| Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Hydronephrosis, Duplicated collecting system |
OMIM:163850 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis, Megacystis, Abdominal distention, Nephrolithiasis, Recurrent urinary tract infections,... |
OMIM:619365 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Nausea and vomiting, Hydronephrosis, Urinary bladder inflammation, Congenital pyloric atresia, Ap... |
ORPHA:79403 |
| Iatrogenic Botulism |
|
Mydriasis, Dysphagia, Urinary retention, Ptosis, Xerostomia, Orthostatic hypotension, Fatigue, Co... |
ORPHA:254509 |
| Visceral Myopathy 2 |
|
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Megacystis, Volvulus, Es... |
OMIM:619350 |
| Inhalational Botulism |
|
Mydriasis, Nausea and vomiting, Urinary retention, Ptosis, Xerostomia, Fatigue, Diarrhea, Constip... |
ORPHA:254504 |
| Foodborne Botulism |
|
Mydriasis, Nausea and vomiting, Dysphagia, Urinary retention, Ptosis, Xerostomia, Diarrhea, Abdom... |
ORPHA:228371 |
| Adrenomyodystrophy |
|
Abnormal intestine morphology, Abnormality of the urinary system, Failure to thrive, Megacystis, ... |
ORPHA:977 |
| Visceral Myopathy 1 |
|
Hydronephrosis, Dysphagia, Aganglionic megacolon, Megaduodenum, Urinary retention, Intestinal pse... |
OMIM:155310 |
| Interstitial Cystitis |
|
Urinary bladder inflammation, Urinary urgency, Pollakisuria, Pain, Functional abnormality of the ... |
ORPHA:37202 |
| Wound Botulism |
|
Mydriasis, Dysphagia, Urinary retention, Ptosis, Constipation |
ORPHA:178475 |
| Malakoplakia |
|
Inflammatory abnormality of the skin, Urinary bladder inflammation, Urinary urgency, Urinary hesi... |
ORPHA:556 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Sepsis, Hydronephrosis, Megacystis, Fetal megacystis, Abdominal distention, Neonatal death, Hydro... |
OMIM:619362 |
| Igg4-Related Kidney Disease |
|
Tubulointerstitial nephritis, Dacryocystitis, Fatigue, Chronic kidney disease, Abdominal pain, In... |
ORPHA:449395 |
| Botulism |
|
Mydriasis, Nausea and vomiting, Dysphagia, Urinary retention, Xerostomia, Fatigue, Diarrhea, Abdo... |
ORPHA:1267 |
| X-Linked Spastic Paraplegia Type 16 |
|
Functional abnormality of the gastrointestinal tract, Functional abnormality of the bladder |
ORPHA:100997 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Nausea and vomiting, Sepsis, Megacystis, Abdominal distention, Intestinal malrotation, Multicysti... |
ORPHA:2241 |
| Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A |
|
Abnormality of the autonomic nervous system, Urinary incontinence, Urinary urgency |
OMIM:156310 |
| Intellectual Developmental Disorder, X-Linked 29 |
|
Urinary incontinence, Long palpebral fissure |
OMIM:300419 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Renal cortical hyperechogenicity, Mydriasis, Peritonitis, Anuria, Megacystis, Ileal atresia, Pyel... |
OMIM:619351 |
| Autosomal Dominant Spastic Paraplegia Type 13 |
|
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction, Rod-cone dystrophy |
ORPHA:100994 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... |
OMIM:308990 |
| Hereditary Coproporphyria |
|
Limb pain, Hepatocellular carcinoma, Episodic vomiting, Nausea, Porphyrinuria, Back pain, Dark ur... |
ORPHA:79273 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Feeding difficulties in infancy, Vomiting, Failure to thrive, Megacystis, Polyuria, Constipation |
OMIM:125800 |
| Renal Hypodysplasia/Aplasia 3 |
|
Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, ... |
OMIM:617805 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Feeding difficulties in infancy, Vomiting, Failure to thrive, Megacystis, Polyuria, Constipation |
OMIM:304800 |
| Spastic Paraplegia 13, Autosomal Dominant |
|
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction |
OMIM:605280 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Tremor, Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction |
OMIM:600363 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... |
OMIM:310468 |
| Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Miosis, T... |
OMIM:603472 |
| Spastic Paraplegia 12, Autosomal Dominant |
|
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction |
OMIM:604805 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Ethylmalonic aciduria, Renal cortical cysts, Developmental cataract, Generalized aminoaciduria, V... |
OMIM:231680 |
| 3-Methylglutaconic Aciduria, Type Ix |
|
Failure to thrive, 3-Methylglutaconic aciduria, Urinary incontinence, Optic atrophy |
OMIM:617698 |
| Spastic Paraplegia 19, Autosomal Dominant |
|
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction |
OMIM:607152 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Feeding difficulties in infancy, Cleft palate, Failure to thrive, Renal cyst, Epicanthus, Brushfi... |
OMIM:614866 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydronephrosis, Abnormality of the urinary system, Abnormality of the upper urinary tract, Hydrou... |
ORPHA:2838 |
| Atresia Of Urethra |
|
Patent urachus, Hydronephrosis, Renal dysplasia, Megacystis, Abdominal distention, Bladder fistul... |
ORPHA:105 |
| Hypercalcemia, Infantile, 2 |
|
Nephrocalcinosis, Failure to thrive, Renal phosphate wasting, Medullary nephrocalcinosis, Hyperca... |
OMIM:616963 |
| Spastic Paraplegia 72, Autosomal Recessive |
|
Urinary bladder sphincter dysfunction |
OMIM:615625 |
| Spastic Paraplegia 54, Autosomal Recessive |
|
Dysphagia, High palate, Optic nerve hypoplasia, Telecanthus, Urinary incontinence, Bowel incontin... |
OMIM:615033 |
| Baralle-Macken Syndrome |
|
High, narrow palate, Upslanted palpebral fissure, Urinary incontinence, Cataract, Obesity |
OMIM:619255 |
| 3-Methylglutaconic Aciduria Type 9 |
|
Optic atrophy, Failure to thrive, Slender build, Urinary incontinence, 3-Methylglutaconic aciduria |
ORPHA:505216 |
| Autosomal Recessive Spastic Paraplegia Type 27 |
|
Abnormality of somatosensory evoked potentials, Spastic/hyperactive bladder |
ORPHA:101007 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Renal cortical hyperechogenicity, Renal hypoplasia, Medullary nephrocalcinosis, Reduced renal cor... |
OMIM:611555 |
| Acute Intermittent Porphyria |
|
Nausea and vomiting, Constipation, Urinary retention, Hepatocellular carcinoma, Pseudobulbar para... |
ORPHA:79276 |
| Spastic Paraplegia 8, Autosomal Dominant |
|
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction |
OMIM:603563 |
| Attrv30M Amyloidosis |
|
Vitreous floaters, Abnormal renal physiology, Weight loss, Nephropathy, Diarrhea, Constipation, A... |
ORPHA:85447 |
| Spastic Paraplegia 83, Autosomal Recessive |
|
Myalgia, Dysphagia, Urinary urgency |
OMIM:619027 |
| Spastic Paraplegia 37, Autosomal Dominant |
|
Urinary incontinence, Urinary urgency |
OMIM:611945 |
| Isolated Polycystic Liver Disease |
|
Feeding difficulties in infancy, Abdominal distention, Back pain, Gastrointestinal hemorrhage, Mu... |
ORPHA:2924 |
| Arachnoid Cyst |
|
Mydriasis, Urinary bladder sphincter dysfunction, Ptosis, Abnormal large intestine physiology, Na... |
ORPHA:2356 |
| Urofacial Syndrome 2 |
|
Hydronephrosis, Urinary urgency, Recurrent urinary tract infections, Vesicoureteral reflux, Enure... |
OMIM:615112 |
| Spastic Paraplegia 41, Autosomal Dominant |
|
Urinary urgency |
OMIM:613364 |
| Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Retinal degeneration, Renal dysplasia, Recurrent otitis media, Renal cyst, Rod-co... |
OMIM:615993 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Ectopic kidney, Hydronephrosis, Renal cyst, Vesicoureteral reflux |
OMIM:618270 |
| Autosomal Recessive Frontotemporal Pachygyria |
|
Urinary incontinence, Telecanthus |
ORPHA:329329 |
| Porphyria |
|
Nausea and vomiting, Anorexia, Fatigue, Abnormal urinary color, Diarrhea, Abdominal pain, Constip... |
ORPHA:738 |
| Spastic Paraplegia 36, Autosomal Dominant |
|
Urinary incontinence, Urinary urgency |
OMIM:613096 |
| Dubin-Johnson Syndrome |
|
Fatigue, Abnormal urinary color, Abdominal pain, Abnormal gastric mucosa morphology |
ORPHA:234 |
| Spastic Paraplegia 10, Autosomal Dominant |
|
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction |
OMIM:604187 |
| Congenital Primary Megaureter |
|
Hydronephrosis, Abnormal penis morphology, Congenital megaureter, Nephrolithiasis, Recurrent urin... |
ORPHA:617 |
| Immunodeficiency 61 |
|
Recurrent bacterial infections, Recurrent otitis media, Malabsorption, Arthritis, Obesity, Recurr... |
OMIM:300310 |
| Spastic Paraplegia 27, Autosomal Recessive |
|
Spastic/hyperactive bladder |
OMIM:609041 |
| Blue Diaper Syndrome |
|
Diarrhea, Blue urine, Increased body weight, Nephrocalcinosis |
ORPHA:94086 |
| Complement Factor H Deficiency |
|
Recurrent bacterial infections, Hematuria, Chronic kidney disease, Thickened glomerular basement ... |
OMIM:609814 |
| Hypercalcemia, Infantile, 1 |
|
Vomiting, Nephrocalcinosis, Failure to thrive, Weight loss, Nephrolithiasis, Hypercalciuria, Poly... |
OMIM:143880 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Dysphagia, Urinary urgency, Retinal degeneration, Urinary bladder sphincter dysfunction, Macular ... |
OMIM:604360 |
| Chronic Graft Versus Host Disease |
|
Fasciitis, Recurrent infections, Diarrhea, Abdominal pain, Phimosis, Esophageal ulceration, Pain,... |
ORPHA:99921 |
| Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency |
|
Urinary bladder sphincter dysfunction |
ORPHA:284282 |
| Familial Visceral Myopathy |
|
Cleft palate, Aganglionic megacolon, Megacystis, Abdominal distention, Vesicoureteral reflux, Hyd... |
ORPHA:2604 |
| Spastic Paraplegia 3, Autosomal Dominant |
|
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction |
OMIM:182600 |
| Enuresis, Nocturnal, 1 |
|
Enuresis nocturna |
OMIM:600631 |
| Enuresis, Nocturnal, 2 |
|
Enuresis nocturna |
OMIM:600808 |
| Pediatric Systemic Lupus Erythematosus |
|
Nephrotic syndrome, Vomiting, Abnormality of the urinary system, Myositis, Hematuria, Nephritis, ... |
ORPHA:93552 |
| Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Failure to thrive, Disseminated cryptosporidium infection, Recurrent skin infec... |
OMIM:614372 |
| Nephronophthisis 9 |
|
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease |
OMIM:613824 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Bilateral cleft lip and palate, Optic atrophy, Chorioretinal coloboma, Microphthalmia, Posterior ... |
ORPHA:1473 |
| Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction |
OMIM:607565 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Purple urine, Episodic vomiting, Nausea, Abdominal distention, Increased fecal coproporphyrin 3, ... |
ORPHA:100924 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Obesity, Recurrent respiratory infections, Rod-cone dystrophy, Nephrocalcinosis |
OMIM:615633 |
| Paroxysmal Cold Hemoglobinuria |
|
Nausea and vomiting, Hemoglobinuria, Back pain, Arthralgia, Abnormal urinary color, Recurrent res... |
ORPHA:90035 |
| Nephrotic Syndrome, Type 1 |
|
Pyloric stenosis, Renal tubular atrophy, Small for gestational age, Congenital nephrotic syndrome... |
OMIM:256300 |
| Spastic Paraplegia 5A, Autosomal Recessive |
|
Optic atrophy, Urinary incontinence, Cataract |
OMIM:270800 |
| Autosomal Recessive Spastic Paraplegia Type 48 |
|
Urinary incontinence, Retinopathy, Urinary bladder sphincter dysfunction |
ORPHA:306511 |
| Cold Agglutinin Disease |
|
Nausea and vomiting, Back pain, Arthralgia, Fatigue, Abnormal urinary color, Diarrhea |
ORPHA:56425 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Chronic kidney disease, Abdominal pain, Abnormal nephron morphol... |
ORPHA:93108 |
| Spastic Paraplegia 4, Autosomal Dominant |
|
Low back pain, Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction |
OMIM:182601 |
| Cat-Eye Syndrome |
|
Hydronephrosis, Chorioretinal coloboma, Microphthalmia, Abnormal localization of kidney, Downslan... |
ORPHA:195 |
| Autosomal Spastic Paraplegia Type 72 |
|
Postural tremor, Pain, Urinary bladder sphincter dysfunction |
ORPHA:401849 |
| Hypomagnesemia 3, Renal |
|
Feeding difficulties in infancy, Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Hem... |
OMIM:248250 |
| Spinocerebellar Ataxia 48 |
|
Tremor, Urinary incontinence, Dysphagia, Cachexia |
OMIM:618093 |
| Autosomal Dominant Spastic Paraplegia Type 4 |
|
Urinary urgency, Urinary bladder sphincter dysfunction |
ORPHA:100985 |
| Autosomal Dominant Spastic Paraplegia Type 73 |
|
Urinary incontinence, Urinary urgency |
ORPHA:444099 |
| Spastic Paraplegia 31, Autosomal Dominant |
|
Dysphagia, Urinary urgency |
OMIM:610250 |
| Riboflavin Transporter Deficiency |
|
Dysphagia, Optic disc pallor, Abnormal cranial nerve morphology, Cachexia, Ptosis, Facial palsy, ... |
ORPHA:97229 |
| Autosomal Dominant Spastic Paraplegia Type 6 |
|
Postural tremor, Urinary incontinence |
ORPHA:100988 |
| Infant Botulism |
|
Keratoconjunctivitis sicca, Mydriasis, Dysphagia, Anorexia, Ptosis, Xerostomia, Chronic otitis me... |
ORPHA:178478 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Vomiting, Nephrocalcinosis, Failure to thrive, Hypercalciuria, Distal renal tubular acidosis |
OMIM:602722 |
| Bardet-Biedl Syndrome 10 |
|
Retinal dystrophy, Renal cyst, Rod-cone dystrophy, Obesity, Renal insufficiency, Abnormality of t... |
OMIM:615987 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Rena... |
OMIM:143400 |
| Autosomal Dominant Spastic Paraplegia Type 36 |
|
Urinary incontinence, Urinary urgency, Arthritis |
ORPHA:320365 |
| Spastic Paraplegia 44, Autosomal Recessive |
|
Urinary incontinence, Constipation, Intention tremor |
OMIM:613206 |
| X-Linked Non-Syndromic Intellectual Disability |
|
Pyloric stenosis, Meckel diverticulum, Small for gestational age, Facial palsy, Downslanted palpe... |
ORPHA:777 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydronephrosis, Megacystis, Intestinal malrotation, Hepatic failure, Hydroureter, Microcolon |
OMIM:619431 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Vomiting, Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Hypercalciuria |
OMIM:239199 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Pyloric stenosis, Hydronephrosis, Feeding difficulties in infancy, Vomiting, Intestinal pseudo-ob... |
OMIM:300048 |
| Serotonin Syndrome |
|
Mydriasis, Nausea, Abnormality of the autonomic nervous system, Tremor, Acute kidney injury, Hepa... |
ORPHA:43116 |
| Myopathy Due To Malate-Aspartate Shuttle Defect |
|
Exercise-induced myalgia, Red urine |
OMIM:254960 |
| Dent Disease 2 |
|
Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Chronic kidney disease,... |
OMIM:300555 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dysphagia, Exercise-induced myalgia, Exercise-induced myoglobinuria, Dark urine, Acute kidney inj... |
ORPHA:368 |
| Spastic Paraplegia 48, Autosomal Recessive |
|
Urinary incontinence, Retinopathy |
OMIM:613647 |
| Hypophosphatasia, Infantile |
|
Elevated urine pyrophosphate, Anorexia, Vomiting, Nephrocalcinosis, Failure to thrive, Stillbirth... |
OMIM:241500 |
| Spastic Paraplegia 16, X-Linked |
|
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction |
OMIM:300266 |
| Siddiqi Syndrome |
|
Urinary incontinence |
OMIM:618635 |
| Ochoa Syndrome |
|
Hydronephrosis, Recurrent urinary tract infections, Urinary incontinence, Vesicoureteral reflux, ... |
ORPHA:2704 |
| Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Decreased nerve conduction velocity, Urinary incontinence, Dysphagia |
OMIM:249900 |
| Variant Abeta2M Amyloidosis |
|
Abnormal salivary gland morphology, Gastrointestinal infarctions, Intestinal perforation, Knee pa... |
ORPHA:314652 |
| Spastic Paraplegia 80, Autosomal Dominant |
|
Urinary urgency |
OMIM:618418 |
| Hartnup Disease |
|
Neutral hyperaminoaciduria, Infectious encephalitis, Malabsorption, Glossitis, Skin rash, Abnorma... |
ORPHA:2116 |
| Congenital Megacalycosis |
|
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... |
ORPHA:93109 |
| Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Nephrotic syndrome, Gastrointestinal dysmot... |
ORPHA:330001 |
| Intestinal Botulism |
|
Mydriasis, Nausea and vomiting, Dysphagia, Ptosis, Xerostomia, Diarrhea |
ORPHA:178481 |
| Uveal Melanoma |
|
Abnormal fundus morphology, Mydriasis, Retinal detachment, Vitreous hemorrhage, Inflammatory abno... |
ORPHA:39044 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... |
ORPHA:656 |
| Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Head tremor, Urinary incontinence, Dysphagia |
ORPHA:352641 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Optic atrophy, Attenuation of retinal blood vessels, Decreased sensory nerve conduction velocity,... |
OMIM:609033 |
| Autosomal Recessive Spastic Paraplegia Type 76 |
|
Functional abnormality of the bladder |
ORPHA:488594 |
| Harrod Syndrome |
|
Hypospadias, Pyloric stenosis, High, narrow palate, High palate, Aganglionic megacolon, Failure t... |
OMIM:601095 |
| Peroxisome Biogenesis Disorder 10B |
|
Cataract, Neurogenic bladder, Nephrocalcinosis |
OMIM:617370 |
| Primary Hyperoxaluria Type 3 |
|
Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H... |
ORPHA:93600 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Cachexia, Gastrointestinal dysmotility, Abdominal distention, Slender build, Weight loss, Malabso... |
OMIM:613662 |
| Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Failure to thrive, Highly arched eyebrow, Feeding difficulties, Nephrocalcinosis |
ORPHA:500533 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Renal insufficiency, Nephrotic syndrome, Membranoproliferative gl... |
OMIM:613779 |
| Syringomyelia, Noncommunicating Isolated |
|
Horner syndrome, Urinary incontinence, Neck pain |
OMIM:186700 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, High, narrow palate, Hydronephrosis, High palate, Optic disc pallor, Macroglossia, U... |
OMIM:214100 |
| Glucose/Galactose Malabsorption |
|
Failure to thrive, Abdominal distention, Malabsorption, Glycosuria, Chronic diarrhea, Hyperactive... |
OMIM:606824 |
| Mpdu1-Cdg |
|
Renal cortical cysts, Optic atrophy, Eczema, Nasogastric tube feeding, Feeding difficulties |
ORPHA:79323 |
| Harderoporphyria |
|
Increased urinary porphobilinogen, Increased urine harderoporphyrin level, Vomiting, Red urine |
OMIM:618892 |
| Spinocerebellar Ataxia 42 |
|
Tremor, Urinary incontinence, Urinary urgency, Dysphagia |
OMIM:616795 |
| Papillorenal Syndrome |
|
Horseshoe kidney, Renal hypoplasia, Renal malrotation, Microphthalmia, Morning glory anomaly, Ret... |
OMIM:120330 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Urinary incontinence, Decreased nerve conduction velocity |
OMIM:615284 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation |
|
Cleft palate, Microphthalmia, Ptosis, Hematuria, Cataract |
OMIM:120433 |
| Pure Autonomic Failure |
|
Constitutional symptom, Orthostatic hypotension, Dysuria, Urinary incontinence, Constipation, Abn... |
ORPHA:441 |
| Nephronophthisis 2 |
|
Chronic tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease, Absence o... |
OMIM:602088 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... |
ORPHA:567548 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Abdominal distention, Renal cyst, Back pain |
OMIM:174050 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Urinary urgency, Urinary hesitancy, Vomiting, Urinary incontinence, Hiatus hernia, Nocturia |
OMIM:609727 |
| Immunodeficiency, Common Variable, 6 |
|
Macroscopic hematuria, Recurrent bacterial infections, Hydronephrosis, Mesangial Immune complex d... |
OMIM:613496 |
| Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Aganglionic megacolon, Vomiting, Intestinal pseudo-obstruction, Functional intestinal obstruction... |
OMIM:243180 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Optic atrophy, Urinary incontinence, Urinary urgency |
OMIM:612319 |
| Becker Muscular Dystrophy |
|
Myalgia, Fatigue, Myoglobinuria, Abnormal urinary color |
ORPHA:98895 |
| Apnea, Central Sleep |
|
Urinary incontinence |
OMIM:207720 |
| Blue Diaper Syndrome |
|
Nephrocalcinosis |
OMIM:211000 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Hypospadias, Renal cortical cysts, Meningocele, Subretinal deposits, Recurrent aspiration pneumon... |
ORPHA:397715 |
| Posterior Urethral Valve |
|
Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat... |
ORPHA:93110 |
| Volvulus Of Midgut |
|
Neonatal intestinal obstruction, Abdominal distention, Volvulus, Telecanthus, Long palpebral fiss... |
OMIM:193250 |
| Orofaciodigital Syndrome Xviii |
|
Upslanted palpebral fissure, Urinary incontinence |
OMIM:617927 |
| Granulomatous Slack Skin |
|
Acute kidney injury, Nephrocalcinosis |
ORPHA:33111 |
| Multiple Sclerosis, Susceptibility To |
|
Urinary incontinence, Urinary hesitancy |
OMIM:126200 |
| Glycogen Storage Disease V |
|
Exercise-induced myalgia, Myoglobinuria, Dark urine |
OMIM:232600 |
| Primary Hyperoxaluria Type 1 |
|
Hyperoxaluria, Nephrocalcinosis, Failure to thrive, Hematuria, Decreased glomerular filtration ra... |
ORPHA:93598 |
| Macrosomia With Microphthalmia, Lethal |
|
Median cleft palate, Microphthalmia, Respiratory infections in early life, Large for gestational age |
OMIM:248110 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Blue irides, Hydronephrosis, Cleft palate, Absence of Stensen duct, Renal agenesis, Urethral sten... |
OMIM:604292 |
| Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Nephrocalcinosis, Renal calcium wasting, Nephrolithiasis, Rod-cone dystrophy, Recurrent urinary t... |
OMIM:248190 |
| Bardet-Biedl Syndrome 6 |
|
Hypospadias, Retinal dystrophy, Renal cyst, Rod-cone dystrophy, Obesity |
OMIM:605231 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Anorexia, Nephrocalcinosis, Failure to thrive, Isothenuria, Distal renal tubular acidosis |
OMIM:611590 |
| Immunodeficiency 51 |
|
Eczema, Folliculitis, Pustule, Chronic furunculosis, Recurrent bronchitis, Pneumonia, Chronic ora... |
OMIM:613953 |
| Cirrhosis, Familial |
|
Abdominal distention, Esophageal varix, Increased level of L-fucose in urine |
OMIM:215600 |
| Paget Disease Of Bone 6 |
|
Osteoarthritis, Bone pain, Nephrocalcinosis |
OMIM:616833 |
| Trehalase Deficiency |
|
Vomiting, Abdominal distention, Malabsorption, Diarrhea, Abdominal pain |
ORPHA:103909 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Orthostatic hypotension due to autonomic dysfunction, Amyloid deposition in the vitreous humor, T... |
OMIM:105210 |
| Intellectual Developmental Disorder, X-Linked 90 |
|
Enuresis, Upslanted palpebral fissure, High palate, Bifid uvula |
OMIM:300850 |
| Autoimmune Hemolytic Anemia |
|
Fatigue, Abnormal urinary color, Abdominal pain |
ORPHA:98375 |
| Immunoneurologic Disorder, X-Linked |
|
Functional abnormality of the bladder, Small for gestational age, Neonatal death |
OMIM:300076 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Myoglobinuria, Tubulointerstitial nephritis, Exercise-induced myalgia, Red-brown urine, Stage 5 c... |
ORPHA:228302 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent bronchitis, Failure to thrive, Recurrent otitis media, ... |
OMIM:613501 |
| Dent Disease |
|
Tubulointerstitial fibrosis, Non-acidotic proximal tubulopathy, Hyperuricosuria, Chronic kidney d... |
ORPHA:1652 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Urinary incontinence |
OMIM:616688 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Failure to thrive, Renal cyst, Dark urine, Steatorrhea, Hepatic failure, Fa... |
ORPHA:79303 |
| Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Generalized aminoaciduria, Hepatocellular carcinoma, Nephrocalcinosis, Failure... |
ORPHA:2088 |
| Microvillus Inclusion Disease |
|
Villous atrophy, Nephrocalcinosis, Abnormal renal physiology, Abdominal distention, Abnormality o... |
ORPHA:2290 |
| Hyperbiliverdinemia |
|
Green urine, Decreased liver function |
OMIM:614156 |
| Toxin-Mediated Infectious Botulism |
|
Mydriasis, Dysphagia, Constipation, Ptosis |
ORPHA:230800 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Renal cortical cysts, Feeding difficulties |
OMIM:617668 |
| Alternating Hemiplegia Of Childhood |
|
Mydriasis, Dysphagia, Anorexia, Thin eyebrow, Vomiting, Gastrointestinal dysmotility, Failure to ... |
ORPHA:2131 |
| Mosaic Trisomy 1 |
|
Renal cortical cysts, Cleft palate, Microphthalmia, Congenital bilateral ptosis, Renal cyst, Down... |
ORPHA:1692 |
| Tetanus |
|
Dysphagia, Opisthotonus, Elevated urinary epinephrine, Tremor, Autonomic bladder dysfunction, Ele... |
ORPHA:3299 |
| Spastic Paralysis, Infantile-Onset Ascending |
|
Urinary incontinence, Dysphagia |
OMIM:607225 |
| Wolfram Syndrome, Mitochondrial Form |
|
Optic atrophy, Hydronephrosis, Hydroureter, Abnormal autonomic nervous system physiology |
OMIM:598500 |
| Cocaine Intoxication |
|
Mydriasis, Bloody diarrhea, Tubulointerstitial nephritis, Gastrointestinal infarctions, Vomiting,... |
ORPHA:90068 |
| Spastic Paraplegia 76, Autosomal Recessive |
|
Urinary incontinence |
OMIM:616907 |
| 2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Dysphagia, Cachexia, Vomiting, Ptosis, Gastrointestina... |
ORPHA:298 |
| Porphyria, Acute Intermittent |
|
Constipation, Urinary retention, Hepatocellular carcinoma, Vomiting, Nausea, Dysuria, Urinary inc... |
OMIM:176000 |
| Vesicoureteral Reflux 3 |
|
Hydronephrosis, Hydroureter, Vesicoureteral reflux |
OMIM:613674 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Feeding difficulties, Slender build, Nephrocalcinosis |
OMIM:611087 |
| Meckel Syndrome, Type 8 |
|
Cleft palate, Microphthalmia, Anophthalmia, Abdominal distention, Hyperechogenic kidneys |
OMIM:613885 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Nephrotic syndrome, Nephrocalcinosis, Ptosis, Renal dysplasia, Hematuria, Unilateral renal dyspla... |
OMIM:146255 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Arthralgia, Fatigue, Abnormal urinary color, Skin rash |
ORPHA:90036 |
| Familial Mediterranean Fever |
|
Nephropathy, Diarrhea, Abdominal pain, Nausea and vomiting, Pericarditis, Nephrotic syndrome, Nep... |
ORPHA:342 |
| Mental Retardation With Language Impairment And With Or Without Autistic Features |
|
Feeding difficulties in infancy, Failure to thrive in infancy, Downslanted palpebral fissures, En... |
OMIM:613670 |
| Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Urinary incontinence, Low back pain |
OMIM:600142 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Head tremor, Urinary incontinence, Cataract |
OMIM:614409 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Renal cortical cysts, Feeding difficulties in infancy, Ptosis, Telecanthus, Astigmatism, Vesicour... |
OMIM:618548 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Chronic active hepatitis, Nephrocalcinosis, Chronic oral candidiasis, Malabsorption, Chronic muco... |
OMIM:240300 |
| Spastic Paraplegia 7, Autosomal Recessive |
|
Optic atrophy, Dysphagia, Urinary urgency, Urinary bladder sphincter dysfunction, Urinary inconti... |
OMIM:607259 |
| Brain-Lung-Thyroid Syndrome |
|
Hypospadias, Failure to thrive, Megacystis, Intention tremor, Recurrent pneumonia, Vesicoureteral... |
ORPHA:209905 |
| Genetic Recurrent Myoglobinuria |
|
Myositis, Exercise-induced myalgia, Exercise-induced myoglobinuria, Dark urine, Acute kidney inju... |
ORPHA:99845 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatocellular carcinoma, Failure to thrive, Abdominal distention, Postexertional malaise, Protei... |
ORPHA:369 |
| Exfoliation Syndrome |
|
Mydriasis, Abnormality of the lens, Lens subluxation, Phakodonesis, Iris hypoperfusion, Retinal v... |
OMIM:177650 |
| Lymphangioleiomyomatosis |
|
Optic atrophy, Hematuria, Gastrointestinal hemorrhage, Renal angiomyolipoma, Fatigue, Multiple re... |
ORPHA:538 |
| Perineural Cyst |
|
Urinary bladder sphincter dysfunction, Abnormal large intestine physiology, Sciatica, Lower limb ... |
ORPHA:65250 |
| Dopa-Responsive Dystonia |
|
Vomiting, Pain, Fatigable weakness, Tremor, Urinary incontinence, Fatigue, Constipation |
ORPHA:255 |
| Multiple System Atrophy 1, Susceptibility To |
|
Urinary urgency, Ptosis, Orthostatic hypotension, Tremor, Iris atrophy, Urinary incontinence, Abn... |
OMIM:146500 |
| Fatal Familial Insomnia |
|
Dysphagia, Urinary retention, Weight loss, Constipation, Abnormal autonomic nervous system physio... |
OMIM:600072 |
| Adiposis Dolorosa |
|
Chronic pain, Abdominal distention, Arthralgia, Fatigue, Obesity, Constipation |
OMIM:103200 |
| Hemolytic Anemia, Congenital, X-Linked |
|
Dark urine |
OMIM:301015 |
| Spinocerebellar Ataxia 10 |
|
Decreased nerve conduction velocity, Urinary incontinence, Urinary urgency, Dysphagia |
OMIM:603516 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent bacterial infections, Sinusitis, Pneumonia, Bronchiectasis, Failure to thrive, Recurren... |
OMIM:601495 |
| Unilateral Focal Polymicrogyria |
|
Urinary incontinence, Abnormality of somatosensory evoked potentials |
ORPHA:268947 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Failure to thrive, Optic atrophy, Uraciluria, Microphthalmia |
OMIM:274270 |
| Neuromyelitis Optica Spectrum Disorder |
|
Nausea, Optic neuritis, Functional abnormality of the bladder, Ocular pain, Myelitis, Recurrent s... |
ORPHA:71211 |
| Dent Disease 1 |
|
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Nephrolithiasis, Glycos... |
OMIM:300009 |
| Spastic Paraplegia 15, Autosomal Recessive |
|
Urinary urgency, Retinal degeneration, Urinary bladder sphincter dysfunction, Macular degeneratio... |
OMIM:270700 |
| X-Linked Immunoneurologic Disorder |
|
Functional abnormality of the bladder, Recurrent respiratory infections, Cataract |
ORPHA:2571 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Chronic sinusitis, ... |
OMIM:612692 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Giant cell hepatitis, Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Nephropathy |
OMIM:613404 |
| Cherubism |
|
Optic neuropathy, Narrow palate, Marcus Gunn pupil, Lower eyelid retraction, Macular scar |
OMIM:118400 |
| Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Anterior polar cataract, Nephrotic syndrome, Nephrocalc... |
OMIM:104200 |
| Glucose-Galactose Malabsorption |
|
Vomiting, Failure to thrive, Hematuria, Abdominal distention, Weight loss, Nephrolithiasis, Hyper... |
ORPHA:35710 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Exercise-induced myalgia, Re... |
ORPHA:157 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Chronic constipation, Feeding difficulties in infancy, High palate, Congenital ptosis, Failure to... |
ORPHA:476126 |
| Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Hypospadias, Hydronephrosis, Orthostatic hypotension, Slow pupillary light response, Failure to t... |
OMIM:191800 |
| Autosomal Dominant Spastic Paraplegia Type 8 |
|
Urinary incontinence, Urinary urgency |
ORPHA:100989 |
| 3-Methylglutaconic Aciduria, Type I |
|
Failure to thrive, 3-Methylglutaconic aciduria, Urinary incontinence, Optic atrophy |
OMIM:250950 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Microphthalmia, Large for gestational age, Median cleft palate, Corneal opacity, Rec... |
ORPHA:2432 |
| Primary Hyperoxaluria |
|
Optic atrophy, Optic disc pallor, Nephrocalcinosis, Hyperoxaluria, Calcium oxalate nephrolithiasi... |
ORPHA:416 |
| C Syndrome |
|
Renal cortical cysts, High palate, Failure to thrive, Upslanted palpebral fissure, Epicanthus |
OMIM:211750 |
| Acrocephalopolydactyly |
|
Protuberant abdomen, Epicanthus, Abnormal renal morphology |
ORPHA:221054 |
| Acute Zonal Occult Outer Retinopathy |
|
Vitreous inflammatory cells, Macular drusen, Abnormal fundus fluorescein angiography, Retinal pig... |
ORPHA:284454 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Fatigue, Abnormal urinary color |
ORPHA:90037 |
| Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bone pain, Aminoaciduria, Vomiting, Nephrocalcinosis, Failure to thrive, Proxi... |
ORPHA:18 |
| Spinocerebellar Ataxia 17 |
|
Urinary incontinence, Dysphagia, Intention tremor |
OMIM:607136 |
| Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Optic atrophy, Feeding difficulties in infancy, Develo... |
OMIM:615663 |
| Diarrhea 8, Secretory Sodium, Congenital |
|
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium |
OMIM:616868 |
| Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability |
|
Renal potassium wasting, Renal magnesium wasting, Nephrocalcinosis |
ORPHA:564178 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Head tremor, Urinary incontinence, Cataract |
ORPHA:320391 |
| Intellectual Disability-Strabismus Syndrome |
|
Hypospadias, Highly arched eyebrow, Chronic constipation, High palate, Failure to thrive, Upslant... |
ORPHA:363528 |
| Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Vomiting, Nausea, Abdominal distention, Malabsorption, Dyspepsia, Abnormal small intestinal mucos... |
ORPHA:103907 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Urinary incontinence, Osteomyelitis |
OMIM:613115 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent bacterial infections, Cholangitis, Villous atrophy, Recurrent protozoan infections, Inf... |
OMIM:209920 |
| Congenital Tufting Enteropathy |
|
Villous atrophy, Corneal erosion, Vomiting, Failure to thrive, Abdominal distention, Weight loss,... |
ORPHA:92050 |
| Familial Isolated Hyperparathyroidism |
|
Hyperphosphaturia, Nephrocalcinosis, Abdominal symptom, Hypercalciuria, Renal insufficiency |
ORPHA:99879 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Urinary urgency, Vomiting, Urinary incontinence, Hiatus hernia, Cataract, Gastroesophageal reflux |
OMIM:601162 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
| Paganini-Miozzo Syndrome |
|
Feeding difficulties, Urinary incontinence, Downslanted palpebral fissures |
OMIM:301025 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Miosis, Microphthalmia, Cataract |
OMIM:156850 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Bowel incontinence, Urinary incontinence |
OMIM:236690 |
| Bresek Syndrome |
|
Renal hypoplasia, Cleft palate, Aganglionic megacolon, Microphthalmia, Renal dysplasia, Optic ner... |
ORPHA:85284 |
| Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Optic atrophy, Urinary incontinence, Dysphagia, Bowel incontinence |
OMIM:618868 |
| Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Aminoaciduria, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, V... |
ORPHA:47159 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Retinal dystrophy, Urinary incontinence, Obesity |
ORPHA:464282 |
| Atresia Of Small Intestine |
|
Vomiting, Failure to thrive, Feeding difficulties, Abdominal distention, Jejunal atresia, Intesti... |
ORPHA:1201 |
| Oculocerebrodental Syndrome |
|
Developmental cataract, Epicanthus, Nephrocalcinosis |
ORPHA:557003 |
| Porphyria Variegata |
|
Abnormal autonomic nervous system physiology, Constipation, Hepatocellular carcinoma, Nausea, Che... |
ORPHA:79473 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Feeding difficulties in infancy, Ptosis, Detrusor sphincter dyssynergia, Intention tremor, Urinar... |
ORPHA:466722 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Nephrocalcinosis, Glycosuria, Large for gestational age, Aminoaciduria, Protei... |
OMIM:616026 |
| Spinocerebellar Ataxia Type 25 |
|
Episodic abdominal pain, Urinary urgency, Vomiting |
ORPHA:101111 |
| Al Amyloidosis |
|
Abnormal salivary gland morphology, Dysphagia, Nephrotic syndrome, Macroglossia, Xerostomia, Abdo... |
ORPHA:85443 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent bacterial infections, Meningitis, Recurrent respiratory infections, Recurrent pneumonia |
OMIM:613500 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Small for gestational age, Failure to thrive, Decreased nerve conduction velocity, Urinary incont... |
OMIM:604320 |
| Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Mydriasis, Abnormal cranial nerve morphology, Pneumoni... |
ORPHA:79138 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media, Failure... |
OMIM:616022 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Myoglobinuria, Exercise-induced myalgia, Red-brown urine, Episodic abdominal pain, Myalgia, Hepat... |
ORPHA:228305 |
| Spinocerebellar Ataxia 25 |
|
Urinary urgency, Vomiting |
OMIM:608703 |
| Amyotrophic Dystonic Paraplegia |
|
Bowel incontinence, Urinary incontinence |
OMIM:105300 |
| Ring Chromosome 8 Syndrome |
|
Hydronephrosis, Abnormality of the ureter |
ORPHA:1450 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Opisthotonus, Nephrocalcinosis, Feeding difficulties, Renal cyst, Cataract, 3-Methylglutaconic ac... |
ORPHA:445038 |
| Myxopapillary Ependymoma |
|
Neck pain, Autonomic bladder dysfunction, Abnormal large intestine physiology, Vomiting |
ORPHA:251643 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Facial diplegia, Decreased nerve conduction velocity, Back pain, Tremor, Myalgia, Urinary inconti... |
ORPHA:329478 |
| Duplication Of Urethra |
|
Hypospadias, Bladder duplication, Micropenis, Rectourethral fistula, Chordee, Pain, Anal atresia,... |
ORPHA:237 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cystic renal dysplasia, High, narrow palate, Myoglobinuria, Tubulointerstitial nephritis, Red-bro... |
ORPHA:228308 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Nephropathy |
OMIM:208085 |
| Primary Hyperoxaluria Type 2 |
|
Ureteral obstruction, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Recurrent urinary tract i... |
ORPHA:93599 |
| Anterior Cutaneous Nerve Entrapment Syndrome |
|
Recurrent infection of the gastrointestinal tract, Anorexia, Nausea, Abdominal distention, Back p... |
ORPHA:51890 |
| Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Diarrhea, Vomiting, Abdominal colic |
ORPHA:35122 |
| Secondary Short Bowel Syndrome |
|
Sepsis, Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Vomiting, Fai... |
ORPHA:95427 |
| Renal Hypoplasia |
|
Urethral valve, Hydronephrosis, Abnormality of the ureter, Pelvic kidney, Glomerulomegaly, Abnorm... |
ORPHA:93101 |
| Isolated Optic Nerve Hypoplasia/Aplasia |
|
Chorioretinal coloboma, Optic disc hypoplasia, Optic nerve hypoplasia, Aplasia/Hypoplasia of the ... |
ORPHA:137902 |
| Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Optic atrophy, Dysphagia, Hand tremor, Urinary incontinence, Bowel incontinence |
ORPHA:289560 |
| Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria, Abdominal pain |
OMIM:600989 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... |
OMIM:601331 |
| Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication, Corneal erosion, Rectovaginal fistula, Abdominal distention, Optic disc col... |
OMIM:270420 |
| Fabry Disease |
|
Lipiduria, Tenesmus, Vomiting, Nausea, Urinary mulberry cells, Corneal dystrophy, Diarrhea, Prote... |
OMIM:301500 |
| Hinman Syndrome |
|
Hydronephrosis, Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Bowel incont... |
ORPHA:84085 |
| Erythermalgia, Primary |
|
Keratoconjunctivitis sicca, Erythromelalgia, Xerostomia, Pain, Jaw pain, Myalgia, Diarrhea, Const... |
OMIM:133020 |
| Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Urinary incontinence, Hypermyelinated retinal nerve fibers, Dysphagia, Intention tremor |
ORPHA:98 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis |
OMIM:614473 |
| Bladder Diverticulum |
|
Urethral sphincter sclerosis, Urinary hesitancy, Hematuria, Dysuria, Recurrent urinary tract infe... |
OMIM:109820 |
| Parkinson Disease, Late-Onset |
|
Dysphagia, Urinary urgency, Tremor, Resting tremor, Constipation, Abnormal autonomic nervous syst... |
OMIM:168600 |
| Mirizzi Syndrome |
|
Anorexia, Chills, Vomiting, Nausea, Abdominal distention, Pancreatitis, Dark urine, Abdominal col... |
ORPHA:521219 |
| Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Abnormal autonomic nervous system physiology, Optic atrophy, Constipation, Neurogenic bladder |
ORPHA:466934 |
| Autosomal Dominant Centronuclear Myopathy |
|
Pyloric stenosis, Ptosis, Exercise-induced myalgia, Large for gestational age, Urinary incontinence |
ORPHA:169189 |
| Machado-Joseph Disease |
|
Dysphagia, Chronic pain, Urinary bladder sphincter dysfunction, Ptosis, Abnormal autonomic nervou... |
OMIM:109150 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Tremor, Urinary incontinence |
OMIM:617145 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
High palate, Nephrocalcinosis, Renal cyst, Large for gestational age, Ureteral stenosis, Hypercal... |
OMIM:615398 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Hypercalciuria |
OMIM:617993 |
| Rere-Related Neurodevelopmental Syndrome |
|
Hypospadias, Optic atrophy, Dysphagia, Broad eyebrow, Chorioretinal coloboma, Microphthalmia, Pto... |
ORPHA:494344 |
| Pierpont Syndrome |
|
Narrow palpebral fissure, Microphthalmia, Failure to thrive, Feeding difficulties, Telecanthus, M... |
OMIM:602342 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... |
ORPHA:976 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Nephrocalcinosis, Proximal tubulopathy, Nephrolithiasis, Renal phosphate wasting, Low-molecular-w... |
OMIM:300554 |
| 2Q24 Microdeletion Syndrome |
|
Cleft palate, Microphthalmia, Small for gestational age, Abnormality iris morphology, Failure to ... |
ORPHA:1617 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Arthralgia, Fatigue, Abnormal urinary color |
ORPHA:90033 |
| Hyperoxaluria, Primary, Type I |
|
Optic atrophy, Optic neuropathy, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hyperoxaluria... |
OMIM:259900 |
| Adult Polyglucosan Body Disease |
|
Urinary incontinence, Urinary bladder sphincter dysfunction, Neurogenic bladder |
ORPHA:206583 |
| Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Dependency on parenteral nutrition, Vomiting, Bronchiectasis, Abdominal distenti... |
OMIM:619445 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Dysphagia, Cleft palate, Ptosis, Feeding difficulties, Facial palsy, Urinary incontinence |
OMIM:301041 |
| Episodic Pain Syndrome, Familial, 3 |
|
Pain, Abnormal autonomic nervous system physiology |
OMIM:615552 |
| Wolfram Syndrome |
|
Optic atrophy, Feeding difficulties in infancy, Gastric ulcer, Abnormality of the urinary system,... |
ORPHA:3463 |
| Hepatoerythropoietic Porphyria |
|
Seborrhoeic blepharitis, Increased fecal porphyrin, Ectropion, Purple urine, Red-brown urine, Rec... |
ORPHA:95159 |
| Ramos-Arroyo Syndrome |
|
Abnormal autonomic nervous system physiology, Narrow palpebral fissure, Aganglionic megacolon, Fe... |
ORPHA:1051 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Tubulointerstitial fibrosis, Periodontitis, Diarrhea, Nephro... |
ORPHA:79259 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Dysphagia, Abnormal auditory evoked potentials, Urinary urgency, Head titubation, Urinary retenti... |
ORPHA:99027 |
| Congenital Pancreatic Cyst |
|
Anorexia, Vomiting, Abdominal distention, Pancreatitis, Abdominal pain |
ORPHA:313906 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Chorioretinal dysplasia, Microphthalmia |
OMIM:616335 |
| Currarino Syndrome |
|
Gastrointestinal obstruction, Horseshoe kidney, Chronic constipation, Sepsis, Rectovaginal fistul... |
OMIM:176450 |
| Congenital Hypothyroidism |
|
Sinusitis, Optic atrophy, Feeding difficulties in infancy, Macroglossia, Abdominal distention, Ne... |
ORPHA:442 |
| Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydronephrosis, Hydroureter |
OMIM:264140 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Dysphagia, Nasogastric tube feeding, Resting tremor, Urinary incontinence, Poor suck, Recurrent u... |
ORPHA:225147 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
High palate, Microphthalmia, Upslanted palpebral fissure, Epicanthus, Cataract, Microcornea |
ORPHA:2528 |
| Trichohepatoenteric Syndrome 1 |
|
Hypospadias, Villous atrophy, Small for gestational age, Failure to thrive, Bifid uvula, Downslan... |
OMIM:222470 |
| Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Increased renal tubular phosphate reabsorption, Conjunctival whitish salt-like deposits, Nephroca... |
OMIM:211900 |
| Xq28 (MECP2) duplication |
|
Dysphagia, Feeding difficulties in infancy, Failure to thrive, Functional abnormality of the blad... |
DECIPHER:45 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Microphthalmia, Orbital cyst |
OMIM:251505 |
| Spinocerebellar Ataxia Type 42 |
|
Psoriasiform dermatitis, Dysphagia, Urinary urgency, Urinary incontinence, Resting tremor, Head t... |
ORPHA:458803 |
| Myopathy, Myofibrillar, 7 |
|
Dysphagia, Facial palsy, Enuresis nocturna, Myalgia, Urinary incontinence, Tongue atrophy, Bowel ... |
OMIM:617114 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Developmental cataract, Microphthalmia, Small for gestational age, Micropenis, Cataract |
OMIM:610756 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections |
OMIM:308220 |
| Acro-Renal-Ocular Syndrome |
|
Horseshoe kidney, Aganglionic megacolon, Renal malrotation, Chorioretinal coloboma, Microphthalmi... |
ORPHA:959 |
| Spinocerebellar Ataxia Type 13 |
|
Optic atrophy, Dysphagia, Optic disc pallor, Urinary urgency, Urinary incontinence, Titubation |
ORPHA:98768 |
| Autosomal Dominant Spastic Paraplegia Type 12 |
|
Bowel incontinence, Urinary incontinence, Urinary urgency |
ORPHA:100993 |
| Leukodystrophy, Hypomyelinating, 12 |
|
Abnormal autonomic nervous system physiology, Optic atrophy, Constipation, Neurogenic bladder |
OMIM:616683 |
| Trisomy 20P |
|
Hypospadias, Highly arched eyebrow, Hydronephrosis, Abnormality of the ureter, Ectopic anus, Upsl... |
ORPHA:261318 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Urinary incontinence |
OMIM:600795 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Recurrent oppo... |
ORPHA:911 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Dysphagia, Abnormal cranial nerve morphology, Intention tremor, Macular degeneration, Resting tre... |
ORPHA:247234 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Cleft palate, Microphthalmia, Ptosis, Recurrent otitis media, Multiple bladder diverticula, Prote... |
ORPHA:2728 |
| Plague |
|
Conjunctival hyperemia, Sepsis, Mydriasis, Inflammation of the large intestine, Chills, Fatigue, ... |
ORPHA:707 |
| Neural Tube Defects, Susceptibility To |
|
Urinary incontinence, Myelomeningocele |
OMIM:182940 |
| Nanophthalmos 4 |
|
Optic disc drusen, Microphthalmia |
OMIM:615972 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Urinary retention, Dysuria, Polycystic ovaries, Acne, Urinary incontinence, Abnormality of the ur... |
ORPHA:2795 |
| Indifference To Pain, Congenital, Autosomal Recessive |
|
Urinary incontinence, Abnormal autonomic nervous system physiology |
OMIM:243000 |
| Renal Tubular Acidosis Iii |
|
Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis |
OMIM:267200 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Decreased glomerular filtration rate, Nephrolithiasis, Nephrocalcinosis, Hypercalciuria |
OMIM:601198 |
| Peroxisome Biogenesis Disorder 14B |
|
Urinary incontinence, Developmental cataract |
OMIM:614920 |
| Isolated Biliary Atresia |
|
Small for gestational age, Failure to thrive, Dark yellow urine, Decreased liver function, Xanthe... |
ORPHA:30391 |
| Hyperoxaluria, Primary, Type Ii |
|
Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Aminoaciduria, Renal... |
OMIM:260000 |
| Apparent Mineralocorticoid Excess |
|
Nephrocalcinosis, Failure to thrive, Abnormal urine sodium concentration, Renal insufficiency, Hy... |
ORPHA:320 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Diarrhea, Constipation, Abnormal autonomic nervous system physiology |
OMIM:615548 |
| Warburg Micro Syndrome 3 |
|
Optic atrophy, Developmental cataract, Microphthalmia, Shallow anterior chamber, Narrow palate, M... |
OMIM:614222 |
| Foix-Alajouanine Syndrome |
|
Colonic inertia, Urinary retention, Back pain, Functional abnormality of the bladder, Urinary inc... |
ORPHA:79093 |
| Thymic Aplasia |
|
Sinusitis, Sepsis, Chronic otitis media, Recurrent infections, Recurrent candida infections, Diar... |
ORPHA:83471 |
| Mitchell Syndrome |
|
Dysphagia, Abnormal autonomic nervous system physiology |
OMIM:618960 |
| Parathyroid Carcinoma |
|
Nausea and vomiting, Dysphagia, Mandibular pain, Constipation, Nephrocalcinosis, Weight loss, Ren... |
ORPHA:143 |
| Metachromatic Leukodystrophy |
|
Neoplasm of the gallbladder, Limb pain, Feeding difficulties, Pain, Gastrostomy tube feeding in i... |
ORPHA:512 |
| Caribbean Parkinsonism |
|
Orthostatic hypotension, Autonomic bladder dysfunction, Action tremor, Abnormal autonomic nervous... |
ORPHA:97355 |
| Hypocomplementemic Urticarial Vasculitis |
|
Recurrent bacterial infections, Nausea and vomiting, Episcleritis, Hematuria, Arthritis, Myalgia,... |
ORPHA:36412 |
| Scorpion Envenomation |
|
Myocarditis, Mydriasis, Chills, Vomiting, Miosis, Pain, Glycosuria, Tremor, Acute kidney injury, ... |
ORPHA:466677 |
| Oculogastrointestinal Muscular Dystrophy |
|
Cachexia, Abnormal gastric mucosa morphology, Intestinal pseudo-obstruction, Ptosis, Spontaneous ... |
ORPHA:1876 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Hypospadias, Microphthalmia, Anophthalmia, Sclerocornea, Long eyelashes, Epicanthus, Cataract, Mi... |
OMIM:615877 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Buphthalmos, High palate, Nephrocalcinosis, Failure to thrive, Feeding difficulties |
OMIM:618005 |
| Childhood Disintegrative Disorder |
|
Bowel incontinence, Urinary incontinence |
ORPHA:168782 |
| Inflammatory Pseudotumor Of The Liver |
|
Vomiting, Nausea, Abdominal distention, Weight loss, Neoplasm of the liver, Asthenia, Abdominal pain |
ORPHA:90003 |
| Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Generalized aminoaciduria, Renal tubular dysfunction, Failure to thrive, Abdom... |
OMIM:227810 |
| Colonic Atresia |
|
Colonic atresia, Abdominal distention |
OMIM:303650 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Urinary incontinence |
OMIM:221770 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Feeding difficulties in infancy, Buphthalmos, Chronic otitis media, Proximal renal tubular acidos... |
ORPHA:534 |
| Fraser Syndrome 2 |
|
Renal hypoplasia, Renal agenesis, Aplasia of the bladder, Abdominal distention, Cryptophthalmos |
OMIM:617666 |
| Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Vomiting, Abdominal distention, Abnormality of enteric ganglion morphology... |
OMIM:142623 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Hypospadias, Cleft palate, Microphthalmia, Upslanted palpebral fissure, Epicanthus, Downslanted p... |
OMIM:616734 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Abnormal autonomic nervous system physiology, Hydronephrosis, High palate, Cleft palate, Ptosis, ... |
ORPHA:453499 |
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Nonarteritic anterior ischemic optic neuropathy, Urinary incontinence, Pseudobulbar paralysis |
OMIM:125310 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Optic atrophy, Dysphagia, Chronic constipation, Upslanted palpebral fissure, Feeding difficulties... |
ORPHA:496641 |
| Megabladder, Congenital |
|
Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease |
OMIM:618719 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Intestinal pseudo-obstruction, Ptosis, Lacrimal duct stenosis, Fetal megacystis, Downslanted palp... |
ORPHA:73246 |
| Dysmyelination With Jaundice |
|
Hydronephrosis, Hypoplasia of penis, Hydroureter |
OMIM:224250 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
High, narrow palate, Morphological abnormality of the gastrointestinal tract, Nephrocalcinosis, A... |
ORPHA:369837 |
| Renal Nutcracker Syndrome |
|
Nausea, Orthostatic hypotension, Hematuria, Weight loss, Flank pain, Microscopic hematuria, Fatig... |
ORPHA:71273 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Urinary incontinence, Decreased distal sensory nerve action potential, Urinary urgency |
OMIM:606071 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Dysphagia, Urinary incontinence, Decreased body weight, Thick eyebrow, Bowel incontinence |
OMIM:300243 |
| Cap Polyposis |
|
Colorectal polyposis, Constipation, Atrophic gastritis, Abdominal distention, Weight loss, Diarrh... |
ORPHA:160148 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Optic atrophy, Upslanted palpebral fissure, Feeding difficulties, Sparse eyebrow, Urinary inconti... |
OMIM:617193 |
| Urofacial Syndrome 1 |
|
Urethral valve, Hydronephrosis, Recurrent urinary tract infections, Enuresis, Urethral obstructio... |
OMIM:236730 |
| Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Severe recurrent varicella |
OMIM:300645 |
| Fragile X Tremor/Ataxia Syndrome |
|
Postural tremor, Intention tremor, Myalgia, Urinary incontinence, Resting tremor, Action tremor, ... |
OMIM:300623 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Duodenal stenosis, Hydroureter, Abnormality of the upper urinary tract, Hypoplasi... |
ORPHA:2547 |
| Acute Transverse Myelitis |
|
Urinary bladder sphincter dysfunction, Urinary retention, Orthostatic hypotension, Gastroparesis,... |
ORPHA:139417 |
| Schimke Immuno-Osseous Dysplasia |
|
Focal segmental glomerulosclerosis, Abnormal intestine morphology, Minimal change glomerulonephri... |
ORPHA:1830 |
| Huntington Disease-Like 3 |
|
Bowel incontinence, Urinary incontinence |
OMIM:604802 |
| Metachromatic Leukodystrophy, Adult Form |
|
Optic atrophy, Neoplasm of the gallbladder, Orthostatic hypotension due to autonomic dysfunction,... |
ORPHA:309271 |
| Immunodeficiency 30 |
|
Recurrent infections, Recurrent mycobacterial infections |
OMIM:614891 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Optic atrophy, Feeding difficulties in infancy, Abdominal distention, Decreased nerve conduction ... |
ORPHA:309256 |
| Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
| Melkersson-Rosenthal Syndrome |
|
Inflammatory abnormality of the skin, Macroglossia, Cheilitis, Facial palsy, Furrowed tongue, Oli... |
ORPHA:2483 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic atrophy, Macular atrophy, Optic disc pallor, Microphthalmia, Retinopathy, Cataract, Microco... |
OMIM:616171 |
| Exstrophy-Epispadias Complex |
|
Bladder duplication, Renal dysplasia, Bladder fistula, Penoscrotal transposition, Abnormality of ... |
ORPHA:322 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Optic atrophy, Abdominal distention, Decreased nerve conduction velocity, Intention tremor, Urina... |
ORPHA:309263 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Sepsis, Cholangitis, Recurrent herpes, Recurrent infections, Fatigue, Recurrent respiratory infec... |
ORPHA:183675 |
| Selective Igm Deficiency |
|
Sepsis, Severe varicella zoster infection, Non-infectious meningitis, Recurrent herpes, Fasciitis... |
ORPHA:331235 |
| Chiari Malformation Type I |
|
Neck pain, Urinary incontinence, Dysphagia |
OMIM:118420 |
| Renal Tubular Acidosis, Distal, 1 |
|
Renal tubular acidosis, Nephrocalcinosis |
OMIM:179800 |
| Pituitary Apoplexy |
|
Mydriasis, Nausea and vomiting, Ptosis, Fatigue, Trigeminal neuralgia |
ORPHA:95613 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nausea and vomiting, Dysphagia, Mandibular pain, Constipation, Nephrocalcinosis, Renal cyst, Neph... |
ORPHA:99880 |
| Ficolin 3 Deficiency |
|
Recurrent abscess formation, Necrotizing enterocolitis, Recurrent Staphylococcus aureus infection... |
OMIM:613860 |
| Tyrosinemia, Type I |
|
Renal Fanconi syndrome, Hepatocellular carcinoma, Nephrocalcinosis, Failure to thrive, Glomerular... |
OMIM:276700 |
| Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia, Retinal dysplasia |
OMIM:615771 |
| Bartter Syndrome, Type 2, Antenatal |
|
Vomiting, Nephrocalcinosis, Increased urinary potassium, Small for gestational age, Hyperprostagl... |
OMIM:241200 |
| Isolated Epispadias |
|
Urinary incontinence, Anteriorly displaced urethral meatus, Epispadias, Vesicoureteral reflux |
ORPHA:93928 |
| Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:613495 |
| Lower Urinary Tract Obstruction, Congenital |
|
Urethral stenosis, Congenital posterior urethral valve, Pollakisuria, Urinary incontinence, Vesic... |
OMIM:618612 |
| Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
| Nephrogenic Diabetes Insipidus |
|
Nausea and vomiting, Anorexia, Failure to thrive, Feeding difficulties, Enuresis nocturna, Functi... |
ORPHA:223 |
| Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
| Autosomal Dominant Hypocalcemia |
|
Optic atrophy, Eczema, Nephrocalcinosis, Fatigable weakness, Hypermagnesiuria, Hypercalciuria, Ab... |
ORPHA:428 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Hydronephrosis, Aplasia of the bladder, Vomiting, Abnormality of the urinary system, Renal dyspla... |
ORPHA:158684 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Micropenis, Aganglionic megacolon, Abnormal autonomic nervous system physiology |
OMIM:613870 |
| Hanac Syndrome |
|
Hematuria, Retinal vascular tortuosity, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
| Sandhoff Disease |
|
Cherry red spot of the macula, Macroglossia, Orthostatic hypotension, Exaggerated startle respons... |
OMIM:268800 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Recurrent candida infections |
OMIM:242870 |
| Congenital Erythropoietic Porphyria |
|
Seborrhoeic blepharitis, Increased fecal coproporphyrin 1, Ectropion, Purple urine, Red-brown uri... |
ORPHA:79277 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent otitis media, Chronic sinusitis, Recurrent pneumonia, R... |
OMIM:613502 |
| Huntington Disease-Like 3 |
|
Bowel incontinence, Urinary incontinence |
ORPHA:157946 |
| Bartter Syndrome, Type 1, Antenatal |
|
Vomiting, Nephrocalcinosis, Increased urinary potassium, Small for gestational age, Hyperprostagl... |
OMIM:601678 |
| Trisomy 13 |
|
High, narrow palate, Hydronephrosis, Abnormality of the ureter, Cleft palate, Optic atrophy, Micr... |
ORPHA:3378 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Tremor, Optic atrophy, Abnormal autonomic nervous system physiology |
ORPHA:329284 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Tremor, Urinary incontinence |
OMIM:213600 |
| Marchiafava-Bignami Disease |
|
Malnutrition, Urinary incontinence, Facial palsy, Vomiting |
ORPHA:221074 |
| Prune Belly Syndrome |
|
Abnormality of the ureter, Congenital posterior urethral valve, Failure to thrive, Volvulus, Inte... |
ORPHA:2970 |
| Glycogen Storage Disease Ib |
|
Recurrent bacterial infections, Focal segmental glomerulosclerosis, Hepatocellular carcinoma, Lip... |
OMIM:232220 |
| Athyreosis |
|
Macroglossia, Feeding difficulties, Abdominal distention, Fatigue, Constipation |
ORPHA:95713 |
| Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hyperphosphaturia, Medullary nephrocalcinosis |
OMIM:613312 |
| Autosomal Dominant Spastic Paraplegia Type 9A |
|
Developmental cataract, Urinary urgency, Pollakisuria, Tremor, Urinary incontinence, Lower limb p... |
ORPHA:447753 |
| Diverticulosis Of Bowel, Hernia, And Retinal Detachment |
|
Colonic diverticula, Retinal detachment, Small bowel diverticula, Bladder diverticulum |
OMIM:223330 |
| Macdermot-Winter Syndrome |
|
Hydronephrosis |
OMIM:247990 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Microphthalmia, Chorioretinal coloboma, Anophthalmia, Iris coloboma |
OMIM:616428 |
| Cockayne Syndrome |
|
Feeding difficulties in infancy, Abnormal renal physiology, Gastrostomy tube feeding in infancy, ... |
ORPHA:191 |
| Lead Poisoning |
|
Renal tubular dysfunction, Tubulointerstitial nephritis, Anorexia, Vomiting, Abdominal cramps, Na... |
ORPHA:330015 |
| Faciothoracogenital Syndrome |
|
Microphthalmia, Glandular hypospadias |
OMIM:227320 |
| Postinfectious Vasculitis |
|
Severe varicella zoster infection, Chills, Recurrent candida infections, Abdominal pain, Inflamma... |
ORPHA:48435 |
| Nephronophthisis 20 |
|
Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease |
OMIM:617271 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hyperphosphaturia, Nephrolithiasis, Medullary nephrocalcinosis, Hypercalciuria, Bone pain |
ORPHA:157215 |
| Thomas Syndrome |
|
Multicystic kidney dysplasia, Cleft palate, Renal hypoplasia/aplasia, Downslanted palpebral fissures |
ORPHA:3316 |
| Adrenoleukodystrophy |
|
Bowel incontinence, Urinary incontinence, Urinary bladder sphincter dysfunction |
OMIM:300100 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Hyperechogenic kidneys, Renal hypoplasia, Optic nerve hypoplasia, Microphthalmia |
OMIM:617914 |
| Sepsis In Premature Infants |
|
Vomiting, Small for gestational age, Functional abnormality of the gastrointestinal tract, Gastro... |
ORPHA:90051 |
| Obesity Due To Sim1 Deficiency |
|
Obesity, Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system ph... |
ORPHA:369873 |
| Encephalitis Lethargica |
|
Limb pain, Recurrent viral infections, Tremor, Myalgia, Urinary incontinence, Bowel incontinence |
ORPHA:83600 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Dysphagia, Cachexia, Opisthotonus, Head titubation, Gastrostomy tube feeding in infancy, Urinary ... |
ORPHA:300605 |
| Central Diabetes Insipidus |
|
Nausea and vomiting, Anorexia, Failure to thrive, Weight loss, Diarrhea, Nocturia |
ORPHA:178029 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
| Multiple System Atrophy |
|
Postural tremor, Orthostatic hypotension due to autonomic dysfunction, Resting tremor, Autonomic ... |
ORPHA:102 |
| Epilepsy, Familial Focal, With Variable Foci 4 |
|
Abnormal autonomic nervous system physiology |
OMIM:617935 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Horseshoe kidney, Unilateral ptosis, Anal atresia, Unilateral microphthalmos, Bilateral microphth... |
OMIM:619318 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Foot osteomyelitis, Abnormal autonomic nervous system ... |
ORPHA:139578 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Macular atrophy, Microphthalmia, Chorioretinal coloboma, Retinal dystrophy, Miosis, Iris coloboma... |
OMIM:212550 |
| Joubert Syndrome 14 |
|
Highly arched eyebrow, Microphthalmia, Morning glory anomaly, Ptosis, Epicanthus, Renal cyst, Dow... |
OMIM:614424 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Tremor, Abnormal autonomic nervous system physiology |
OMIM:300894 |
| Biemond Syndrome Type 2 |
|
Hypospadias, Obesity, Microphthalmia |
ORPHA:141333 |
| Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:615468 |
| Williams-Beuren Syndrome |
|
Feeding difficulties in infancy, Rectal prolapse, Micropenis, Enuresis, Hypercalciuria, Medial fl... |
OMIM:194050 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Urinary urgency |
OMIM:605909 |
| Spastic Paraplegia Type 2 |
|
Optic atrophy, Bowel incontinence, Recurrent respiratory infections, Spastic/hyperactive bladder |
ORPHA:99015 |
| Amelogenesis Imperfecta, Type Ig |
|
Nephrocalcinosis, Impaired renal concentrating ability, Enuresis, Polyuria, Renal insufficiency |
OMIM:204690 |
| Beckwith-Wiedemann Syndrome |
|
Renal cortical cysts, Nephrocalcinosis, Macroglossia, Nephrolithiasis, Hepatoblastoma, Vesicouret... |
OMIM:130650 |
| Familial Dysautonomia |
|
Optic atrophy, Feeding difficulties in infancy, Corneal erosion, Orthostatic hypotension, Renal i... |
ORPHA:1764 |
| Shwachman-Diamond Syndrome 1 |
|
Small for gestational age, Nephrocalcinosis, Failure to thrive, Recurrent infections, Steatorrhea |
OMIM:260400 |
| Adrenomyeloneuropathy |
|
Abnormality of central somatosensory evoked potentials, Urinary urgency, Urinary bladder sphincte... |
ORPHA:139399 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Dysphagia, Urinary bladder sphincter dysfunction, Pollakisuria, Intention tremor, Myalgia, Bowel ... |
ORPHA:93256 |
| Roussy-Lévy Syndrome |
|
Postural tremor, Decreased motor nerve conduction velocity, Urinary bladder sphincter dysfunction |
ORPHA:3115 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hydronephrosis, Duplicated collecting system |
OMIM:617093 |
| Autosomal Recessive Spastic Paraplegia Type 15 |
|
Pseudobulbar paralysis, Hand tremor, Retinal flecks, Functional abnormality of the bladder, Pigme... |
ORPHA:100996 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Hypospadias, Highly arched eyebrow, Narrow palpebral fissure, Sparse eyelashes, Ptosis, Recurrent... |
OMIM:619293 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Sinusitis, Rec... |
ORPHA:572 |
| Seckel Syndrome 2 |
|
Hypospadias, Microphthalmia, Small for gestational age, Microglossia, Ectopic kidney |
OMIM:606744 |
| Joubert Syndrome 35 |
|
Highly arched eyebrow, Hydronephrosis, Ptosis, Telecanthus, Rod-cone dystrophy, Recurrent urinary... |
OMIM:618161 |
| Immunodeficiency, Common Variable, 2 |
|
Recurrent bacterial infections, Recurrent bronchitis, Bronchiectasis, Recurrent otitis media, Men... |
OMIM:240500 |
| Joubert Syndrome 5 |
|
Renal cortical cysts, Retinal coloboma, Nephronophthisis, Stage 5 chronic kidney disease, Rod-con... |
OMIM:610188 |
| Trisomy X |
|
Upslanted palpebral fissure, Epicanthus, Tremor, Multicystic kidney dysplasia, Renal hypoplasia/a... |
ORPHA:3375 |
| Bardet-Biedl Syndrome 4 |
|
Retinal degeneration, Renal cyst, Rod-cone dystrophy, Obesity, Abnormality of the kidney |
OMIM:615982 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Feeding difficulties, Downslanted palpebral fissures, Urinary incontinence, Astigmatism, Constipa... |
OMIM:618885 |
| Multiple System Atrophy, Cerebellar Type |
|
Postural tremor, Orthostatic hypotension due to autonomic dysfunction, Resting tremor, Autonomic ... |
ORPHA:227510 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypoplasia of penis, Gastroesophageal reflux, Abnormal autonomic nervous system physiology |
ORPHA:168593 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Hand tremor, Optic nerve hypoplasia, Absent brainstem auditory responses, Decreased nerve conduct... |
ORPHA:101085 |
| Thyroid Hemiagenesis |
|
Macroglossia, Abdominal distention, Constipation, Fatigue |
ORPHA:95719 |
| Neuroleptic Malignant Syndrome |
|
Rigors, Sepsis, Dysphagia, Myoglobinuria, Vomiting, Nasogastric tube feeding, Nausea, Tremor, Acu... |
ORPHA:94093 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Tubulointerstitial fibrosis, ... |
ORPHA:85450 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent bacterial infections, Recurrent opportunistic infections, Failure to thrive, Recurrent ... |
ORPHA:275 |
| Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation |
|
Hypospadias, Microscopic nephrocalcinosis, Recurrent bronchopulmonary infections, Telecanthus, Ga... |
OMIM:219721 |
| Adnp Syndrome |
|
Vomiting, Bilateral ptosis, Juvenile cataract, Gastrostomy tube feeding in infancy, Slanting of t... |
ORPHA:404448 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent bacterial infections, Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Pyoder... |
OMIM:307200 |
| Multiple System Atrophy, Parkinsonian Type |
|
Postural tremor, Orthostatic hypotension due to autonomic dysfunction, Resting tremor, Autonomic ... |
ORPHA:98933 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Head titubation, Gastroparesis, Tremor, Urinary incontinence, Bowel incontinence |
OMIM:618877 |
| Meckel Syndrome, Type 10 |
|
Hypospadias, Narrow palpebral fissure, Cleft palate, Ptosis, Renal cyst, Epicanthus, Micropenis |
OMIM:614175 |
| Pseudoxanthoma Elasticum |
|
High palate, Retinal hemorrhage, Nephrocalcinosis, Acne, Gastrointestinal hemorrhage, Retinopathy... |
ORPHA:758 |
| Ring Chromosome 10 Syndrome |
|
Cachexia, Aganglionic megacolon, Microphthalmia, Downslanted palpebral fissures, Renal hypoplasia... |
ORPHA:1438 |
| Castleman Disease |
|
Ureteral obstruction, Nausea and vomiting, Constitutional symptom, Hematuria, Abdominal distentio... |
ORPHA:160 |
| Foveal Hypoplasia 2 |
|
Microphthalmia, Hypoplasia of the fovea, Posterior embryotoxon, Axenfeld anomaly, Foveal hyperpig... |
OMIM:609218 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Decreased liver function, Feeding difficulties in infancy, Renal cyst |
OMIM:614870 |
| T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections |
OMIM:614868 |
| Immunodeficiency, Common Variable, 1 |
