| Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
| Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
| Athrombia, Essential |
|
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion |
OMIM:209050 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... |
OMIM:619130 |
| Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired ADP-induced platelet agg... |
OMIM:187950 |
| Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
| Carbimazole Sensitivity |
|
Drug-induced agranulocytosis |
OMIM:212060 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation |
OMIM:618462 |
| Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
| Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
| Glanzmann Thrombasthenia 2 |
|
Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ... |
OMIM:619267 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Thrombocytopenia |
ORPHA:231393 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
| Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
| Nephronophthisis 7 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy |
OMIM:611498 |
| Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ... |
OMIM:615888 |
| Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
| Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
| Renal Glucosuria |
|
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia |
OMIM:233100 |
| Senior-Loken Syndrome 4 |
|
Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
| Senior-Loken Syndrome 5 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:609254 |
| Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
| Von Willebrand Disease, X-Linked Form |
|
Prolonged bleeding time |
OMIM:314560 |
| Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
| Bleeding Disorder, Platelet-Type, 11 |
|
Impaired collagen-induced platelet aggregation, Prolonged bleeding time, Abnormal platelet count,... |
OMIM:614201 |
| Glanzmann Thrombasthenia 1 |
|
Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ... |
OMIM:273800 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
| Platelet Disorder, Undefined |
|
Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
| Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
| Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
| Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
| Nephronophthisis 1 |
|
Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hyposthenuria... |
OMIM:256100 |
| Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platelet aggregation, Thr... |
OMIM:187800 |
| Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
| Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
| Hypokalemic Tubulopathy And Deafness |
|
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting |
OMIM:619406 |
| Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
| Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation |
OMIM:614009 |
| Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
| Glanzmann Thrombasthenia |
|
Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Impaired ADP-induced pla... |
ORPHA:849 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
| Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
| Hemolytic Anemia, Congenital, X-Linked |
|
Dark urine |
OMIM:301015 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Increased circulating corticosterone level, Renal salt wasting, Decreased circulati... |
OMIM:610600 |
| Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Periglomerular fibrosis, Stage 5 chronic kidney disease, Tubular l... |
OMIM:619468 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
| 2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Hypercalciuria, Nephrolithiasis, Nephrocalcinosi... |
OMIM:601198 |
| Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... |
OMIM:606995 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ... |
OMIM:241150 |
| Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
| Senior-Loken Syndrome 7 |
|
Nephronophthisis |
OMIM:613615 |
| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... |
OMIM:617610 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia, Polyuria |
OMIM:222100 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
| Indolent Systemic Mastocytosis |
|
Mastocytosis, Splenomegaly, Increased proportion of CD25+ mast cells, Abnormal mast cell morphology |
ORPHA:98848 |
| Hyperbiliverdinemia |
|
Green urine |
OMIM:614156 |
| Glycogen Storage Disease V |
|
Dark urine, Myoglobinuria |
OMIM:232600 |
| Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... |
OMIM:611555 |
| Tatsumi Factor Deficiency |
|
Prolonged bleeding time |
OMIM:272650 |
| Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
| Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis |
OMIM:154800 |
| Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
| Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... |
OMIM:613496 |
| Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... |
ORPHA:228302 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Decreased circ... |
OMIM:203400 |
| Bleeding Disorder, Platelet-Type, 8 |
|
Impaired ADP-induced platelet aggregation |
OMIM:609821 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... |
OMIM:300971 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney disease, Dysp... |
ORPHA:368 |
| Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Increased circulating reni... |
ORPHA:556037 |
| Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased c... |
OMIM:177735 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Giant platelets, Macrothrombo... |
OMIM:155100 |
| Blue Diaper Syndrome |
|
Nephrocalcinosis, Blue urine |
ORPHA:94086 |
| Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
| Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... |
OMIM:614377 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... |
ORPHA:656 |
| Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:605115 |
| Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... |
OMIM:300539 |
| Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly |
ORPHA:66661 |
| Harderoporphyria |
|
Increased urinary porphobilinogen, Red urine, Increased urine harderoporphyrin level |
OMIM:618892 |
| Platelet Glycoprotein Iv Deficiency |
|
Prolonged bleeding time, Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Increased circulating reni... |
ORPHA:556030 |
| Hermansky-Pudlak Syndrome 9 |
|
Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
| Becker Muscular Dystrophy |
|
Abnormal urinary color, Myoglobinuria |
ORPHA:98895 |
| Acquired Central Diabetes Insipidus |
|
Pollakisuria, Polydipsia |
ORPHA:95626 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
| Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level |
OMIM:103900 |
| Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Urethral valve, Hydroureter, Urethral obstruction, Enuresis, ... |
OMIM:236730 |
| Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
| Xanthinuria, Type I |
|
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis |
OMIM:278300 |
| Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... |
OMIM:191800 |
| Paroxysmal Cold Hemoglobinuria |
|
Abnormal urinary color, Hemoglobinuria |
ORPHA:90035 |
| Dubin-Johnson Syndrome |
|
Abnormal urinary color |
ORPHA:234 |
| Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
| Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Glomerulomegaly, Bilateral renal hyp... |
ORPHA:2260 |
| Hereditary Coproporphyria |
|
Dark urine, Porphyrinuria, Increased urinary porphobilinogen, Nephropathy, Elevated urinary delta... |
ORPHA:79273 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Stage 5... |
ORPHA:567548 |
| Liddle Syndrome 1 |
|
Renal insufficiency, Decreased circulating aldosterone level, Hypokalemia, Decreased circulating ... |
OMIM:177200 |
| Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Abnormal urinary color |
ORPHA:90037 |
| Joubert Syndrome 4 |
|
Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop... |
OMIM:609583 |
| Ocular Motor Apraxia |
|
Nephronophthisis |
OMIM:257550 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Prolonged bleeding time, Impaired platelet aggregation, Abnormal dense granule content, Thrombocy... |
OMIM:601399 |
| Central Diabetes Insipidus |
|
Polydipsia, Nocturia, Anorexia |
ORPHA:178029 |
| Macdermot-Winter Syndrome |
|
Hydronephrosis |
OMIM:247990 |
| Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, ... |
OMIM:232700 |
| Coach Syndrome 3 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht... |
OMIM:619113 |
| Holzgreve Syndrome |
|
Renal agenesis, Renal hypoplasia |
OMIM:236110 |
| Ataxia-Pancytopenia Syndrome |
|
Abnormal platelet function, Decreased circulating antibody level |
ORPHA:2585 |
| Cold Agglutinin Disease |
|
Abnormal urinary color |
ORPHA:56425 |
| Gray Platelet Syndrome |
|
Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha... |
OMIM:139090 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
| East Syndrome |
|
Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased... |
ORPHA:199343 |
| Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
| Senior-Boichis Syndrome |
|
Polydipsia, Thickening of the tubular basement membrane, Aggressive behavior, Chronic kidney dise... |
ORPHA:84081 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Abnormal fear-induced behavior, Increased urinary porphobilinogen, Agitation, Purpl... |
ORPHA:100924 |
| Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:618114 |
| Liddle Syndrome 3 |
|
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:618126 |
| Bleeding Disorder, Platelet-Type, 12 |
|
Impaired platelet aggregation |
OMIM:605735 |
| Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280785 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
| Teratoma, Pineal |
|
Polydipsia, Polyuria |
OMIM:273120 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Abnormal urinary color |
ORPHA:90036 |
| Vesicoureteral Reflux 3 |
|
Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Hydroureter, Grade III vesico... |
OMIM:613674 |
| Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... |
ORPHA:98850 |
| Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Anorexia, Functional abnormality of the bladder, Enuresis noctu... |
ORPHA:223 |
| Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
| Nephronophthisis 18 |
|
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... |
OMIM:615862 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypospadias, Renal salt wasting, Increased ci... |
ORPHA:90791 |
| Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Renal sodium wasting,... |
ORPHA:320 |
| Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
| Bernard-Soulier Syndrome |
|
Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation, Giant platelets, Macro... |
OMIM:231200 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
| Hartnup Disease |
|
Abnormal urinary color, Neutral hyperaminoaciduria |
ORPHA:2116 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Increased circ... |
ORPHA:171876 |
| Nephronophthisis 15 |
|
Nephronophthisis |
OMIM:614845 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
| Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... |
ORPHA:3467 |
| Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... |
OMIM:603278 |
| Von Willebrand Disease, Type 3 |
|
Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:277480 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Hyperaldosteronis... |
OMIM:214700 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Proximal renal tubul... |
ORPHA:427 |
| Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri... |
ORPHA:99845 |
| Senior-Loken Syndrome |
|
Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis |
ORPHA:3156 |
| Image Syndrome |
|
Hypospadias, Hydronephrosis |
ORPHA:85173 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
| Hyperaldosteronism, Familial, Type Iii |
|
Hypercalciuria, Polydipsia, Polyuria |
OMIM:613677 |
| Hermansky-Pudlak Syndrome 3 |
|
Impaired platelet aggregation, Abnormal number of dense granules |
OMIM:614072 |
| Cat-Eye Syndrome |
|
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:195 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color |
ORPHA:90033 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
| Cystinosis |
|
Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Nephropathy, Polydips... |
ORPHA:213 |
| Lessel-Kubisch Syndrome |
|
Renal insufficiency, Renal hypoplasia |
OMIM:618681 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Prolonged bleeding time, Macrothrombocytopenia, Absence of alpha granules, Impaired collagen-indu... |
OMIM:187900 |
| Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Polydipsia, Polyphagia |
OMIM:615986 |
| Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
| Bardet-Biedl Syndrome 19 |
|
Hydronephrosis, Renal insufficiency, Renal hypoplasia |
OMIM:615996 |
| Rhyns Syndrome |
|
Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
| Acute Intermittent Porphyria |
|
Dark urine, Restlessness, Renal insufficiency, Dysuria, Urinary incontinence, Porphyrinuria, Incr... |
ORPHA:79276 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... |
OMIM:602522 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... |
OMIM:308990 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst... |
ORPHA:157 |
| Nephronophthisis 19 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid... |
OMIM:616217 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... |
OMIM:602088 |
| Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Reduced natural killer cell activity, Reduced ant... |
OMIM:619374 |
| Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
| Congenital Myopathy 19 |
|
Renal atrophy, Hydronephrosis, Dysphagia |
OMIM:618578 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Megacystis, Polyuria |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Megacystis, Polyuria |
OMIM:304800 |
| 8P23.1 Duplication Syndrome |
|
Hydronephrosis |
ORPHA:251076 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Hypocalciuria, Increased... |
OMIM:612780 |
| Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
| Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Abnormality of the u... |
ORPHA:93552 |
| Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Cutaneous mastocytosis |
OMIM:248910 |
| Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Renal cyst |
ORPHA:79303 |
| Helix Syndrome |
|
Renal insufficiency, Polyuria, Nephrolithiasis, Hypocalciuria, Polydipsia |
OMIM:617671 |
| Bardet-Biedl Syndrome 17 |
|
Polydipsia, Polyuria, Stage 5 chronic kidney disease, Renal cyst, Micropenis |
OMIM:615994 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impa... |
OMIM:153670 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Myoglobinuria, Red-brown urine |
ORPHA:228305 |
| Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding time, Impaired platelet aggregation |
OMIM:614076 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T... |
ORPHA:228308 |
| Apparent Mineralocorticoid Excess |
|
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:218030 |
| X-Linked Intellectual Disability, Schimke Type |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:85285 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:289548 |
| Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
| Orofaciodigital Syndrome Xv |
|
Hydronephrosis |
OMIM:617127 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Eleva... |
ORPHA:168558 |
| Acute Adrenal Insufficiency |
|
Hyponatremia, Renal insufficiency, Decreased circulating cortisol level, Hypercalcemia, Adrenal h... |
ORPHA:95409 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Hydronephrosis |
OMIM:618240 |
| Dystonia-Aphonia Syndrome |
|
Abnormal urinary odor, Dysphagia |
ORPHA:412217 |
| Hereditary Chronic Pancreatitis |
|
Abnormal circulating enzyme concentration or activity, Elevated circulating C-reactive protein co... |
ORPHA:676 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Male hypogonadism, Micropenis, Decreased circulating renin ... |
ORPHA:90793 |
| Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature pubarche, Premature thelarche, Renal salt wasting... |
ORPHA:90795 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Short stature, Eczema, Postnatal growth retardation, Celiac disease, Increased circulating IgE le... |
OMIM:618985 |
| Bartter Syndrome Type 4 |
|
Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili... |
ORPHA:89938 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Impaired platelet aggregation, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:300835 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Polyuria, Hypercalcemia,... |
OMIM:601678 |
| Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Hydronephrosis |
OMIM:598500 |
| Addison Disease |
|
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Adrenal calcification, Ad... |
ORPHA:85138 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla... |
OMIM:619902 |
| Gitelman Syndrome |
|
Polyuria, Renal magnesium wasting, Hypomagnesemia, Enuresis, Hypokalemia, Hypocalciuria, Increase... |
OMIM:263800 |
| 6P22 Microdeletion Syndrome |
|
Hydronephrosis |
ORPHA:251046 |
| Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:618161 |
| Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst |
OMIM:613390 |
| Hermansky-Pudlak Syndrome 5 |
|
Prolonged bleeding time, Absent platelet dense granules, Impaired ADP-induced platelet aggregatio... |
OMIM:614074 |
| Familial Hyperaldosteronism Type Iii |
|
Polydipsia, Hypercalciuria |
ORPHA:251274 |
| Hyperparathyroidism, Neonatal Severe |
|
Hyperphosphaturia, Polyuria, Hypercalciuria, Aminoaciduria, Polydipsia |
OMIM:239200 |
| Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldoste... |
ORPHA:231580 |
| Joubert Syndrome 15 |
|
Micropenis, Nephronophthisis |
OMIM:614464 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of t... |
ORPHA:231625 |
| Juvenile Nephropathic Cystinosis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... |
ORPHA:411634 |
| Hereditary Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:30925 |
| Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi... |
ORPHA:105 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, H... |
ORPHA:93111 |
| Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
| Ectopic Aldosterone-Producing Tumor |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Adrenocortical adenoma, Decre... |
ORPHA:231632 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia |
OMIM:603585 |
| Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... |
OMIM:243910 |
| Jeune Syndrome |
|
Nephropathy, Renal insufficiency, Nephronophthisis |
ORPHA:474 |
| Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal corticomedullary ... |
OMIM:613159 |
| Gaisböck Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Nephrocalcinosis, Hypernatriuria, Hyperproteinemia, Incr... |
ORPHA:90041 |
| Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Aminoacidur... |
ORPHA:411629 |
| Mirizzi Syndrome |
|
Dark urine, Anorexia |
ORPHA:521219 |
| Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma |
ORPHA:538 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Increased urina... |
OMIM:241200 |
| Von Willebrand Disease, Type 1 |
|
Prolonged bleeding time, Impaired platelet aggregation |
OMIM:193400 |
| Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
| Prune Belly Syndrome |
|
Hydroureter, Congenital posterior urethral valve, Hydronephrosis |
OMIM:100100 |
| 22Q11.2 Duplication Syndrome |
|
Urethral stenosis, Compulsive behaviors, Attention deficit hyperactivity disorder, Displacement o... |
ORPHA:1727 |
| Distal Duplication 6P |
|
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia |
ORPHA:1745 |
| Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:616629 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis |
OMIM:619362 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Congenital adrenal hyperplasia, Long penis, Decreased circulating aldosterone level, Adrenogenita... |
OMIM:202010 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hydronephrosis |
OMIM:619797 |
| Tetraploidy |
|
Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:3305 |
| Endove Syndrome, Limb-Brain Type |
|
Recurrent urinary tract infections, Neurogenic bladder, Hydronephrosis |
OMIM:619218 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Polydipsia, Nephrolithiasis |
ORPHA:369929 |
| Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
| Hermansky-Pudlak Syndrome 6 |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Abnormal platelet granules |
OMIM:614075 |
| Desmoid Tumor |
|
Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:873 |
| Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Abnormal ci... |
OMIM:226990 |
| Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Primary hyperaldosteronism, Hypokalemia, Nephrolithiasis, Decreased circulating renin level |
OMIM:615474 |
| Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis |
OMIM:610205 |
| Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, ... |
OMIM:613027 |
| Williams-Beuren Region Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Hydronephrosis, Unilateral renal agenesis |
OMIM:609757 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Polydipsia, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Ne... |
ORPHA:99880 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
| Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt... |
ORPHA:167 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis |
OMIM:613735 |
| Parathyroid Carcinoma |
|
Renal insufficiency, Polydipsia, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Ne... |
ORPHA:143 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Renal dysplasia, Abnormal renal corticomedullary differentiation |
OMIM:616733 |
| Wolfram Syndrome 1 |
|
Neurogenic bladder, Hydroureter, Hydronephrosis, Dysphagia |
OMIM:222300 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:618265 |
| Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:619217 |
| Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn... |
OMIM:616307 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
| Cystinosis, Nephropathic |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Oral-pharyngeal dysphagia, Stage 5... |
OMIM:219800 |
| Lethal Congenital Contracture Syndrome 2 |
|
Hydronephrosis |
OMIM:607598 |
| Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... |
ORPHA:274 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Hydronephrosis, Renal hypoplasia, Unilateral renal agenesis, Dysphagia |
OMIM:618494 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Renal dysplasia, Urinary bladder inflammation, Hematuria, Aplasia of the blad... |
ORPHA:79403 |
| Familial Cold Urticaria |
|
Polydipsia |
ORPHA:47045 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis |
OMIM:617661 |
| Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia |
OMIM:620374 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Anorexia, Renovascular hypertension, Renal tubular epithelial necro... |
ORPHA:49041 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Impaired platelet aggregation |
OMIM:618372 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Elevated circulating aspartate aminotransferase concentration, Postnatal growth retardation, Conj... |
OMIM:617093 |
| Aapoaiv Amyloidosis |
|
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Chronic kidn... |
ORPHA:439232 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Megacystis, Hydronephrosis |
OMIM:619431 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Hydronephrosis |
OMIM:618060 |
| Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Urethral obstruction, Renal dysplasia, Renal hypoplasia, Hypertrophy of the urinary bladder |
OMIM:601389 |
| Hermansky-Pudlak Syndrome 11 |
|
Reduced platelet dense granules, Impaired collagen-induced platelet aggregation |
OMIM:619172 |
| Leprechaunism |
|
Long penis, Hyperinsulinemia, Hypercalciuria, Central hypothyroidism, Nephrocalcinosis, Hypokalem... |
ORPHA:508 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria, Renal hypoplasia |
OMIM:604273 |
| Joubert Syndrome 6 |
|
Abnormal repetitive mannerisms, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:610688 |
| Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level |
OMIM:604928 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Hyperparathyroidism, Postnatal growth retardation, Elevated circulating creatinine concentration,... |
OMIM:620366 |
| Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia |
OMIM:600151 |
| Toluene Embryopathy |
|
Hydronephrosis, Abnormal localization of kidney |
ORPHA:1920 |
| Netherton Syndrome |
|
Aminoaciduria, Hydronephrosis, Ectopic kidney |
ORPHA:634 |
| Recombinant Chromosome 8 Syndrome |
|
Hydronephrosis |
OMIM:179613 |
| Tetrasomy 15Q26 |
|
Hydronephrosis, Horseshoe kidney |
OMIM:614846 |
| Porphyria, Congenital Erythropoietic |
|
Red urine, Pink urine |
OMIM:263700 |
| Hepatoerythropoietic Porphyria |
|
Red urine, Red-brown urine, Purple urine |
ORPHA:95159 |
| Diabetic Embryopathy |
|
Ureteral duplication, Micropenis, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:1926 |
| Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
| Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Polydipsia |
ORPHA:3157 |
| Isolated Biliary Atresia |
|
Dark yellow urine |
ORPHA:30391 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Hydronephrosis |
OMIM:300048 |
| Hennekam-Beemer Syndrome |
|
Mastocytosis |
ORPHA:2135 |
| Joubert Syndrome 37 |
|
Micropenis, Hydronephrosis |
OMIM:619185 |
| Kury-Isidor Syndrome |
|
Hydronephrosis, Attention deficit hyperactivity disorder |
OMIM:619762 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Mild postnatal growth retardation, Reduced level... |
OMIM:224120 |
| Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
| Joubert Syndrome 3 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:608629 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... |
ORPHA:811 |
| Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... |
ORPHA:1834 |
| Erdheim-Chester Disease |
|
Hydronephrosis, Renal insufficiency, Polydipsia, Dysuria |
ORPHA:35687 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Micropenis, Self-mutilation, Hydronephrosis, Aggressive behavior |
ORPHA:364028 |
| Webb-Dattani Syndrome |
|
Vesicoureteral reflux, Neurogenic bladder, Hyposthenuria, Hydronephrosis |
OMIM:615926 |
| Renal Hypoplasia, Bilateral |
|
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... |
ORPHA:97362 |
| Rhyns Syndrome |
|
Renal insufficiency, Chronic kidney disease, Nephronophthisis |
OMIM:602152 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Dysphagia, Hydronephrosis |
OMIM:617913 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Hydronephrosis |
ORPHA:2083 |
| Renal And Mullerian Duct Hypoplasia |
|
Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney |
OMIM:266810 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Ketonuria, Renal hypoplasia |
OMIM:619053 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Nephronophthisis |
OMIM:615630 |
| Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Hydronephrosis |
OMIM:220210 |
| Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Aggressive behavior, Self-mutilation, Rena... |
ORPHA:261494 |
| Panhypophysitis |
|
Polydipsia, Hyposthenuria |
ORPHA:95513 |
| Necrobiosis Lipoidica |
|
Granuloma, Abnormality of neutrophil physiology |
ORPHA:542592 |
| Trisomy 13 |
|
Displacement of the urethral meatus, Abnormality of the ureter, Multiple renal cysts, Hydronephrosis |
ORPHA:3378 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Absence of renal corticomedullary differentiation, Multiple small medullary ... |
OMIM:263200 |
| Wolfram Syndrome |
|
Recurrent urinary tract infections, Dysuria, Abnormality of the urinary system, Nephropathy, Poly... |
ORPHA:3463 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Postnatal growth retardation, Splenomegaly, Jaundice, Abnormal... |
ORPHA:288 |
| Toxic Epidermal Necrolysis |
|
Renal insufficiency, Dysuria, Abnormality of the urethra, Dysphagia, Polydipsia |
ORPHA:537 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Postnatal growth retardation, Decreased circulating antibody level, Leukopen... |
OMIM:615190 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Partial absence ... |
OMIM:618986 |
| Suleiman-El-Hattab Syndrome |
|
Hydronephrosis |
OMIM:618950 |
| Visceral Myopathy 1 |
|
Megacystis, Urinary retention, Dysphagia, Vesicoureteral reflux, Hydronephrosis |
OMIM:155310 |
| Familial Hyperaldosteronism Type I |
|
Polydipsia |
ORPHA:403 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Abnormality of the urethra, Aplasia of the bladder, Abnormality of the urinary s... |
ORPHA:158684 |
| Coach Syndrome 1 |
|
Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ... |
OMIM:216360 |
| 9Q21.13 Microdeletion Syndrome |
|
Hydronephrosis |
ORPHA:531151 |
| Distal Triplication 15Q |
|
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Polycystic kidney dy... |
ORPHA:314588 |
| Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis |
ORPHA:261290 |
| Sitosterolemia 1 |
|
Giant platelets, Impaired platelet aggregation, Thrombocytopenia |
OMIM:210250 |
| Congenital Erythropoietic Porphyria |
|
Increased urinary porphobilinogen, Red-brown urine, Purple urine, Porphyrinuria |
ORPHA:79277 |
| Pediatric-Onset Graves Disease |
|
Hyperactivity, Polydipsia, Polyphagia |
ORPHA:525731 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Attention deficit hyperactivity di... |
OMIM:617914 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Hydronephrosis, Stereotypical hand wringing |
OMIM:619179 |
| Gitelman Syndrome |
|
Salt craving, Proteinuria, Urinary incontinence, Decreased urinary potassium, Tubulointerstitial ... |
ORPHA:358 |
| Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Hydronephrosis |
ORPHA:488613 |
| Vacterl/Vater Association |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... |
ORPHA:887 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Micropenis, Hypospadias, Hydronephrosis |
OMIM:616897 |
| Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Self-injurious behavior, Hydronephrosis |
ORPHA:568 |
| Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... |
OMIM:614527 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Pol... |
OMIM:608836 |
| Joubert Syndrome 5 |
|
Aggressive behavior, Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal ... |
OMIM:610188 |
| Koolen-De Vries Syndrome |
|
Ureteral duplication, Overfriendliness, Hypospadias, Vesicoureteral reflux, Hydronephrosis, Renal... |
ORPHA:96169 |
| Czeizel-Losonci Syndrome |
|
Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hydronephrosis |
ORPHA:2437 |
| Autoerythrocyte Sensitization Syndrome |
|
Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocytopenia |
ORPHA:324636 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Oliguria... |
ORPHA:731 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Abnormal medullary pyramid morphology |
ORPHA:79243 |
| Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
ORPHA:2496 |
| Igg4-Related Aortitis |
|
Hydronephrosis |
ORPHA:449400 |
| Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... |
ORPHA:49 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Hypospadias, Vesicoureteral reflux, Micropenis, Hydronephrosis |
OMIM:301056 |
| Zaki Syndrome |
|
Renal agenesis, Hydronephrosis |
OMIM:619648 |
| Hermansky-Pudlak Syndrome 2 |
|
Prolonged bleeding time, Absent platelet dense granules, Reduced natural killer cell activity, Im... |
OMIM:608233 |
| Odontochondrodysplasia 1 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
| Trisomy 1Q |
|
Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis |
ORPHA:261344 |
| Huntington Disease |
|
Aggressive behavior, Oral-pharyngeal dysphagia, Addictive alcohol use, Agitation, Compulsive beha... |
ORPHA:399 |
| Rabson-Mendenhall Syndrome |
|
Nephrocalcinosis, Polydipsia, Long penis |
ORPHA:769 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... |
OMIM:600740 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Micropenis, Hydronephrosis, Attention deficit hyperactivity disorder |
OMIM:612513 |
| 46,Xy Sex Reversal 4 |
|
Renal dysplasia, Ureteropelvic junction obstruction, Hydronephrosis |
OMIM:154230 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Renal tubular atrophy, Reduced renal cor... |
OMIM:208085 |
| Intellectual Disability, Buenos-Aires Type |
|
Hydronephrosis |
ORPHA:3079 |
| Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis |
ORPHA:1297 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Polycystic kidney dysplasia, Ves... |
ORPHA:2237 |
| Duane-Radial Ray Syndrome |
|
Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro... |
OMIM:607323 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... |
OMIM:617641 |
| Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Hydronephrosis |
OMIM:620327 |
| Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Renal hypoplasia, Renal cyst, Dysphagia, Vesicoureteral reflux, Hydronephrosis |
OMIM:618460 |
| Melnick-Needles Syndrome |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:2484 |
| Hermansky-Pudlak Syndrome 8 |
|
Impaired platelet aggregation |
OMIM:614077 |
| Microcephaly 29, Primary, Autosomal Recessive |
|
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys, Hyperactivity |
OMIM:620047 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Impulsivity, Abnormality of the urinary system, Attention deficit hyperactivity disorder, Micrope... |
ORPHA:96092 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Hemolytic-uremic syndrome, Renal insufficiency, Hypospadias, Hydronephrosis |
OMIM:611209 |
| Micro Syndrome |
|
Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney |
ORPHA:2510 |
| Noonan Syndrome 4 |
|
Ureteral duplication, Hydronephrosis |
OMIM:610733 |
| Brain-Lung-Thyroid Syndrome |
|
Hyperactivity, Hypospadias, Abnormal eating behavior, Megacystis, Abnormal drinking behavior, Com... |
ORPHA:209905 |
| Whipple Disease |
|
Polydipsia, Anorexia |
ORPHA:3452 |
| Igg4-Related Kidney Disease |
|
Renal insufficiency, Proteinuria, Urinary bladder inflammation, Renal interstitial immunoglobulin... |
ORPHA:449395 |
| Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral... |
ORPHA:391641 |
| Autosomal Recessive Spastic Paraplegia Type 20 |
|
Hydronephrosis, Dysuria, Dysphagia |
ORPHA:101000 |
| Mungan Syndrome |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:611376 |
| 3C Syndrome |
|
Hypoplasia of penis, Hypospadias, Hydronephrosis |
ORPHA:7 |
| Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Hypospadias, Hydronephrosis |
ORPHA:2315 |
| Al-Gazali Syndrome |
|
Hydronephrosis |
OMIM:609465 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypouricemia, Elevated circulating aspartate aminotransferase concentration, Malabs... |
OMIM:227810 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Albuminuria, Aminoaciduria, Dysphagia, Renal cortical microcysts, Hydronephrosis |
OMIM:214100 |
| Zellweger Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Hydronephrosis |
ORPHA:912 |
| Microphthalmia, Syndromic 9 |
|
Renal malrotation, Renal hypoplasia, Horseshoe kidney, Pelvic kidney, Hydronephrosis |
OMIM:601186 |
| Pfeiffer Syndrome Type 3 |
|
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney |
ORPHA:93260 |
| Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... |
ORPHA:261318 |
| Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Glandular hypospadias... |
ORPHA:2473 |
| Mgat2-Cdg |
|
Decreased circulating IgG level, Impaired platelet aggregation, Decreased circulating antibody level |
ORPHA:79329 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Hydronephrosis |
ORPHA:457193 |
| 2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis, Attention deficit hyperactivity disorder, Dysphagia |
ORPHA:261349 |
| Marchiafava-Bignami Disease |
|
Addictive alcohol use, Urinary incontinence, Aggressive behavior |
ORPHA:221074 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hyperactivity, Ectopic kidney, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis |
OMIM:235510 |
| Congenital Myopathy 17 |
|
Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia |
OMIM:618975 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Vesicoureteral... |
OMIM:614080 |
| Encephalocraniocutaneous Lipomatosis |
|
Pelvic kidney, Hydronephrosis |
OMIM:613001 |
| Vacterl Association With Hydrocephalus |
|
Renal hypoplasia |
OMIM:276950 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Ureteral triplication, Hydronephrosis |
OMIM:104350 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Hydronephrosis |
OMIM:616449 |
| Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th... |
OMIM:137920 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Hydronephrosis |
ORPHA:541423 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Renal hypoplasia, Renal cyst, Microphallus, Compulsive behaviors, Vesicoureteral reflux, Hydronep... |
OMIM:618454 |
| Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Thrombocytopenia, Abnormal platelet function, Abnormal platelet morphology |
ORPHA:906 |
| Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Reduced renal corticomedullary differentiation |
OMIM:618541 |
| Pallister-Hall Syndrome |
|
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena... |
OMIM:146510 |
| 7Q11.23 Microduplication Syndrome |
|
Collectionism, Hyperactivity, Hypospadias, Unilateral renal agenesis, Aggressive behavior, Polyph... |
ORPHA:96121 |
| Koolen-De Vries Syndrome |
|
Recurrent urinary tract infections, Hyperactivity, Impulsivity, Vesicoureteral reflux, Hydronephr... |
OMIM:610443 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Hypoplasia of penis, Abnormality of the kidney, Self-injuriou... |
ORPHA:847 |
| Carey-Fineman-Ziter Syndrome |
|
Hydronephrosis, Glandular hypospadias |
ORPHA:1358 |
| Baller-Gerold Syndrome |
|
Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney |
ORPHA:1225 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative... |
OMIM:618935 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Nephrolithiasis, Functional abnormality of the bladder, Hydronephrosis, Horseshoe kidney |
ORPHA:2953 |
| Carpenter Syndrome 1 |
|
Hydroureter, Hydronephrosis |
OMIM:201000 |
| Mosaic Trisomy 9 |
|
Hypoplasia of penis, Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Renal dysplasia |
ORPHA:99776 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Unilateral renal agenesis, Renal cyst, Attention deficit hyperactivity disorder, Mic... |
ORPHA:464311 |
| Tarp Syndrome |
|
Hydronephrosis, Horseshoe kidney |
OMIM:311900 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Renal agenesis, Hypospadias, Micropenis, Abnormal repetitive mannerisms, Hydronephrosis |
OMIM:301040 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Renal insufficiency, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, ... |
OMIM:619534 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Hydronephrosis |
ORPHA:35173 |
| Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:85201 |
| Stromme Syndrome |
|
Bilateral renal hypoplasia, Hydronephrosis |
OMIM:243605 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Vesicoureteral reflux, Crossed fused renal ectopia, Pelvi... |
OMIM:300707 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary null cell adenoma, Hypercalcemia, Pituitary corticotropic cell ade... |
ORPHA:276152 |
| Cat Eye Syndrome |
|
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Horseshoe kidney |
OMIM:115470 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Micropenis, Hydronephrosis |
OMIM:617798 |
| Takenouchi-Kosaki Syndrome |
|
Hypospadias, Hydronephrosis, Unilateral renal agenesis |
OMIM:616737 |
| 1Q21.1 Microdeletion Syndrome |
|
Vesicoureteral reflux, Hydronephrosis, Attention deficit hyperactivity disorder |
ORPHA:250989 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Moderate albuminuria, Hydronephrosis |
OMIM:619269 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Vesicoureteral reflux, Micropenis, Pelvic kidney, Abnormal repetitive mannerisms, Hydronephrosis |
OMIM:618653 |
| 15Q Overgrowth Syndrome |
|
Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Nephroblastoma, Hydronephrosis |
ORPHA:314585 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Micropenis, Hydronephrosis |
OMIM:235255 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni... |
OMIM:214500 |
| Fryns Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis |
ORPHA:2059 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Hydroureter, Recu... |
ORPHA:79404 |
| Pelvis-Shoulder Dysplasia |
|
Hydronephrosis |
ORPHA:2839 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... |
OMIM:201750 |
| 15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... |
DECIPHER:81 |
| Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Neurogenic bladder, Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, D... |
OMIM:616973 |
| Gabriele-De Vries Syndrome |
|
Ureteropelvic junction obstruction, Hydronephrosis, Attention deficit hyperactivity disorder |
OMIM:617557 |
| Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia |
OMIM:236700 |
| Pseudohypoparathyroidism Type 1A |
|
Abnormal platelet function |
ORPHA:79443 |
| Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Ureteral duplication, Aggressive behavior, Duplication of renal pelvis, Inappropriate laughter, S... |
ORPHA:457212 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Male urethral meatus stenosis, Hydronephrosis, Hypospadias, Aggressive behavior |
ORPHA:464738 |
| Pseudo-Torch Syndrome 2 |
|
Abnormal renal corticomedullary differentiation |
OMIM:617397 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Abn... |
ORPHA:464306 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Micropenis, Abnormal renal morphology, Hydronephrosis |
ORPHA:1655 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Aggressive behavior, Enuresis, Self-injurious behavior, Compulsive behaviors, Polydipsia, Polyphagia |
ORPHA:293987 |
| Mosaic Trisomy 8 |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:96061 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Hydronephrosis |
ORPHA:247262 |
| Matthew-Wood Syndrome |
|
Vesicoureteral reflux, Renal hypoplasia, Horseshoe kidney |
ORPHA:2470 |
| Noonan Syndrome |
|
Abnormal platelet function |
ORPHA:648 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Renal hypoplasia, Absence of renal corticomedullary differentiation |
OMIM:619758 |
| Floating-Harbor Syndrome |
|
Restlessness, Hypospadias, Renal agenesis, Impulsivity, Aggressive behavior, Dilatation of the re... |
ORPHA:2044 |
| Thakker-Donnai Syndrome |
|
Hydronephrosis |
ORPHA:1780 |
| Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Hydronephrosis, Horseshoe kidney |
OMIM:272950 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Neurogenic bladder, Hydronephrosis |
OMIM:608779 |
| Isolated Osteopoikilosis |
|
Addictive alcohol use, Abnormality of the kidney |
ORPHA:166119 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Vesicoureteral reflux, Abnormal bladder morphology, Hydronephrosis, Bruxism |
ORPHA:453499 |
| Joubert Syndrome 2 |
|
Renal insufficiency, Renal cyst, Nephronophthisis |
OMIM:608091 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Renal dysplasia, Hydronephrosis |
OMIM:300968 |
| Acute Promyelocytic Leukemia |
|
Hematuria, Addictive alcohol use, Anorexia |
ORPHA:520 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Hydronephrosis |
OMIM:302960 |
| Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic... |
OMIM:258040 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:2995 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia |
ORPHA:91351 |
| Distal Deletion 12Q |
|
Hyperactivity, Ectopic kidney, Self-mutilation, Polycystic kidney dysplasia, Vesicoureteral reflu... |
ORPHA:96149 |
| Au-Kline Syndrome |
|
Chronic kidney disease, Dilatation of the renal pelvis, Attention deficit hyperactivity disorder,... |
OMIM:616580 |
| Holoprosencephaly 3 |
|
Hydronephrosis |
OMIM:142945 |
| White-Kernohan Syndrome |
|
Attention deficit hyperactivity disorder, Hydroureter, Hydronephrosis, Horseshoe kidney |
OMIM:619426 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hydroureter, Hypertrophy of the urinary bladder, Unilateral renal dysplasia, Congenital megaurete... |
ORPHA:280633 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Hydronephrosis |
ORPHA:254528 |
| Cardiofaciocutaneous Syndrome 1 |
|
Tongue thrusting, Hydronephrosis |
OMIM:115150 |
| Campomelic Dysplasia |
|
Hydronephrosis |
ORPHA:140 |
| Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... |
ORPHA:2322 |
| Monosomy 22Q13.3 |
|
Hyperactivity, Hair-pulling, Hydronephrosis, Bruxism, Vesicoureteral reflux, Recurrent pyelonephr... |
ORPHA:48652 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hydronephrosis |
OMIM:614921 |
| Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Hydronephrosis, Horseshoe kidney, Renal hypoplasia/aplasia |
ORPHA:2092 |
| Cockayne Syndrome Type 3 |
|
Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Renal hypoplasia... |
ORPHA:90324 |
| Congenital Alveolar Capillary Dysplasia |
|
Hydronephrosis |
ORPHA:210122 |
| Frontometaphyseal Dysplasia 1 |
|
Hydroureter, Hydronephrosis |
OMIM:305620 |
| Cranioectodermal Dysplasia 3 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:614099 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Hydronephrosis |
OMIM:271520 |
| Porphyria Cutanea Tarda |
|
Increased urinary porphobilinogen, Addictive alcohol use, Stage 5 chronic kidney disease, Porphyr... |
ORPHA:101330 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me... |
OMIM:604292 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent urinary tract infections, Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior,... |
ORPHA:353281 |
| Opitz Gbbb Syndrome |
|
Hypospadias, Abnormality of the urinary system, Dysphagia, Vesicoureteral reflux, Hydronephrosis |
ORPHA:2745 |
| Otopalatodigital Syndrome Type 2 |
|
Hydronephrosis, Hypospadias, Ureteral obstruction |
ORPHA:90652 |
| Nijmegen Breakage Syndrome |
|
Hyperactivity, Recurrent urinary tract infections, Hydronephrosis |
OMIM:251260 |
| Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Hematuria, Hydronephrosis |
ORPHA:900 |
| Ethylene Glycol Poisoning |
|
Renal insufficiency, Renal tubular epithelial necrosis, Renal tubular dysfunction, Hematuria, Add... |
ORPHA:31826 |
| Cerebellar-Facial-Dental Syndrome |
|
Ureteropelvic junction obstruction, Hydronephrosis |
ORPHA:444072 |
| Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Duplicated collecting system, Hyperactivity, Hypospadias, Ren... |
OMIM:270400 |
| Alg9-Cdg |
|
Hypoplasia of the bladder, Ureteral hypoplasia, Abnormal renal artery morphology, Hydronephrosis,... |
ORPHA:79328 |
| Eec Syndrome |
|
Hypospadias, Renal hypoplasia/aplasia, Urethral atresia, Vesicoureteral reflux, Hydronephrosis |
ORPHA:1896 |
| Raine Syndrome |
|
Hydroureter, Hydronephrosis |
OMIM:259775 |
| Dubowitz Syndrome |
|
Hypospadias, Hydronephrosis, Attention deficit hyperactivity disorder |
ORPHA:235 |
| Exstrophy-Epispadias Complex |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the k... |
ORPHA:322 |
| Cardiofaciocutaneous Syndrome |
|
Hydronephrosis |
ORPHA:1340 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Grade III vesicoureteral r... |
OMIM:619522 |
| Cousin Syndrome |
|
Hydronephrosis |
OMIM:260660 |
| Craniofacioskeletal Syndrome |
|
Hypospadias, Hydronephrosis |
OMIM:300712 |
| Tarp Syndrome |
|
Hydronephrosis, Horseshoe kidney |
ORPHA:2886 |
| Trisomy 18 |
|
Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:3380 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Abnorma... |
ORPHA:818 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Nephrolithiasis, Nephrocalcinosis, Micropenis, Hydronephrosis, Renal duplication |
OMIM:268310 |
| Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hydronephrosis |
ORPHA:2750 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Nephrolithiasis, Proximal renal tubular acidosis, Renal tubular acidosis, Distal renal tubular ac... |
ORPHA:2785 |
| Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, Vesicoureteral reflux, Renal... |
OMIM:122470 |
| Vater/Vacterl Association |
|
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent urachus, Vesicoureteral refl... |
OMIM:192350 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Overfriendliness, Recurrent urinary tract infections, Hypospadias, Fetal pyelectasis, Inappropria... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Overfriendliness, Recurrent urinary tract infections, Hypospadias, Fetal pyelectasis, Inappropria... |
ORPHA:363958 |
| Trisomy 8P |
|
Nephrocalcinosis, Micropenis, Fetal pyelectasis, Hydronephrosis |
ORPHA:264450 |
| Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts |
OMIM:618733 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... |
OMIM:620330 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Hydronephrosis, Unilateral renal agenesis |
OMIM:308050 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Bladder diverticulum,... |
OMIM:129900 |
| Degcags Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Bilateral renal dysplasia, Oral-pharyngeal dysph... |
OMIM:619488 |
| Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Renal cyst, Renal cell carcinoma, Attention de... |
OMIM:613254 |
| Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Short sta... |
ORPHA:2968 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent urinary tract infections, Hydronephrosis, Urachus fistula |
OMIM:612541 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Duplicated collecting system, Violent behavior, Ureteropelvic junction obstruction, Hydronephrosis |
OMIM:280000 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Micropenis, Hypospadias, Hydronephrosis |
ORPHA:163979 |
| Apert Syndrome |
|
Hydronephrosis |
OMIM:101200 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Hydronephrosis, Multiple bladder diverticula |
OMIM:613177 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Ureteral stenosis, Hypospadias, Hydroureter, Micropenis, Hydronephrosis |
OMIM:269150 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Hydronephrosis, Unilateral renal agenesis |
ORPHA:487796 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Reduced renal... |
OMIM:266920 |
| Schinzel-Giedion Syndrome |
|
Hypospadias, Nephroblastoma, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Dysphagia, M... |
ORPHA:798 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Vesicoureteral reflux, Hydronephrosis, Bruxism |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Vesicoureteral reflux, Hydronephrosis, Bruxism |
ORPHA:352665 |
| Split Cord Malformation |
|
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... |
ORPHA:573278 |
| 3Mc Syndrome 1 |
|
Hydronephrosis |
OMIM:257920 |
| Methanol Poisoning |
|
Addictive alcohol use |
ORPHA:31825 |
| Occipital Horn Syndrome |
|
Hydronephrosis, Bladder diverticulum, Ureteral obstruction |
OMIM:304150 |
| Ileal Neuroendocrine Tumor |
|
Hydronephrosis |
ORPHA:100078 |
| Fryns Syndrome |
|
Ureteral duplication, Renal agenesis, Hypospadias, Renal cyst, Hydronephrosis |
OMIM:229850 |
| Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis, Attention deficit hyperactivity disorder |
ORPHA:2308 |
| Hardikar Syndrome |
|
Hypoplasia of the bladder, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, ... |
OMIM:301068 |
| Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... |
ORPHA:373 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Polyphagia, Renal cyst, Self-injurio... |
ORPHA:1606 |
| Frontometaphyseal Dysplasia |
|
Hydronephrosis, Urethral stenosis, Ureteral obstruction |
ORPHA:1826 |
| Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:1507 |
| Chime Syndrome |
|
Hydronephrosis, Abnormality of the kidney |
ORPHA:3474 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess |
OMIM:233710 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent urinary tract infections, Hyperactivity, Hypospadias, Abnormality of the kidney, Impuls... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent urinary tract infections, Hyperactivity, Hypospadias, Abnormality of the kidney, Impuls... |
ORPHA:353277 |
| Secondary Non-Traumatic Avascular Necrosis |
|
Addictive alcohol use |
ORPHA:399180 |
| Knobloch Syndrome 1 |
|
Duplicated collecting system, Bifid ureter, Hydronephrosis, Renal duplication |
OMIM:267750 |
| Tetrasomy 9P |
|
Renal dysplasia, Recurrent urinary tract infections, Hyperactivity, Horseshoe kidney, Inappropria... |
ORPHA:3310 |
| Melnick-Needles Syndrome |
|
Ureteral stenosis, Hydronephrosis |
OMIM:309350 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess |
OMIM:233690 |
| Arboleda-Tham Syndrome |
|
Recurrent urinary tract infections, Abnormal repetitive mannerisms, Hydronephrosis, Dysphagia |
OMIM:616268 |
| Floating-Harbor Syndrome |
|
Hypospadias, Aggressive behavior, Glandular hypospadias, Nephrocalcinosis, Congenital posterior u... |
OMIM:136140 |
| Robinow Syndrome |
|
Webbed penis, Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:97360 |
| Gabriele-De Vries Syndrome |
|
Ureteropelvic junction obstruction, Hydronephrosis, Attention deficit hyperactivity disorder, Ora... |
ORPHA:506358 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:615287 |
| Cardiac Valvular Dysplasia 1 |
|
Urethral diverticulum, Hydroureter, Hydronephrosis |
OMIM:212093 |
| Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
OMIM:600383 |
| Charge Syndrome |
|
Horseshoe kidney, Attention deficit hyperactivity disorder, Compulsive behaviors, Vesicoureteral ... |
ORPHA:138 |
| Lacrimoauriculodentodigital Syndrome |
|
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Dysphagia |
ORPHA:2363 |
| Coffin-Siris Syndrome 1 |
|
Hydroureter, Hypospadias, Ectopic kidney, Aggressive behavior, Renal hypoplasia, Compulsive behav... |
OMIM:135900 |
| Okamoto Syndrome |
|
Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Urinary incontinence, Hydronephr... |
ORPHA:2729 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Hypospadias, Dilatation of the renal pelvis, Dilatation of the bladder, Hydronephrosis |
OMIM:265380 |
| Rubinstein-Taybi Syndrome 1 |
|
Hyperactivity, Hypospadias, Impulsivity, Hydronephrosis, Self-mutilation |
OMIM:180849 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2636 |
| Acute Lung Injury |
|
Addictive alcohol use |
ORPHA:178320 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Nephrotic syndrome, Hydronephrosis |
OMIM:601776 |
| Alagille Syndrome 1 |
|
Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas... |
OMIM:118450 |
| Granulomatous Disease, Chronic, X-Linked |
|
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Granuloma, Rectal abscess |
OMIM:306400 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Abnormal renal morphology, Hydronephrosis, Attention deficit hyperactivity disorder, Renal hypopl... |
ORPHA:363700 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Nephrolithiasis, Dysphagia, Vesicoureteral reflux, Hydronephrosis, Stereotypical hand wringing |
ORPHA:438213 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis |
ORPHA:93271 |
| Campomelic Dysplasia |
|
Hypospadias, Hydronephrosis |
OMIM:114290 |
| Doors Syndrome |
|
Nephrocalcinosis, Abnormality of the urinary system, Hydronephrosis, Increased urine alpha-ketogl... |
ORPHA:79500 |
| Osteogenesis Imperfecta, Type Vii |
|
Hydronephrosis |
OMIM:610682 |
| Herpes Simplex Virus Encephalitis |
|
Addictive alcohol use |
ORPHA:1930 |
| Digeorge Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Attention deficit hyperactivity d... |
OMIM:188400 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Micropenis, Hydronephrosis |
ORPHA:83617 |
| Sotos Syndrome |
|
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... |
ORPHA:821 |
| Charge Syndrome |
|
Renal agenesis, Self-mutilation, Renal hypoplasia, Horseshoe kidney, Dysphagia, Micropenis, Hydro... |
OMIM:214800 |
| Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Hydron... |
ORPHA:709 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Micropenis, Hydronephrosis, Renal duplication |
OMIM:180700 |
| Liver Disease, Severe Congenital |
|
Recurrent urinary tract infections, Hypospadias, Aminoaciduria, Alpha-aminobutyric aciduria, Hype... |
OMIM:619991 |
| Genitopatellar Syndrome |
|
Micropenis, Multicystic kidney dysplasia, Hydronephrosis, Dysphagia |
OMIM:606170 |
| Staphylococcal Necrotizing Pneumonia |
|
Addictive alcohol use |
ORPHA:36238 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract, Abnormality of the kidney |
ORPHA:2273 |
| Kabuki Syndrome 1 |
|
Ureteropelvic junction obstruction, Micropenis, Crossed fused renal ectopia, Hydronephrosis |
OMIM:147920 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Addictive alcohol use |
ORPHA:90065 |
| Focal Dermal Hypoplasia |
|
Ureteral duplication, Bifid ureter, Hydronephrosis, Horseshoe kidney |
OMIM:305600 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hypospadias, Renal cyst, Duplication of renal pelvis, Nephroblastoma, Hydronephrosis, Enlarged ki... |
OMIM:312870 |
| Wiedemann-Rautenstrauch Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Wide penis, Vesicoureteral reflux, Dilatation of... |
ORPHA:3455 |
| Hydrolethalus Syndrome 1 |
|
Hypospadias, Hydronephrosis |
OMIM:236680 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Dysphagia, Chordee, Bruxism, Ves... |
ORPHA:261537 |
| Peters-Plus Syndrome |
|
Hydronephrosis, Ureteral duplication, Hypospadias, Renal hypoplasia |
OMIM:261540 |
| Mowat-Wilson Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Dysph... |
ORPHA:2152 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Dysphagia, Duplication of renal ... |
ORPHA:261552 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Renal dysplasia, Hydronephrosis |
ORPHA:480880 |
| Cirrhotic Cardiomyopathy |
|
Addictive alcohol use |
ORPHA:57777 |
| Otopalatodigital Syndrome, Type Ii |
|
Hypospadias, Hydronephrosis |
OMIM:304120 |
| Viss Syndrome |
|
Hydronephrosis, Dysphagia |
OMIM:619472 |
| Johanson-Blizzard Syndrome |
|
Micropenis, Hypospadias, Hydronephrosis, Urethrovaginal fistula |
OMIM:243800 |
