia, Ches...	ORPHA:375
Isolated Epispadias	Urinary incontinence, Epispadias, Anteriorly displaced urethral meatus, Vesicoureteral reflux, Bi...	ORPHA:93928
Hydrocephalus, Normal-Pressure, 1	Urinary incontinence, Bowel incontinence	OMIM:236690
Interstitial Cystitis	Abnormality of the urethra, Urinary bladder inflammation, Functional abnormality of the bladder, ...	ORPHA:37202
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Renal dysplasia, Recurrent skin infections, Urinary bladder inflammation, Hem...	ORPHA:79403
Peroxisome Biogenesis Disorder 14B	Hydrocele testis, Urinary incontinence	OMIM:614920
Leukodystrophy, Hypomyelinating, 12	Neurogenic bladder, Flexion contracture	OMIM:616683
Spastic Paraplegia 29, Autosomal Dominant	Urinary incontinence, Urinary hesitancy, Urinary urgency, Neonatal hyperbilirubinemia, Nocturia	OMIM:609727
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Urinary incontinence	OMIM:249900
Reni Syndrome	Diffuse mesangial sclerosis, Lymphopenia, Hypertriglyceridemia, Proteinuria, Mesangial hypercellu...	OMIM:617575
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Skeletal muscle atrophy, Fatigue, Dicarboxylic aciduria, ...	ORPHA:42
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Lymphopenia	OMIM:247800
Hereditary Motor And Sensory Neuropathy, Type Iic	Hand muscle atrophy, Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Urina...	OMIM:606071
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Decreased response to...	OMIM:604292
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Schistocytosis, Elevat...	OMIM:274150
Adrenoleukodystrophy	Urinary incontinence, Bowel incontinence, Primary adrenal insufficiency, Impotence, Hypogonadism,...	OMIM:300100
Cholestasis, Progressive Familial Intrahepatic, 12	Proteinuria, Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration...	OMIM:620010
Immunodeficiency 18	Recurrent otitis media, Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
Spastic Paraplegia 15, Autosomal Recessive	Urinary incontinence, Bowel incontinence, Urinary urgency, Distal amyotrophy, Urinary bladder sph...	OMIM:270700
Multicentric Reticulohistiocytosis	Arthritis, Cachexia, Histiocytosis	ORPHA:139436
Syringomyelia, Noncommunicating Isolated	Limb muscle weakness, Urinary incontinence, Neck pain	OMIM:186700
Recessive Dystrophic Epidermolysis Bullosa Inversa	Urethral stricture, Gastrointestinal inflammation, Abnormality of the urinary system, Vaginal str...	ORPHA:79409
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Cachexia, Methylmalo...	ORPHA:1933
Melioidosis	Foot osteomyelitis, Brain abscess, Liver abscess, Lung abscess, Pneumonia, Abnormality of the spl...	ORPHA:31202
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Neurogenic bladder	OMIM:617669
Autosomal Spastic Paraplegia Type 72	Urinary bladder sphincter dysfunction	ORPHA:401849
Megabladder, Congenital	Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease	OMIM:618719
Gitelman Syndrome	Urinary incontinence, Decreased urinary potassium, Hyperhidrosis, Tubulointerstitial nephritis, I...	ORPHA:358
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Agonadism, Hydrone...	OMIM:154230
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Hypergonadotropic hypogonadism, Urinary incontinence	OMIM:617145
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria, Myalgia, Abnormal circulating lipid concentration	ORPHA:225
Orofaciodigital Syndrome Xviii	Urinary incontinence	OMIM:617927
Bardet-Biedl Syndrome 19	Renal insufficiency, External genital hypoplasia, Renal hypoplasia, Obesity, Hypogonadism, Hydron...	OMIM:615996
Congenital Disorder Of Glycosylation, Type Iie	Skeletal muscle atrophy, Neurogenic bladder, Elevated circulating creatine kinase concentration, ...	OMIM:608779
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Skeletal muscle atrophy, Neurogenic bladder, Urinary incontinence, Elevated circulating creatine ...	ORPHA:496641
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Proteinuria, Elevated circulating C-reactive protein concentration, Asplenia, I...	OMIM:614034
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Hypercalcemia, Anemia	ORPHA:2668
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Abnormality of the kidney, Cholangitis, Eosinophilia, Xerostomia, Prostatitis	ORPHA:449432
Glycogen Storage Disease V	Dark urine, Exercise-induced rhabdomyolysis, Exercise intolerance, Elevated circulating creatine ...	OMIM:232600
Pure Autonomic Failure	Anhidrosis, Dysuria, Urinary incontinence, Impotence, Constitutional symptom	ORPHA:441
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome...	ORPHA:567548
Renal Hypoplasia, Bilateral	Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Cryptorchidism, Chronic ...	ORPHA:97362
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Urethrovesical occlusion, Arthrogryposis multiplex congenita, Elevated maternal serum alpha-fetop...	OMIM:226730
Mu-Heavy Chain Disease	Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Weight loss, Nephropathy, Anemia	ORPHA:100024
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria, Camptodactyly of finger, Cachexia	ORPHA:2774
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Machado-Joseph Disease Type 1	Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder	ORPHA:276238
Machado-Joseph Disease Type 2	Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder	ORPHA:276241
Currarino Syndrome	Recurrent urinary tract infections, Neurogenic bladder, Urinary incontinence, Septate vagina, Per...	OMIM:176450
Pediatric Systemic Lupus Erythematosus	Dark urine, Lymphopenia, Renal insufficiency, Myositis, Proteinuria, Skin rash, Abdominal pain, D...	ORPHA:93552
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ...	ORPHA:206549
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Neurogenic bladder, Xerostomia	OMIM:618527
Congenital Nephrotic Syndrome, Finnish Type	Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule...	ORPHA:839
Cednik Syndrome	Hypogonadism, Nephrotic syndrome, Proteinuria	ORPHA:66631
Huntington Disease-Like 3	Flexion contracture, Urinary incontinence, Bowel incontinence	OMIM:604802
Dent Disease 2	Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Nephr...	OMIM:300555
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Impotence, Distal amyotrophy, Urinary incontinence, Foot dorsiflexor weakness	ORPHA:98
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Abnormality of the musculature of the lower limbs, Urinary incontinence, Obesity	ORPHA:464282
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Cryptorchidism, Nephrotic syndrome, Nephropathy, Anemia	ORPHA:1192
Distal 16P11.2 Microdeletion Syndrome	Proteinuria, Abnormality of the kidney, Renal agenesis, Chronic kidney disease, Obesity, Hyperuri...	ORPHA:261222
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom...	OMIM:301006
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Urinary incontinence	OMIM:600795
Autosomal Recessive Spastic Paraplegia Type 76	Functional abnormality of the bladder	ORPHA:488594
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Abdomin...	ORPHA:656
Orthostatic Hypotension 1	Reduced circulating prolactin concentration, Increased blood urea nitrogen, Retrograde ejaculatio...	OMIM:223360
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Urethral stricture, Failure to thrive in infancy, Recurrent pneumonia, Bronchiectasis, Hypohidros...	OMIM:301220
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma...	OMIM:256300
Denys-Drash Syndrome	Proteinuria, Male pseudohermaphroditism, Nephrotic syndrome, Gonadal dysgenesis, Nephropathy, Nep...	ORPHA:220
Galactosemia I	Hemolytic anemia, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Increased leve...	OMIM:230400
Hypouricemia, Renal, 1	Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub...	OMIM:220150
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency, Rhabdomyolysis, Myalgia	OMIM:255110
Galloway-Mowat Syndrome 6	Proteinuria, Decreased response to growth hormone stimulation test, Nephrotic syndrome, Focal seg...	OMIM:618347
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Neutropenia, Hydronephrosis, Thrombocyto...	OMIM:598500
Childhood Disintegrative Disorder	Urinary incontinence, Bowel incontinence	ORPHA:168782
Macs Syndrome	Fatigue, Hypergonadotropic hypogonadism, Cryptorchidism, Urethral stenosis, Bronchiectasis, Recur...	OMIM:613075
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Neurogenic bladder	ORPHA:500144
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Frasier Syndrome	Proteinuria, Male pseudohermaphroditism, Stage 5 chronic kidney disease, Primary amenorrhea, Foca...	OMIM:136680
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopeni...	ORPHA:227990
Dopamine Beta-Hydroxylase Deficiency	Fatigue, Elevated urinary dopamine level, Elevated circulating creatinine concentration, Anemia, ...	ORPHA:230
Glycogen Storage Disease Due To Aldolase A Deficiency	Exercise-induced rhabdomyolysis, Decreased muscle mass, Elevated creatine kinase after exercise, ...	ORPHA:57
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ...	OMIM:235400
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:616730
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydroureter, Hydronephrosis	OMIM:264140
Machado-Joseph Disease Type 3	Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder	ORPHA:276244
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroid...	ORPHA:227982
Renpenning Syndrome	Skeletal muscle atrophy, Hypospadias, Decreased testicular size, Cachexia	ORPHA:3242
Congenital Myopathy 19	Skeletal muscle atrophy, Facial hypotonia, Cryptorchidism, Renal atrophy, Congenital contracture,...	OMIM:618578
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration...	ORPHA:2364
Autosomal Dominant Cutis Laxa	Bladder diverticulum, Bronchiectasis, Unilateral renal agenesis, Pyelonephritis	ORPHA:90348
Wolfram Syndrome 2	Neurogenic bladder, Oligomenorrhea, Primary amenorrhea	OMIM:604928
Dyskeratosis Congenita, Autosomal Dominant 2	Urethral stricture, Pancytopenia, Aplastic anemia, Leukopenia, Neutropenia, Failure to thrive, Th...	OMIM:613989
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5...	OMIM:614377
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Giant cell hepatitis, Proteinuria, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular...	OMIM:613404
Uremic Pruritus	Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec...	ORPHA:94059
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Tubulointerstitial nephritis, ...	ORPHA:289390
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Hypergonadotropic hypogonadism, M...	ORPHA:347
Igg4-Related Ophthalmic Disease	Sinusitis, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Chol...	ORPHA:449563
Acute Intermittent Porphyria	Hyponatremia, Dark urine, Renal insufficiency, Proximal muscle weakness in upper limbs, Back pain...	ORPHA:79276
Glycogen Storage Disease Ixd	Exercise intolerance, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration...	OMIM:300559
Imerslund-Grasbeck Syndrome 1	Microscopic hematuria, Proteinuria, Megaloblastic anemia	OMIM:261100
Adrenomyeloneuropathy	Back pain, Fatigue, Urinary incontinence, Bowel incontinence, Abnormal circulating fatty-acid con...	ORPHA:139399
Myoglobinuria, Autosomal Dominant	Myoglobinuria, Acute kidney injury, Myalgia, Elevated circulating creatine kinase concentration	OMIM:160010
Spinocerebellar Ataxia 17	Urinary incontinence	OMIM:607136
Spastic Paraplegia 44, Autosomal Recessive	Urinary incontinence	OMIM:613206
Spastic Paraplegia 9B, Autosomal Recessive	Skeletal muscle atrophy, Urinary retention, Urinary incontinence, Foot dorsiflexor weakness	OMIM:616586
Hypercalcemia, Infantile, 1	Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc...	OMIM:143880
Combined Oxidative Phosphorylation Deficiency 34	Pancytopenia, Hypergonadotropic hypogonadism, Primary adrenal insufficiency, Elevated circulating...	OMIM:617872
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Proximal muscle weaknes...	ORPHA:352479
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Small for gestational age, Proteinuria, Abnormal T cell morphology, Nephrotic syndrome, Mucopolys...	OMIM:215250
Paganini-Miozzo Syndrome	Hyperalaninemia, Urinary incontinence	OMIM:301025
Neural Tube Defects, Susceptibility To	Urinary incontinence	OMIM:182940
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Unilateral renal agenesis, Renal hypoplasia, Hypohidrosis, Pyelonephritis	OMIM:181270
Immunodeficiency 50	Recurrent urinary tract infections, Lymphopenia, Eczema, Neutropenia	OMIM:300988
Paroxysmal Nocturnal Hemoglobinuria	Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic anemia, Reti...	ORPHA:447
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:617731
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, Proteinu...	ORPHA:63
Intermediate Uveitis	Optic neuritis, Tubulointerstitial nephritis, Psoriasiform dermatitis, Anterior uveitis	ORPHA:279914
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Skeletal muscle atrophy, Fatigue, Exercise intolerance, Recurrent myoglobinuria, Elev...	ORPHA:368
Multicentric Carpotarsal Osteolysis Syndrome	Renal insufficiency, Proteinuria, Congenital diaphragmatic hernia, Stage 5 chronic kidney disease...	OMIM:166300
Imerslund-Grasbeck Syndrome 2	Proteinuria, Megaloblastic anemia	OMIM:618882
Spastic Paraplegia 31, Autosomal Dominant	Urinary urgency	OMIM:610250
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:603909
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil...	OMIM:614527
Neuropathy, Hereditary Sensory And Autonomic, Type V	Anhidrosis, Low back pain, Osteomyelitis, Urinary incontinence, Osteoarthritis, Septic arthritis	OMIM:608654
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, S...	OMIM:301050
8P23.1 Duplication Syndrome	Adrenal insufficiency, Hydronephrosis	ORPHA:251076
Posterior Column Ataxia With Retinitis Pigmentosa	Skeletal muscle atrophy, Recurrent urinary tract infections, Flexion contracture of finger, Urina...	OMIM:609033
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Acute rhabdomyolysis, Elevated circulating creatine kinase concentration, Hyperkalemia, Myalgia, ...	OMIM:268200
Huntington Disease-Like 3	Flexion contracture, Urinary incontinence, Bowel incontinence	ORPHA:157946
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Neurogenic bladder, Hyperthyroidism, Decreased response to growth hormon...	ORPHA:488632
Fanconi Anemia, Complementation Group O	External genital hypoplasia, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Small th...	OMIM:613390
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Urinary incontinence	OMIM:221770
Cat-Eye Syndrome	Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia	ORPHA:195
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Hydro...	ORPHA:2473
Galactose Epimerase Deficiency	Splenomegaly, Aminoaciduria, Weight loss	ORPHA:79238
Glycogen Storage Disease Vii	Exercise intolerance, Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase con...	OMIM:232800
Spastic Paraplegia 54, Autosomal Recessive	Urinary incontinence, Bowel incontinence, Distal lower limb muscle weakness, Lower limb muscle we...	OMIM:615033
Aredyld Syndrome	Splenomegaly, Abnormality of the ureter, Cachexia	ORPHA:1133
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Hypogonadotropic hypogonadism, Abnormality of the urethra, Cryptorchidism, Male pseudohermaphrodi...	ORPHA:752
Nephrotic Syndrome, Type 22	Nephrotic range proteinuria, Podocyte foot process effacement, Stage 5 chronic kidney disease, Th...	OMIM:619155
Aa Amyloidosis	Proteinuria, Abnormality of the kidney, Abdominal pain, Chronic kidney disease, Nephrotic syndrom...	ORPHA:85445
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Abnormal blood ion concentration, Renal cyst, Gastrointestinal inflammation, ...	ORPHA:79404
Pulmonary Blastoma	Chest pain, Recurrent pneumonia, Weight loss	ORPHA:64741
Parkinsonian-Pyramidal Syndrome	Neurogenic bladder, Hypomimic face	ORPHA:171695
Lateral Meningocele Syndrome	Cryptorchidism, Neurogenic bladder, Decreased muscle mass	OMIM:130720
Phosphoglycerate Kinase 1 Deficiency	Exercise intolerance, Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced my...	OMIM:300653
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome	Urinary urgency	OMIM:618878
Chiari Malformation Type I	Limb muscle weakness, Urinary incontinence, Neck pain	OMIM:118420
Silver-Russell Syndrome	Abnormality of male external genitalia, Decreased muscle mass, Hypospadias, Failure to thrive in ...	ORPHA:813
Malakoplakia	Inflammatory abnormality of the skin, Proteinuria, Dysuria, Skin rash, Abnormality of the menstru...	ORPHA:556
Neuroleptic Malignant Syndrome	Hyponatremia, Fatigue, Rigors, Proteinuria, Elevated circulating creatine kinase concentration, U...	ORPHA:94093
Cocaine Intoxication	Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Abdominal pa...	ORPHA:90068
Fragile X Tremor/Ataxia Syndrome	Premature ovarian insufficiency, Urinary incontinence, Bowel incontinence, Impotence, Myalgia, Hy...	OMIM:300623
Cryptococcosis	Osteomyelitis, Lymphoid leukemia, Pneumonia, Peritonitis, Chest pain, Limb muscle weakness, Prost...	ORPHA:1546
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased...	OMIM:620085
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Urinary incontinence, Bowel incontinence	OMIM:618868
Cockayne Syndrome	Anhidrosis, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilatera...	ORPHA:191
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Exercise intolerance, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration...	OMIM:620138
Exstrophy-Epispadias Complex	Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera...	ORPHA:322
Papa Syndrome	Fatigue, Increased inflammatory response, Myositis, Proteinuria, Acne, Pustule, Arthritis, Arthra...	ORPHA:69126
Simple Cryoglobulinemia	Fatigue, Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinu...	ORPHA:91139
Attrv30M Amyloidosis	Nephropathy, Impotence, Abnormal renal physiology, Weight loss	ORPHA:85447
Spinocerebellar Ataxia Type 42	Urinary urgency, Impotence, Psoriasiform dermatitis, Urinary incontinence	ORPHA:458803
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho...	OMIM:618913
Spondylocostal Dysostosis 4, Autosomal Recessive	Neurogenic bladder	OMIM:613686
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro...	OMIM:618348
Porphyria, Acute Intermittent	Dysuria, Urinary incontinence, Abdominal pain, Urinary retention, Elevated urinary delta-aminolev...	OMIM:176000
Free Sialic Acid Storage Disease	Proteinuria, Failure to thrive in infancy, Splenomegaly, Aplasia/Hypoplasia of the abdominal wall...	ORPHA:834
Pseudo-Torch Syndrome 3	Proteinuria, Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Acute kid...	OMIM:618886
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal a...	ORPHA:90324
Mucopolysaccharidosis-Plus Syndrome	Proteinuria, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Flexion contracture, Neutropeni...	OMIM:617303
Igg4-Related Aortitis	Increased inflammatory response, Low back pain, Elevated circulating C-reactive protein concentra...	ORPHA:449400
Camptobrachydactyly	Congenital finger flexion contractures, Urinary incontinence, Septate vagina	OMIM:114150
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Proteinuria, Abnormality of the kidney, Hyperlipidemia, Postexertional symptom exacerbation, Fail...	ORPHA:369
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Urinary incontinence, Cachexia, Upper-limb joint contracture, Distal amy...	ORPHA:300605
Vesicoureteral Reflux 3	Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Hydroureter, Grade III vesico...	OMIM:613674
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis	OMIM:235760
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Renal insufficiency, Hemolytic anemia, Reticulocytosis, Rhabd...	ORPHA:713
Indifference To Pain, Congenital, Autosomal Recessive	Anhidrosis, Urinary incontinence, Hypohidrosis	OMIM:243000
Oligomeganephronia	Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Congenita...	ORPHA:2260
Dent Disease	Elevated circulating creatine kinase concentration, Bone pain, Nephrocalcinosis, Aminoaciduria, L...	ORPHA:1652
Spinocerebellar Ataxia 10	Urinary urgency, Urinary incontinence	OMIM:603516
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Urinary incontinence, Iron deficiency anemia, Decreased ...	OMIM:618885
Genetic Recurrent Myoglobinuria	Dark urine, Proximal muscle weakness in upper limbs, Renal insufficiency, Myositis, Recurrent myo...	ORPHA:99845
Williams-Beuren Region Duplication Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Unilateral rena...	OMIM:609757
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Abdominal pain, Xerostomia, Nephro...	OMIM:617321
Orofaciodigital Syndrome Xv	Hydronephrosis	OMIM:617127
Sandhoff Disease	Skeletal muscle atrophy, Urinary incontinence, Hypohidrosis, Hyperhidrosis, Macroglossia, Impoten...	OMIM:268800
Cryoglobulinemic Vasculitis	Glomerulopathy, Renal insufficiency, Viral hepatitis, Proteinuria, Abdominal pain, Splenomegaly, ...	ORPHA:91138
Central Diabetes Insipidus	Hyponatremia, Failure to thrive, Nocturia, Weight loss	ORPHA:178029
Spinocerebellar Ataxia Type 19/22	Urinary incontinence	ORPHA:98772
Split Cord Malformation	Back pain, Low back pain, Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphinct...	ORPHA:573278
Legionnaires Disease	Hyponatremia, Fatigue, Renal insufficiency, Pericarditis, Proteinuria, Abdominal pain, Myocarditi...	ORPHA:549
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Proteinuria, Cryptorchidism, Multiple bladder diverticula, Recurrent otitis media	ORPHA:2728
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia	ORPHA:1216
Cystinosis	Fatigue, Renal insufficiency, Proteinuria, Renal tubular dysfunction, Myopathy, Hypokalemia, Amin...	ORPHA:213
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Cachexia, Abdominal pain, Ragged-red muscle fibers, Weight loss, Slender build	OMIM:613662
Diffuse Alveolar Hemorrhage	Proteinuria, Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Weigh...	ORPHA:90060
Intellectual Developmental Disorder, Autosomal Dominant 42	Neurogenic bladder, Congenital hypothyroidism, Ureteropelvic junction obstruction, Failure to thr...	OMIM:616973
Cockayne Syndrome Type 1	Renal insufficiency, Proteinuria, Foot joint contracture, Cryptorchidism, Uveitis, Hypohidrosis, ...	ORPHA:90321
Coenzyme Q10 Deficiency, Primary, 1	Fatigue, Pancytopenia, Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase...	OMIM:607426
Charcot-Marie-Tooth Disease Type 1F	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Distal lower limb amyotrophy, Pro...	ORPHA:101085
Marchiafava-Bignami Disease	Facial palsy, Urinary incontinence, Limb hypertonia	ORPHA:221074
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab...	OMIM:123550
Idiopathic Achalasia	Chest pain, Decreased prealbumin level, Recurrent aspiration pneumonia, Weight loss	ORPHA:930
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydroureter, Hydronephrosis	OMIM:618240
Xfe Progeroid Syndrome	Renal insufficiency, Premature ovarian insufficiency, Proteinuria, Cachexia, Hypoalbuminemia, Fai...	OMIM:610965
Wieacker-Wolff Syndrome, Female-Restricted	Hip contracture, Facial palsy, Urinary incontinence, Achilles tendon contracture, Flexion contrac...	OMIM:301041
Sarcoidosis	Increased T cell count, Uveitis, Nephrocalcinosis, Tubulointerstitial nephritis, Leukopenia, Hypo...	ORPHA:797
Mitochondrial Membrane Protein-Associated Neurodegeneration	Urinary incontinence, Bowel incontinence	ORPHA:289560
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Proximal renal tubular a...	OMIM:146255
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Bone pain, Generalized aminoaciduria, Hypercalciuria, Renal pho...	OMIM:613388
Transcobalamin Deficiency	Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop...	ORPHA:859
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Low back pain, Urinary incontinence, Bowel incontinence	OMIM:600142
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis	OMIM:619428
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Exercise-induced rhabdomyolysis, Superficial dermal...	ORPHA:284426
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Vesicoureteral reflux, Arthrogryposis multiplex congenita, Hydronephrosis, Decreased body weight	OMIM:618265
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Skeletal muscle atrophy, Urinary incontinence, Bowel incontinence, Flexion contracture, Decreased...	OMIM:300243
Immunoneurologic Disorder, X-Linked	Functional abnormality of the bladder	OMIM:300076
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Proteinuria, Hypouricemia, Large for gestational age, Nephrocalcinosis, Glycos...	OMIM:616026
Ring Chromosome 10 Syndrome	Hypocalcemia, Cachexia, Renal hypoplasia/aplasia	ORPHA:1438
Plasminogen Deficiency, Type I	Decreased level of plasminogen, Nephrolithiasis, Conjunctivitis, Periodontitis, Nephritis	OMIM:217090
19Q13.11 Microdeletion Syndrome	Bifid scrotum, Hypospadias, Cachexia, Cryptorchidism, Failure to thrive	ORPHA:217346
Schimke Immuno-Osseous Dysplasia	Lymphopenia, Failure to thrive, Proteinuria, Abnormality of thyroid physiology, Small for gestati...	ORPHA:1830
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Cryptorchidism, Hydronephrosis	OMIM:619797
Systemic Capillary Leak Syndrome	Fatigue, Renal insufficiency, Pericarditis, Abdominal pain, Myocarditis, Leukocytosis, Oliguria, ...	ORPHA:188
6P22 Microdeletion Syndrome	Hydronephrosis	ORPHA:251046
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased muscle mass, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, A...	ORPHA:298
Spinocerebellar Ataxia Type 13	Urinary urgency, Torticollis, Urinary incontinence	ORPHA:98768
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Congenital hypothyroidi...	OMIM:619609
Insulin-Resistance Syndrome Type B	Fatigue, Enlarged ovaries, Decreased body weight, Proteinuria, Pneumonia, Skin rash, Abnormality ...	ORPHA:2298
Renal Nutcracker Syndrome	Fatigue, Dyspareunia, Proteinuria, Dysmenorrhea, Abdominal pain, Flank pain, Vulval varicose vein...	ORPHA:71273
Spastic Paraplegia 9A, Autosomal Dominant	Urinary urgency, Generalized amyotrophy, Urinary incontinence	OMIM:601162
Penoscrotal Transposition	Hypospadias, Renal agenesis, Abnormal external genitalia, Abnormality of the urethra, Penoscrotal...	ORPHA:2842
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Exercise intolerance, Cholangitis, Ragged-red muscle fibers, Rhabdomyolysis, La...	OMIM:124000
Becker Muscular Dystrophy	Exercise intolerance, Abnormal urinary color, Skeletal muscle atrophy, Fatigue, Elevated circulat...	ORPHA:98895
Intellectual Developmental Disorder, X-Linked 90	Enuresis	OMIM:300850
Renal Cysts And Diabetes Syndrome	Renal cyst, Atretic vas deferens, Hypospadias, Abnormality of the kidney, Elevated circulating cr...	OMIM:137920
Desmoid Tumor	Abnormality of the upper urinary tract, Abdominal pain, Arthralgia, Myalgia, Chest pain, Hydronep...	ORPHA:873
Spinocerebellar Ataxia 2	Distal amyotrophy, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:183090
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Foot join...	ORPHA:79408
Joubert Syndrome 35	Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis	OMIM:618161
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d...	OMIM:617730
Renal Glucosuria	Glycosuria, Polyuria, Enuresis nocturna	OMIM:233100
Multiple System Atrophy 1, Susceptibility To	Anhidrosis, Skeletal muscle atrophy, Urinary incontinence, Hypohidrosis, Urinary urgency, Impotence	OMIM:146500
Moynahan Syndrome	Hypogonadism, Cachexia	ORPHA:2574
Adult Krabbe Disease	Upper limb muscle weakness, Lower limb muscle weakness, Urinary incontinence, Erectile dysfunction	ORPHA:206448
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Flexion contracture, Myopathy, Cachexia	ORPHA:157973
Neuraminidase Deficiency	Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marr...	OMIM:256550
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia,...	ORPHA:2973
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Gout, Focal se...	OMIM:617056
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Episodic hyperhidrosis, Elevated circulating creatinine concentration, Increased blood urea nitro...	OMIM:223900
Dyskeratosis Congenita	Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Urethral stenosis, Hyperhidrosis, Per...	ORPHA:1775
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Angular cheilitis, Megaloblastic a...	ORPHA:35858
Autosomal Dominant Spastic Paraplegia Type 9A	Low back pain, Urinary incontinence, Urinary urgency, Pollakisuria, Lower limb hypertonia, Lower ...	ORPHA:447753
Amyotrophic Lateral Sclerosis 2, Juvenile	Hand muscle atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Limb joint contractur...	OMIM:205100
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Urinary incontinence, Limb hypertonia	OMIM:620070
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Hypospadias, Phimosis, Cryptorchidism, Thrombocytopenia, Ur...	OMIM:305000
Sacral Defect With Anterior Meningocele	Back pain, Rectal abscess, Neurogenic bladder, Urinary retention	OMIM:600145
Juvenile Nephropathic Cystinosis	Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem...	ORPHA:411634
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Chilblain...	OMIM:619487
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Idiopathic Bronchiectasis	Cachexia, Bronchiectasis, Acute infectious pneumonia, Chest pain, Halitosis	ORPHA:60033
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Bone pain, Stage 5 chronic kidney...	OMIM:300009
Igg4-Related Dacryoadenitis And Sialadenitis	Fatigue, Myositis, Xerostomia, Thyroiditis, Weight loss, Tubulointerstitial nephritis, Keratoconj...	ORPHA:79078
Glycogen Storage Disease Ii	Exercise intolerance, Increased circulating NT-proBNP concentration, Urinary incontinence, Elevat...	OMIM:232300
Rhabdoid Tumor	Renal neoplasm, Hypercalcemia, Abdominal pain, Thrombocytopenia, Weight loss, Hematuria, Anemia	ORPHA:69077
Goodpasture Syndrome	Fatigue, Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria...	OMIM:233450
Renal Agenesis	Renal insufficiency, Absent vas deferens, Renal agenesis, Proteinuria, Unilateral renal agenesis,...	ORPHA:411709
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Increased serum pyruvate, Renal insufficiency, Small for gestational age, Hypochromic microcytic ...	OMIM:619147
Holocarboxylase Synthetase Deficiency	Eczema, Hyperammonemia, Keratoconjunctivitis, Weight loss, Organic aciduria, Thrombocytopenia, Pe...	ORPHA:79242
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Mcdonough Syndrome	Cryptorchidism, Aplasia/Hypoplasia of the abdominal wall musculature, Cachexia	ORPHA:2471
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis	OMIM:610205
Sporadic Pheochromocytoma/Secreting Paraganglioma	Fatigue, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Episodic hyperhidrosi...	ORPHA:276621
Frontometaphyseal Dysplasia 2	Hip contracture, Neurogenic bladder, Decreased muscle mass, Elbow contracture, Cryptorchidism, Ul...	OMIM:617137
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Skeletal muscle atrophy, Urinary incontinence, Elevated circulating creatine kinase concentration...	OMIM:617193
Whipple Disease	Hyponatremia, Fatigue, Myositis, Pericarditis, Cachexia, Abdominal pain, Myocarditis, Splenomegal...	ORPHA:3452
Xanthinuria, Type Ii	Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin...	OMIM:603592
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity	Distal amyotrophy, Urinary incontinence	ORPHA:352641
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Abdominal pain, Spleno...	ORPHA:36412
Riboflavin Transporter Deficiency	Skeletal muscle atrophy, Facial palsy, Cachexia, Hypogonadism, Limb muscle weakness	ORPHA:97229
Joubert Syndrome 37	Cryptorchidism, Obesity, Hydronephrosis, Micropenis, Decreased testicular size	OMIM:619185
Capillary Malformation-Arteriovenous Malformation	Neurogenic bladder, Abnormality of the musculature of the limbs	ORPHA:137667
Brain Malformations With Or Without Urinary Tract Defects	Vesicoureteral reflux, Failure to thrive, Renal hypoplasia, Hydronephrosis	OMIM:613735
Opitz Gbbb Syndrome	Hypospadias, Rectourethral fistula, Cryptorchidism, Congenital posterior urethral valve, Vesicour...	OMIM:300000
Spinocerebellar Ataxia Type 8	Impotence, Urinary incontinence	ORPHA:98760
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Hypercalciuria, Generalized aminoaciduri...	OMIM:227810
Oculodentodigital Dysplasia	Neurogenic bladder, Camptodactyly of finger	ORPHA:2710
Autosomal Recessive Ataxia, Beauce Type	Skeletal muscle atrophy, Lower limb muscle weakness, Urinary incontinence	ORPHA:88644
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-...	OMIM:615605
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Urinary incontinence	ORPHA:98784
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia...	OMIM:277400
Oculodentodigital Dysplasia	Neurogenic bladder, Joint contracture of the 5th finger, Uveitis	OMIM:164200
Frontometaphyseal Dysplasia	Interphalangeal joint contracture of finger, Hypoplasia of the musculature, Ureteral obstruction,...	ORPHA:1826
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Hypospadias, Elevated circulating creatine kinase concentration, Sm...	OMIM:301056
Ketamine-Induced Biliary Dilatation	Dysuria	ORPHA:293807
X-Linked Immunoneurologic Disorder	Functional abnormality of the bladder	ORPHA:2571
Wild Type Attr Amyloidosis	Renal insufficiency, Proteinuria, Bowel incontinence, Weight loss, Nephrotic syndrome, Nephropathy	ORPHA:330001
Congenital Disorder Of Glycosylation, Type Iif	Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Thrombocytopenia	OMIM:603585
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Skeletal muscle steatosis, Renal tubular dysfunction, Aminoacidur...	ORPHA:436271
Generalized Pustular Psoriasis	Hyponatremia, Fatigue, Renal insufficiency, Elevated circulating C-reactive protein concentration...	ORPHA:247353
Endove Syndrome, Limb-Only Type	Vesicoureteral reflux, Hypoplastic labia majora, Hydronephrosis	OMIM:619217
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Flexion contracture of fin...	ORPHA:466768
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Elevated circulating creatine kinase concentration, Calf muscle hypertrophy, Myopathy, Pelvic gir...	ORPHA:119
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Renal hypoplasia/aplasia, Vesico...	ORPHA:107
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Urinary incontinence	OMIM:125310
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ...	ORPHA:158684
Encephalitis Lethargica	Urinary incontinence, Bowel incontinence, Upper limb muscle weakness, Limb pain, Myalgia	ORPHA:83600
Diabetic Embryopathy	Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Aplasia/Hypoplasia of the abdomin...	ORPHA:1926
Metachromatic Leukodystrophy	Urinary incontinence, Cholecystitis	OMIM:250100
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Stress urinary incontinence	ORPHA:136
Non-Functioning Paraganglioma	Fatigue, Hypercalcemia, Elevated urinary norepinephrine level, Episodic hyperhidrosis, Elevated u...	ORPHA:94080
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Aapoaiv Amyloidosis	Back pain, Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, H...	ORPHA:439232
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Brain abscess, Urinary incontinence, Bowel incontinence, Irregular menstruation, Uterine leiomyom...	OMIM:616482
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Cryptorchidism, Hydronephrosis	OMIM:618060
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Exercise intolerance, Elevated circulating creatine kinase concentration, Elevated circulating ac...	ORPHA:228305
Cystinosis, Nephropathic	Skeletal muscle atrophy, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria,...	OMIM:219800
Non-Syndromic Posterior Hypospadias	Bifid scrotum, Small for gestational age, Congenital diaphragmatic hernia, Ventral shortening of ...	ORPHA:95706
Johanson-Blizzard Syndrome	Hypoplasia of penis, Failure to thrive, Hypospadias, Abnormal vagina morphology, Abnormality of t...	ORPHA:2315
Meier-Gorlin Syndrome 7	Urethral stricture, Hypospadias, Cryptorchidism, Decreased body weight, Vesicoureteral reflux, Mi...	OMIM:617063
Schimke Immunoosseous Dysplasia	Renal insufficiency, Pancytopenia, Proteinuria, Small for gestational age, Bilateral cryptorchidi...	OMIM:242900
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Failure to thrive, St...	OMIM:308940
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Exercise intolerance, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, R...	OMIM:220110
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Gout, Hyperuricosuri...	ORPHA:79233
Al Amyloidosis	Fatigue, Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Abnorma...	ORPHA:85443
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Ketonuria, Elevated circulating creatine kinase concentration, Lower limb muscle weakness, Microc...	OMIM:251900
Pelizaeus-Merzbacher Disease	Abnormality of the urinary system, Failure to thrive in infancy, Cachexia, Bowel incontinence	ORPHA:702
Solitary Fibrous Tumor	Fatigue, Low back pain, Vaginal neoplasm, Reduced C-peptide level, Night sweats, Weight loss, Uri...	ORPHA:2126
Cranioectodermal Dysplasia 1	Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tubulointerstiti...	OMIM:218330
Spastic Paraplegia 89, Autosomal Recessive	Functional abnormality of the bladder	OMIM:620379
Recombinant Chromosome 8 Syndrome	Cryptorchidism, Joint contracture of the hand, Hydronephrosis, Camptodactyly	OMIM:179613
Myopathy With Lactic Acidosis, Hereditary	Exercise intolerance, Skeletal muscle atrophy, Sideroblastic anemia, Elevated circulating creatin...	OMIM:255125
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Cachexia, Renal salt wasting, Abdominal pain, Bone-marrow foa...	ORPHA:275761
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Bladder diverticulum	OMIM:617821
Bardet-Biedl Syndrome 12	Hydroureter, Hydrometrocolpos, Obesity, Cystic renal dysplasia, Hypogonadism, Vaginal atresia, Hy...	OMIM:615989
Kindler Epidermolysis Bullosa	Urethral stricture, Recurrent skin infections, Camptodactyly of finger, Phimosis, Flexion contrac...	ORPHA:2908
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Hydroureter, Fetal megacystis	OMIM:249210
Mulibrey Nanism	Cachexia	ORPHA:2576
Kindler Syndrome	Urethral stenosis, Periodontitis, Phimosis	OMIM:173650
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Recurrent urinary tract infections, Intermittent thrombocytopenia, Perianal abscess,...	OMIM:612541
Vacterl/Vater Association	Bifid scrotum, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Co...	ORPHA:887
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Camptodactyly of finger, Cachexia, Obesity, Hyperhidrosis, Hypogonadism, Dec...	ORPHA:85293
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Chronic kidney disease, Bone pain, Nephrolithiasis, Hypercalciuria, Hypophos...	OMIM:300554
Amyloidosis, Hereditary, Transthyretin-Related	Impotence, Urinary incontinence	OMIM:105210
Renal Hypodysplasia/Aplasia 1	Proteinuria, Primary amenorrhea, Bicornuate uterus, Bilateral renal agenesis, Vaginal atresia, Re...	OMIM:191830
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Small scrotum, Camptodactyly of finger, Cryptorchidism, Hydronephrosis	ORPHA:2083
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Fatigue, Proteinuria, Large for gestational age, Abnormal circulating fatty-acid concentration, I...	ORPHA:263455
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality...	ORPHA:1834
Netherton Syndrome	Skin rash, Eczema, Ectopic kidney, Aminoaciduria, Erythroderma, Hydronephrosis	ORPHA:634
Primary Fanconi Renotubular Syndrome	Low-molecular-weight proteinuria, Bone pain, Hypouricemia, Increased urinary potassium, Chronic k...	ORPHA:3337
Acute Monoblastic/Monocytic Leukemia	Fatigue, Acute monocytic leukemia, Leukocytosis, Oliguria, Weight loss, Central hypothyroidism, L...	ORPHA:514
Glycogen Storage Disease Ib	Proteinuria, Splenomegaly, Hyperlipidemia, Nephrolithiasis, Gout, Focal segmental glomerulosclero...	OMIM:232220
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Abdominal pain, Elevated urinary dopamine level, Bone pain,...	OMIM:256700
Childhood Absence Epilepsy	Urinary incontinence	ORPHA:64280
Erdheim-Chester Disease	Fatigue, Renal insufficiency, Osteomyelitis, Hypogonadotropic hypogonadism, Dysuria, Skin rash, A...	ORPHA:35687
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Hydronephrosis, Increased mean platelet volume	OMIM:300048
Igg4-Related Pachymeningitis	Low back pain, Sinusitis, Lower limb muscle weakness, Elevated circulating C-reactive protein con...	ORPHA:449427
Small Cell Carcinoma Of The Bladder	Hematuria, Recurrent urinary tract infections, Dysuria	ORPHA:284400
Ectodermal Dysplasia-Skin Fragility Syndrome	Urethral stricture, Chapped lip, Recurrent skin infections, Recurrent pneumonia, Cheilitis, Hypoh...	ORPHA:158668
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Dyspepsia, Failure to thrive, Proteinuria, Vaginal neoplasm, Keratitis, Chronic kidney disease, S...	ORPHA:1018
Glycogen Storage Disease Ia	Decreased muscle mass, Proteinuria, Hyperlipidemia, Nephrolithiasis, Gout, Focal segmental glomer...	OMIM:232200
Intellectual Developmental Disorder, X-Linked 98	Steroid-dependent nephrotic syndrome, Urinary incontinence, Central hypothyroidism, Failure to th...	OMIM:300912
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Urinary incontinence, Bowel incontinence	OMIM:618877
Monosomy 22Q13.3	Recurrent skin infections, Obesity, Hypohidrosis, Hydronephrosis, Vesicoureteral reflux, Recurren...	ORPHA:48652
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Osteootohepatoenteric Syndrome	Proteinuria, Abdominal pain, Grade II vesicoureteral reflux, Weight loss, Hypokalemia, Increased ...	OMIM:619377
Sporadic Infantile Bilateral Striatal Necrosis	Urinary incontinence, Hypomimic face	ORPHA:225147
Christianson Syndrome	Arthrogryposis multiplex congenita, Decreased muscle mass, Cachexia	ORPHA:85278
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Fatigue, Skeletal muscle atrophy, Exercise intolerance, Hypertriglyceridemia, Elevated circulatin...	ORPHA:79240
Primary Myelofibrosis	Fatigue, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Flank pain, Leukocytosis, Thromboc...	ORPHA:824
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C...	OMIM:619802
Metachromatic Leukodystrophy, Late Infantile Form	Urinary incontinence, Cholecystitis	ORPHA:309256
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Renal insufficiency, Hypospadias, Urethral valve, Abnormality...	ORPHA:857
Parkinson Disease 6, Autosomal Recessive Early-Onset	Urinary urgency	OMIM:605909
Williams-Beuren Syndrome	Renal insufficiency, Recurrent urinary tract infections, Failure to thrive in infancy, Hypercalce...	OMIM:194050
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Hypoparathyroidism, Renal insufficiency, Psoriasiform dermatitis, Unilateral ren...	ORPHA:2237
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase ...	OMIM:608836
Pyomyositis	Recurrent cutaneous abscess formation, Renal insufficiency, Myositis, Sudden cardiac death, Leuko...	ORPHA:764
Glucose-Galactose Malabsorption	Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H...	ORPHA:35710
Ddost-Cdg	Failure to thrive, Nephrotic range proteinuria, Primary hypothyroidism	ORPHA:300536
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ...	ORPHA:93598
Familial Mediterranean Fever	Pericarditis, Proteinuria, Skin rash, Abdominal pain, Orchitis, Splenomegaly, Osteoarthritis, Per...	ORPHA:342
Isolated Congenital Hypoglossia/Aglossia	Aspiration pneumonia, Weight loss	ORPHA:141152
Nail-Patella Syndrome	Back pain, Renal insufficiency, Decreased muscle mass, Proteinuria, Abnormality of the kidney, Kn...	ORPHA:2614
Metachromatic Leukodystrophy, Juvenile Form	Urinary incontinence, Cholecystitis	ORPHA:309263
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Hydronephrosis	OMIM:607598
Donnai-Barrow Syndrome	Bicornuate uterus, Proteinuria, Abnormality of the uterus, Congenital diaphragmatic hernia	ORPHA:2143
Distal Duplication 6P	Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia	ORPHA:1745
Hereditary Pheochromocytoma-Paraganglioma	Fatigue, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Episodic hyperhidrosi...	ORPHA:29072
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Failure to thrive, Hypospadias, Cryptorchidism, Horseshoe kidney, Congenital posterior urethral v...	OMIM:620083
Tetraploidy	Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:3305
Primary Progressive Freezing Gait	Urinary incontinence	ORPHA:75567
Trisomy 13	Cryptorchidism, Abnormality of the ureter, Multiple renal cysts, Displacement of the urethral mea...	ORPHA:3378
Mitochondrial Trifunctional Protein Deficiency 1	Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati...	OMIM:609015
Toluene Embryopathy	Cryptorchidism, Hydronephrosis, Abnormal localization of kidney	ORPHA:1920
Suleiman-El-Hattab Syndrome	Cryptorchidism, Failure to thrive, Hydronephrosis	OMIM:618950
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Night sweats, Imbalanced he...	ORPHA:99867
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hypothyroidism, Tubulointer...	ORPHA:79259
Developmental Delay, Language Impairment, And Ocular Abnormalities	Contracture of the proximal interphalangeal joint of the 5th finger, Hydronephrosis	OMIM:620141
Postinfectious Vasculitis	Elevated circulating C-reactive protein concentration, Gastrointestinal inflammation, Arthralgia,...	ORPHA:48435
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Failure to thrive, Hypercalcemia	ORPHA:476126
Myoglobinuria, Recurrent	Ragged-red muscle fibers, Recurrent myoglobinuria, Exercise-induced myoglobinuria	OMIM:550500
Acute Promyelocytic Leukemia	Fatigue, Pancytopenia, Metrorrhagia, Abdominal pain, Thrombocytopenia, Leukocytosis, Bone pain, W...	ORPHA:520
Williams Syndrome	Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tubulointerstit...	ORPHA:904
Paroxysmal Cold Hemoglobinuria	Back pain, Abnormal urinary color, Autoimmune hemolytic anemia, Hemoglobinuria, Coombs-positive h...	ORPHA:90035
Mantle Cell Lymphoma	Fatigue, Splenomegaly, Weight loss	ORPHA:52416
X-Linked Intellectual Disability Due To Gria3 Mutations	Facial hypotonia, Cryptorchidism, Micropenis, Abnormality of muscle size, Slender build, Hydronep...	ORPHA:364028
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral...	ORPHA:391641
Distal Triplication 15Q	Abnormal external genitalia, Abnormality of the kidney, Large for gestational age, Flexion contra...	ORPHA:314588
Distal Limb Deficiencies-Micrognathia Syndrome	Cryptorchidism, Renal insufficiency, Proteinuria, Renal hypoplasia	ORPHA:1307
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kidney, Elevated circulating C-rea...	ORPHA:54251
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Proteinuria, Pneumonia, Skin rash, Weakness of facial musculature, Elevated ci...	ORPHA:247691
Autosomal Recessive Spastic Paraplegia Type 35	Urinary incontinence, Bowel incontinence, Enuresis nocturna, Pollakisuria, Lower limb hypertonia,...	ORPHA:171629
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Acquired Central Diabetes Insipidus	Pollakisuria, Weight loss	ORPHA:95626
Spinocerebellar Ataxia Type 25	Urinary urgency	ORPHA:101111
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Hip contracture, Facial hypotonia, Failure to thrive in infancy, Cachexia	OMIM:616801
Ritscher-Schinzel Syndrome 1	Hypospadias, Hydronephrosis, Decreased response to growth hormone stimulation test	OMIM:220210
Fabry Disease	Renal insufficiency, Proteinuria, Abdominal pain, Hypohidrosis, Urinary mulberry cells, Anemia, L...	OMIM:301500
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:254900
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl...	OMIM:617514
Cystic Echinococcosis	Fatigue, Eosinophilia, Abnormality of the testis size, Abscess, Renal cyst, Weight loss, Membrano...	ORPHA:400
Malignant Hyperthermia, Susceptibility To, 1	Elevated circulating creatine kinase concentration, Rhabdomyolysis, Hyperkalemia, Hyperphosphatem...	OMIM:145600
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Small for gestational age, Conjugated hyperbilirubinemia, Hyperammo...	OMIM:617093
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Fatigue, Skeletal muscle atrophy, Exercise intolerance, Hypertriglyceridemia, Elevated circulatin...	ORPHA:264580
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Fatigue, Minimal change glomerulonephritis, Abdominal pain, Hyperlipidemia, Chronic kidney diseas...	ORPHA:567546
Acute Transverse Myelitis	Back pain, Fatigue, Decreased circulating copper concentration, Urinary incontinence, Abscess, Up...	ORPHA:139417
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis	OMIM:602418
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Recurrent otitis media, Hydronephrosis	OMIM:618494
Arachnoid Cyst	Back pain, Facial palsy, Urinary incontinence, Abdominal pain, Sciatica, Urinary bladder sphincte...	ORPHA:2356
Isolated Succinate-Coq Reductase Deficiency	Skeletal muscle atrophy, Knee flexion contracture, Weight loss, Distal amyotrophy, Skeletal myopa...	ORPHA:3208
Congenital Disorder Of Glycosylation, Type Iig	Renal insufficiency, Hypospadias, Failure to thrive in infancy, Hemolytic-uremic syndrome, Crypto...	OMIM:611209
Hellp Syndrome	Back pain, Fatigue, Shoulder pain, Hemolytic anemia, Proteinuria, Decreased mean corpuscular hemo...	ORPHA:244242
Paraparetic Variant Of Guillain-Barré Syndrome	Urinary bladder sphincter dysfunction	ORPHA:231445
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Nephropathy, Proteinuria	ORPHA:1765
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Abdominal pain, Splenomegaly, Leukocytosis, Hemoglobinuria, Unconj...	OMIM:300908
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Failure to thrive, Hypocitraturia, Bone pain, Nephrolithiasi...	ORPHA:18
Oculopharyngodistal Myopathy	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis...	ORPHA:98897
Immunodeficiency 27A	Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Night sweats, Weight loss...	OMIM:209950
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Failure to thrive, Hydronephrosis, Limb hypertonia	ORPHA:488613
Cutis Laxa, Autosomal Recessive, Type Ia	Bladder diverticulum, Congenital diaphragmatic hernia	OMIM:219100
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Decreased response to growth hormone stim...	ORPHA:1855
Gaucher Disease Type 1	Pancytopenia, Proteinuria, Abdominal pain, Hypersplenism, Thrombocytopenia, Osteoarthritis, Splen...	ORPHA:77259
Townes-Brocks Syndrome 1	Bifid scrotum, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Re...	OMIM:107480
Shigellosis	Abnormal blood ion concentration, Uveitis, Conjunctivitis, Acute colitis, Hyponatremia, Fatigue, ...	ORPHA:810
Alexander Disease Type I	Failure to thrive, Cachexia	ORPHA:363717
Paroxysmal Nocturnal Hemoglobinuria 2	Fatigue, Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia, Abdominal pain, Arthralgia	OMIM:615399
Noonan Syndrome 4	Ureteral duplication, Large for gestational age, Cryptorchidism, Hydronephrosis, Thrombocytopenia	OMIM:610733
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis	ORPHA:73246
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Small for gestational age, Hypospadias, Flexion contracture, Micropenis, Hydronephrosis	OMIM:616897
Urachal Cyst	Dysuria, Elevated circulating C-reactive protein concentration, Pyuria, Abdominal pain, Abscess, ...	ORPHA:488
Nijmegen Breakage Syndrome	Skeletal muscle atrophy, Hemolytic anemia, Autoimmune hemolytic anemia, Rhabdomyosarcoma, Cachexi...	ORPHA:647
Craniosynostosis, Herrmann-Opitz Type	Abnormality of the urethra, Abnormality of the upper urinary tract	ORPHA:2145
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Urinary incontinence, Hypomimic face	ORPHA:247234
9Q21.13 Microdeletion Syndrome	Cryptorchidism, Hydronephrosis	ORPHA:531151
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Proteinuria, Renal artery stenosis	OMIM:209010
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Eczema, Abscess, Perianal abscess, Lymphadenitis, Splenomeg...	OMIM:618935
Trisomy 1Q	Multicystic kidney dysplasia, Small scrotum, Camptodactyly of finger, Congenital diaphragmatic he...	ORPHA:261344
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Achilles tend...	OMIM:607155
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Proteinuria, Conjugated hyperbilirubinemia, Chronic kidney disease, Renal cy...	OMIM:208500
Glycogen Storage Disease Ic	Renal insufficiency, Proteinuria, Cyclic neutropenia, Chronic pancreatitis, Hyperlipidemia, Gout,...	OMIM:232240
Pheochromocytoma--Islet Cell Tumor Syndrome	Hyperhidrosis, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level	OMIM:171420
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Hydronephrosis, Enlarged kidney	OMIM:314390
Immunoglobulin A Vasculitis	Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Abdominal pain, Pustul...	ORPHA:761
Metachromatic Leukodystrophy, Adult Form	Bowel incontinence, Urinary incontinence, Cholecystitis	ORPHA:309271
Camurati-Engelmann Disease	Skeletal muscle atrophy, Facial palsy, Cachexia, Splenomegaly, Bone pain, Leukopenia, Hypogonadis...	ORPHA:1328
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Bowel incontinence, Chronic otitis media, ...	ORPHA:261494
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced rhabdomyolysis, Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated circu...	OMIM:201475
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Anuria, Abdominal pain, Thrombocytopenia, Peritonitis, Leukocytosi...	ORPHA:90038
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Cryptorchidism, Imperforat...	OMIM:619522
Cronkhite-Canada Syndrome	Fatigue, Cachexia, Abdominal pain, Splenomegaly, Anemia	ORPHA:2930
Kury-Isidor Syndrome	Recurrent otitis media, Hydronephrosis	OMIM:619762
Avian Influenza	Fatigue, Lymphopenia, Elevated circulating creatine kinase concentration, Elevated circulating C-...	ORPHA:454836
Wilson Disease	Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoaciduria, Hypoalbuminemia...	OMIM:277900
Zellweger Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Primary adrenal insufficiency, Failure...	ORPHA:912
Eosinophilic Fasciitis	Fatigue, Fasciitis, Myositis, Abnormal eosinophil morphology, Eosinophilia, Weight loss, Arthriti...	ORPHA:3165
Reticular Dysgenesis	Skin rash, Abnormality of neutrophils, Weight loss, Leukopenia, Chronic otitis media, Failure to ...	ORPHA:33355
Desmoplastic Small Round Cell Tumor	Cachexia, Abdominal pain, Testicular neoplasm, Weight loss, Ovarian neoplasm, Anemia	ORPHA:83469
Tetrasomy 15Q26	Hydronephrosis, Horseshoe kidney, Camptodactyly	OMIM:614846
Systemic Sclerosis	Renal insufficiency, Pericarditis, Proteinuria, Elevated circulating creatine kinase concentratio...	ORPHA:90291
Stevens-Johnson Syndrome	Fatigue, Dyspareunia, Renal insufficiency, Dysuria, Sudden cardiac death, Abdominal pain, Abnorma...	ORPHA:36426
Familial Glucocorticoid Deficiency	Hyponatremia, Recurrent urinary tract infections, Decreased circulating cortisol level, Chronic f...	ORPHA:361
Hemochromatosis, Type 3	Fatigue, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated tr...	OMIM:604250
Schwartz-Jampel Syndrome	Hip contracture, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Sho...	ORPHA:800
Al-Gazali Syndrome	Failure to thrive, Recurrent pneumonia, Wrist flexion contracture, Hydronephrosis	OMIM:609465
Mirage Syndrome	Hyponatremia, Lymphopenia, Recurrent urinary tract infections, Hypospadias, Hypergonadotropic hyp...	OMIM:617053
Spastic Paraplegia 30, Autosomal Dominant	Urinary bladder sphincter dysfunction	OMIM:610357
Flynn-Aird Syndrome	Skeletal muscle atrophy, Primary adrenal insufficiency, Cachexia	ORPHA:2047
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Hyperh...	ORPHA:1304
Microcephaly 26, Primary, Autosomal Dominant	Failure to thrive, Recurrent pneumonia, Hydronephrosis	OMIM:619179
Martin-Probst Syndrome	Bifid scrotum, Renal insufficiency, Pancytopenia, Proteinuria, Cryptorchidism, Chordee, Micropeni...	OMIM:300519
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paroxysmal nocturnal hemoglobinuria, Limb muscle weakness, Hemolytic anemia, Skeletal muscle atrophy	OMIM:612300
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Congenital diaphragmatic hernia, Blad...	OMIM:614080
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Abnormal ...	ORPHA:411629
Polyarteritis Nodosa	Pericarditis, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, A...	ORPHA:767
Congenital Disorder Of Glycosylation, Type Ia	Pericarditis, Premature ovarian insufficiency, Proteinuria, Hypergonadotropic hypogonadism, Flexi...	OMIM:212065
Trisomy 18	Camptodactyly of finger, Congenital diaphragmatic hernia, Abnormality of the upper urinary tract,...	ORPHA:3380
Nephroblastoma	Hematuria, Abdominal pain, Nephroblastoma, Weight loss	ORPHA:654
Neuropathy, Congenital Hypomyelinating, 3	Limb joint contracture, Cachexia, Flexion contracture, Facial diplegia, Arthrogryposis multiplex ...	OMIM:618186
Felty Syndrome	Episcleritis, Recurrent urinary tract infections, Sinusitis, Pericarditis, Thrombocytopenia, Sple...	ORPHA:47612
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hypoplasia of the bladder, Hydroureter, Small for gestational age, Septate vagina, Bicornuate ute...	OMIM:300707
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Increased mean corpu...	OMIM:194380
Hand-Foot-Genital Syndrome	Recurrent urinary tract infections, Hypospadias, Abnormality of the urethra, Bicornuate uterus, A...	ORPHA:2438
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Lymphopenia, Renal hypoplasia, Renal cyst, Neutropenia, Vesicoureteral refl...	OMIM:618460
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Flexion contracture, Weight loss, Abnormal circulating lipid concentration, Hyperlipopr...	ORPHA:1979
Ohdo Syndrome	Cryptorchidism, Small scrotum, Proteinuria	OMIM:249620
Toxic Epidermal Necrolysis	Fatigue, Renal insufficiency, Dysuria, Sudden cardiac death, Abdominal pain, Abnormality of the u...	ORPHA:537
Multiple Myeloma	Fatigue, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Bone pain, A...	ORPHA:29073
Fatal Familial Insomnia	Weight loss, Urinary retention, Hyperhidrosis	OMIM:600072
Leishmaniasis	Fatigue, Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Night swea...	ORPHA:507
Systemic Lupus Erythematosus	Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Cheilitis, Hematuria,...	ORPHA:536
Tuberculosis	Fatigue, Weight loss	ORPHA:3389
Koolen-De Vries Syndrome	Ureteral duplication, Hypospadias, Cryptorchidism, Vesicoureteral reflux, Hypothyroidism, Hydrone...	ORPHA:96169
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Cachexia, Elbow flexion contracture, Knee flexion contracture, Severe failure to...	ORPHA:371364
Glycogen Storage Disease Xii	Normocytic anemia, Elevated circulating creatine kinase concentration, Splenomegaly, Hemoglobinur...	OMIM:611881
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cryptorchidism, Limb joint contracture, Hydronephrosis, Limb hypertonia	OMIM:620327
Pseudoleprechaunism Syndrome, Patterson Type	Bladder diverticulum	ORPHA:2976
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Castleman Disease	Fatigue, Renal insufficiency, Elevated circulating C-reactive protein concentration, Abdominal pa...	ORPHA:160
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Bifid uterus, Epispadias, Vesicovagina...	OMIM:258040
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Elevated circulating crea...	OMIM:620300
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria, Rhabdomyolysis	OMIM:602199
Pure Mitochondrial Myopathy	Exercise intolerance, Scapular winging, Recurrent myoglobinuria, Quadriceps muscle weakness, Rhab...	ORPHA:254854
Epilepsy, Progressive Myoclonic, 10	Urinary incontinence	OMIM:616640
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, Chronic otitis media, Decreas...	ORPHA:443811
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Bilateral cryptorchidism, Increased serum bile acid concentration, Hyperbilirubinemia, Mild prote...	OMIM:619685
Wolman Disease	Cachexia, Bone-marrow foam cells, Splenomegaly, Adrenal insufficiency, Anemia	ORPHA:75233
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Cryptorchidism, Splenomegaly, Abnormal renal morphology, Hepatosplenomegaly, Hypocalcemia, Abnorm...	ORPHA:1655
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Abdominal pain, Xerostomia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia	OMIM:175500
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Duplicated collecting system, Hepatosplenomegaly, Decreased serum zinc, Esophagitis, Hydronephrosis	ORPHA:541423
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia...	ORPHA:2461
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Glandular hypospad...	ORPHA:1358
Czeizel-Losonci Syndrome	Posterolateral diaphragmatic hernia, Ureteral agenesis, Abnormality of the urinary system, Congen...	ORPHA:2437
Musculocontractural Ehlers-Danlos Syndrome	Decreased muscle mass, Recurrent skin infections, Cryptorchidism, Functional abnormality of the b...	ORPHA:2953
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T c...	ORPHA:760
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypokalemia, Aminoaci...	OMIM:617913
Neuromyelitis Optica Spectrum Disorder	Functional abnormality of the bladder	ORPHA:71211
Microphthalmia, Lenz Type	Hydroureter, Hypospadias, Camptodactyly of finger, Renal hypoplasia/aplasia, Cryptorchidism, Hydr...	ORPHA:568
Arnold-Chiari Malformation Type I	Abnormality of the musculature of the lower limbs, Urinary incontinence, Neck pain	ORPHA:268882
Metachromatic Leukodystrophy	Urinary incontinence, Bowel incontinence, Limb pain, Impaired continence, Pain	ORPHA:512
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2715
Nail-Patella Syndrome	Back pain, Renal insufficiency, Biceps aplasia, Proteinuria, Glomerulonephritis, Absence of pecto...	OMIM:161200
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Neutropenia, Nephritis, Infectious enc...	ORPHA:73263
Alveolar Echinococcosis	Fatigue, Low back pain, Liver abscess, Cholangitis, Eosinophilia, Abdominal pain, Renal cyst, Abn...	ORPHA:284
Adrenocortical Carcinoma	Increased urinary cortisol level, Abdominal pain, Adrenocorticotropic hormone deficiency, Abnorma...	ORPHA:1501
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent urinary tract infections, Recurrent skin infections, Splenomegaly, Leukopenia, Lymphopenia	OMIM:620210
Micro Syndrome	Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Abnormal localization of kidney, C...	ORPHA:2510
Mckusick-Kaufman Syndrome	Hydroureter, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, V...	OMIM:236700
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Skin rash, Hepatospleno...	OMIM:619924
Carpenter Syndrome 1	Hydroureter, External genital hypoplasia, Precocious puberty, Cryptorchidism, Obesity, Polyspleni...	OMIM:201000
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Recurrent urinary tract infections, Hypoplasia of penis, Ambiguous genitalia, Abnormality of the ...	ORPHA:847
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Recurrent urinary tract infections, Sinusitis, Hypouricemia, Increased circulating g...	OMIM:613179
Microphthalmia, Syndromic 9	Renal malrotation, Congenital diaphragmatic hernia, Cryptorchidism, Renal hypoplasia, Horseshoe k...	OMIM:601186
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Elliptocytosis, Microscopic hematuria	ORPHA:86818
Chromosome 2P16.1-P15 Deletion Syndrome	Cryptorchidism, Hydronephrosis, Hypogonadism, Camptodactyly, Micropenis, Joint contracture of the...	OMIM:612513
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Pancreatic islet cell adenoma, Hypercalcemia, Primary hyperparathyroidis...	ORPHA:97289
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy	Urinary urgency	ORPHA:314603
Systemic Lupus Erythematosus 17	Lymphopenia, Autoimmune thrombocytopenia, Thrombocytopenia, Leukopenia, Arthralgia, Optic neuriti...	OMIM:301080
Meningioma	Back pain, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Urinary incontine...	ORPHA:2495
Acute Adrenal Insufficiency	Hyponatremia, Fatigue, Renal insufficiency, Decreased circulating cortisol level, Decreased femal...	ORPHA:95409
Tetrasomy 12P	Cachexia, Hypohidrosis	ORPHA:884
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Enuresis	OMIM:613670
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Flexion contracture, Hepatospl...	ORPHA:505248
X-Linked Agammaglobulinemia	Fatigue, Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Thrombocytop...	ORPHA:47
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Knee flexion contra...	ORPHA:85201
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Small for gestational age, Precocious puberty, Cryptorchidism, Dilat...	ORPHA:2044
Penile Agenesis	Urethral atresia, male, Hydroureter, Cryptorchidism, Fetal pyelectasis, Bilateral renal hypoplasi...	ORPHA:49
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypospadias, Cryptorchidism, Macroglossia, Aminoaciduria, Albuminuria, Elevated circulating long ...	OMIM:214100
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H...	ORPHA:47159
Pfapa Syndrome	Fatigue, Abdominal pain, Splenomegaly, Weight loss, Arthritis, Arthralgia, Infectious encephalitis	ORPHA:42642
Galloway-Mowat Syndrome	Nephropathy, Nephrotic syndrome, Proteinuria, Camptodactyly of finger	ORPHA:2065
Acquired Generalized Lipodystrophy	Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Calf muscle pseudohypertrophy, Polycystic ...	ORPHA:79086
Acro-Renal-Ocular Syndrome	Renal malrotation, Renal hypoplasia/aplasia, Horseshoe kidney, Bladder diverticulum, Vesicoureter...	ORPHA:959
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, Inflammatory abnormality of the skin, Sinusitis, Recurrent pneumonia, T lymphocytope...	ORPHA:277
Relapsing Polychondritis	Episcleritis, Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Chondritis of pinna...	ORPHA:728
Autosomal Recessive Spastic Paraplegia Type 20	Skeletal muscle atrophy, Dysuria, Upper limb muscle weakness, Distal amyotrophy, Hydronephrosis	ORPHA:101000
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp...	OMIM:617729
Melnick-Needles Syndrome	Vesicoureteral reflux, Hydronephrosis	ORPHA:2484
Mosaic Trisomy 8	Decreased testicular size, Camptodactyly of finger, Cryptorchidism, Vesicoureteral reflux, Arthro...	ORPHA:96061
Focal Myositis	Myositis, Myalgia, Elevated circulating creatine kinase concentration, Weight loss	ORPHA:48918
Congenital Disorder Of Glycosylation, Type It	Fatigue, Exercise intolerance, Elevated circulating creatine kinase concentration, Sudden cardiac...	OMIM:614921
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Cryptorchidism, Splenomegaly, Hypocalcemia, Micropenis, Hypoproteinemia, Hydronephrosis	OMIM:235255
Zaki Syndrome	Renal agenesis, Hydronephrosis, Congenital diaphragmatic hernia	OMIM:619648
Wagro Syndrome	Proteinuria, Hypoplastic female external genitalia, Obesity, Nephroblastoma, Decreased testicular...	OMIM:612469
Basel-Vanagaite-Smirin-Yosef Syndrome	Recurrent pneumonia, Hypospadias, Hydronephrosis, Clitoral hypertrophy	OMIM:616449
Trisomy 20P	Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Cryptorchidism, Abnormality of t...	ORPHA:261318
Mesomelia-Synostoses Syndrome	Hydronephrosis	ORPHA:2496
Bardet-Biedl Syndrome 20	Proteinuria, Bilateral cryptorchidism, Obesity, Male hypogonadism, Hypercholesterolemia, Micropen...	OMIM:619471
Baller-Gerold Syndrome	Failure to thrive in infancy, Abnormality of the ureter, Abnormal localization of kidney, Vesicou...	ORPHA:1225
Takenouchi-Kosaki Syndrome	Hypospadias, Unilateral renal agenesis, Increased mean platelet volume, Cryptorchidism, Camptodac...	OMIM:616737
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Obesity, Periodontitis, Moderate albuminuria, Hydronephrosis	OMIM:619269
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Decreased response to...	OMIM:129900
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin...	OMIM:300539
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Increased circulating fr...	ORPHA:71212
Parathyroid Carcinoma	Fatigue, Renal insufficiency, Renal hamartoma, Hypercalcemia, Testicular neoplasm, Primary hyperp...	ORPHA:143
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ectopic kidney, Cryptorchidism, Horseshoe kidney, Hypoalbuminemia, Camptodactyly, Vesicoureteral ...	OMIM:235510
Chondrodysplasia Punctata 2, X-Linked Dominant	Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Erythroderma, Failure to thrive, Hydron...	OMIM:302960
Spastic Paraplegia 80, Autosomal Dominant	Urinary urgency	OMIM:618418
Eec Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Renal hypoplasia/aplasia, Ker...	ORPHA:1896
Laryngeal Neuroendocrine Tumor	Elevated carcinoembryonic antigen level, Weight loss, Chronic fatigue, Adrenocorticotropic hormon...	ORPHA:100083
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Cryptorchidism, Hydronephrosis	ORPHA:457193
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Bicor...	ORPHA:2059
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R...	OMIM:243910
Koolen-De Vries Syndrome	Recurrent urinary tract infections, Small for gestational age, Eczema, Cryptorchidism, Hypotrophy...	OMIM:610443
Malignant Hyperthermia Of Anesthesia	Exercise-induced rhabdomyolysis, Elevated creatine kinase after exercise, Acute rhabdomyolysis, A...	ORPHA:423
Hyperuricemia, Hprt-Related	Renal insufficiency, Nephrolithiasis, Hyperuricosuria, Hyperuricemia, Podagra	OMIM:300323
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Urinary incontinence	ORPHA:314404
Mosaic Trisomy 9	Hypoplasia of penis, Camptodactyly of finger, Asplenia, Cryptorchidism, Horseshoe kidney, Hydrone...	ORPHA:99776
Duane-Radial Ray Syndrome	Renal malrotation, Renal agenesis, Facial palsy, Renal hypoplasia, Horseshoe kidney, Small thenar...	OMIM:607323
Pallister-Hall Syndrome	Renal dysplasia, Decreased testicular size, Decreased circulating cortisol level, Hydroureter, De...	OMIM:146510
Bladder Exstrophy	Hypoplasia of penis, Recurrent urinary tract infections, Bowel incontinence, Epispadias, Abnormal...	ORPHA:93930
Cutis Laxa, Autosomal Recessive, Type Ic	Posterolateral diaphragmatic hernia, Accessory spleen, Morgagni diaphragmatic hernia, Recurrent p...	OMIM:613177
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Weight loss	ORPHA:411593
Nijmegen Breakage Syndrome	Recurrent urinary tract infections, Sinusitis, Premature ovarian insufficiency, Autoimmune hemoly...	OMIM:251260
Liposarcoma	Fatigue, Abdominal pain, Abnormality of the kidney, Weight loss	ORPHA:69078
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob...	OMIM:617780
Takayasu Arteritis	Fatigue, Increased inflammatory response, Weight loss, Hyperhidrosis, Arthritis, Arthralgia, Ches...	ORPHA:3287
African Trypanosomiasis	Fatigue, Rigors, Renal insufficiency, Pericarditis, Urinary incontinence, Abnormality of the mens...	ORPHA:3385
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Renal agenesis, Hypospadias, Cryptorchidism, Reduced alpha/beta synthesis ratio, Hypochromic micr...	OMIM:301040
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Hypocalcemia, Neutropenia, Hyp...	ORPHA:699
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ketonuria, Elevated circulating creatine kinase concentration, Premature thelarche, Acute rhabdom...	OMIM:616878
Congenital Myopathy 17	Failure to thrive in infancy, Renal hypoplasia, Myopathy, Distal arthrogryposis, Diaphragmatic ev...	OMIM:618975
1Q21.1 Microdeletion Syndrome	Vesicoureteral reflux, Cryptorchidism, Failure to thrive, Hydronephrosis	ORPHA:250989
Donnai-Barrow Syndrome	Proteinuria, Congenital diaphragmatic hernia, Non-acidotic proximal tubulopathy, Bicornuate uteru...	OMIM:222448
Melas	Hypoparathyroidism, Exercise intolerance, Proteinuria, Hypogonadotropic hypogonadism, Ragged-red ...	ORPHA:550
Adnp Syndrome	Cryptorchidism, Recurrent urinary tract infections, Truncal obesity, Urinary incontinence	ORPHA:404448
Pheochromocytoma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Hyperhidrosis, Renal artery st...	OMIM:171300
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Aggressive Systemic Mastocytosis	Fatigue, Pancytopenia, Maculopapular exanthema, Abdominal pain, Hypersplenism, Thrombocytopenia, ...	ORPHA:98850
Occipital Horn Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Ur...	OMIM:304150
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing...	ORPHA:79102
Macrocephaly/Autism Syndrome	Penile freckling, Large for gestational age, Splenomegaly, Obesity, Hydrocele testis, Recurrent o...	OMIM:605309
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Hematuria, Limb pain, Proteinuria	OMIM:192315
3C Syndrome	Hypoplasia of penis, Hypospadias, Hydronephrosis	ORPHA:7
Pfeiffer Syndrome Type 3	Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney	ORPHA:93260
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia, Proximal rena...	ORPHA:2785
Encephalocraniocutaneous Lipomatosis	Cryptorchidism, Pelvic kidney, Hydronephrosis	OMIM:613001
Immunodeficiency 13	Lymphopenia, Recurrent pneumonia, Decreased proportion of CD4-positive helper T cells, Bronchiect...	OMIM:615518
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, T lymphocytopenia, Colitis, B lymphocytopenia, Lymphopenia	OMIM:619164
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Myoglobinuria, Dicarboxylic aciduria	OMIM:231530
Fabry Disease	Fatigue, Glomerulopathy, Renal insufficiency, Proteinuria, Abdominal pain, Hyperlipidemia, Hypohi...	ORPHA:324
X-Linked Dominant Chondrodysplasia Punctata	Flexion contracture, Hydronephrosis, Erythroderma	ORPHA:35173
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Pneumonia, Ectopic kidney, Congenital diaphragmatic hernia, Cryptorchid...	OMIM:122470
Intellectual Disability, Buenos-Aires Type	Hydronephrosis	ORPHA:3079
Oculoauriculovertebral Spectrum With Radial Defects	Vesicoureteral reflux, EMG: myopathic abnormalities, Distal urethral duplication, Renal hypoplasi...	ORPHA:2549
Floating-Harbor Syndrome	Hypospadias, Cryptorchidism, Glandular hypospadias, Atopic dermatitis, Varicocele, Nephrocalcinos...	OMIM:136140
Agel Amyloidosis	Proteinuria, Facial palsy, Xerostomia, Stage 5 chronic kidney disease, Keratoconjunctivitis sicca...	ORPHA:85448
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Urinary incontinence, Aspiration pneumonia	OMIM:619482
Chronic Hiccup	Abnormality of the diaphragm, Recurrent singultus, Weight loss	ORPHA:396
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Elevated circulating deoxyuridine concentration, Cachexia, Abdominal pain, Ragged-red muscle fibe...	OMIM:603041
Autosomal Dominant Spastic Paraplegia Type 41	Urinary urgency	ORPHA:320355
Intellectual Developmental Disorder, Autosomal Dominant 68	Joint contracture of the 5th finger, Urinary incontinence	OMIM:619934
Refractory Celiac Disease	Normocytic anemia, Inflammatory abnormality of the skin, Macrocytic anemia, Abdominal pain, Micro...	ORPHA:398063
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron...	OMIM:271520
8P Inverted Duplication/Deletion Syndrome	Small hypothenar eminence, Precocious puberty, Cryptorchidism, Contractures of the large joints, ...	ORPHA:96092
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Facial palsy, Camptodactyly of finger, Hydronephrosis, Hypogonadism...	ORPHA:261349
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Fatigue, Hemolytic anemia, Anuria, Brain abscess, Pneumonia, Abdominal pain, Myocar...	ORPHA:544482
Wilson Disease	Back pain, Abnormality of the menstrual cycle, Thrombocytopenia, Splenomegaly, Bone pain, Hepatit...	ORPHA:905
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormal bladder morphology, Cryptorchidism, Macroglossia, Vesicoureteral reflux, Failure to thri...	ORPHA:453499
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropeni...	OMIM:614172
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocyto...	ORPHA:391487
Bladder Exstrophy And Epispadias Complex	Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy, Bifid cl...	OMIM:600057
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis	ORPHA:1297
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Small for gestational age, Nephrot...	OMIM:251300
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Bladder diverticulum, Recurrent pneumonia, Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyri...	OMIM:225400
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria, Hemolytic anemia	OMIM:266120
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia, Skeletal muscle atrophy, Small for gestational age, Patent urachus, Failure to thrive	OMIM:618252
Familial Renal Glucosuria	Recurrent urinary tract infections, Renal tubular dysfunction, Enuresis, Glycosuria, Nephropathy	ORPHA:69076
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Cryptorchidism, Obesity, Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydronephrosis	OMIM:618653
3-Hydroxy-3-Methylglutaric Aciduria	Fatigue, Acute pancreatitis, Ketonuria, Leukocytosis, Hyperammonemia, Weight loss, Leukopenia, 3-...	ORPHA:20
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Bladder diverticulum, Myopathy, Skeletal muscle atrophy, Type 1 muscle fiber predominance	OMIM:614557
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Flexion contracture of finger, Failure to thrive, Hypospadias, Small for gestational age, Unilate...	ORPHA:464311
Kabuki Syndrome	Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Cong...	ORPHA:2322
Polymyositis	Fatigue, Pericarditis, Elevated circulating creatine kinase concentration, Abnormal muscle fiber ...	ORPHA:732
Immunodeficiency 23	Hemolytic anemia, Lymphopenia, Membranoproliferative glomerulonephritis, Allergic rhinitis, Eczem...	OMIM:615816
Lumbar Syndrome	Bifid scrotum, Ambiguous genitalia, Renal agenesis, Hypospadias, Bifid uterus, Cryptorchidism, Hy...	ORPHA:83628
Beta-Ketothiolase Deficiency	Ketonuria, Leukocytosis, Hyperammonemia, Weight loss, Body odor, Hyperuricemia, Thrombocytosis	ORPHA:134
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Fatigue, Splenomegaly, Weight loss, Hyperhidrosis	ORPHA:86893
Intellectual Developmental Disorder, Autosomal Dominant 53	Cryptorchidism, Micropenis, Hydronephrosis	OMIM:617798
Addison Disease	Normocytic anemia, Decreased circulating cortisol level, Renal salt wasting, Decreased urinary po...	ORPHA:85138
Roussy-Lévy Syndrome	Urinary bladder sphincter dysfunction	ORPHA:3115
Q Fever	Fatigue, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Myocarditis, Thrombocyt...	ORPHA:781
Tarp Syndrome	Failure to thrive, Hydronephrosis, Horseshoe kidney	OMIM:311900
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, Weight loss, Renal tubular ...	ORPHA:99885
Lymphoid Interstitial Pneumonia	Fatigue, Skin rash, Eczema, Bronchiectasis, Weight loss, Keratoconjunctivitis sicca, Rheumatoid a...	ORPHA:79128
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodon...	ORPHA:534
Lujo Hemorrhagic Fever	Rigors, Lymphopenia, Renal insufficiency, Maculopapular exanthema, Skin rash, Elevated circulatin...	ORPHA:319213
Frontometaphyseal Dysplasia 1	Skeletal muscle atrophy, Scapular winging, Hydroureter, Interphalangeal joint contracture of fing...	OMIM:305620
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Diphallia	Bifid scrotum, Ureteral duplication, Renal malrotation, Rectoperineal fistula, Hypospadias, Dista...	ORPHA:227
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Lymphopenia, Inflammatory abnormality of the skin, Sinusitis, Skin r...	OMIM:102700
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Multiple joint contractures, Urinary incontinence	ORPHA:447997
Kawasaki Disease	Fatigue, Pericarditis, Proteinuria, Skin rash, Abdominal pain, Myocarditis, Leukocytosis, Hepatit...	ORPHA:2331
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Cachexia	ORPHA:93941
Kufor-Rakeb Syndrome	Fatigue, Urinary incontinence, Bowel incontinence, Leg muscle stiffness, Hypomimic face	ORPHA:306674
Autosomal Dominant Spastic Paraplegia Type 3	Urinary urgency	ORPHA:100984
Eosinophilic Gastroenteritis	Allergic rhinitis, Elevated circulating C-reactive protein concentration, Abdominal pain, Eosinop...	ORPHA:2070
Deafness-Lymphedema-Leukemia Syndrome	Fatigue, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Weight loss, Acute leukemia, Myel...	ORPHA:3226
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Diastasis recti, Flexion contracture, Macroglossia, Camptodactyly, Flexion contracture of finger,...	ORPHA:254528
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypospadias, Cryptorchidism, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia, Micropenis, Hydr...	ORPHA:163979
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Fatigue, Psoriasiform dermatitis, Acne, Osteomyelitis, Elevated circulating C-reactive protein co...	ORPHA:324964
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Arthritis, Lymphopenia, Eosinophilia	ORPHA:2582
Classic Hodgkin Lymphoma	Fatigue, Skin rash, Splenomegaly, Bone pain, Weight loss, Hyperhidrosis, Chest pain	ORPHA:391
Giant Cell Arteritis	Fatigue, Renal insufficiency, Pericarditis, Sudden cardiac death, Abdominal pain, Hyperhidrosis, ...	ORPHA:397
Dyrk1A-Related Intellectual Disability Syndrome	Failure to thrive, Multiple joint contractures, Hypospadias, Eczema, Unilateral renal agenesis, S...	ORPHA:464306
Neurodegeneration With Brain Iron Accumulation 1	Myopathy, Decreased muscle mass, Urinary incontinence, Acanthocytosis	OMIM:234200
Pelvis-Shoulder Dysplasia	Ambiguous genitalia, Camptodactyly of finger, Hydronephrosis	ORPHA:2839
Developmental Delay With Or Without Dysmorphic Facies And Autism	Small scrotum, Congenital diaphragmatic hernia, Cryptorchidism, Renal hypoplasia, Renal cyst, Mic...	OMIM:618454
Crimean-Congo Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Hyperhidrosis, Leukopenia, Arthralgia, Conjun...	ORPHA:99827
Inflammatory Bowel Disease (Crohn Disease) 1	Abdominal pain, Ulcerative colitis, Weight loss, Inflammation of the large intestine, Recurrent a...	OMIM:266600
Vater/Vacterl Association	Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent urachus, Vesicoureteral refl...	OMIM:192350
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia...	ORPHA:90794
Caroli Disease	Liver abscess, Cholangitis, Abdominal pain, Conjugated hyperbilirubinemia, Splenomegaly, Leukocyt...	ORPHA:53035
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis	OMIM:204690
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hydroureter, Elevated circulating alpha-fetoprotein concentration, Hypertrophy of the urinary bla...	ORPHA:280633
Menkes Disease	Fatigue, Bladder diverticulum, Osteomyelitis, Aplasia/Hypoplasia of the abdominal wall musculature	ORPHA:565
Immunodeficiency 85 And Autoimmunity	Failure to thrive in infancy, Eczema, Oligoarthritis, T lymphocytopenia, Erythroderma, Decreased ...	OMIM:619510
Isaacs Syndrome	Calf muscle hypertrophy, Weight loss, Hyperhidrosis	ORPHA:84142
Gabriele-De Vries Syndrome	Facial hypotonia, Cryptorchidism, Distal arthrogryposis, Ureteropelvic junction obstruction, Hydr...	OMIM:617557
Cat Eye Syndrome	Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Horseshoe kidney	OMIM:115470
Erythrokeratodermia Variabilis	Abnormal testis morphology, Skin rash, Weight loss	ORPHA:317
Idiopathic Chronic Eosinophilic Pneumonia	Elevated circulating C-reactive protein concentration, Leukocytosis, Night sweats, Hypereosinophi...	ORPHA:2902
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Cryptorchidism, Ureteropelvic junction obstruction, Failure to thrive, Hy...	ORPHA:444072
Okamoto Syndrome	Urinary incontinence, Bifid uterus, Splenomegaly, Unilateral renal hypoplasia, Ureteropelvic junc...	ORPHA:2729
Short Stature, Microcephaly, And Endocrine Dysfunction	Lymphopenia, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Renal hypoplasia, Truncal...	OMIM:616541
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Recurrent pneumonia, Male urethral meatus stenosis, Hydronephrosis, Contracture of t...	ORPHA:464738
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Lymphopenia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T ce...	ORPHA:169154
Nephrogenic Diabetes Insipidus	Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos...	ORPHA:223
Sotos Syndrome	Ureteral duplication, Flexion contracture, Chronic otitis media, Vesicoureteral reflux, Hypothyro...	ORPHA:821
Behçet Disease	Myositis, Arthralgia, Infectious encephalitis, Fatigue, Glomerulopathy, Acne, Abdominal pain, Ret...	ORPHA:117
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Anterior uveitis, Hemolytic anemia, Skin rash, Genital ulcers, Colitis, Lymphopenia, Thrombocytop...	OMIM:616744
Oculogastrointestinal Muscular Dystrophy	Skeletal muscle atrophy, Myopathy, Cachexia	ORPHA:1876
Rat-Bite Fever	Back pain, Lymphadenitis, Arthralgia, Morbilliform rash, Chills, Maculopapular exanthema, Parotit...	ORPHA:31205
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Ureteral triplication, Hydronephrosis	OMIM:104350
7Q11.23 Microduplication Syndrome	Hypospadias, Unilateral renal agenesis, Congenital diaphragmatic hernia, Cryptorchidism, Obesity,...	ORPHA:96121
Au-Kline Syndrome	Cryptorchidism, Chronic kidney disease, Dilatation of the renal pelvis, Vesicoureteral reflux, Fa...	OMIM:616580
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Aplastic anemia, Abdominal pain, Eo...	ORPHA:486
Opitz Gbbb Syndrome	Bifid scrotum, Enlarged ovaries, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Ab...	ORPHA:2745
Ileal Neuroendocrine Tumor	Chronic fatigue, Episodic abdominal pain, Weight loss, Iron deficiency anemia, Hydronephrosis	ORPHA:100078
White-Kernohan Syndrome	Hydroureter, Obesity, Horseshoe kidney, Rectovaginal fistula, Recurrent otitis media, Hypothyroid...	OMIM:619426
Xq28 (MECP2) duplication	Functional abnormality of the bladder	DECIPHER:45
Thakker-Donnai Syndrome	Rectovaginal fistula, Hydronephrosis, Congenital diaphragmatic hernia	ORPHA:1780
Infantile Krabbe Disease	Failure to thrive, Shoulder girdle muscle weakness, Cachexia	ORPHA:206436
Liver Disease, Severe Congenital	Chronic gastritis, Leukopenia, Aminoaciduria, Hypocalcemia, Lymphocytosis, Elevated hepatic iron ...	OMIM:619991
Autosomal Recessive Spastic Paraplegia Type 15	Functional abnormality of the bladder	ORPHA:100996
Peripheral Primitive Neuroectodermal Tumor	Back pain, Torticollis, Metrorrhagia, Elevated carcinoma antigen 125 level, Elevated circulating ...	ORPHA:370348
Baraitser-Winter Cerebrofrontofacial Syndrome	Failure to thrive, Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:2995
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, Hepatosplenome...	ORPHA:169160
Otopalatodigital Syndrome Type 2	Hypospadias, Camptodactyly of finger, Ureteral obstruction, Failure to thrive, Hydronephrosis	ORPHA:90652
Undifferentiated Pleomorphic Sarcoma	Fatigue, Weight loss	ORPHA:2023
Distal Deletion 12Q	Late onset atopic dermatitis, Unilateral cryptorchidism, Failure to thrive in infancy, Ectopic ki...	ORPHA:96149
Fusariosis	Brain abscess, Fasciitis, Sinusitis, Maculopapular exanthema, Abnormality of the kidney, Myositis...	ORPHA:228119
Fryns Syndrome	Bifid scrotum, Ureteral duplication, Renal agenesis, Hypospadias, Large for gestational age, Cryp...	OMIM:229850
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Camptodactyly of finger, Horseshoe kidney, Duplication...	DECIPHER:81
Tarp Syndrome	Extramedullary hematopoiesis, Cryptorchidism, Horseshoe kidney, Failure to thrive, Hydronephrosis	ORPHA:2886
Craniofacioskeletal Syndrome	Hydronephrosis, Cryptorchidism, Hypospadias, Hypocalcemia	OMIM:300712
Stromme Syndrome	Accessory spleen, Myopathy, Bilateral renal hypoplasia, Hydronephrosis	OMIM:243605
Autosomal Dominant Spastic Paraplegia Type 37	Urinary urgency	ORPHA:171612
X-Linked Creatine Transporter Deficiency	Abnormal circulating creatine concentration, Cachexia	ORPHA:52503
Dubowitz Syndrome	Hypoparathyroidism, Hypospadias, Eczema, Abnormality of neutrophils, Cryptorchidism, Thrombocytop...	ORPHA:235
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Cachexia, Myopathy, Hashimoto thyroiditis, Uterine neoplasm	ORPHA:109
Schinzel-Giedion Midface Retraction Syndrome	Ureteral stenosis, Hypospadias, Hydroureter, Small scrotum, Hypoplastic labia minora, Splenopancr...	OMIM:269150
Symptomatic Form Of Hfe-Related Hemochromatosis	Fatigue, Decreased muscle mass, Hypogonadotropic hypogonadism, Testicular atrophy, Abdominal pain...	ORPHA:465508
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Bronchiectasis, Weight loss	ORPHA:1164
15Q Overgrowth Syndrome	Contracture of the proximal interphalangeal joint of the 2nd finger, Ureterovesical stenosis, Abn...	ORPHA:314585
Cyclic Neutropenia	Fatigue, Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal absce...	ORPHA:2686
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Monocytopenia, Pancytopenia, Impaired neutr...	OMIM:618986
Autoimmune Lymphoproliferative Syndrome	Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8...	ORPHA:3261
Campomelic Dysplasia	Ambiguous genitalia, Male pseudohermaphroditism, Hydronephrosis	ORPHA:140
Gaucher Disease Type 3	Fatigue, Pancytopenia, Proteinuria, Thrombocytopenia, Splenomegaly, Bone pain, Hematuria, Anemia	ORPHA:77261
Hypoplasminogenemia	Cervicitis, Decreased level of plasminogen, Nephrolithiasis, Periodontitis, Abnormal fallopian tu...	ORPHA:722
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2	Cryptorchidism, Male urethral meatus stenosis	OMIM:616001
Cardiofaciocutaneous Syndrome 1	Splenomegaly, Atopic dermatitis, Hyperhidrosis, Failure to thrive, Hydronephrosis	OMIM:115150
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Failure to thrive, Elevated circulating creatine kinase c...	OMIM:309000
Riddle Syndrome	Pneumonia, Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Recurrent pneumo...	ORPHA:420741
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent bacterial skin infections, Abnormally low T cell receptor excision circle level, Decrea...	ORPHA:276
Rett Syndrome	Skeletal muscle atrophy, Cachexia	OMIM:312750
Teebi-Shaltout Syndrome	Ureteral stenosis, Hydronephrosis, Horseshoe kidney, Camptodactyly	OMIM:272950
Alström Syndrome	Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali...	ORPHA:64
Sting-Associated Vasculopathy, Infantile-Onset	Skeletal muscle atrophy, Myositis, Failure to thrive, Skin rash, Lymphopenia, Elevated circulatin...	OMIM:615934
Chronic Beryllium Disease	Fatigue, Lymphocytic interstitial pneumonia, Abnormal proportion of CD4-positive T cells, Weight ...	ORPHA:133
Peritoneal Cystic Mesothelioma	Dyspareunia, Metrorrhagia, Abdominal pain, Peritonitis, Weight loss, Menorrhagia	ORPHA:168816
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Renal dysplasia, Abnormality of thyroid physiology, Hydronephrosis	OMIM:300968
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Micropenis, Penos...	OMIM:270400
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Premature ovarian insuffi...	ORPHA:199299
Cousin Syndrome	Ambiguous genitalia, female, Ambiguous genitalia, male, Camptodactyly, Joint contracture of the h...	OMIM:260660
Hyperphosphatasia-Intellectual Disability Syndrome	Hydronephrosis	ORPHA:247262
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine...	ORPHA:906
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Myositis, Sinusitis, Hypertriglyceridemia, Skin rash, Thrombocytopenia, Splenomegaly...	OMIM:617591
Spastic Paraplegia 78, Autosomal Recessive	Urinary urgency	OMIM:617225
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Atrophic gastritis, Pancytopenia, Skin rash, Chilblains, Pneumonia, Increased c...	OMIM:615846
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Diastasis recti, Congenital diaphragmatic hernia, Renal hypoplasia/...	ORPHA:2092
8P23.1 Microdeletion Syndrome	Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Weight loss	ORPHA:251071
Autosomal Recessive Spastic Paraplegia Type 44	Urinary bladder sphincter dysfunction	ORPHA:320401
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Congenital Alveolar Capillary Dysplasia	Asplenia, Hydronephrosis	ORPHA:210122
T-Cell Immunodeficiency With Thymic Aplasia	Lymphopenia, Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, T ly...	OMIM:242700
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Skin rash, Elevated circulating C-reactive protein concentration, Abdominal pa...	OMIM:301074
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Superficial dermal perivascular inflammatory infiltrate, Severe B lymphocytopenia, Eczema, Seborr...	ORPHA:83617
Gaucher Disease	Fatigue, Pancytopenia, Osteomyelitis, Proteinuria, Elevated circulating C-reactive protein concen...	ORPHA:355
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter...	ORPHA:373
Cardiofaciocutaneous Syndrome	Cryptorchidism, Failure to thrive in infancy, Hydronephrosis	ORPHA:1340
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Recurrent urinary tract infections, Hypospadias, Eczema, Decreased response ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Recurrent urinary tract infections, Hypospadias, Eczema, Decreased response ...	ORPHA:363958
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hypospadias, Unilateral renal agenesis, Increased mean platelet volume, Flexion contracture, Camp...	ORPHA:487796
Marburg Hemorrhagic Fever	Back pain, Elevated circulating creatine kinase concentration, Uveitis, Leukopenia, Arthralgia, H...	ORPHA:99826
Rheumatoid Arthritis	Fatigue, Elevated circulating C-reactive protein concentration, Weight loss, Digital flexor tenos...	OMIM:180300
Alg9-Cdg	Hypoplasia of the bladder, Torticollis, Ureteral hypoplasia, Hypoplasia of the musculature, Bicor...	ORPHA:79328
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Fatigue, Hepatosplenomegaly, Weight loss, Panniculitis, Hemophagocytosis, Chills	ORPHA:86884
Hereditary Late-Onset Parkinson Disease	Weight loss, Spastic/hyperactive bladder, Hypomimic face	ORPHA:411602
Pseudomyxoma Peritonei	Abdominal pain, Inflammation of the large intestine, Weight loss	ORPHA:26790
Malignant Atrophic Papulosis	Fatigue, Abdominal pain, Peritonitis, Weight loss, Chest pain, Arteritis, Abnormality of the lowe...	ORPHA:679
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Skin rash, Cachexia	ORPHA:220295
Kaposi Sarcoma	Fatigue, Abnormality of the spleen, Skin rash, Weight loss	ORPHA:33276
Kyphoscoliotic Ehlers-Danlos Syndrome	Bladder diverticulum, Myopathy, Skeletal muscle atrophy	ORPHA:536545
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb...	OMIM:614748
Ménétrier Disease	Abdominal pain, Hypochromic microcytic anemia, Weight loss, Hypoalbuminemia, Asthenia, Hypoprotei...	ORPHA:2494
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Pustule, Glucocortocoid-insensitive pr...	ORPHA:171876
Proteus Syndrome	Decreased muscle mass, Thymus hyperplasia, Testicular neoplasm, Cachexia, Enlarged polycystic ova...	ORPHA:744
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Autoimmune thrombocytopenia, Hypothyroidism, Neutropenia, T lymphocytopenia, Rheumatoi...	OMIM:607944
Occipital Horn Syndrome	Bladder diverticulum, Recurrent urinary tract infections, Hepatitis, Esophagitis	ORPHA:198
Autosomal Dominant Spastic Paraplegia Type 19	Urinary urgency	ORPHA:100999
Raine Syndrome	Arthrogryposis multiplex congenita, Hydroureter, Hydronephrosis, Hypophosphatemia	OMIM:259775
Pierson Syndrome	Diffuse mesangial sclerosis, Skeletal muscle atrophy, Proteinuria, Stage 5 chronic kidney disease...	OMIM:609049
Pulmonary Alveolar Microlithiasis	Fatigue, Calcium nephrolithiasis, Abnormal circulating calcium concentration, Bronchiectasis, Dec...	ORPHA:60025
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Chronic otitis media, Hydronephro...	ORPHA:2750
Spinocerebellar Ataxia 25	Urinary urgency	OMIM:608703
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Xerostomia, Gastrointestinal inflammation, Conjunctivitis, Neutropenia, Abnormal penis morphology...	ORPHA:95455
Schinzel-Giedion Syndrome	Streak ovary, Hypospadias, Nephroblastoma, Failure to thrive in infancy, Myeloid leukemia, Recurr...	ORPHA:798
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Recurrent skin infections, Recurrent pneumonia, Atopic dermatitis, Bronchiectasis, Chronic mucocu...	OMIM:619752
Spastic Paraplegia Type 2	Spastic/hyperactive bladder	ORPHA:99015
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphopenia, Abnormal B cell count, Abnormal T cell count, Skin rash, Autoimmune hemolytic anemia...	ORPHA:331206
Apert Syndrome	Acne, Cryptorchidism, Hyperhidrosis, Vaginal atresia, Chronic otitis media, Hydronephrosis	OMIM:101200
Hereditary Acrokeratotic Poikiloderma	Eczema, Camptodactyly of finger, Abnormal preputium morphology, Abnormality of the urethra, Pustu...	ORPHA:2907
Cockayne Syndrome B	Anhidrosis, Renal insufficiency, Proteinuria, Small for gestational age, Cryptorchidism, Splenome...	OMIM:133540
Mowat-Wilson Syndrome	Bifid scrotum, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux, Webbed...	ORPHA:2152
Cryptogenic Organizing Pneumonia	Fatigue, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Night...	ORPHA:1302
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence...	ORPHA:261537
Holoprosencephaly 3	Hydronephrosis	OMIM:142945
Inflammatory Bowel Disease 11	Abdominal pain, Inflammation of the large intestine, Weight loss	OMIM:191390
Cockayne Syndrome A	Anhidrosis, Renal insufficiency, Hip contracture, Proteinuria, Cryptorchidism, Splenomegaly, Irre...	OMIM:216400
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Unilateral renal agenesis, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Flexion cont...	OMIM:308050
Nodular Non-Suppurative Panniculitis	Abdominal pain, Splenomegaly, Weight loss, Arthralgia, Panniculitis, Myalgia, Inflammatory abnorm...	ORPHA:33577
Spastic Paraplegia Type 7	Urinary urgency	ORPHA:99013
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Acne, Unilateral renal agenesis, Seborrheic dermatitis, Thr...	OMIM:188400
Holoprosencephaly	Hyponatremia, Hypoplasia of penis, Proteinuria, Failure to thrive in infancy, Congenital diaphrag...	ORPHA:2162
Follicular Lymphoma	Fatigue, Splenomegaly, Night sweats, Weight loss	ORPHA:545
Robinow Syndrome, Autosomal Recessive 1	Cryptorchidism, Nephrolithiasis, Nephrocalcinosis, Hypoplastic labia majora, Clitoral hypoplasia,...	OMIM:268310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Decreased testicular size, Multicystic kidney dysplasia, Elevated circulating creatine kinase con...	OMIM:615287
Melnick-Needles Syndrome	Recurrent otitis media, Failure to thrive, Ureteral stenosis, Hydronephrosis	OMIM:309350
Benign Recurrent Intrahepatic Cholestasis	Fatigue, Abdominal pain, Pancreatitis, Weight loss	ORPHA:65682
Hermansky-Pudlak Syndrome	Fatigue, Renal insufficiency, Menometrorrhagia, Abdominal pain, Weight loss, Neutropenia	ORPHA:79430
Juvenile Polyposis Of Infancy	Refractory anemia, Cachexia, Abdominal pain, Hypoalbuminemia, Freckled genitalia, Anemia	ORPHA:79076
Robinow Syndrome	Multicystic kidney dysplasia, Small scrotum, Small for gestational age, External genital hypoplas...	ORPHA:97360
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Duplicated collecting system, Large for gestational age, Hydrocele testis, Acute lymphoblastic le...	OMIM:280000
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Eczema, Abdominal pain, Thyroiditis, Weight loss, Iron deficiency anemia, Arth...	OMIM:212750
Trisomy 8P	Multiple joint contractures, Cryptorchidism, Fetal pyelectasis, Nephrocalcinosis, Micropenis, Hyd...	ORPHA:264450
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Hemolytic...	ORPHA:2968
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Lung abscess, Abdominal pain, Leukocytosis, Weight loss, Anemia, Chest pain, Hypoa...	ORPHA:67
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Loeffler Endocarditis	Fatigue, Pericarditis, Eosinophilia, Weight loss, Chest pain, Left ventricular hypertrophy	ORPHA:75566
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Chro...	OMIM:614868
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Recurrent aphthous stomatitis, Neutropenia, Monocytopenia...	ORPHA:2688
Mast Cell Sarcoma	Fatigue, Splenomegaly, Mastocytosis, Weight loss	ORPHA:66661
Bone Marrow Failure Syndrome 6	Chronic fatigue, Persistence of hemoglobin F, Increased mean corpuscular volume, Myalgia, Recurre...	OMIM:618849
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent urinary tract infections, Hypospadias, Pneumonia, Cryptorchidism, Nephrolithiasis, Obes...	ORPHA:353281
Arachnoiditis	Urinary bladder sphincter dysfunction	ORPHA:137817
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Leukopenia, Arthralgia, Hashimoto thyroidi...	OMIM:615688
Pandas	Enuresis	ORPHA:66624
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hydroureter, Hypospadias, Diastasis recti, Asplenia, Dilatation of the renal pelvis, Dilatation o...	OMIM:265380
Chronic Graft Versus Host Disease	Fasciitis, Pancytopenia, Phimosis, Abdominal pain, Urinary bladder inflammation, Flexion contract...	ORPHA:99921
Fanconi Anemia	Leukopenia, Abnormality of the uterus, Hypospadias, Cryptorchidism, Azoospermia, Decreased fertil...	ORPHA:84
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux, Webbed...	ORPHA:261552
Immunodeficiency 31C	Fatigue, Skeletal muscle atrophy, Lymphopenia, Osteomyelitis, Impaired lymphocyte transformation ...	OMIM:614162
Primary Sclerosing Cholangitis	Fatigue, Renal insufficiency, Abnormal eosinophil morphology, Abdominal pain, Splenomegaly, Hepat...	ORPHA:171
East Syndrome	Renal salt wasting, Renal magnesium wasting, Enuresis, Abnormal urinary electrolyte concentration...	ORPHA:199343
Spinal Arteriovenous Metameric Syndrome	Urinary bladder sphincter dysfunction, Abnormality of the kidney	ORPHA:53721
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Cryptorchid...	ORPHA:1606
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, ...	ORPHA:818
Systemic Mastocytosis With Associated Hematologic Neoplasm	Fatigue, Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Abdominal pain, S...	ORPHA:98849
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Cryptorchidism, Type 1 muscle fiber atrophy, Hyperhidrosis, Macroglossia, Vesicoureteral reflux, ...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Cryptorchidism, Type 1 muscle fiber atrophy, Hyperhidrosis, Macroglossia, Vesicoureteral reflux, ...	ORPHA:352665
Classical Ehlers-Danlos Syndrome	Fatigue, Osteoarthritis, Cervical insufficiency, Bladder diverticulum, Limb pain, Arthralgia, Ute...	ORPHA:287
Vici Syndrome	Lymphopenia, Failure to thrive, Elevated circulating creatine kinase concentration, Decreased pro...	OMIM:242840
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Episcleritis, Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Ecz...	ORPHA:2273
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Hepatosplenome...	ORPHA:2072
Enamel-Renal Syndrome	Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En...	ORPHA:1031
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Camptodactyly of finger, Cryptorchidism, Hydro...	ORPHA:1507
Gabriele-De Vries Syndrome	Distal lower limb amyotrophy, Facial hypotonia, Decreased response to growth hormone stimulation ...	ORPHA:506358
Syndromic Diarrhea	Gastritis, Small for gestational age, Increased mean platelet volume, Splenomegaly, Renal hypopla...	ORPHA:84064
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Lymphopenia, Aplasia of the thymus, Pneumonia, Eosinophilia, Genital ulcers, Splenomegaly, B lymp...	OMIM:602450
Malignant Peritoneal Mesothelioma	Abdominal pain, Peritonitis, Weight loss	ORPHA:168811
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Autoimmune thro...	OMIM:616100
Jacobsen Syndrome	Multicystic kidney dysplasia, Eczema, Cryptorchidism, Hydronephrosis, Thrombocytopenia	ORPHA:2308
Pulmonary Non-Tuberculous Mycobacterial Infection	Chest pain, Asthenia, Bronchiectasis, Weight loss	ORPHA:411703
Chime Syndrome	Hydronephrosis, Acute leukemia, Abnormality of the kidney	ORPHA:3474
Ebola Hemorrhagic Fever	Acute pancreatitis, Maculopapular exanthema, Abdominal pain, Hepatitis, Leukopenia, Arthralgia, R...	ORPHA:319218
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia...	OMIM:617237
Aymé-Gripp Syndrome	Pericarditis, Proteinuria, Congenital diaphragmatic hernia, Cryptorchidism, Camptodactyly	ORPHA:1272
Spastic Paraplegia 26, Autosomal Recessive	Urinary urgency	OMIM:609195
Huntington Disease	Abnormal circulating cholesterol concentration, Weight loss, Decreased body mass index, Abnormal ...	ORPHA:399
Primary Intestinal Lymphangiectasia	Abdominal pain, Weight loss, Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia,...	ORPHA:90362
3Mc Syndrome 1	Diastasis recti, Hydronephrosis	OMIM:257920
Bullous Pemphigoid	Psoriasiform dermatitis, Eczema, Weight loss	ORPHA:703
Reactive Arthritis	Recurrent urinary tract infections, Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Enthesi...	ORPHA:29207
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Urinary urgency	OMIM:601338
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss, Erythroderma	ORPHA:312
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Uterine prolapse, Decreased serum iron, Precocious puberty, Cryptorchidism, Nephrolithiasis, Anem...	ORPHA:438213
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss	ORPHA:2198
Cardiac Valvular Dysplasia 1	Urethral diverticulum, Hydroureter, Hydronephrosis	OMIM:212093
Stickler Syndrome	Skeletal muscle atrophy, Cachexia, Osteoarthritis, Bone pain, Uveitis, Macroglossia, Arthralgia, ...	ORPHA:828
Pleural Mesothelioma	Constitutional symptom, Chest pain, Weight loss	ORPHA:50251
Cap Polyposis	Abdominal pain, Atrophic gastritis, Weight loss	ORPHA:160148
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Recurrent skin infections, Diastasis recti, Cryptorchidism, Nephrotic syndrome, Distal arthrogryp...	OMIM:601776
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Bronchiectasis, Chronic lymphatic leukemia, Increased proportion of transitional B ...	OMIM:616005
Marfan Syndrome	Skeletal muscle atrophy, Arthralgia/arthritis, Chronic fatigue, Cachexia, Myalgia, Slender build	ORPHA:558
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Flexion contracture, Synovitis, Uveitis, Enth...	ORPHA:85408
Familial Colorectal Cancer Type X	Fatigue, Renal neoplasm, Abdominal pain, Abnormal circulating creatine concentration, Flexion con...	ORPHA:440437
Cln3 Disease	Urinary bladder sphincter dysfunction	ORPHA:228346
Gm1 Gangliosidosis	Camptodactyly of finger, Splenomegaly, Aplasia/Hypoplasia of the abdominal wall musculature, Weig...	ORPHA:354
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, T l...	OMIM:619381
Huntington Disease-Like 2	Weight loss	OMIM:606438
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Urinary urgency	OMIM:619286
Granulomatosis With Polyangiitis	Episcleritis, Fatigue, Sinusitis, Keratitis, Uveitis, Weight loss, Granulomatosis, Conjunctivitis...	OMIM:608710
Charge Syndrome	Bifid scrotum, Hypogonadotropic hypogonadism, Facial palsy, Cryptorchidism, Horseshoe kidney, Lab...	ORPHA:138
Kabuki Syndrome 1	Hemolytic anemia, Crossed fused renal ectopia, Premature thelarche, Autoimmune thrombocytopenia, ...	OMIM:147920
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Skin ras...	ORPHA:35078
Tetrasomy 9P	Renal dysplasia, Fatigue, Recurrent urinary tract infections, Myositis, Pericarditis, Cryptorchid...	ORPHA:3310
Pneumocystosis	Abnormal neutrophil count, Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Chr...	ORPHA:723
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Leukocytosis, Flexion contracture, Renal hypoplasia, Abdominal obesity, Hypoplasia of the ovary, ...	OMIM:619321
Distal Deletion 10Q	Functional abnormality of the bladder, Horseshoe kidney, Enuresis, Vesicoureteral reflux, Acute k...	ORPHA:96148
Secondary Short Bowel Syndrome	Low plasma citrulline, Enterocolitis, Abnormal blood ion concentration, Central hypothyroidism, W...	ORPHA:95427
Rubinstein-Taybi Syndrome 1	Accessory spleen, Hypospadias, Small for gestational age, Premature thelarche, Bilateral cryptorc...	OMIM:180849
Arboleda-Tham Syndrome	Recurrent urinary tract infections, Bilateral cryptorchidism, Lower limb amyotrophy, Upper limb a...	OMIM:616268
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Proteinuria, Elevated hemoglobin A1c, Flexion contracture, Focal segmental ...	OMIM:619127
Autosomal Dominant Spastic Paraplegia Type 10	Urinary urgency, Spastic/hyperactive bladder	ORPHA:100991
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Small scrotum, External genital hypoplasia, Cryptorchidism, Obesity, Hypogonadism, Moderate album...	OMIM:614231
Lacrimoauriculodentodigital Syndrome	Cryptorchidism, Xerostomia, Renal hypoplasia, Keratoconjunctivitis, Arthritis, Keratoconjunctivit...	ORPHA:2363
Orofaciodigital Syndrome I	Ovarian cyst, Proteinuria, Polycystic kidney dysplasia	OMIM:311200
Wiedemann-Rautenstrauch Syndrome	Decreased response to growth hormone stimulation test, Wide penis, Vesicoureteral reflux, Dilatat...	ORPHA:3455
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Precocious puberty, Cryptorchidism, Encopresis, Proteinuria	OMIM:616682
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Chest pain, Bronchiectasis, Weight loss	ORPHA:79127
Graves Disease, Susceptibility To, 1	Increased circulating free T4 concentration, Increased circulating free T3, Weight loss, Hyperhid...	OMIM:275000
Blepharophimosis-Impaired Intellectual Development Syndrome	Enuresis, Recurrent urinary tract infections, Hypospadias	OMIM:619293
Tetraamelia Syndrome 1	Hypoplasia of the fallopian tube, Renal agenesis, Congenital diaphragmatic hernia, Absent externa...	OMIM:273395
Complex Regional Pain Syndrome	Allodynia	ORPHA:83452
Johanson-Blizzard Syndrome	Hypospadias, Small for gestational age, Increased VLDL cholesterol concentration, Urethrovaginal ...	OMIM:243800
Hydrolethalus Syndrome 1	Accessory spleen, Hypospadias, Bifid uterus, Abnormal vagina morphology, Agenesis of the diaphrag...	OMIM:236680
Bone Dysplasia, Lethal Holmgren Type	Failure to thrive, Anemia, Weight loss	ORPHA:1842
Cushing Disease	Increased urinary cortisol level, Acne, Leukocytosis, Increased body weight, Secondary amenorrhea...	ORPHA:96253
Alexander Disease Type Ii	Urinary bladder sphincter dysfunction	ORPHA:363722
Knobloch Syndrome 1	Duplicated collecting system, Bifid ureter, Hydronephrosis, Renal duplication	OMIM:267750
Congenital Disorder Of Glycosylation, Type Iiw	Failure to thrive, Membranoproliferative glomerulonephritis, Microscopic hematuria, Microcytic an...	OMIM:619525
Thymic Carcinoma	Fatigue, Chest pain, Weight loss, Hyperhidrosis	ORPHA:99868
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Pneumonia, Cryptorchi...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Pneumonia, Cryptorchi...	ORPHA:353277
Juvenile Dermatomyositis	Calcinosis, Fatigue, Myositis, Pericarditis, Skin rash, Elevated circulating creatine kinase conc...	ORPHA:93672
Spastic Paraplegia 20, Autosomal Recessive	Urinary urgency	OMIM:275900
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Dilatation of the renal pelvis, Bronchiectasis, Knee flexion contracture, Inflammation of the lar...	OMIM:619708
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Rhabdomyolysis, Hypokalemia, Hyperthyroidism, Weight loss	OMIM:188580
Spastic Paraplegia 84, Autosomal Recessive	Urinary urgency	OMIM:619621
Cardiac-Urogenital Syndrome	Bifid scrotum, Accessory spleen, Penoscrotal hypospadias, Unilateral cryptorchidism, Congenital d...	OMIM:618280
Sarcoidosis, Susceptibility To, 1	Pancytopenia, Iridocyclitis, Splenomegaly, Bronchiectasis, Hypercalciuria, Uveitis, Weight loss, ...	OMIM:181000
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Urinary bladder sphincter dysfunction	ORPHA:52430
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Congenital hypothyroidism, Nephrocalcinosis, A...	ORPHA:79500
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Cryptorchidism, A...	ORPHA:2636
Campomelic Dysplasia	Hypospadias, Contracture of the distal interphalangeal joint of the fingers, Sex reversal, Failur...	OMIM:114290
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Polyuria, Renal salt wasting, Enuresis, Hypocalciuria, Renal sodium wasting, Renal potassium wasting	OMIM:612780
Mesomelia-Synostoses Syndrome	Hydronephrosis	OMIM:600383
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Hyperparathyroidism, Hypercalcemia, Elevated circulating growth...	ORPHA:913
Classic Pantothenate Kinase-Associated Neurodegeneration	Aspiration pneumonia, Weight loss	ORPHA:216866
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	OMIM:600802
Charge Syndrome	Hypoparathyroidism, Renal agenesis, Hypogonadotropic hypogonadism, Decreased response to growth h...	OMIM:214800
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Renal hypoplasia, Renal cyst, Uterus...	ORPHA:93271
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Skeletal muscle atrophy, Cachexia	ORPHA:1969
Hirschsprung Disease	Abdominal pain, Failure to thrive in infancy, Weight loss	ORPHA:388
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Crypto...	ORPHA:709
Hennekam Syndrome	Camptodactyly of finger, Ectopic kidney, Splenomegaly, Horseshoe kidney, Hypocalcemia, Lymphopeni...	ORPHA:2136
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic/hyperactive bladder	ORPHA:137898
Budd-Chiari Syndrome	Abdominal pain, Splenomegaly, Peritonitis, Weight loss, Cholecystitis	ORPHA:131
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Small scrotum, Enlarged labia minora, Cryptorchidi...	OMIM:606170
Spinocerebellar Ataxia, Autosomal Recessive 7	Urinary urgency	OMIM:609270
Kikuchi-Fujimoto Disease	Fatigue, Skin rash, Elevated circulating C-reactive protein concentration, Pustule, Myocarditis, ...	ORPHA:50918
Seckel Syndrome	Cachexia	ORPHA:808
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Cryptorchidism, Thrombocytopenia, Renal hypoplasia, L...	OMIM:620005
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dark urine, Renal insufficiency, Failure to thrive, Conjugated hyperbilirubinemia, Increased circ...	OMIM:619534
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Acquired Hypertrichosis Lanuginosa	Macroglossia, Weight loss, Ovarian neoplasm	ORPHA:2221
Robinow Syndrome, Autosomal Dominant 1	Cryptorchidism, Hypoplastic labia majora, Macroglossia, Clitoral hypoplasia, Micropenis, Hydronep...	OMIM:180700
Intellectual Disability-Alacrima-Achalasia Syndrome	Enuresis	ORPHA:289483
Meckel Syndrome	Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Asple...	ORPHA:564
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Weight loss	ORPHA:704
Common Variable Immunodeficiency	Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimmune thrombocytopenia, Splenomeg...	ORPHA:1572
Coffin-Siris Syndrome 1	Hydroureter, Hypospadias, Congenital diaphragmatic hernia, Ectopic kidney, Cryptorchidism, Renal ...	OMIM:135900
Nocardiosis	Fatigue, Brain abscess, Pericarditis, Osteomyelitis, Liver abscess, Pneumonia, Keratitis, Lymphad...	ORPHA:31204
Vascular Ehlers-Danlos Syndrome	Hypospadias, Cryptorchidism, Osteoarthritis, Cystocele, Aplasia/Hypoplasia of the abdominal wall ...	ORPHA:286
Ataxia-Telangiectasia	Lymphopenia, Sinusitis, Female hypogonadism, Elevated circulating alpha-fetoprotein concentration...	OMIM:208900
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Renal hypoplasia/aplasia, Abnormal renal morphology, Granuloma, Hydronephrosis	ORPHA:363700
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hyperthyroidism, Increased circulating free T4 concentration, Weight loss, Hypokalemia, Increased...	OMIM:613239
Legius Syndrome	Acute monocytic leukemia, Nephrolithiasis, Ovarian neoplasm, Male urethral meatus stenosis, Nephr...	ORPHA:137605
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Enuresis, Renal Fanconi syndrome, Proximal tubulopathy, Organic a...	OMIM:619743
Simpson-Golabi-Behmel Syndrome, Type 1	Hypospadias, Facial hypotonia, Congenital diaphragmatic hernia, Diastasis recti, Cryptorchidism, ...	OMIM:312870
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Poems Syndrome	Fatigue, Thrombocytosis, Polycythemia, Primary adrenal insufficiency, Weight loss, Hypogonadism, ...	ORPHA:2905
Trigeminal Neuralgia	Allodynia	ORPHA:221091
Focal Dermal Hypoplasia	Ureteral duplication, Diastasis recti, Congenital diaphragmatic hernia, Cryptorchidism, Horseshoe...	OMIM:305600
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Gitelman Syndrome	Polyuria, Renal magnesium wasting, Enuresis, Hypocalciuria, Nocturia, Renal potassium wasting	OMIM:263800
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Acne, Leukocytosis, Increased body weight, Secondary amenorrhea...	ORPHA:99889
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Small scrotum, Eczema, Recurrent pneumonia, Hypocalcemia, Hydronephrosis	OMIM:620330
Peters-Plus Syndrome	Ureteral duplication, Hypoplasia of the vagina, Hypospadias, Diastasis recti, Cryptorchidism, Ren...	OMIM:261540
Bronchial Neuroendocrine Tumor	Pneumonia, Elevated circulating growth hormone concentration, Night sweats, Weight loss, Increase...	ORPHA:97287
Tsh-Secreting Pituitary Adenoma	Hyperhidrosis, Male hypogonadism, Fatigue, Hyperthyroidism, Hypogonadotropic hypogonadism, Hypoka...	ORPHA:91347
Congenital Fiber-Type Disproportion Myopathy	Fatigue, Hip contracture, Failure to thrive, Hypoplasia of the musculature, Ankle flexion contrac...	ORPHA:2020
Anaplastic Thyroid Carcinoma	Pain, Weight loss, Abnormal skeletal muscle morphology	ORPHA:142
Multiple Endocrine Neoplasia Type 1	Hypercalcemia, Elevated circulating growth hormone concentration, Abdominal pain, Primary hyperpa...	ORPHA:652
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Exercise intolerance, Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal mus...	OMIM:607459
Osteogenesis Imperfecta, Type Vii	Hydronephrosis	OMIM:610682
Spinocerebellar Ataxia Type 10	Urinary urgency	ORPHA:98761
Congenital Tufting Enteropathy	Arthritis, Punctate keratitis, Failure to thrive, Weight loss	ORPHA:92050
Congenital-Onset Steinert Myotonic Dystrophy	Enuresis	ORPHA:589821
Acrodermatitis Enteropathica	Pustule, Cheilitis, Weight loss, Conjunctivitis, Failure to thrive, Blepharitis	ORPHA:37
Malt Lymphoma	Fatigue, Abdominal pain, Weight loss, Hyperhidrosis, Posterior uveitis, Anemia	ORPHA:52417
Machado-Joseph Disease	Urinary bladder sphincter dysfunction	OMIM:109150
Osteosarcoma	Pain, Weight loss	ORPHA:668
Pelizaeus-Merzbacher Disease	Urinary urgency	OMIM:312080
Inflammatory Pseudotumor Of The Liver	Abdominal pain, Asthenia, Elevated circulating alpha-fetoprotein concentration, Weight loss	ORPHA:90003
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Urinary bladder sphincter dysfunction	ORPHA:64753
Pmm2-Cdg	Pericarditis, Multiple joint contractures, Proteinuria, Hypogonadotropic hypogonadism, Elevated c...	ORPHA:79318
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Bronchiectasis, A...	ORPHA:51636
Tropical Endomyocardial Fibrosis	Fatigue, Eosinophilia, Cachexia, Splenomegaly, Myocardial calcification, Hypoalbuminemia	ORPHA:75565
Anterior Cutaneous Nerve Entrapment Syndrome	Allodynia	ORPHA:51890
Perry Syndrome	Weight loss	ORPHA:178509
Spastic Ataxia, Charlevoix-Saguenay Type	Urinary urgency	OMIM:270550
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Weight loss, Hyperhidrosis, Chronic myelogenous leukemia, C...	ORPHA:71493
Spinocerebellar Ataxia 1	Urinary bladder sphincter dysfunction	OMIM:164400
Parkinson Disease, Late-Onset	Urinary urgency	OMIM:168600
Otopalatodigital Syndrome, Type Ii	Cryptorchidism, Elbow contracture, Hypospadias, Hydronephrosis	OMIM:304120
Glucagonoma	Skin rash, Hypercalcemia, Elevated circulating growth hormone concentration, Chronic fatigue, Aca...	ORPHA:97280
Oromandibular Dystonia	Pain, Torticollis, Weight loss	ORPHA:93958
Neurotrophic Keratopathy	Allodynia	ORPHA:137596
Fraser Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Small scrotum, Cryptorchidism, Re...	ORPHA:2052
Pancreatic Triacylglycerol Lipase Deficiency	Fatigue, Abdominal pain, Weight loss, Iron deficiency anemia, Keratoconjunctivitis sicca, Colitis...	ORPHA:309031
Immunodeficiency 55	Absent natural killer cells, Recurrent skin infections, Eczema, Neutropenia, Lymphopenia	OMIM:617827
Tenorio Syndrome	Enuresis	OMIM:616260
Norrie Disease	Cachexia, Cryptorchidism, Erectile dysfunction, Uterine rupture, Failure to thrive	ORPHA:649
Fragile X-Associated Tremor/Ataxia Syndrome	Pollakisuria, Urinary bladder sphincter dysfunction	ORPHA:93256
Primary Hepatic Neuroendocrine Carcinoma	Chronic fatigue, Elevated circulating alpha-fetoprotein concentration, Night sweats, Episodic abd...	ORPHA:100085
Viss Syndrome	Contracture of the proximal interphalangeal joint of the 2nd toe, Chronic gastritis, Eczema, Hype...	OMIM:619472
Dermatomyositis	Fatigue, Pericarditis, Abnormal eosinophil morphology, Myocarditis, Weight loss, Inflammatory myo...	ORPHA:221
Parkinson Disease 1, Autosomal Dominant	Urinary urgency	OMIM:168601
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Renal dysplasia, Abnormal circulating thyroid hormone concentration, Hydronephrosis	ORPHA:480880
Polycythemia Vera	Fatigue, Abdominal pain, Splenomegaly, Acute leukemia, Weight loss, Arthralgia	ORPHA:729
Mucolipidosis Type Ii	Hip contracture, Diastasis recti, Splenomegaly, Knee flexion contracture, Weight loss, Hepatosple...	ORPHA:576
Familial Pancreatic Carcinoma	Back pain, Chronic fatigue, Abdominal pain, Weight loss, Hepatosplenomegaly, Ovarian carcinoma, P...	ORPHA:1333
Medullary Thyroid Carcinoma	Weight loss, Primary hyperparathyroidism, Hyperhidrosis	ORPHA:1332
Gallbladder Neuroendocrine Tumor	Episodic abdominal pain, Chronic fatigue, Cholecystitis, Weight loss	ORPHA:100086
Vaginal Atresia	Cervicitis, Vaginal hematocele, Abdominal pain, Transverse vaginal septum, Uterus didelphys, Prim...	ORPHA:65681
Glossopharyngeal Neuralgia	Episodic pain, Ear pain, Weight loss, Tongue pain, Mandibular pain	ORPHA:221098
Lynch Syndrome	Fatigue, Abdominal pain, Flexion contracture, Weight loss, Ovarian neoplasm	ORPHA:144
Friedreich Ataxia	Urinary bladder sphincter dysfunction	ORPHA:95
Citrullinemia Type Ii	Enuresis	ORPHA:247585
Oculopharyngodistal Myopathy 1	Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase concentration, Weight los...	OMIM:164310
Reynolds Syndrome	Calcinosis, Erythema nodosum, Splenomegaly, Arthralgia, Asthenia, Hyperbilirubinemia, Lymphopenia	OMIM:613471
Tropical Pancreatitis	Epigastric pain, Chronic calcifying pancreatitis, Weight loss	ORPHA:103918
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Fatigue, Chest pain, Weight loss	ORPHA:747
Perry Syndrome	Weight loss	OMIM:168605
Adult-Onset Autosomal Dominant Leukodystrophy	Urinary urgency, Recurrent urinary tract infections, Urinary retention	ORPHA:99027
Vipoma	Chronic fatigue, Hypercalcemia, Elevated circulating growth hormone concentration, Increased circ...	ORPHA:97282
Short Syndrome	Weight loss	ORPHA:3163
Superficial Siderosis	Functional abnormality of the bladder	ORPHA:247245
Somatostatinoma	Chronic fatigue, Hypercalcemia, Elevated circulating growth hormone concentration, Increased circ...	ORPHA:97283
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi...	ORPHA:424
Neuroendocrine Tumor Of The Colon	Abdominal pain, Weight loss	ORPHA:100080
Gerstmann-Straussler Disease	Lower limb muscle weakness, Weight loss	OMIM:137440
Neuroendocrine Tumor Of The Rectum	Abdominal pain, Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Abdominal pain, Weight loss	ORPHA:100082
Klatskin Tumor	Fatigue, Abdominal pain, Weight loss	ORPHA:99978
Ppoma	Hypercalcemia, Elevated circulating growth hormone concentration, Increased circulating gonadotro...	ORPHA:97278
Neuroendocrine Tumor Of Stomach	Iron deficiency anemia, Episodic abdominal pain, Weight loss	ORPHA:100075
Grfoma	Hypercalcemia, Elevated circulating growth hormone concentration, Increased circulating gonadotro...	ORPHA:97261
Autosomal Dominant Progressive External Ophthalmoplegia	Nocturia	ORPHA:254892
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Peroneal muscle atrophy, Acanthocytosis, Sple...	ORPHA:2388
Familial Gestational Hyperthyroidism	Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Activating thyroid-stimulating hormone recep...	ORPHA:99819
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Enuresis	ORPHA:369950
Isolated Posterior Meningocele	Enuresis	ORPHA:268810
Carney-Stratakis Syndrome	Abdominal pain, Weight loss	ORPHA:97286
Pancreatoblastoma	Abdominal pain, Elevated maternal serum alpha-fetoprotein, Weight loss	ORPHA:677
Benign Schwannoma	Allodynia	ORPHA:252164
Hutchinson-Gilford Progeria Syndrome	Female hypogonadism, Hip pain, Osteoarthritis, Weight loss, Hypoplastic male external genitalia, ...	ORPHA:740
Parkinson Disease 14, Autosomal Recessive	Nocturia	OMIM:612953
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Urinary urgency, Micropenis, Pelvic kidney, Unilateral renal agenesis	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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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

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