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