Auditory Neuropathy, Autosomal Dominant, 1 |
|
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... |
OMIM:609129 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
Enuresis, Nocturnal, 1 |
|
Enuresis nocturna |
OMIM:600631 |
Enuresis, Nocturnal, 2 |
|
Enuresis nocturna |
OMIM:600808 |
Spastic Paraplegia 13, Autosomal Dominant |
|
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction |
OMIM:605280 |
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A |
|
Urinary incontinence, Urinary urgency |
OMIM:156310 |
Spastic Paraplegia 19, Autosomal Dominant |
|
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction |
OMIM:607152 |
Spastic Paraplegia 12, Autosomal Dominant |
|
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction |
OMIM:604805 |
Spastic Paraplegia 41, Autosomal Dominant |
|
Urinary urgency |
OMIM:613364 |
Spastic Paraplegia 72, Autosomal Recessive |
|
Urinary bladder sphincter dysfunction |
OMIM:615625 |
Spastic Paraplegia 8, Autosomal Dominant |
|
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction |
OMIM:603563 |
Spastic Paraplegia 37, Autosomal Dominant |
|
Urinary incontinence, Urinary urgency |
OMIM:611945 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency |
|
Urinary bladder sphincter dysfunction |
ORPHA:284282 |
Autosomal Dominant Spastic Paraplegia Type 13 |
|
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction |
ORPHA:100994 |
Spastic Paraplegia 27, Autosomal Recessive |
|
Spastic/hyperactive bladder |
OMIM:609041 |
Autosomal Recessive Frontotemporal Pachygyria |
|
Pachygyria, Urinary incontinence |
ORPHA:329329 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction |
OMIM:600363 |
Urofacial Syndrome 2 |
|
Hydronephrosis, Urinary urgency, Recurrent urinary tract infections, Vesicoureteral reflux, Enure... |
OMIM:615112 |
Spastic Paraplegia 36, Autosomal Dominant |
|
Urinary incontinence, Urinary urgency |
OMIM:613096 |
X-Linked Spastic Paraplegia Type 16 |
|
Functional abnormality of the bladder |
ORPHA:100997 |
Spastic Paraplegia 10, Autosomal Dominant |
|
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction |
OMIM:604187 |
Spastic Paraplegia 3, Autosomal Dominant |
|
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction |
OMIM:182600 |
Non-Syndromic Genetic Deafness |
|
Conductive hearing impairment, Moderate hearing impairment, High-frequency hearing impairment, Ch... |
ORPHA:87884 |
Lower Urinary Tract Obstruction, Congenital |
|
Urethral stenosis, Congenital posterior urethral valve, Pollakisuria, Urinary incontinence, Vesic... |
OMIM:618612 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction |
OMIM:607565 |
Apnea, Central Sleep |
|
Urinary incontinence |
OMIM:207720 |
Siddiqi Syndrome |
|
Urinary incontinence |
OMIM:618635 |
Spastic Paraplegia 83, Autosomal Recessive |
|
Myalgia, Urinary urgency |
OMIM:619027 |
Hydrocephalus, Normal-Pressure, 1 |
|
Bowel incontinence, Urinary incontinence |
OMIM:236690 |
Spastic Paraplegia 4, Autosomal Dominant |
|
Low back pain, Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction |
OMIM:182601 |
Autosomal Recessive Spastic Paraplegia Type 27 |
|
Spastic/hyperactive bladder |
ORPHA:101007 |
Intellectual Developmental Disorder, X-Linked 29 |
|
Urinary incontinence |
OMIM:300419 |
Autosomal Dominant Spastic Paraplegia Type 73 |
|
Urinary incontinence, Urinary urgency |
ORPHA:444099 |
Multiple Sclerosis, Susceptibility To |
|
Urinary incontinence, Urinary hesitancy |
OMIM:126200 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Hearing impairment |
OMIM:600501 |
Spastic Paraplegia 16, X-Linked |
|
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction |
OMIM:300266 |
Ochoa Syndrome |
|
Hydronephrosis, Recurrent urinary tract infections, Urinary incontinence, Vesicoureteral reflux, ... |
ORPHA:2704 |
Autosomal Dominant Spastic Paraplegia Type 4 |
|
Urinary urgency, Urinary bladder sphincter dysfunction |
ORPHA:100985 |
Isolated Epispadias |
|
Urinary incontinence, Anteriorly displaced urethral meatus, Epispadias, Vesicoureteral reflux |
ORPHA:93928 |
Amyotrophic Dystonic Paraplegia |
|
Bowel incontinence, Urinary incontinence |
OMIM:105300 |
Autosomal Spastic Paraplegia Type 72 |
|
Pain, Urinary bladder sphincter dysfunction |
ORPHA:401849 |
Posterior Urethral Valve |
|
Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat... |
ORPHA:93110 |
Spastic Paraplegia 80, Autosomal Dominant |
|
Urinary urgency |
OMIM:618418 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Autosomal Recessive Spastic Paraplegia Type 48 |
|
Urinary incontinence, Urinary bladder sphincter dysfunction |
ORPHA:306511 |
Autosomal Dominant Spastic Paraplegia Type 36 |
|
Urinary incontinence, Urinary urgency |
ORPHA:320365 |
Glaucoma 3, Primary Congenital, E |
|
Edema, Megalocornea, Ocular hypertension |
OMIM:617272 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Urinary incontinence |
ORPHA:100988 |
3-Methylglutaconic Aciduria, Type Ix |
|
3-Methylglutaconic aciduria, Urinary incontinence |
OMIM:617698 |
Spastic Paraplegia 48, Autosomal Recessive |
|
Urinary incontinence |
OMIM:613647 |
Autosomal Recessive Spastic Paraplegia Type 76 |
|
Functional abnormality of the bladder |
ORPHA:488594 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Chronic kidney disease, Abdominal pain, Abnormal nephron morphol... |
ORPHA:93108 |
Hinman Syndrome |
|
Hydronephrosis, Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Bowel incont... |
ORPHA:84085 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Urinary incontinence |
OMIM:616688 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Urinary incontinence |
OMIM:613115 |
Interstitial Cystitis |
|
Urinary bladder inflammation, Urinary urgency, Pollakisuria, Pain, Functional abnormality of the ... |
ORPHA:37202 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Urinary incontinence |
OMIM:615284 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Nocturia, Urinary incontinence, Urinary urgency, Urinary hesitancy |
OMIM:609727 |
Spastic Paraplegia 31, Autosomal Dominant |
|
Urinary urgency |
OMIM:610250 |
Adult Polyglucosan Body Disease |
|
Urinary incontinence, Urinary bladder sphincter dysfunction, Neurogenic bladder |
ORPHA:206583 |
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Urinary incontinence, Low back pain |
OMIM:600142 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Urinary incontinence, Dysuria, Abnormality of the urethra, Urinary retention |
ORPHA:2795 |
Spastic Paraplegia 76, Autosomal Recessive |
|
Urinary incontinence |
OMIM:616907 |
Autosomal Dominant Spastic Paraplegia Type 8 |
|
Urinary incontinence, Urinary urgency |
ORPHA:100989 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction |
OMIM:604360 |
Adenine Phosphoribosyltransferase Deficiency |
|
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... |
ORPHA:976 |
Bladder Diverticulum |
|
Urethral sphincter sclerosis, Urinary hesitancy, Hematuria, Dysuria, Recurrent urinary tract infe... |
OMIM:109820 |
3-Methylglutaconic Aciduria Type 9 |
|
3-Methylglutaconic aciduria, Urinary incontinence |
ORPHA:505216 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Urinary incontinence |
OMIM:249900 |
Spastic Paraplegia 5A, Autosomal Recessive |
|
Urinary incontinence |
OMIM:270800 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Urinary incontinence, Urinary urgency |
OMIM:612319 |
Spastic Paraplegia 44, Autosomal Recessive |
|
Urinary incontinence |
OMIM:613206 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Urinary incontinence |
OMIM:607225 |
Spinocerebellar Ataxia 42 |
|
Urinary incontinence, Urinary urgency |
OMIM:616795 |
Vestibulocochlear Dysfunction, Progressive |
|
Progressive hearing impairment, Tinnitus, Vestibular areflexia |
OMIM:193005 |
Perineural Cyst |
|
Urinary bladder sphincter dysfunction, Sciatica, Lower limb pain, Anal pain, Recurrent urinary tr... |
ORPHA:65250 |
Pure Autonomic Failure |
|
Constitutional symptom, Urinary incontinence, Dysuria |
ORPHA:441 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
Peroxisome Biogenesis Disorder 14B |
|
Urinary incontinence |
OMIM:614920 |
Neuronal Intranuclear Inclusion Disease |
|
Urinary incontinence |
OMIM:603472 |
Spastic Paraplegia 15, Autosomal Recessive |
|
Bowel incontinence, Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction |
OMIM:270700 |
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Urinary incontinence |
ORPHA:352641 |
Baralle-Macken Syndrome |
|
Urinary incontinence |
OMIM:619255 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Deafness, Autosomal Recessive 103 |
|
Sensorineural hearing impairment, Vestibular dysfunction, Vestibular areflexia |
OMIM:616042 |
Neural Tube Defects, Susceptibility To |
|
Urinary incontinence |
OMIM:182940 |
Spinocerebellar Ataxia 48 |
|
Urinary incontinence |
OMIM:618093 |
Childhood Disintegrative Disorder |
|
Bowel incontinence, Urinary incontinence |
ORPHA:168782 |
Duplication Of Urethra |
|
Hypospadias, Bladder duplication, Chordee, Hypertrophy of the urinary bladder, Anuria, Pain, Dysu... |
ORPHA:237 |
Orofaciodigital Syndrome Xviii |
|
Urinary incontinence |
OMIM:617927 |
Autosomal Dominant Spastic Paraplegia Type 12 |
|
Bowel incontinence, Urinary incontinence, Urinary urgency |
ORPHA:100993 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Urinary incontinence |
OMIM:600795 |
Syringomyelia, Noncommunicating Isolated |
|
Neck pain, Urinary incontinence |
OMIM:186700 |
Unilateral Focal Polymicrogyria |
|
Urinary incontinence |
ORPHA:268947 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial palsy |
OMIM:617519 |
Immunoneurologic Disorder, X-Linked |
|
Functional abnormality of the bladder |
OMIM:300076 |
Spinocerebellar Ataxia 10 |
|
Urinary incontinence, Urinary urgency |
OMIM:603516 |
Spastic Paraplegia 54, Autosomal Recessive |
|
Bowel incontinence, Urinary incontinence |
OMIM:615033 |
Spastic Paraplegia 7, Autosomal Recessive |
|
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction |
OMIM:607259 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment |
OMIM:601455 |
Microphthalmia, Isolated 6 |
|
Microcornea, Ocular hypertension |
OMIM:613517 |
Huntington Disease-Like 3 |
|
Bowel incontinence, Urinary incontinence |
OMIM:604802 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Urinary incontinence |
OMIM:614409 |
Urofacial Syndrome 1 |
|
Urethral valve, Hydronephrosis, Recurrent urinary tract infections, Enuresis, Urethral obstructio... |
OMIM:236730 |
Foix-Alajouanine Syndrome |
|
Urinary retention, Back pain, Urinary incontinence, Functional abnormality of the bladder, Bowel ... |
ORPHA:79093 |
Neovascular Glaucoma |
|
Iris neovascularization, Ocular hypertension, Corneal stromal edema |
ORPHA:94058 |
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement |
|
Sensorineural hearing impairment, Vestibular areflexia |
OMIM:609006 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Urinary incontinence |
OMIM:617145 |
Primary Hyperoxaluria Type 3 |
|
Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H... |
ORPHA:93600 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Microcornea, Ocular hypertension |
OMIM:602499 |
Spinocerebellar Ataxia 17 |
|
Urinary incontinence |
OMIM:607136 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Urinary incontinence |
OMIM:243000 |
Porphyria, Acute Intermittent |
|
Urinary retention, Dysuria, Urinary incontinence, Abdominal pain, Elevated urinary delta-aminolev... |
OMIM:176000 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Urinary incontinence |
OMIM:221770 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment |
OMIM:125250 |
X-Linked Immunoneurologic Disorder |
|
Functional abnormality of the bladder |
ORPHA:2571 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Urinary incontinence |
ORPHA:320391 |
Camptobrachydactyly |
|
Urinary incontinence |
OMIM:114150 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Urinary incontinence |
ORPHA:464282 |
Neuromyelitis Optica Spectrum Disorder |
|
Functional abnormality of the bladder, Ocular pain, Recurrent singultus |
ORPHA:71211 |
Spinocerebellar Ataxia 25 |
|
Urinary urgency |
OMIM:608703 |
Dopa-Responsive Dystonia |
|
Urinary incontinence, Fatigue, Pain |
ORPHA:255 |
Exfoliation Syndrome |
|
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Cataract,... |
OMIM:177650 |
Spinocerebellar Ataxia Type 25 |
|
Episodic abdominal pain, Urinary urgency |
ORPHA:101111 |
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Bowel incontinence, Urinary incontinence |
OMIM:618868 |
Intellectual Developmental Disorder, X-Linked 90 |
|
Enuresis |
OMIM:300850 |
Huntington Disease-Like 3 |
|
Bowel incontinence, Urinary incontinence |
ORPHA:157946 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Ocular hypertension, Iris coloboma |
OMIM:610023 |
Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Phakodonesis, Ocular hypertension, Ectopia lentis |
OMIM:613195 |
Glaucoma 1, Primary Open Angle, C |
|
Ocular hypertension |
OMIM:601682 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Facial palsy, Heari... |
OMIM:601596 |
3-Methylglutaconic Aciduria, Type I |
|
3-Methylglutaconic aciduria, Urinary incontinence |
OMIM:250950 |
Ketamine-Induced Biliary Dilatation |
|
Dysuria, Abdominal pain |
ORPHA:293807 |
Familial Cold Urticaria |
|
Pruritus, Dehydration, Polydipsia, Conjunctivitis |
ORPHA:47045 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Urinary incontinence, Urinary urgency |
OMIM:606071 |
Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle, Ocular hypertension |
OMIM:156600 |
Small Cell Carcinoma Of The Bladder |
|
Recurrent urinary tract infections, Hematuria, Dysuria, Abdominal pain |
ORPHA:284400 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Myalgia, Bowel incontinence, Urinary incontinence, Back pain |
ORPHA:329478 |
Myopathy, Myofibrillar, 7 |
|
Myalgia, Bowel incontinence, Urinary incontinence, Enuresis nocturna |
OMIM:617114 |
Paganini-Miozzo Syndrome |
|
Urinary incontinence |
OMIM:301025 |
Renal Glucosuria |
|
Polyuria, Enuresis nocturna, Glycosuria |
OMIM:233100 |
Weill-Marchesani Syndrome 3 |
|
Ocular hypertension, Ectopia lentis, Microspherophakia, Pulmonic stenosis, Aortic valve stenosis |
OMIM:614819 |
Adrenoleukodystrophy |
|
Bowel incontinence, Urinary incontinence, Urinary bladder sphincter dysfunction |
OMIM:300100 |
Glaucoma 1, Open Angle, F |
|
Ocular hypertension |
OMIM:603383 |
Chiari Malformation Type I |
|
Neck pain, Urinary incontinence |
OMIM:118420 |
Irvan Syndrome |
|
Ocular hypertension, Macular edema |
ORPHA:209943 |
Spinocerebellar Ataxia Type 19/22 |
|
Urinary incontinence |
ORPHA:98772 |
Birdshot Chorioretinopathy |
|
Cystoid macular edema, Cataract, Ocular hypertension |
ORPHA:179 |
Acute Intermittent Porphyria |
|
Limb pain, Urinary retention, Dysuria, Porphyrinuria, Back pain, Dark urine, Increased urinary po... |
ORPHA:79276 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Urinary incontinence |
ORPHA:98 |
Uveal Melanoma |
|
Mydriasis, Ocular hypertension, Zonular cataract, Vitreous hemorrhage, Iris melanoma, Inferior le... |
ORPHA:39044 |
Pudendal Neuralgia |
|
Pollakisuria, Dysuria, Back pain, Episodic abdominal pain, Vulvodynia, Abdominal colic, Scrotal pain |
ORPHA:60039 |
Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Vestibular dysfunction, Abnormality of somatosensory evoked potentials, Absent bra... |
ORPHA:52368 |
Pediatric-Onset Graves Disease |
|
Hypertension, Increased circulating T4 level, Atrial fibrillation, Goiter, Polyphagia, Palpitatio... |
ORPHA:525731 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Bowel incontinence, Urinary incontinence |
ORPHA:289560 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Recurrent urinary tract infections, Urinary incontinence |
OMIM:609033 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Urinary incontinence |
OMIM:213600 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Urinary urgency |
OMIM:605909 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Polydipsia, Abnormal circulating reni... |
ORPHA:403 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Bowel incontinence, Urinary incontinence, Polymicrogyria |
OMIM:618877 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Urinary incontinence |
OMIM:125310 |
Adrenomyeloneuropathy |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary retention, Back pain, Urinary inc... |
ORPHA:139399 |
Posterior Polymorphous Corneal Dystrophy |
|
Ocular hypertension, Corneal stromal edema, Reduced number of corneal endothelial cells, Increase... |
ORPHA:98973 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Urinary incontinence, Urinary urgency |
OMIM:601162 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Urinary urgency, Pollakisuria, Urinary incontinence, Lower limb pain, Low back pain |
ORPHA:447753 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Urinary incontinence |
OMIM:604320 |
Type 1 Diabetes Mellitus |
|
Polyphagia, Diabetes mellitus, Polydipsia |
OMIM:222100 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Urinary incontinence, Detrusor sphincter dyssynergia, Neurogenic bladder |
ORPHA:466722 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Urinary bladder sphincter dysfunction |
OMIM:610357 |
Medullary cystic kidney disease 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ... |
OMIM:603860 |
Nephronophthisis 3 |
|
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... |
OMIM:604387 |
Fragile X Tremor/Ataxia Syndrome |
|
Myalgia, Bowel incontinence, Urinary incontinence |
OMIM:300623 |
Spinocerebellar Ataxia Type 42 |
|
Urinary incontinence, Urinary urgency |
ORPHA:458803 |
X-Linked Non-Syndromic Intellectual Disability |
|
Urinary incontinence |
ORPHA:777 |
Sandhoff Disease |
|
Episodic abdominal pain, Urinary incontinence, Exaggerated startle response |
OMIM:268800 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Urinary incontinence |
OMIM:105210 |
Spinocerebellar Ataxia Type 13 |
|
Urinary incontinence, Urinary urgency |
ORPHA:98768 |
Brain-Lung-Thyroid Syndrome |
|
Hypoparathyroidism, Abnormal drinking behavior, Congenital hypothyroidism, Neonatal respiratory d... |
ORPHA:209905 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Urinary incontinence |
OMIM:301041 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Urinary incontinence, Abnormal vestibulo-ocular reflex |
ORPHA:247234 |
Autosomal Dominant Spastic Paraplegia Type 41 |
|
Urinary urgency |
ORPHA:320355 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Prolonged QT interval, Polydipsia, Ab... |
ORPHA:251274 |
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
|
Urinary urgency |
ORPHA:314603 |
Mental Retardation With Language Impairment And With Or Without Autistic Features |
|
Enuresis |
OMIM:613670 |
Central Diabetes Insipidus |
|
Dehydration, Diabetes insipidus, Polydipsia |
ORPHA:178029 |
Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the outer ear, Ab... |
OMIM:201050 |
Marchiafava-Bignami Disease |
|
Urinary incontinence |
ORPHA:221074 |
Spastic Ataxia 3, Autosomal Recessive |
|
Urinary urgency |
OMIM:611390 |
Autosomal Dominant Spastic Paraplegia Type 37 |
|
Fatigue, Urinary urgency |
ORPHA:171612 |
Cystinosis |
|
Polydipsia, Corneal opacity, Nephrogenic diabetes insipidus, Type I diabetes mellitus, Hypothyroi... |
ORPHA:213 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses, Temporal op... |
ORPHA:1215 |
Hereditary Central Diabetes Insipidus |
|
Diabetes insipidus, Polydipsia |
ORPHA:30925 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Macroscopic hematuria, Dysuria, Acute kidney injury, Uric acid nephrolithiasis, Nephropathy, Rena... |
ORPHA:79233 |
Autosomal Dominant Centronuclear Myopathy |
|
Exercise-induced myalgia, Urinary incontinence |
ORPHA:169189 |
Encephalitis Lethargica |
|
Myalgia, Bowel incontinence, Urinary incontinence, Limb pain |
ORPHA:83600 |
Adult Krabbe Disease |
|
Urinary incontinence |
ORPHA:206448 |
Spinal Arteriovenous Metameric Syndrome |
|
Urinary bladder sphincter dysfunction, Arthralgia, Fatigue, Gangrene, Abnormality of the kidney, ... |
ORPHA:53721 |
Exstrophy-Epispadias Complex |
|
Bladder duplication, Horseshoe kidney, Renal hypoplasia, Abnormality of the ureter, Absent penis,... |
ORPHA:322 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Stress urinary incontinence |
ORPHA:136 |
Nephronophthisis-Like Nephropathy 2 |
|
Cough, Polydipsia, Bronchiectasis |
OMIM:619468 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Bowel incontinence, Urinary incontinence |
OMIM:300243 |
Congenital Microcoria |
|
Nuclear cataract, Developmental cataract, Ocular hypertension, Corneal stromal edema, Iris transi... |
ORPHA:566 |
Autosomal Recessive Ataxia, Beauce Type |
|
Urinary incontinence |
ORPHA:88644 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Urinary incontinence |
ORPHA:98784 |
Cog5-Cdg |
|
Urinary incontinence, Micropenis, Neurogenic bladder |
ORPHA:263487 |
Senior-Loken Syndrome 3 |
|
Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney disease, Enuresis, Polyuria |
OMIM:606995 |
Anterior Segment Dysgenesis 7 |
|
Sclerocornea, Microcornea, Cataract, Ocular hypertension |
OMIM:269400 |
Childhood Absence Epilepsy |
|
Urinary incontinence |
ORPHA:64280 |
Roussy-Lévy Syndrome |
|
Urinary bladder sphincter dysfunction |
ORPHA:3115 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Polydipsia, Abnormal circulating reni... |
ORPHA:369929 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Idiopathic Anterior Uveitis |
|
Nuclear cataract, Posterior subcapsular cataract, Ocular hypertension, Macular edema, Posterior s... |
ORPHA:280914 |
Bardet-Biedl Syndrome 9 |
|
Astigmatism, Polydipsia, Cataract, Polyphagia |
OMIM:615986 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Bowel incontinence, Urinary incontinence, Enuresis nocturna, Pollakisuria |
ORPHA:171629 |
Anterior Segment Dysgenesis 2 |
|
Ocular hypertension, Aniridia, Congenital aphakia, Sclerocornea, Posterior synechiae of the anter... |
OMIM:610256 |
Metachromatic Leukodystrophy |
|
Urinary incontinence |
OMIM:250100 |
Primary Progressive Freezing Gait |
|
Urinary incontinence |
ORPHA:75567 |
Spinocerebellar Ataxia Type 8 |
|
Urinary incontinence |
ORPHA:98760 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Hypertension, Decreased circulating renin level, Polydipsia, Palpitations, E... |
ORPHA:231580 |
Arachnoid Cyst |
|
Urinary bladder sphincter dysfunction, Sciatica, Back pain, Urinary incontinence, Lower limb pain... |
ORPHA:2356 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Bowel incontinence, Urinary incontinence |
OMIM:617193 |
Multiple System Atrophy 1, Susceptibility To |
|
Urinary incontinence, Urinary urgency |
OMIM:146500 |
Senior-Loken Syndrome 1 |
|
Polydipsia |
OMIM:266900 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Urinary incontinence |
ORPHA:300605 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Bowel incontinence, Urinary incontinence, Neurogenic bladder |
ORPHA:496641 |
Pandas |
|
Enuresis, Arthralgia, Encopresis |
ORPHA:66624 |
Whipple Disease |
|
Myocarditis, Pericarditis, Respiratory insufficiency, Polydipsia, Cough, Myocardial infarction, G... |
ORPHA:3452 |
Arachnoiditis |
|
Arthralgia, Fatigue, Urinary bladder sphincter dysfunction |
ORPHA:137817 |
Primary Hyperoxaluria Type 1 |
|
Hyperoxaluria, Nephrocalcinosis, Hematuria, Decreased glomerular filtration rate, Dysuria, Nephro... |
ORPHA:93598 |
Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber, Ocular hypertension |
OMIM:618880 |
Spastic Paraplegia Type 2 |
|
Bowel incontinence, Spastic/hyperactive bladder |
ORPHA:99015 |
Benign Schwannoma |
|
Abnormal cranial nerve morphology, Vestibular Schwannoma, Facial palsy, Vertigo, Abnormality of p... |
ORPHA:252164 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Recurrent urinary tract infections, Allodynia, Abdominal pain, Back pain |
ORPHA:51890 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Low intraocular pressure, Ectopia lentis |
OMIM:601552 |
Nephrogenic Diabetes Insipidus |
|
Polydipsia, Hypernatremic dehydration, Polyhydramnios, Nephrogenic diabetes insipidus, Hypovolemia |
ORPHA:223 |
Dural Sinus Malformation |
|
Cerebral hemorrhage, Intracranial hemorrhage, Ocular hypertension, Subdural hemorrhage, Chemosis,... |
ORPHA:97339 |
Panhypophysitis |
|
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Decreased circul... |
ORPHA:95513 |
Senior-Loken Syndrome 4 |
|
Polydipsia |
OMIM:606996 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Urinary incontinence |
ORPHA:225147 |
Trigeminal Neuralgia |
|
Allodynia, Mandibular pain, Trigeminal neuralgia, Ocular pain |
ORPHA:221091 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hypertension, Polydipsia, Decreased circulating renin level, Hyperaldosteronism |
OMIM:613677 |
Charcot-Marie-Tooth Disease Type 1F |
|
Urinary incontinence |
ORPHA:101085 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Functional abnormality of the bladder |
ORPHA:100996 |
Phacoanaphylactic Uveitis |
|
Retinal arteritis, Conjunctival hyperemia, Corneal keratic precipitates, Ocular hypertension, Cor... |
ORPHA:209959 |
Autosomal Dominant Spastic Paraplegia Type 3 |
|
Urinary urgency |
ORPHA:100984 |
Complex Regional Pain Syndrome |
|
Allodynia, Limb pain |
ORPHA:83452 |
Metachromatic Leukodystrophy |
|
Limb pain, Pain, Urinary incontinence, Bowel incontinence, Impaired continence |
ORPHA:512 |
Epilepsy, Progressive Myoclonic, 10 |
|
Urinary incontinence |
OMIM:616640 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Urinary incontinence |
ORPHA:309256 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Urinary incontinence |
ORPHA:309263 |
Late-Infantile/Juvenile Krabbe Disease |
|
Tremor, EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prol... |
ORPHA:206443 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Urinary incontinence, Steroid-dependent nephrotic syndrome |
OMIM:300912 |
Xq28 (MECP2) duplication |
|
Functional abnormality of the bladder |
DECIPHER:45 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Urinary incontinence |
OMIM:618885 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Head titubat... |
ORPHA:99027 |
Gitelman Syndrome |
|
Renal Fanconi syndrome, Focal segmental glomerulosclerosis, Tubulointerstitial nephritis, Renal t... |
ORPHA:358 |
Currarino Syndrome |
|
Horseshoe kidney, Recurrent urinary tract infections, Urinary incontinence, Vesicoureteral reflux... |
OMIM:176450 |
Idiopathic Panuveitis |
|
Conjunctival hyperemia, Ocular hypertension, Posterior synechiae of the anterior chamber, Cystoid... |
ORPHA:280921 |
Metachromatic Leukodystrophy, Adult Form |
|
Bowel incontinence, Urinary incontinence |
ORPHA:309271 |
Apparent Mineralocorticoid Excess |
|
Hypertension, Decreased circulating aldosterone level, Polydipsia, Decreased circulating renin le... |
ORPHA:320 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Urinary incontinence |
ORPHA:476126 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Urinary urgency |
OMIM:617225 |
Autosomal Dominant Spastic Paraplegia Type 19 |
|
Urinary urgency |
ORPHA:100999 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypertonic dehydration, Diabetes insipidus, Polydipsia |
OMIM:304800 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypertonic dehydration, Nephrogenic diabetes insipidus, Polydipsia |
OMIM:125800 |
Amelogenesis Imperfecta, Type Ig |
|
Nephrocalcinosis, Impaired renal concentrating ability, Enuresis, Polyuria, Renal insufficiency |
OMIM:204690 |
Neuroleptic Malignant Syndrome |
|
Myoglobinuria, Urinary incontinence, Acute kidney injury, Fatigue, Proteinuria, Rigors |
ORPHA:94093 |
Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Ocular hypertension |
OMIM:107250 |
Hyperostosis Cranialis Interna |
|
Ocular hypertension |
OMIM:144755 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Central diabetes insipidus, Polydipsia |
OMIM:304900 |
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
Urinary urgency, Simplified gyral pattern |
OMIM:619286 |
Acute Transverse Myelitis |
|
Urinary bladder sphincter dysfunction, Urinary retention, Back pain, Urinary incontinence, Fatigue |
ORPHA:139417 |
Arnold-Chiari Malformation Type I |
|
Neck pain, Urinary incontinence |
ORPHA:268882 |
Erdheim-Chester Disease |
|
Diabetes insipidus, Polydipsia, Hypogonadotropic hypogonadism, Cough, Congestive heart failure, S... |
ORPHA:35687 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:619260 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Hypospadias, Hydronephrosis, Renal agenesis, Chordee, Pelvic kidney, Exaggerated startle response... |
OMIM:619522 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria |
ORPHA:95626 |
Oculoauricular Syndrome |
|
Iris cyst, Developmental cataract, Posterior embryotoxon, Ocular hypertension, Microphakia, Scler... |
OMIM:612109 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Spastic Paraplegia Type 7 |
|
Lower limb pain, Urinary urgency |
ORPHA:99013 |
Malakoplakia |
|
Urinary bladder inflammation, Urinary urgency, Urinary hesitancy, Hematuria, Dysuria, Proteinuria... |
ORPHA:556 |
Neurotrophic Keratopathy |
|
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Corneal scarring, Allody... |
ORPHA:137596 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Urinary incontinence |
ORPHA:314404 |
East Syndrome |
|
Salt craving, Increased circulating renin level, Polydipsia, Hyperaldosteronism |
ORPHA:199343 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Astigmatism, Recurrent skin infections, Pneumothorax, Ocular hypertension |
ORPHA:2953 |
Orthostatic Hypotension 1 |
|
Nocturia |
OMIM:223360 |
Wolfram Syndrome |
|
Central apnea, Diabetes insipidus, Polydipsia, Respiratory insufficiency, Cardiomyopathy, Hypogon... |
ORPHA:3463 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Urinary urgency |
OMIM:609195 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular fil... |
ORPHA:85450 |
Renal Hypoplasia |
|
Hypertension, Dehydration, Polydipsia |
ORPHA:93101 |
Juvenile Glaucoma |
|
Ocular hypertension, Abnormality iris morphology |
ORPHA:98977 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Urinary incontinence, Fatigue |
ORPHA:466768 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Split Cord Malformation |
|
Hypospadias, Horseshoe kidney, Hydronephrosis, Detrusor sphincter dyssynergia, Renal duplication,... |
ORPHA:573278 |
Infantile Krabbe Disease |
|
Optic atrophy, Opisthotonus, Decreased nerve conduction velocity, Hearing impairment, Prolonged b... |
ORPHA:206436 |
Gitelman Syndrome |
|
Prolonged QT interval, Polydipsia, Palpitations, Ventricular tachycardia, Salt craving, Delayed p... |
OMIM:263800 |
Rabson-Mendenhall Syndrome |
|
Increased serum testosterone level, Polydipsia, Insulin-resistant diabetes mellitus, Diabetic ket... |
ORPHA:769 |
Hyperparathyroidism, Neonatal Severe |
|
Elevated circulating parathyroid hormone level, Polydipsia, Tachypnea, Primary hyperparathyroidis... |
OMIM:239200 |
Cockayne Syndrome |
|
Renal hypoplasia, Nephrotic syndrome, Abnormal renal physiology, Urinary incontinence, Unilateral... |
ORPHA:191 |
Adnp Syndrome |
|
Recurrent urinary tract infections, Urinary incontinence |
ORPHA:404448 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... |
OMIM:609136 |
Bardet-Biedl Syndrome 17 |
|
Hypogonadism, Polydipsia |
OMIM:615994 |
Glaucoma 3, Primary Congenital, A |
|
Ocular hypertension |
OMIM:231300 |
Distal Monosomy 10Q |
|
Horseshoe kidney, Functional abnormality of the bladder, Acute kidney injury, Vesicoureteral refl... |
ORPHA:96148 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Hip pain, Urinary bladder sphincter dysfunction |
ORPHA:52430 |
Autosomal Dominant Spastic Paraplegia Type 10 |
|
Spastic/hyperactive bladder, Urinary urgency |
ORPHA:100991 |
Toxic Epidermal Necrolysis |
|
Restrictive ventilatory defect, Dysphagia, Corneal erosion, Polydipsia, Cough, Respiratory distre... |
ORPHA:537 |
Cockayne Syndrome Type 1 |
|
Optic atrophy, Macrotia, Absent brainstem auditory responses, Hearing impairment, Tremor, Abnorma... |
ORPHA:90321 |
Enamel-Renal Syndrome |
|
Nephrocalcinosis, Hypophosphaturia, Hypocalciuria, Impaired renal concentrating ability, Nephropa... |
ORPHA:1031 |
Pituitary Dermoid And Epidermoid Cysts |
|
Increased circulating prolactin concentration, Enlarged pituitary gland, Polydipsia, Hypogonadism... |
ORPHA:91351 |
Late-Onset Retinal Degeneration |
|
Iris transillumination defect, Iris atrophy, Ocular hypertension |
ORPHA:67042 |
Meningioma |
|
Ear pain, Urinary incontinence, Trigeminal neuralgia, Back pain |
ORPHA:2495 |
Septo-Optic Dysplasia Spectrum |
|
Maternal diabetes, Diabetes insipidus, Polydipsia, Abnormality of the hypothalamus-pituitary axis... |
ORPHA:3157 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Renal salt wasting, Renal sodium wasting, Hypocalciuria, Renal potassium wasting, Enuresis, Polyuria |
OMIM:612780 |
Spastic Paraplegia 84, Autosomal Recessive |
|
Urinary urgency |
OMIM:619621 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Hypospadias, Enuresis, Recurrent urinary tract infections |
OMIM:619293 |
Teratoma, Pineal |
|
Polydipsia |
OMIM:273120 |
Nephronophthisis 1 |
|
Hypertension, Polydipsia |
OMIM:256100 |
Kufor-Rakeb Syndrome |
|
Urinary incontinence, Bowel incontinence, Fatigue |
ORPHA:306674 |
Iatrogenic Botulism |
|
Fatigue, Urinary retention |
ORPHA:254509 |
Oligomeganephronia |
|
Hypertension, Dehydration, Polydipsia |
ORPHA:2260 |
Nail-Patella Syndrome |
|
Antecubital pterygium, Abnormal iris pigmentation, Ocular hypertension, Lester's sign |
ORPHA:2614 |
Nephronophthisis 11 |
|
Anisocoria, Polydipsia |
OMIM:613550 |
Infantile Nephropathic Cystinosis |
|
Polydipsia, Abnormality of thyroid physiology, Corneal crystals, Abnormal cornea morphology, Dehy... |
ORPHA:411629 |
Igg4-Related Retroperitoneal Fibrosis |
|
Hydronephrosis, Nephrotic syndrome, Renovascular hypertension, Membranous nephropathy, Hematuria,... |
ORPHA:49041 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Urinary incontinence |
OMIM:619482 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Urinary incontinence |
ORPHA:447997 |
Inhalational Botulism |
|
Fatigue, Urinary retention |
ORPHA:254504 |
Juvenile Nephropathic Cystinosis |
|
Polydipsia, Hypothyroidism, Corneal crystals, Hypovolemia, Abnormal cornea morphology, Dehydration |
ORPHA:411634 |
Urachal Cyst |
|
Pyuria, Chills, Hematuria, Dysuria, Urachus fistula, Abdominal pain |
ORPHA:488 |
Botulism |
|
Fatigue, Abdominal pain, Urinary retention |
ORPHA:1267 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic/hyperactive bladder |
ORPHA:137898 |
Okamoto Syndrome |
|
Unilateral renal hypoplasia, Urinary incontinence, Ureteropelvic junction obstruction, Hydronephr... |
ORPHA:2729 |
Trisomy 10P |
|
Low voltage EEG, Abnormal auditory evoked potentials, Macrotia, Posteriorly rotated ears, EEG wit... |
ORPHA:171929 |
Sacral Defect With Anterior Meningocele |
|
Back pain, Urinary retention, Neurogenic bladder |
OMIM:600145 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Enuresis, Tubulointerstitial nephritis, Abnormality of the kidney |
ORPHA:459061 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Enuresis |
ORPHA:289483 |
Autosomal Recessive Spastic Paraplegia Type 9B |
|
Pollakisuria, Urinary retention, Impaired continence |
ORPHA:447760 |
Friedreich Ataxia |
|
Impaired visually enhanced vestibulo-ocular reflex, Urinary bladder sphincter dysfunction |
ORPHA:95 |
X-Linked Adrenoleukodystrophy |
|
Urinary bladder sphincter dysfunction, Neurogenic bladder |
ORPHA:43 |
Cystinosis, Nephropathic |
|
Dysphagia, Polydipsia, Recurrent corneal erosions, Primary hypothyroidism, Male hypogonadism, Dia... |
OMIM:219800 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Elevated circulating parathyroid hormone level, Shortened QT interval, Dysphagia, Thyroid carcino... |
ORPHA:99880 |
Parathyroid Carcinoma |
|
Elevated circulating parathyroid hormone level, Shortened QT interval, Dysphagia, Thyroid carcino... |
ORPHA:143 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Abnormal circulating osteocalcin level, Ocular hypertension |
ORPHA:93315 |
Machado-Joseph Disease |
|
Chronic pain, Urinary bladder sphincter dysfunction |
OMIM:109150 |
Spinocerebellar Ataxia 2 |
|
Urinary bladder sphincter dysfunction |
OMIM:183090 |
Cockayne Syndrome A |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of the pinna, Decreased nerve con... |
OMIM:216400 |
Helix Syndrome |
|
Xerostomia, Hyperparathyroidism, Polydipsia |
OMIM:617671 |
Spinocerebellar Ataxia Type 10 |
|
Urinary urgency |
ORPHA:98761 |
Mogs-Cdg |
|
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses |
ORPHA:79330 |
Senior-Boichis Syndrome |
|
Hypertension, Polydipsia, Portal hypertension, Ascites |
ORPHA:84081 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Urinary incontinence |
OMIM:234200 |
Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Optic neuropathy, Optic disc pallor, Abnormal auditory evoked potentials, Abnormal... |
ORPHA:909 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Central hypothyroidism, Obstructive sleep apnea, Polyphagia, Polydipsia, Premature adrenarche, Ab... |
ORPHA:293987 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Ocular hypertension, Macular edema, Vitreous hemorrhage, Cystoid macular edema, Cataract, Posteri... |
ORPHA:91500 |
Cockayne Syndrome B |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of the pinna, Decreased nerve con... |
OMIM:133540 |
African Trypanosomiasis |
|
Arthralgia, Fatigue, Urinary incontinence, Rigors, Renal insufficiency |
ORPHA:3385 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hypertension, Ascites, Polydipsia, Gastrointestinal hemorrhage, Oligohydramnios, Recurrent pneumo... |
ORPHA:731 |
Nephronophthisis 4 |
|
Polydipsia |
OMIM:606966 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Urinary urgency |
OMIM:270550 |
Proximal Renal Tubular Acidosis |
|
Polydipsia, Cataract, Hypovolemia, Band keratopathy, Dehydration |
ORPHA:47159 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Myalgia, Pollakisuria, Bowel incontinence, Urinary bladder sphincter dysfunction |
ORPHA:93256 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperactive renin-angiotensin system, Polydipsia, Low-to-normal blood pressure, Polyhydramnios, H... |
OMIM:241200 |
Visceral Myopathy 1 |
|
Hydronephrosis, Urinary retention, Megacystis, Vesicoureteral reflux, Abdominal pain |
OMIM:155310 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Hypospadias, Hydronephrosis, Periventricular heterotopia, Chordee, Pelvic kidney, Renal duplicati... |
ORPHA:261537 |
Dopamine Beta-Hydroxylase Deficiency |
|
Fatigue, Elevated urinary dopamine, Nocturia, Chest pain |
ORPHA:230 |
Spinocerebellar Ataxia 1 |
|
Urinary bladder sphincter dysfunction |
OMIM:164400 |
Mowat-Wilson Syndrome |
|
Hypospadias, Hydronephrosis, Periventricular heterotopia, Chordee, Pelvic kidney, Renal duplicati... |
ORPHA:2152 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Urinary bladder sphincter dysfunction |
ORPHA:64753 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Hypospadias, Hydronephrosis, Periventricular heterotopia, Chordee, Pelvic kidney, Renal duplicati... |
ORPHA:261552 |
Parkinson Disease, Late-Onset |
|
Urinary urgency |
OMIM:168600 |
Distal Renal Tubular Acidosis |
|
Respiratory insufficiency due to muscle weakness, Dehydration, Polydipsia |
ORPHA:18 |
Parkinson Disease 1, Autosomal Dominant |
|
Urinary urgency |
OMIM:168601 |
Hypomagnesemia 3, Renal |
|
Astigmatism, Polydipsia |
OMIM:248250 |
Superficial Siderosis |
|
Functional abnormality of the bladder, Back pain, Dysgyria |
ORPHA:247245 |
Citrullinemia Type Ii |
|
Enuresis, Night sweats |
ORPHA:247585 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Abnormality of endocrine pancreas physiology, Polydipsia, Diabetes mellitus, Hypothyroidism |
ORPHA:93111 |
7Q11.23 Microduplication Syndrome |
|
Hypospadias, Hydronephrosis, Simplified gyral pattern, Unilateral renal agenesis, Enuresis |
ORPHA:96121 |
Mend Syndrome |
|
Low-set ears, Abnormal auditory evoked potentials |
ORPHA:401973 |
Alström Syndrome |
|
Urinary urgency, Urinary retention, Dysuria, Detrusor sphincter dyssynergia, Stage 5 chronic kidn... |
ORPHA:64 |
Hereditary Late-Onset Parkinson Disease |
|
Spastic/hyperactive bladder |
ORPHA:411602 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Functional abnormality of the bladder, Renal artery stenosis, Renovascular hypertension |
ORPHA:391487 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Myalgia, Fatigue, Nocturia |
ORPHA:254892 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Chronic pain, Urinary bladder sphincter dysfunction, IgA deposition in the glomerulus, Abnormalit... |
ORPHA:79408 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Enuresis |
ORPHA:369950 |
Posterior Meningocele |
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Enuresis, Bowel incontinence |
ORPHA:268810 |
Familial Avascular Necrosis Of Femoral Head |
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Impairment of activities of daily living, Groin pain, Hip pain |
ORPHA:86820 |
Williams-Beuren Syndrome |
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Renal hypoplasia, Urethral stenosis, Nephrocalcinosis, Pelvic kidney, Recurrent urinary tract inf... |
OMIM:194050 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Urinary urgency, Pelvic kidney, Arthralgia, Micropenis, Unilateral renal agenesis |
OMIM:619503 |
Metatropic Dysplasia |
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Cataract |
ORPHA:2635 |
Metatropic Dysplasia |
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Respiratory failure, Respiratory insufficiency |
OMIM:156530 |
Scapuloperoneal Spinal Muscular Atrophy |
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Stridor, Respiratory insufficiency |
OMIM:181405 |
Neuronopathy, Distal Hereditary Motor, Type Viii |
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OMIM:600175 |
Avascular Necrosis Of Femoral Head, Primary, 2 |
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OMIM:617383 |
Brachyolmia Type 3 |
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OMIM:113500 |
Spondyloepiphyseal Dysplasia, Maroteaux Type |
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OMIM:184095 |
Familial Digital Arthropathy-Brachydactyly |
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ORPHA:85169 |
Parastremmatic Dwarfism |
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OMIM:168400 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
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ORPHA:93314 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
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ORPHA:1216 |
Autosomal Dominant Brachyolmia |
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ORPHA:93304 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
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OMIM:184252 |
Digital Arthropathy-Brachydactyly, Familial |
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OMIM:606835 |