| Diamond-Blackfan Anemia 19 |
|
Anemia, Erythroid hypoplasia, Steroid-responsive anemia |
OMIM:618312 |
| Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
| Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
| Diamond-Blackfan Anemia 13 |
|
Normocytic anemia, Elevated red cell adenosine deaminase activity |
OMIM:615909 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
| Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reduced erythrocyte adenylate kinase activity |
OMIM:612631 |
| Heinz Body Anemias |
|
Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia |
OMIM:140700 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia |
OMIM:205950 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Hydronephrosis, Duplicated collecting system |
OMIM:163850 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production |
OMIM:153550 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio... |
OMIM:143400 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... |
OMIM:618270 |
| X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia |
ORPHA:2802 |
| Focal Segmental Glomerulosclerosis 7 |
|
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... |
OMIM:616002 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... |
ORPHA:2838 |
| Nephronophthisis |
|
Anemia |
ORPHA:655 |
| Humero-Radio-Ulnar Synostosis |
|
Abnormality of the ureter, Abnormality of the upper urinary tract |
ORPHA:3266 |
| Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
| Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
| Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
| 6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
| Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
| Glutathione Peroxidase Deficiency |
|
Compensated hemolytic anemia, Heinz bodies |
OMIM:614164 |
| Spastic Paraplegia And Evans Syndrome |
|
Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia |
OMIM:601608 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis |
OMIM:603529 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
| Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly |
OMIM:312500 |
| Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... |
ORPHA:617 |
| Hemoglobin H Disease |
|
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia |
OMIM:611283 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis |
OMIM:619398 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... |
OMIM:603902 |
| Ring Chromosome 8 Syndrome |
|
Hydronephrosis, Abnormality of the ureter |
ORPHA:1450 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Holzgreve Syndrome |
|
Renal hypoplasia, Renal agenesis |
OMIM:236110 |
| Renal Hypodysplasia/Aplasia 3 |
|
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... |
OMIM:617805 |
| 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 |
| Meier-Gorlin Syndrome 8 |
|
Unilateral renal hypoplasia, Nephroptosis, Decreased body weight |
OMIM:617564 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
| 46,Xx Testicular Difference Of Sex Development |
|
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Congenital Atransferrinemia |
|
Anemia |
ORPHA:1195 |
| Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic dyserythropoietic anemia, Macrocytic anemia |
OMIM:619789 |
| Lower Limb Malformation-Hypospadias Syndrome |
|
Abnormality of the ureter, Hypospadias |
ORPHA:2487 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia |
OMIM:206100 |
| 2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
| Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... |
OMIM:610805 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon... |
ORPHA:206484 |
| Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
| Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia |
OMIM:133180 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... |
OMIM:613092 |
| Eosinophilia, Familial |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
OMIM:131400 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Hydronephrosis, Abnormality of the urinary system |
ORPHA:2669 |
| Lessel-Kubisch Syndrome |
|
Renal hypoplasia, Renal insufficiency |
OMIM:618681 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia |
ORPHA:32 |
| Renal Hypoplasia |
|
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... |
ORPHA:93101 |
| Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Hypochromic microcytic anemia, Anemia of inadequate production, Macrocytic ... |
OMIM:300751 |
| Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
| Protoporphyria, Erythropoietic, 2 |
|
Iron deficiency anemia |
OMIM:618015 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity |
OMIM:618660 |
| Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Anemia |
OMIM:618313 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Ureteral agenesis, Neonatal death, Renal cyst, Stillbirth, Renal dysplasia |
OMIM:236500 |
| Macdermot-Winter Syndrome |
|
Hydronephrosis, Death in infancy |
OMIM:247990 |
| Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness |
|
Hydronephrosis, Hydroureter |
OMIM:264140 |
| Bardet-Biedl Syndrome 19 |
|
Hydronephrosis, Renal hypoplasia, Renal insufficiency, Obesity |
OMIM:615996 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
| Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
| Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
| 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 |
| Hydrops Fetalis, Nonimmune |
|
Anemia |
OMIM:236750 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia |
OMIM:243320 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly, Neonatal death |
OMIM:273680 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... |
ORPHA:1916 |
| Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis |
OMIM:230450 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Nephronophthisis 13 |
|
Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Glomerular subepithelial immu... |
OMIM:614377 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anemia, Thrombocytopenia, Neutropenia, Monocytosis |
OMIM:620534 |
| Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... |
ORPHA:983 |
| Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis |
OMIM:237800 |
| Urofacial Syndrome 1 |
|
Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v... |
OMIM:236730 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... |
ORPHA:766 |
| Bresek Syndrome |
|
Renal hypoplasia, Hypoplasia of the bladder, Vesicoureteral reflux, Neonatal death, Renal dysplasia |
ORPHA:85284 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia |
OMIM:608898 |
| Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia, Obesity |
OMIM:600151 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Renal hypoplasia, Failure to thrive, Death in childhood, 3-Methylglutaconic acidur... |
OMIM:604273 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia, Thrombocytopenia |
OMIM:616176 |
| Acute Erythroid Leukemia |
|
Erythroid hypoplasia, Pancytopenia, Anemia, Leukopenia |
ORPHA:318 |
| Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis |
OMIM:274265 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... |
ORPHA:2138 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy |
OMIM:601382 |
| Trimethylaminuria |
|
Anemia, Splenomegaly, Neutropenia |
OMIM:602079 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Death in childhood, Neonatal death... |
OMIM:614922 |
| Vesicoureteral Reflux 3 |
|
Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico... |
OMIM:613674 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Anemia, Macrothrombocytopenia |
OMIM:187800 |
| Pernicious Anemia |
|
Megaloblastic anemia |
OMIM:170900 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
| Bone Marrow Failure Syndrome 2 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:615715 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... |
OMIM:301083 |
| Fanconi Anemia, Complementation Group O |
|
Stage 5 chronic kidney disease, Death in infancy, Neonatal death, Hydronephrosis, Renal cyst, Mis... |
OMIM:613390 |
| Tetragametic Chimerism |
|
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... |
ORPHA:199310 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
| Urofacial Syndrome 2 |
|
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... |
OMIM:615112 |
| Vacterl Association With Hydrocephalus |
|
Renal hypoplasia, Stillbirth |
OMIM:276950 |
| Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydronephrosis, Hydroureter, Death in infancy |
OMIM:618240 |
| Renal Coloboma Syndrome |
|
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal... |
ORPHA:1475 |
| Hinman Syndrome |
|
Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E... |
ORPHA:84085 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Refractory Anemia |
|
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut... |
ORPHA:98826 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... |
OMIM:615631 |
| Diamond-Blackfan Anemia 12 |
|
Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ... |
OMIM:615550 |
| Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
ORPHA:517 |
| Congenital Megacalycosis |
|
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... |
ORPHA:93109 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia |
OMIM:617661 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
| Split-Hand/Foot Malformation 3 |
|
Renal hypoplasia |
OMIM:246560 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
| Orofaciodigital Syndrome Xvii |
|
Micropenis, Renal hypoplasia, Decreased body weight |
OMIM:617926 |
| Hadziselimovic Syndrome |
|
Renal hypoplasia, Failure to thrive |
OMIM:612946 |
| X-Linked Intellectual Disability, Schimke Type |
|
Hydronephrosis, Failure to thrive in infancy, Vesicoureteral reflux |
ORPHA:85285 |
| Pyropoikilocytosis, Hereditary |
|
Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis |
OMIM:266140 |
| Renal Dysplasia |
|
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... |
ORPHA:93108 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Renal hypoplasia, Renal agenesis, Obesity, Micropenis, Hypospadias |
ORPHA:171839 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Abnormality of the ureter, Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia |
ORPHA:1046 |
| Renal Hypoplasia, Bilateral |
|
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Failure... |
ORPHA:97362 |
| Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
| Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Urethral obstruction, Renal hypoplasia, Renal dysplasia, Urinary bladder wall hypertrophy |
OMIM:601389 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux, Failure to thrive |
OMIM:613735 |
| Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... |
OMIM:616648 |
| Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... |
OMIM:613496 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Decreased testicular size, Abnormality of the ovary |
ORPHA:1875 |
| Even-Plus Syndrome |
|
Renal hypoplasia, Vesicoureteral reflux, Recurrent urinary tract infections |
OMIM:616854 |
| Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
| Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Micropenis, Renal hypoplasia, Obesity |
OMIM:620439 |
| Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
| Fetal Parvovirus Syndrome |
|
Anemia, Thrombocytopenia |
ORPHA:295 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia |
OMIM:615285 |
| Atransferrinemia |
|
Hypochromic anemia |
OMIM:209300 |
| Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
| Fanconi Anemia, Complementation Group G |
|
Leukemia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:614082 |
| Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
| Joubert Syndrome 22 |
|
Renal hypoplasia |
OMIM:615665 |
| Cat-Eye Syndrome |
|
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:195 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Renal hypoplasia, Vesicoureteral reflux, Obesity |
ORPHA:464288 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydronephrosis, Neonatal death, Hydroureter, Fetal megacystis |
OMIM:619362 |
| Dohle Bodies And Leukemia |
|
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies |
OMIM:223350 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Ureteral agenesis, Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys |
OMIM:617914 |
| Distal Duplication 6P |
|
Hydronephrosis, Renal hypoplasia, Abnormality of the urinary system |
ORPHA:1745 |
| Alagille Syndrome 2 |
|
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria |
OMIM:610205 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, D... |
OMIM:174000 |
| Orthostatic Hypotension 2 |
|
Anemia |
OMIM:618182 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Unilateral renal agenesis, Bilateral renal agenesis, Death in infancy, Ureteral atresia |
OMIM:618845 |
| Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:185020 |
| Hepatic Adenomas, Familial |
|
Polycystic ovaries |
OMIM:142330 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Renal hypoplasia, Hypoplasia of penis |
ORPHA:2256 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Anemia of inadequate production, Reticulocytosis |
OMIM:224100 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis |
OMIM:617948 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620481 |
| Image Syndrome |
|
Hydronephrosis, Hypospadias |
ORPHA:85173 |
| Verheij Syndrome |
|
Renal cyst, Renal hypoplasia, Small for gestational age, Renal agenesis |
OMIM:615583 |
| Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Failure to thrive, Recurrent urinary tract infections,... |
ORPHA:2970 |
| Rh-Null, Amorph Type |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis |
OMIM:617970 |
| Ochoa Syndrome |
|
Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie... |
ORPHA:2704 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Oligomeganephronia |
|
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... |
ORPHA:2260 |
| Asplenia, Isolated Congenital |
|
Howell-Jolly bodies, Asplenia, Thrombocytosis |
OMIM:271400 |
| Wolfram Syndrome, Mitochondrial Form |
|
Hydronephrosis, Hydroureter |
OMIM:598500 |
| Formiminoglutamic Aciduria |
|
Anemia, Megaloblastic anemia |
ORPHA:51208 |
| Immunodeficiency 69 |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... |
OMIM:618963 |
| Renal And Mullerian Duct Hypoplasia |
|
Horseshoe kidney, Anteriorly displaced urethral meatus, Renal hypoplasia |
OMIM:266810 |
| Cenani-Lenz Syndactyly Syndrome |
|
Renal hypoplasia, Ectopic kidney, Renal agenesis |
OMIM:212780 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
| Meckel Syndrome 12 |
|
Renal hypoplasia, Ureteral hypoplasia, Bilateral renal agenesis |
OMIM:616258 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Renal hypoplasia, Small for gestational age |
OMIM:616817 |
| Fanconi Anemia, Complementation Group I |
|
Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Decreased body weight, Abnormal renal ... |
OMIM:609053 |
| Matthew-Wood Syndrome |
|
Horseshoe kidney, Renal hypoplasia, Vesicoureteral reflux, Failure to thrive |
ORPHA:2470 |
| Elliptocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Elliptocytosis |
OMIM:130600 |
| Silver-Russell Syndrome 1 |
|
Abnormality of the ureter, Nephroblastoma, Urethral valve, Hypospadias, Small for gestational age... |
OMIM:180860 |
| 8P23.1 Duplication Syndrome |
|
Hydronephrosis |
ORPHA:251076 |
| Burn-Mckeown Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia |
OMIM:608572 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Glomerulonephritis, Chronic tubulo... |
OMIM:614376 |
| Papillorenal Syndrome |
|
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5... |
OMIM:120330 |
| Posterior Urethral Valve |
|
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... |
ORPHA:93110 |
| Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Anemia |
ORPHA:371 |
| Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
| Penoscrotal Transposition |
|
Penoscrotal transposition, Abnormality of the urethra, Renal agenesis, Abnormality of the ureter,... |
ORPHA:2842 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Unilateral renal hypoplasia, Vesicoureteral reflux |
OMIM:619955 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume |
ORPHA:494444 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Hydronephrosis, Unilateral renal agenesis, Renal hypoplasia |
OMIM:618494 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Abnormality of the ureter, Obesity |
ORPHA:1035 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
| Mungan Syndrome |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:611376 |
| Rudiger Syndrome |
|
Micropenis, Bicornuate uterus, Ureterovesical stenosis, Ovarian cyst |
OMIM:268650 |
| Hemolytic Anemia, Congenital, X-Linked |
|
Hemolytic anemia |
OMIM:301015 |
| Birk-Landau-Perez Syndrome |
|
Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Failure to thrive in in... |
OMIM:617595 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... |
OMIM:159550 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia |
OMIM:612527 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... |
ORPHA:75564 |
| Orofaciodigital Syndrome Xv |
|
Hydronephrosis |
OMIM:617127 |
| Adams-Oliver Syndrome 6 |
|
Renal hypoplasia |
OMIM:616589 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia |
ORPHA:169079 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Renal hypoplasia, Ketonuria |
OMIM:619053 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki... |
OMIM:617641 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the urethra, Urinary retention, Abnormality of the ovary, Polycystic ovaries, Urin... |
ORPHA:2795 |
| Cach Syndrome |
|
Renal hypoplasia |
ORPHA:135 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Sideroblastic anemia, Splenomegaly, Hypochromia, Poikilocytosis, Anemia, Decreased mean corpuscul... |
OMIM:615234 |
| Congenital Myopathy 19 |
|
Hydronephrosis, Renal atrophy |
OMIM:618578 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis |
OMIM:300367 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... |
OMIM:125250 |
| Spherocytosis, Type 2 |
|
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia |
OMIM:616649 |
| 12Q14 Microdeletion Syndrome |
|
Horseshoe kidney, Renal hypoplasia, Ectopic kidney, Failure to thrive |
ORPHA:94063 |
| Immunodeficiency 46 |
|
Anemia, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ... |
OMIM:614723 |
| Isolated Atp Synthase Deficiency |
|
Renal hypoplasia, 3-Methylglutaconic aciduria |
ORPHA:254913 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hypochromia, Anemia, Decre... |
OMIM:616860 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Hydronephrosis, Vesicoureteral reflux, Decreased body weight |
OMIM:618265 |
| 6P22 Microdeletion Syndrome |
|
Hydronephrosis |
ORPHA:251046 |
| Ovarian Fibroma |
|
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification |
ORPHA:314473 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Acute myeloid leukemia, Refractory anemia, Monocytosis |
OMIM:616871 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Spherocytosis, Splenomegaly, Reticulocytosis |
OMIM:612653 |
| Prune Belly Syndrome |
|
Hydronephrosis, Hydroureter, Congenital posterior urethral valve |
OMIM:100100 |
| Fanconi Anemia, Complementation Group T |
|
Anemia, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia |
OMIM:616435 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Anemia |
OMIM:614514 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Splenomegaly, Reticulocytosis, Nonspherocytic hemolytic anemia, Reduced erythr... |
OMIM:235700 |
| Fanconi Anemia, Complementation Group W |
|
Renal hypoplasia |
OMIM:617784 |
| Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Renal hypoplasia, Renal insufficiency, Hypoplasia of penis, Renal dysplasia |
ORPHA:85321 |
| Williams-Beuren Region Duplication Syndrome |
|
Hydronephrosis, Unilateral renal agenesis, Small for gestational age, Failure to thrive |
OMIM:609757 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Atresia Of Urethra |
|
Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency... |
ORPHA:105 |
| Joubert Syndrome 35 |
|
Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections |
OMIM:618161 |
| Duplication Of Urethra |
|
Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli... |
ORPHA:237 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... |
OMIM:300835 |
| Emanuel Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Failure to thrive, Recurrent urinary tract infection... |
OMIM:609029 |
| Oslam Syndrome |
|
Anemia |
OMIM:165660 |
| Bor Syndrome |
|
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ... |
ORPHA:107 |
| Endove Syndrome, Limb-Brain Type |
|
Hydronephrosis, Neurogenic bladder, Failure to thrive, Recurrent urinary tract infections |
OMIM:619218 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
| Lesch-Nyhan Syndrome |
|
Anemia |
ORPHA:510 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Acute kidney injury, Unilateral renal hypoplasia, Renal insufficiency, Ureteropelvic junction obs... |
ORPHA:49041 |
| Microphthalmia, Syndromic 9 |
|
Renal hypoplasia, Horseshoe kidney, Neonatal death, Hydronephrosis, Pelvic kidney, Renal malrotation |
OMIM:601186 |
| X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly |
ORPHA:75563 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Renal hypoplasia |
ORPHA:75389 |
| Urban-Rogers-Meyer Syndrome |
|
Abnormality of the ureter, Hypoplasia of penis, Obesity |
ORPHA:3409 |
| Caudal Duplication Anomaly |
|
Ureteral duplication |
OMIM:607864 |
| Congenital Myopathy 17 |
|
Hydronephrosis, Failure to thrive in infancy, Renal hypoplasia, Ureteropelvic junction obstruction |
OMIM:618975 |
| Rh-Null, Regulator Type |
|
Stomatocytosis, Hemolytic anemia |
OMIM:268150 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Proteinuria, Renal hypoplasia, Renal insufficiency |
ORPHA:1307 |
| Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Obesity, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment |
OMIM:617519 |
| Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:609820 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Anemia, Asplenia |
ORPHA:3204 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... |
OMIM:224120 |
| Ureter, Bifid Or Double |
|
Ureteral duplication |
OMIM:191550 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
| Fanconi Anemia, Complementation Group F |
|
Renal hypoplasia, Failure to thrive, Microphallus, Vesicoureteral reflux, Pelvic kidney |
OMIM:603467 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Displacement of the urethr... |
ORPHA:2973 |
| Fraser Syndrome 2 |
|
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of... |
OMIM:617666 |
| Familial Pseudohyperkalemia |
|
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia |
ORPHA:90044 |
| Ureterocele |
|
Duplicated collecting system, Ureterocele |
OMIM:191650 |
| Rauch-Steindl Syndrome |
|
Miscarriage, Failure to thrive, Bilateral renal hypoplasia, Hyperechogenic kidneys |
OMIM:619695 |
| Renal Cysts And Diabetes Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop... |
OMIM:137920 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydronephrosis, Urethral atresia, Enlarged kidney, Neonatal death |
OMIM:314390 |
| Senior-Boichis Syndrome |
|
Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Hyperechoge... |
ORPHA:84081 |
| Hereditary Xanthinuria |
|
Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, Increased urina... |
ORPHA:3467 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... |
ORPHA:3202 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Renal hypoplasia |
OMIM:618914 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hydronephrosis |
OMIM:619797 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia |
OMIM:618849 |
| Elliptocytosis 1 |
|
Hemolytic anemia, Splenomegaly, Elliptocytosis |
OMIM:611804 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:617660 |
| Caudal Regression Syndrome |
|
Renal agenesis, Abnormality of the ureter, Renal insufficiency, Vesicoureteral reflux, Ureteral d... |
ORPHA:3027 |
| Khan-Khan-Katsanis Syndrome |
|
Renal hypoplasia, Failure to thrive, Vesicoureteral reflux, Hydronephrosis, Renal cyst, Ureteral ... |
OMIM:618460 |
| Mu-Heavy Chain Disease |
|
Anemia, Abnormal B cell count, Splenomegaly |
ORPHA:100024 |
| Emanuel Syndrome |
|
Micropenis, Unilateral renal agenesis, Renal hypoplasia, Failure to thrive |
ORPHA:96170 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Renal hypoplasia, Absence of renal corticomedullary differentiation |
OMIM:619758 |
| Pallister-Hall Syndrome |
|
Renal hypoplasia, Hydroureter, Distal urethral duplication, Neonatal death, Hydronephrosis, Renal... |
OMIM:146510 |
| Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
| Erythrocytosis, Familial, 6 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
| Diabetic Embryopathy |
|
Hydronephrosis, Ureteral duplication, Micropenis, Renal hypoplasia/aplasia |
ORPHA:1926 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Vesicoureteral reflux, Hydroureter, Nephrolithiasis |
OMIM:617219 |
| Ovarian Fibrothecoma |
|
Abnormality of the ovary, Abnormal endometrium morphology, Gonadal calcification, Ovarian fibroma |
ORPHA:314478 |
| Primary Hyperoxaluria Type 2 |
|
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... |
ORPHA:93599 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Renal hypoplasia, Polycystic kidney dysplasia, Renal cyst |
OMIM:614091 |
| Diamond-Blackfan Anemia 5 |
|
Erythroid hypoplasia, Leukopenia, Reticulocytopenia, Macrocytic anemia |
OMIM:612528 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormality of the ureter, Hypospadias |
ORPHA:2522 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Abnormality of the upper urinary tract, Hypoplasia of penis, Abnormality of the bladder, Hydroureter |
ORPHA:2547 |
| Desmoid Tumor |
|
Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:873 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Reduce... |
OMIM:277000 |
| Alpha-Thalassemia |
|
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... |
ORPHA:846 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia |
OMIM:616738 |
| Senior-Loken Syndrome 4 |
|
Anemia |
OMIM:606996 |
| Tetraploidy |
|
Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:3305 |
| Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the urinary system, Abnormality of the ureter, Renal hypoplasia/aplasia, Hydroneph... |
ORPHA:1834 |
| Aredyld Syndrome |
|
Abnormality of the ureter, Cachexia |
ORPHA:1133 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Unilateral renal agenesis, Renal hypoplasia, Truncal obesity, Micropenis, Ectopic kidney |
OMIM:616541 |
| Marden-Walker Syndrome |
|
Micropenis, Renal hypoplasia, Hypospadias |
OMIM:248700 |
| Hypouricemia, Renal, 1 |
|
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... |
OMIM:220150 |
| Duane-Radial Ray Syndrome |
|
Renal hypoplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Vesicoureteral r... |
OMIM:607323 |
| Exstrophy-Epispadias Complex |
|
Penoscrotal transposition, Renal hypoplasia, Renal dysplasia, Horseshoe kidney, Abnormality of th... |
ORPHA:322 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Spherocytosis, Splenomegaly, Reticulocytosis |
OMIM:182900 |
| Chromosome 17Q12 Deletion Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... |
OMIM:614527 |
| Bladder Exstrophy |
|
Recurrent urinary tract infections, Abnormality of the ureter, Vesicoureteral reflux, Hypoplasia ... |
ORPHA:93930 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
| Hydatidiform Mole |
|
Anemia |
ORPHA:99927 |
| Stromme Syndrome |
|
Hydronephrosis, Bilateral renal hypoplasia, Stillbirth |
OMIM:243605 |
| Penile Agenesis |
|
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, H... |
ORPHA:49 |
| Xanthinuria, Type I |
|
Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria |
OMIM:278300 |
| Joubert Syndrome 37 |
|
Hydronephrosis, Obesity, Micropenis |
OMIM:619185 |
| Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Pheochromocytoma, Sensorineural hearing impairment, Tinnitus, Multiple renal cy... |
OMIM:193300 |
| Endove Syndrome, Limb-Only Type |
|
Hydronephrosis, Vesicoureteral reflux |
OMIM:619217 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... |
OMIM:601455 |
| Bone Marrow Failure Syndrome 4 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:618116 |
| Fliedner-Zweier Syndrome |
|
Hydronephrosis, Unilateral renal agenesis, Multicystic kidney dysplasia, Obesity |
OMIM:620511 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydronephrosis, Hydroureter, Megacystis |
OMIM:619431 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Abnormality of the ureter, Renal hypoplasia/aplasia |
ORPHA:1770 |
| Wolfram Syndrome 1 |
|
Hydronephrosis, Neurogenic bladder, Hydroureter |
OMIM:222300 |
| Trisomy 13 |
|
Hydronephrosis, Abnormality of the ureter, Multiple renal cysts, Displacement of the urethral meatus |
ORPHA:3378 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Anemia |
ORPHA:2668 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Renal duplication, Hematuria, ... |
ORPHA:79403 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hydronephrosis |
OMIM:620141 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Hydroureter, Fetal megacystis |
OMIM:249210 |
| Recombinant Chromosome 8 Syndrome |
|
Hydronephrosis |
OMIM:179613 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,... |
ORPHA:98870 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... |
OMIM:601596 |
| Caudal Duplication |
|
Abnormal penis morphology, Ureteral duplication, Renal hypoplasia/aplasia |
ORPHA:1756 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ... |
ORPHA:90301 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Hydronephrosis |
OMIM:618060 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
| Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Hydronephrosis, Failure to thrive |
ORPHA:488613 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:88 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Horseshoe kidney, Ureteral duplication, Ectopic kidney, Renal agenesis |
OMIM:602200 |
| Suleiman-El-Hattab Syndrome |
|
Hydronephrosis, Failure to thrive |
OMIM:618950 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Splenomegaly, Thrombocytopenia |
OMIM:615085 |
| Aromatase Deficiency |
|
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst |
OMIM:613546 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis |
OMIM:266120 |
| Orotic Aciduria |
|
Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r... |
OMIM:258900 |
| Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... |
OMIM:600501 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Unilateral renal agenesis, Renal hypoplasia, Vesicoureteral reflux, Obesity |
OMIM:620654 |
| Satoyoshi Syndrome |
|
Abnormality of the ovary, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the u... |
ORPHA:3130 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Renal cyst, Renal hypoplasia, Stillbirth |
OMIM:616300 |
| Hereditary Orotic Aciduria |
|
Aminoaciduria, Abnormality of the ureter, Oroticaciduria, Orotic acid crystalluria |
ORPHA:30 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... |
ORPHA:1215 |
| Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Macrocytic anemia, Congenital hypoplastic anemia, Anemia of inadequate production |
OMIM:105600 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde... |
ORPHA:158684 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Hydronephrosis |
OMIM:617913 |
| Lethal Congenital Contracture Syndrome 2 |
|
Hydronephrosis |
OMIM:607598 |
| Copper Deficiency, Familial Benign |
|
Anemia |
OMIM:121270 |
| Smith-Magenis Syndrome |
|
Failure to thrive in infancy, Abnormality of the ureter, Obesity, Renal hypoplasia/aplasia, Abnor... |
ORPHA:819 |
| Czeizel-Losonci Syndrome |
|
Ureteral agenesis, Congenital megaureter, Abnormality of the urinary system, Hydronephrosis |
ORPHA:2437 |
| Nephronophthisis 9 |
|
Anemia |
OMIM:613824 |
| Beta-Thalassemia |
|
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia |
ORPHA:848 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Ectopic ovary, Unilateral renal agenesis, Hearing impairment, Horseshoe kidney, Aplasia of the ov... |
ORPHA:3109 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Renal hypoplasia, Microphallus, Vesicoureteral reflux, Hydronephrosis, Renal cyst |
OMIM:618454 |
| Bladder Exstrophy And Epispadias Complex |
|
Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bladder exstrophy, Epispadias |
OMIM:600057 |
| Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h... |
OMIM:228300 |
| Webb-Dattani Syndrome |
|
Obesity, Vesicoureteral reflux, Hydronephrosis, Neurogenic bladder, Hyposthenuria |
OMIM:615926 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Refractory anemia, Thrombocytopenia |
OMIM:231095 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Renal hypoplasia, Nephroblastoma |
OMIM:612918 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hydronephrosis, Micropenis, Hypospadias, Small for gestational age |
OMIM:616897 |
| Igg4-Related Aortitis |
|
Hydronephrosis, Weight loss |
ORPHA:449400 |
| Tarp Syndrome |
|
Horseshoe kidney, Hydronephrosis, Failure to thrive, Neonatal death |
OMIM:311900 |
| Johanson-Blizzard Syndrome |
|
Failure to thrive, Death in infancy, Hydronephrosis, Hypoplasia of penis, Hypospadias |
ORPHA:2315 |
| Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Prelingual sensorineural hearing impairment, Abnormality of somatosensory evoked p... |
ORPHA:52368 |
| Müllerian Aplasia And Hyperandrogenism |
|
Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology, Protruding ear |
ORPHA:247768 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Vesicoureteral reflux, Hydronephrosis, Micropenis, Duplicated collecting system, Hypospadias, Sma... |
OMIM:301056 |
| ERI1-related disease |
|
Failure to thrive, Vesicoureteral reflux, Decreased body weight, Hydronephrosis, Small for gestat... |
OMIM:608739 |
| Distal Triplication 15Q |
|
Dilatation of the renal pelvis, Horseshoe kidney, Large for gestational age, Nephroblastoma, Hydr... |
ORPHA:314588 |
| Tetrasomy 15Q26 |
|
Horseshoe kidney, Hydronephrosis |
OMIM:614846 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials |
OMIM:617523 |
| Nephronophthisis 3 |
|
Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insufficiency, Protein... |
OMIM:604387 |
| Toluene Embryopathy |
|
Hydronephrosis, Abnormal localization of kidney |
ORPHA:1920 |
| Noonan Syndrome 4 |
|
Hydronephrosis, Ureteral duplication, Large for gestational age |
OMIM:610733 |
| Pseudotrisomy 13 Syndrome |
|
Micropenis, Renal hypoplasia, Renal agenesis |
OMIM:264480 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Hydronephrosis |
OMIM:300048 |
| Kinsship Syndrome |
|
Horseshoe kidney, Renal hypoplasia, Failure to thrive, Death in infancy |
OMIM:619297 |
| 46,Xy Sex Reversal 7 |
|
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... |
OMIM:233420 |
| 22Q11.2 Duplication Syndrome |
|
Hydronephrosis, Urethral stenosis, Displacement of the urethral meatus |
ORPHA:1727 |
| Andersen-Tawil Syndrome |
|
Renal hypoplasia, Renal tubular dysfunction |
ORPHA:37553 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hydronephrosis, Hypoplasia of penis |
ORPHA:2083 |
| Short-Rib Thoracic Dysplasia 12 |
|
Renal hypoplasia, Cystic renal dysplasia, Neonatal death |
OMIM:269860 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... |
OMIM:617021 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Renal insufficiency, Death in infancy, Hydronephrosis, Long-chain dicarboxylic a... |
OMIM:608836 |
| Ulnar-Mammary Syndrome |
|
Renal hypoplasia, Obesity, Hypoplasia of penis |
ORPHA:3138 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Splenomegaly, Thrombocytopenia, Reticulocytosis |
OMIM:611490 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... |
OMIM:616959 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Micropenis, Slender build, Hydronephrosis |
ORPHA:364028 |
| Immunodeficiency 32B |
|
Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil... |
OMIM:226990 |
| Zellweger Syndrome |
|
Multicystic kidney dysplasia, Failure to thrive, Death in infancy, Hydronephrosis, Hypospadias |
ORPHA:912 |
| Baller-Gerold Syndrome |
|
Failure to thrive in infancy, Abnormality of the ureter, Vesicoureteral reflux, Hydronephrosis, A... |
ORPHA:1225 |
| Ritscher-Schinzel Syndrome 1 |
|
Hydronephrosis, Hypospadias |
OMIM:220210 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Anemia, Splenomegaly |
OMIM:620296 |
| Peutz-Jeghers Syndrome |
|
Abnormality of the ureter, Multiple renal cysts, Renal cell carcinoma |
ORPHA:2869 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis |
OMIM:618398 |
| Cornelia De Lange Syndrome 1 |
|
Renal hypoplasia, Reduced renal corticomedullary differentiation, Vesicoureteral reflux, Proteinu... |
OMIM:122470 |
| Van Maldergem Syndrome 1 |
|
Renal hypoplasia, Hypospadias |
OMIM:601390 |
| Alagille Syndrome |
|
Abnormality of the ureter, Nephrotic syndrome, Failure to thrive, Renal hypoplasia/aplasia |
ORPHA:52 |
| Trisomy 1Q |
|
Congenital megaureter, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:261344 |
| Cerebrofacioarticular Syndrome |
|
Renal hypoplasia, Hypospadias |
ORPHA:314679 |
| Cockayne Syndrome Type 3 |
|
Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Renal insufficiency,... |
ORPHA:90324 |
| Marden-Walker Syndrome |
|
Abnormal penis morphology, Multicystic kidney dysplasia, Abnormality of the urinary system, Hydro... |
ORPHA:2461 |
| Netherton Syndrome |
|
Aminoaciduria, Hydronephrosis, Ectopic kidney |
ORPHA:634 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Large for gestational age, Vesicoureteral reflux, Hydronephrosis, Bladder trabeculation, Ureteral... |
OMIM:614080 |
| Alagille Syndrome 1 |
|
Focal segmental glomerulosclerosis, Renal hypoplasia, Failure to thrive, Multiple small medullary... |
OMIM:118450 |
| Trisomy 17P |
|
Hydronephrosis, Hypoplasia of penis, Urethral valve, Polycystic kidney dysplasia, Urethral stenosis |
ORPHA:261290 |
| Nephrogenic Diabetes Insipidus |
|
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Failure to thrive, Renal i... |
ORPHA:223 |
| Multicystic Dysplastic Kidney |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... |
ORPHA:1851 |
| Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Failure to thrive, Abnormality of the ureter, Abnormality of the bladd... |
ORPHA:3339 |
| Van Maldergem Syndrome 2 |
|
Micropenis, Renal hypoplasia, Hypospadias |
OMIM:615546 |
| Renal Agenesis |
|
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... |
ORPHA:411709 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia |
OMIM:612840 |
| Microphthalmia, Lenz Type |
|
Hydronephrosis, Hypospadias, Hydroureter, Renal hypoplasia/aplasia |
ORPHA:568 |
| Kury-Isidor Syndrome |
|
Hydronephrosis |
OMIM:619762 |
| Al-Gazali Syndrome |
|
Hydronephrosis, Failure to thrive |
OMIM:609465 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Hydronephrosis, Failure to thrive |
OMIM:619179 |
| 46,Xy Sex Reversal 4 |
|
Hydronephrosis, Ureteropelvic junction obstruction, Renal dysplasia |
OMIM:154230 |
| Amyloidosis, Finnish Type |
|
Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic syndrome, Renal glom... |
OMIM:105120 |
| Rh Deficiency Syndrome |
|
Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos... |
ORPHA:71275 |
| Vacterl/Vater Association |
|
Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Hydronephrosis, Ectopic... |
ORPHA:887 |
| Hemochromatosis, Type 5 |
|
Anemia |
OMIM:615517 |
| Koolen-De Vries Syndrome |
|
Vesicoureteral reflux, Renal duplication, Hydronephrosis, Ureteral duplication, Hypospadias |
ORPHA:96169 |
| Imerslund-Grasbeck Syndrome 2 |
|
Anemia, Megaloblastic anemia |
OMIM:618882 |
| Phakomatosis Pigmentokeratotica |
|
Unilateral renal hypoplasia, Renal transitional cell carcinoma, Nephroblastoma |
ORPHA:2874 |
| 9Q21.13 Microdeletion Syndrome |
|
Hydronephrosis |
ORPHA:531151 |
| Bone Marrow Failure Syndrome 5 |
|
Erythroid hypoplasia, Pure red cell aplasia, Anemia |
OMIM:618165 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hydronephrosis, Duplicated collecting system, Small for gestational age, Failure to thrive |
OMIM:617093 |
| Mckusick-Kaufman Syndrome |
|
Multicystic kidney dysplasia, Failure to thrive, Glandular hypospadias, Renal hypoplasia/aplasia,... |
ORPHA:2473 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... |
OMIM:610532 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Anemia |
ORPHA:3405 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612924 |
| Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
| Fraser Syndrome 3 |
|
Hypoplasia of the bladder, Bilateral renal agenesis, Ureteral agenesis, Stillbirth, Hypoplasia of... |
OMIM:617667 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Crossed fused renal ectopia, Vesicoureteral reflux, Hydro... |
OMIM:300707 |
| Zaki Syndrome |
|
Hydronephrosis, Renal agenesis |
OMIM:619648 |
| Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
ORPHA:2496 |
| Kleefstra Syndrome |
|
Obesity, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Renal cyst, Micropenis, Hypo... |
ORPHA:261494 |
| Trisomy 20P |
|
Abnormality of the ureter, Hydronephrosis, Multiple renal cysts, Abnormality of the kidney, Abnor... |
ORPHA:261318 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612926 |
| Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Cryptorchidism, Hearing impairment |
OMIM:193700 |
| Smith-Lemli-Opitz Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Duplicated collecting system, Renal agenesis, Failur... |
OMIM:270400 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Anemia, Neutropenia, Anisopoikilocytosis |
OMIM:619835 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Failure to thrive in infancy, Renal insufficiency, Hydronephrosis, Hypospadias, Hemolytic-uremic ... |
OMIM:611209 |
| Fanconi Anemia, Complementation Group L |
|
Micropenis, Unilateral renal agenesis, Renal hypoplasia |
OMIM:614083 |
| Igg4-Related Kidney Disease |
|
Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Urethritis, Ureteral o... |
ORPHA:449395 |
| 3C Syndrome |
|
Hydronephrosis, Hypoplasia of penis, Hypospadias, Death in infancy |
ORPHA:7 |
| Carpenter Syndrome 1 |
|
Hydronephrosis, Obesity, Hydroureter |
OMIM:201000 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hepatosplenomegaly, Reticulocytopenia, Dysplastic erythropoesis, Anisopoikilocytosis, Anemia, Dec... |
ORPHA:300298 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormality of the ureter, Hypospadias |
ORPHA:2311 |
| Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... |
OMIM:210250 |
| Hypoplasminogenemia |
|
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis, Nephrolithiasis |
ORPHA:722 |
| Melnick-Needles Syndrome |
|
Hydronephrosis, Vesicoureteral reflux |
ORPHA:2484 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydronephrosis, Ureteral triplication |
OMIM:104350 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Multicystic kidney dysplasia, Hydroureter, Urinary retention, Ureterocele, Recurrent urinary trac... |
ORPHA:79404 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia |
OMIM:618838 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:619260 |
| Cloacal Exstrophy |
|
Hydroureter, Ureterocele, Horseshoe kidney, Vesicoureteral reflux, Ureteropelvic junction obstruc... |
ORPHA:93929 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydronephrosis, Abnormality of the upper urinary tract, Hydroureter, Failure to thrive |
ORPHA:2995 |
| Branchio-Oculo-Facial Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Renal agenesis |
ORPHA:1297 |
| Raine Syndrome |
|
Hydronephrosis, Hydroureter, Death in infancy, Neonatal death |
OMIM:259775 |
| Cockayne Syndrome Type 1 |
|
Optic atrophy, Male hypogonadism, Hearing impairment, Renal insufficiency, Cryptorchidism, Abnorm... |
ORPHA:90321 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
| Mogs-Cdg |
|
Optic atrophy, External genital hypoplasia, Sensorineural hearing impairment, Absent brainstem au... |
ORPHA:79330 |
| Poland Syndrome |
|
Renal hypoplasia, Ureterocele, Vesicoureteral reflux, Renal hypoplasia/aplasia, Duplicated collec... |
ORPHA:2911 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... |
ORPHA:206443 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Hypospadias, Renal hypoplasia, Renal agenesis, Horseshoe kidney, Pelvic kidney |
ORPHA:508498 |
| Pfeiffer Syndrome Type 3 |
|
Horseshoe kidney, Hydronephrosis, Vesicoureteral reflux |
ORPHA:93260 |
| Ellis Van Creveld Syndrome |
|
Hydroureter, Failure to thrive, Abnormality of the ureter, Renal hypoplasia/aplasia, Abnormality ... |
ORPHA:289 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612925 |
| Syndromic Diarrhea |
|
Renal hypoplasia, Polycystic kidney dysplasia, Small for gestational age |
ORPHA:84064 |
| Intellectual Disability, Buenos-Aires Type |
|
Hydronephrosis |
ORPHA:3079 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Unilateral renal agenesis, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Polycystic... |
ORPHA:2237 |
| Gamma-Heavy Chain Disease |
|
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Thrombocytopenia, Anem... |
ORPHA:100026 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Hydronephrosis, Neurogenic bladder, Failure to thrive, Death in infancy |
OMIM:608779 |
| Melnick-Needles Syndrome |
|
Hydronephrosis, Failure to thrive, Ureteral stenosis, Stillbirth |
OMIM:309350 |
| Micro Syndrome |
|
Hydronephrosis, Abnormal localization of kidney, Hypoplasia of penis |
ORPHA:2510 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Hydronephrosis |
OMIM:620327 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hydronephrosis, Unilateral renal agenesis |
OMIM:620454 |
| Sacral Agenesis With Vertebral Anomalies |
|
Unilateral renal agenesis, Persistent cloaca, Neonatal death |
OMIM:615709 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Nephrocalcinosis, Hydroureter, Ureteral stenosis, Large for gestational age, Renal cyst, Hypercal... |
OMIM:615398 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Ureteral duplication, Renal hypoplasia, Ureteral stenosis |
OMIM:270100 |
| Hoxha-Aliu Syndrome |
|
Hydronephrosis, Vesicoureteral reflux |
OMIM:620662 |
| Dextrocardia |
|
Abnormality of the ureter, Abnormal renal morphology |
ORPHA:1666 |
| Familial Adenomatous Polyposis 4 |
|
Renal cyst, Ovarian cyst, Uterine leiomyoma |
OMIM:617100 |
| Kabuki Syndrome |
|
Abnormal localization of kidney, Failure to thrive, Crossed fused renal ectopia, Obesity, Uretero... |
ORPHA:2322 |
| Hereditary Spherocytosis |
|
Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Extramedullary... |
ORPHA:822 |
| Koolen-De Vries Syndrome |
|
Failure to thrive, Recurrent urinary tract infections, Vesicoureteral reflux, Hydronephrosis, Sma... |
OMIM:610443 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Aminoaciduria, Failure to thrive, Death in childhood, Hydronephrosis, Albuminuria, Hypospadias, R... |
OMIM:214100 |
| Feingold Syndrome Type 1 |
|
Nephritis, Horseshoe kidney, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Abnormal... |
ORPHA:391641 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Hydronephrosis, Micropenis |
OMIM:612513 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hydronephrosis, Micropenis, Death in infancy |
OMIM:235255 |
| Degcags Syndrome |
|
Chronic kidney disease, Renal hypoplasia, Bilateral renal dysplasia, Bilateral renal hypoplasia, ... |
OMIM:619488 |
| Noonan Syndrome 9 |
|
Hydroureter |
OMIM:616559 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Cry... |
OMIM:609136 |
| Cockayne Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Renal insufficiency, Proteinuria, Cachexia, Neurogen... |
ORPHA:191 |
| Vici Syndrome |
|
Renal tubular acidosis, Death in infancy, Ureteral atresia |
ORPHA:1493 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Renal hypoplasia, Failure to thrive, Death in childhood, Death in infancy, Renal cyst, Stillbirth... |
OMIM:210710 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Hydronephrosis |
ORPHA:457193 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the ureter |
ORPHA:3253 |
| Corticosteroid-Binding Globulin Deficiency |
|
Anemia |
OMIM:611489 |
| Scalp-Ear-Nipple Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Renal insufficiency, Pyelonephritis |
OMIM:181270 |
| 1Q21.1 Microdeletion Syndrome |
|
Hydronephrosis, Vesicoureteral reflux, Failure to thrive |
ORPHA:250989 |
| 17Q12 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Renal insufficiency, Ureterocele, Renal hypoplasia/aplasia |
ORPHA:261265 |
| 15Q Overgrowth Syndrome |
|
Ureterovesical stenosis, Horseshoe kidney, Nephroblastoma, Hydronephrosis, Abnormal renal morphology |
ORPHA:314585 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hydronephrosis, Hypospadias |
OMIM:616449 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Unilateral renal agenesis, Hypospadias, Failure to thrive, Hydronephrosis, Renal cyst, Micropenis... |
ORPHA:464311 |
| Cat Eye Syndrome |
|
Horseshoe kidney, Hydronephrosis, Vesicoureteral reflux, Renal agenesis |
OMIM:115470 |
| Stankiewicz-Isidor Syndrome |
|
Micropenis, Ureteral duplication, Hypospadias |
OMIM:617516 |
| 2P15P16.1 Microdeletion Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Failure to thrive |
ORPHA:261349 |
| Letterer-Siwe Disease |
|
Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia |
OMIM:246400 |
| Mckusick-Kaufman Syndrome |
|
Hydronephrosis, Polycystic kidney dysplasia, Hydroureter, Vesicovaginal fistula |
OMIM:236700 |
| Trisomy 10P |
|
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Absent gallbladder... |
ORPHA:171929 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency, Ureteral atresia, Neonatal ... |
OMIM:208540 |
| Fryns Syndrome |
|
Renal agenesis, Large for gestational age, Hydronephrosis, Renal cyst, Stillbirth, Ureteral dupli... |
OMIM:229850 |
| Otopalatodigital Syndrome Type 2 |
|
Hydronephrosis, Ureteral obstruction, Hypospadias, Failure to thrive |
ORPHA:90652 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Increased urinary 11-deoxycorticosterone level, Male hypogonadism, Precocious puberty in females,... |
ORPHA:90793 |
| Teebi-Shaltout Syndrome |
|
Horseshoe kidney, Hydronephrosis, Ureteral stenosis |
OMIM:272950 |
| Takenouchi-Kosaki Syndrome |
|
Hydronephrosis, Unilateral renal agenesis, Hypospadias |
OMIM:616737 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hydronephrosis, Duplicated collecting system |
ORPHA:541423 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Anemia, Lymphopenia, Thrombocytopenia |
OMIM:620365 |
| Encephalocraniocutaneous Lipomatosis |
|
Hydronephrosis, Pelvic kidney |
OMIM:613001 |
| Cerebellar-Facial-Dental Syndrome |
|
Hydronephrosis, Ureteropelvic junction obstruction, Failure to thrive |
ORPHA:444072 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Hydronephrosis, Failure to thrive |
OMIM:302960 |
| Visceral Myopathy 1 |
|
Hydronephrosis, Vesicoureteral reflux, Urinary retention, Megacystis |
OMIM:155310 |
| Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia... |
OMIM:603554 |
| 22Q11.2 Deletion Syndrome |
|
Renal hypoplasia, Failure to thrive, Obesity, Vesicoureteral reflux, Multiple renal cysts, Polycy... |
ORPHA:567 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Horseshoe kidney, Hydronephrosis, Vesicoureteral reflux, Ectopic kidney |
OMIM:235510 |
| 14Q22Q23 Microdeletion Syndrome |
|
Renal hypoplasia |
ORPHA:264200 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Micropenis, Renal hypoplasia, Abdominal obesity |
OMIM:619321 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Hydroureter, Megacystis |
ORPHA:2241 |
| Fryns Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Vesicoureteral reflux, Hypospadias |
ORPHA:2059 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Urolithiasis, Renal insufficiency, Death in childhood, Hyperuricosuria, Uric acid nephrolithiasis... |
OMIM:300661 |
| Oeis Complex |
|
Duplicated collecting system, Hydroureter, Vesicovaginal fistula, Renal agenesis, Hydronephrosis,... |
OMIM:258040 |
| Mandibulofacial Dysostosis With Alopecia |
|
Hydroureter |
OMIM:616367 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Hydronephrosis |
ORPHA:35173 |
| Carey-Fineman-Ziter Syndrome |
|
Glandular hypospadias, Hydronephrosis |
ORPHA:1358 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Death in infancy, Hydronephrosis, Abnormality of the kidney, ... |
ORPHA:847 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Obesity, Vesicoureteral reflux, Hydronephrosis, Micropenis, Pelvic kidney |
OMIM:618653 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Hydronephrosis, Unilateral renal agenesis, Stillbirth |
OMIM:308050 |
| Mosaic Trisomy 9 |
|
Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Hypoplasia of penis, Renal dysplasia |
ORPHA:99776 |
| 15q26 overgrowth syndrome |
|
Duplication of renal pelvis, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephro... |
DECIPHER:81 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Unilateral renal agenesis, Hypospadias, Failure to thrive, Hydronephrosis, Renal cyst, Micropenis... |
ORPHA:464306 |
| Vater/Vacterl Association |
|
Renal agenesis, Failure to thrive, Vesicoureteral reflux, Ureteropelvic junction obstruction, Hyd... |
OMIM:192350 |
| White-Kernohan Syndrome |
|
Horseshoe kidney, Obesity, Hydronephrosis, Hydroureter |
OMIM:619426 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Horseshoe kidney, Hydronephrosis, Functional abnormality of the bladder, Nephrolithiasis |
ORPHA:2953 |
| Mosaic Trisomy 8 |
|
Hydronephrosis, Vesicoureteral reflux |
ORPHA:96061 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Hydronephrosis, Micropenis |
OMIM:617798 |
| Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Hydronephrosis, Vesicoureteral reflux |
OMIM:620663 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Duplicated collecting system, Hydroureter, Ureterocele, Megacystis, Renal agenesis, Vesicouretera... |
OMIM:604292 |
| Nephronophthisis 4 |
|
Anemia |
OMIM:606966 |
| Adult Krabbe Disease |
|
Urinary incontinence, Delayed brainstem auditory evoked response conduction time, EEG abnormality |
ORPHA:206448 |
| Williams Syndrome |
|
Renal hypoplasia, Nephrocalcinosis, Recurrent urinary tract infections, Failure to thrive in infa... |
ORPHA:904 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Hydronephrosis, Abnormal bladder morphology, Vesicoureteral reflux, Failure to thrive |
ORPHA:453499 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Renal hypoplasia, Obesity, Failure to thrive, Recurrent urinary tract infections |
OMIM:617157 |
| Frontometaphyseal Dysplasia 1 |
|
Hydronephrosis, Hydroureter |
OMIM:305620 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Renal hypoplasia |
OMIM:620005 |
| Genitopatellar Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia |
ORPHA:85201 |
| Pelvis-Shoulder Dysplasia |
|
Hydronephrosis |
ORPHA:2839 |
| Codas Syndrome |
|
Hydroureter |
ORPHA:1458 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Hydronephrosis, Moderate albuminuria, Obesity |
OMIM:619269 |
| Townes-Brocks Syndrome |
|
Renal hypoplasia, Failure to thrive, Renal insufficiency, Vesicoureteral reflux, Multiple renal c... |
ORPHA:857 |
| Cockayne Syndrome A |
|
Optic atrophy, Abnormal auditory evoked potentials, Hypogonadism, Decreased nerve conduction velo... |
OMIM:216400 |
| Renpenning Syndrome 1 |
|
Renal hypoplasia, Hypospadias, Death in childhood, Phimosis |
OMIM:309500 |
| Gabriele-De Vries Syndrome |
|
Hydronephrosis, Ureteropelvic junction obstruction |
OMIM:617557 |
| Peutz-Jeghers Syndrome |
|
Abnormality of the ureter, Bladder polyp |
OMIM:175200 |
| Developmental And Epileptic Encephalopathy 50 |
|
Anemia, Acanthocytosis, Schistocytosis, Anisopoikilocytosis |
OMIM:616457 |
| Erdheim-Chester Disease |
|
Hydronephrosis, Weight loss, Dysuria, Renal insufficiency |
ORPHA:35687 |
| Diamond-Blackfan Anemia 1 |
|
Renal hypoplasia, Failure to thrive |
OMIM:105650 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Hydronephrosis |
ORPHA:247262 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hydronephrosis, Abnormal renal morphology, Micropenis |
ORPHA:1655 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Hydronephrosis, Abnormality of the urinary system, Micropenis |
ORPHA:96092 |
| Williams-Beuren Syndrome |
|
Renal hypoplasia, Nephrocalcinosis, Recurrent urinary tract infections, Failure to thrive in infa... |
OMIM:194050 |
| Cockayne Syndrome B |
|
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Renal in... |
OMIM:133540 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Abnormal auditory evoked potentials, Urinary retention, Abnormality of somatosensory evoked poten... |
ORPHA:99027 |
| Au-Kline Syndrome |
|
Chronic kidney disease, Dilatation of the renal pelvis, Failure to thrive, Vesicoureteral reflux,... |
OMIM:616580 |
| Infantile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... |
ORPHA:206436 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hydronephrosis, Micropenis, Hypospadias, Renal agenesis |
OMIM:301040 |
| Townes-Brocks Syndrome 1 |
|
Renal hypoplasia, Multicystic kidney dysplasia, Small for gestational age, Vesicoureteral reflux,... |
OMIM:107480 |
| Autosomal Recessive Spastic Paraplegia Type 20 |
|
Hydronephrosis, Dysuria |
ORPHA:101000 |
| Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication, Renal duplication |
OMIM:270420 |
| Von Hippel-Lindau Disease |
|
Pancreatic cysts, Elevated urinary catecholamine level, Papilledema, Multiple renal cysts, Pancre... |
ORPHA:892 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy |
OMIM:616881 |
| Granulomatosis With Polyangiitis |
|
Ureteral stenosis, Renal insufficiency, Hematuria, Proteinuria, Hydronephrosis, Glomerulopathy, W... |
ORPHA:900 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Hydroureter, Failure to thrive, Ureteral stenosis, Hydronephrosis, Micropenis, Hypospadias |
OMIM:269150 |
| Bardet-Biedl Syndrome 1 |
|
Hearing impairment, Abnormality of the ovary, Decreased testicular size, Hypogonadism, Aganglioni... |
OMIM:209900 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Absent brainstem auditory ... |
ORPHA:101085 |
| Coffin-Siris Syndrome 1 |
|
Renal hypoplasia, Hydroureter, Hydronephrosis, Ectopic kidney, Hypospadias |
OMIM:135900 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Hydronephrosis, Renal dysplasia |
OMIM:300968 |
| Thakker-Donnai Syndrome |
|
Hydronephrosis |
ORPHA:1780 |
| Familial Visceral Myopathy |
|
Vesicoureteral reflux, Hydroureter, Megacystis |
ORPHA:2604 |
| Distal Deletion 12Q |
|
Failure to thrive in infancy, Obesity, Vesicoureteral reflux, Hydronephrosis, Ectopic kidney, Mic... |
ORPHA:96149 |
| Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Hydronephrosis, Neurogenic bladder, Ureteropelvic junction obstruction, Failure to thrive |
OMIM:616973 |
| Acrorenal-Mandibular Syndrome |
|
Abnormality of the ureter, Polycystic kidney dysplasia, Renal agenesis, Aplasia of the bladder |
OMIM:200980 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hydronephrosis, Hypospadias, Male urethral meatus stenosis |
ORPHA:464738 |
| Focal Dermal Hypoplasia |
|
Horseshoe kidney, Multicystic kidney dysplasia, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:2092 |
| Cardiofaciocutaneous Syndrome 1 |
|
Hydronephrosis, Failure to thrive |
OMIM:115150 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Duplicated collecting system, Hydroureter, Ureterocele, Renal agenesis, Vesicoureteral reflux, Hy... |
OMIM:129900 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Low-set ears, Elevated circulating luteinizing hormone level, Abnormal earlobe morphology, Abnorm... |
ORPHA:95699 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
| Lacrimoauriculodentodigital Syndrome |
|
Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux |
ORPHA:2363 |
| Schwartz-Jampel Syndrome |
|
Abnormality of the urinary system, Abnormality of the ureter, Death in infancy, Decreased body we... |
ORPHA:800 |
| Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529808 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Abnormal renal collecting system morphology, Hydroureter, Unilateral renal dysplasia, Urinary bla... |
ORPHA:280633 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Hydronephrosis |
ORPHA:254528 |
| Okamoto Syndrome |
|
Urinary incontinence, Hydronephrosis, Unilateral renal hypoplasia, Ureteropelvic junction obstruc... |
ORPHA:2729 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Unilateral renal hypoplasia, Failure to thrive |
OMIM:619950 |
| Tarp Syndrome |
|
Horseshoe kidney, Hydronephrosis, Failure to thrive |
ORPHA:2886 |
| Cardiofaciocutaneous Syndrome |
|
Hydronephrosis, Failure to thrive in infancy |
ORPHA:1340 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hydronephrosis |
OMIM:614921 |
| Fraser Syndrome 1 |
|
Micropenis, Renal hypoplasia, Hypospadias, Renal hypoplasia/aplasia |
OMIM:219000 |
| Campomelic Dysplasia |
|
Hydronephrosis |
ORPHA:140 |
| Trisomy 18 |
|
Hydronephrosis, Abnormality of the upper urinary tract, Cachexia |
ORPHA:3380 |
| 7Q11.23 Microduplication Syndrome |
|
Unilateral renal agenesis, Hypospadias, Obesity, Hydronephrosis, Enuresis |
ORPHA:96121 |
| Eec Syndrome |
|
Vesicoureteral reflux, Renal hypoplasia/aplasia, Hydronephrosis, Urethral atresia, Hypospadias |
ORPHA:1896 |
| Alg9-Cdg |
|
Hypoplasia of the bladder, Abnormal renal artery morphology, Hydronephrosis, Ureteral hypoplasia,... |
ORPHA:79328 |
| 8Q24.3 Microdeletion Syndrome |
|
Unilateral renal agenesis, Bilateral renal hypoplasia, Vesicoureteral reflux, Abnormality of the ... |
ORPHA:508488 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Hydronephrosis, Multiple bladder diverticula, Death in childhood, Death in infancy |
OMIM:613177 |
| Simpson-Golabi-Behmel Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Nephroblastoma, Death in infancy, Hydronephrosis, Uret... |
ORPHA:373 |
| Castleman Disease |
|
Hematuria, Ureteral obstruction, Weight loss, Renal insufficiency |
ORPHA:160 |
| Holoprosencephaly 3 |
|
Hydronephrosis |
OMIM:142945 |
| Peters-Plus Syndrome |
|
Renal hypoplasia, Decreased body weight, Hydronephrosis, Ureteral duplication, Hypospadias |
OMIM:261540 |
| Mend Syndrome |
|
Low-set ears, Abnormal auditory evoked potentials, Cryptorchidism |
ORPHA:401973 |
| Hardikar Syndrome |
|
Hypoplasia of the bladder, Hydroureter, Failure to thrive, Recurrent urinary tract infections, Py... |
OMIM:301068 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Renal hypoplasia, Obesity, Vesicoureteral reflux, Micropenis, Hypospadias |
OMIM:309580 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hydronephrosis, Failure to thrive, Urachus fistula, Recurrent urinary tract infections |
OMIM:612541 |
| Ileal Neuroendocrine Tumor |
|
Hydronephrosis, Weight loss |
ORPHA:100078 |
| Congenital Alveolar Capillary Dysplasia |
|
Hydronephrosis |
ORPHA:210122 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Dilatation of the renal pelvis, Hydroureter, Dilatation of the bladder, Neonatal death, Hydroneph... |
OMIM:265380 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Renal hypoplasia, Hydronephrosis, Renal cyst, Hypoplasia of penis, Urethrovaginal fistula |
ORPHA:93271 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Hydronephrosis, Urethral atresia |
OMIM:271520 |
| Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Cholelithiasis, Abnormal auditory evoked potentials, Abnormal motor evoked potenti... |
ORPHA:909 |
| Occipital Horn Syndrome |
|
Hydronephrosis, Ureteral obstruction, Bladder diverticulum |
OMIM:304150 |
| Monosomy 22Q13.3 |
|
Obesity, Recurrent pyelonephritis, Vesicoureteral reflux, Hydronephrosis, Renal dysplasia |
ORPHA:48652 |
| Opitz Gbbb Syndrome |
|
Hydronephrosis, Abnormality of the urinary system, Vesicoureteral reflux, Hypospadias |
ORPHA:2745 |
| Cardiac Valvular Dysplasia 1 |
|
Hydronephrosis, Hydroureter, Urethral diverticulum |
OMIM:212093 |
| Frontometaphyseal Dysplasia |
|
Hydronephrosis, Ureteral obstruction, Urethral stenosis |
ORPHA:1826 |
| Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Ureteral duplication, Duplication of renal pelvis |
ORPHA:457212 |
| Schinzel-Giedion Syndrome |
|
Failure to thrive in infancy, Abnormality of the ureter, Nephroblastoma, Nephrolithiasis, Hydrone... |
ORPHA:798 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Hydronephrosis, Duplicated collecting system, Large for gestational age, Ureteropelvic junction o... |
OMIM:280000 |
| Scalp-Ear-Nipple Syndrome |
|
Duplication of renal pelvis, Recurrent urinary tract infections, Pyelonephritis, Abnormality of t... |
ORPHA:2036 |
| Cousin Syndrome |
|
Hydronephrosis |
OMIM:260660 |
| Knobloch Syndrome 1 |
|
Hydronephrosis, Bifid ureter, Duplicated collecting system, Renal duplication |
OMIM:267750 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Failure to thrive, Distal renal tubular acidosis, Renal tubular acidosis, Nephrolithiasis, Hydron... |
ORPHA:2785 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent urinary tract infections, Slender build, Vesicoureteral reflux, Renal duplication, Feta... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Recurrent urinary tract infections, Slender build, Vesicoureteral reflux, Renal duplication, Feta... |
ORPHA:363958 |
| Craniofacioskeletal Syndrome |
|
Hydronephrosis, Hypospadias |
OMIM:300712 |
| Diphallia |
|
Penoscrotal transposition, Renal malrotation, Horseshoe kidney, Distal urethral duplication, Rena... |
ORPHA:227 |
| Floating-Harbor Syndrome |
|
Low-set ears, Varicocele, Nephrocalcinosis, Conductive hearing impairment, Glandular hypospadias,... |
OMIM:136140 |
| Smith-Lemli-Opitz Syndrome |
|
Abnormal localization of kidney, Multicystic kidney dysplasia, Ureteropelvic junction obstruction... |
ORPHA:818 |
| Trisomy 8P |
|
Hydronephrosis, Nephrocalcinosis, Micropenis, Fetal pyelectasis |
ORPHA:264450 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hydronephrosis, Unilateral renal agenesis, Hypospadias |
ORPHA:487796 |
| Floating-Harbor Syndrome |
|
Hypospadias, Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis, Stage 5 chronic ki... |
ORPHA:2044 |
| Autosomal Recessive Robinow Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Hypoplasia of penis, Death in infancy |
ORPHA:1507 |
| Dubowitz Syndrome |
|
Hydronephrosis, Hypospadias |
ORPHA:235 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hydronephrosis, Micropenis, Hypospadias |
ORPHA:163979 |
| Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia |
ORPHA:3404 |
| Robinow Syndrome |
|
Webbed penis, Multicystic kidney dysplasia, Hydronephrosis, Micropenis, Small for gestational age |
ORPHA:97360 |
| Apert Syndrome |
|
Hydronephrosis |
OMIM:101200 |
| Charge Syndrome |
|
Renal hypoplasia, Renal agenesis, Horseshoe kidney, Hydronephrosis, Micropenis |
OMIM:214800 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Enuresis, Renal agenesis, Grade III vesicoureteral reflux, Ureteropelvic junction obstruction, Ur... |
OMIM:619522 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Nephrocalcinosis, Renal duplication, Nephrolithiasis, Hydronephrosis, Micropenis, Hypospadias |
OMIM:268310 |
| Peroxisome Biogenesis Disorder 4B |
|
Ureterocele |
OMIM:614863 |
| Nijmegen Breakage Syndrome |
|
Hydronephrosis, Recurrent urinary tract infections |
OMIM:251260 |
| Jacobsen Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Death in infancy |
ORPHA:2308 |
| Microphthalmia, Syndromic 6 |
|
Renal hypoplasia, Failure to thrive |
OMIM:607932 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Abnormality of the urinary system, Failure to thrive, Recurrent urinary tract infections, Obesity... |
ORPHA:353281 |
| Bardet-Biedl Syndrome |
|
Chronic kidney disease, Horseshoe kidney, Obesity, Vesicoureteral reflux, Hydronephrosis, Childho... |
ORPHA:110 |
| Meckel Syndrome, Type 1 |
|
Hypoplasia of the bladder, Renal agenesis, Abnormality of the ureter, Polycystic kidney dysplasia... |
OMIM:249000 |
| 3Mc Syndrome 1 |
|
Hydronephrosis |
OMIM:257920 |
| Orofaciodigital Syndrome Type 1 |
|
Proteinuria, Multicystic kidney dysplasia, Hydronephrosis, Renal insufficiency |
ORPHA:2750 |
| Gabriele-De Vries Syndrome |
|
Hydronephrosis, Ureteropelvic junction obstruction, Small for gestational age |
ORPHA:506358 |
| Chime Syndrome |
|
Hydronephrosis, Abnormality of the kidney |
ORPHA:3474 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Hydronephrosis, Vesicoureteral reflux |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Hydronephrosis, Vesicoureteral reflux |
ORPHA:352665 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... |
ORPHA:2636 |
| Orofaciodigital Syndrome Xiv |
|
Micropenis, Unilateral renal hypoplasia, Epispadias |
OMIM:615948 |
| Hydrolethalus Syndrome 1 |
|
Hydronephrosis, Hypospadias, Stillbirth |
OMIM:236680 |
| Congenital Tracheal Stenosis |
|
Abnormality of the ureter, Abnormality of the kidney |
ORPHA:141127 |
| 1P36 Deletion Syndrome |
|
Failure to thrive, Obesity, Hydronephrosis, Renal cyst, Abnormality of the kidney, Hypoplasia of ... |
ORPHA:1606 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Hydroureter, Failure to thrive, Hydronephrosis, Abnormality of the upper urinary tract, Abnormali... |
ORPHA:2273 |
| Osteogenesis Imperfecta, Type Vii |
|
Hydronephrosis, Death in infancy |
OMIM:610682 |
| Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
OMIM:600383 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hydronephrosis, Micropenis, Failure to thrive |
ORPHA:83617 |
| Campomelic Dysplasia |
|
Hydronephrosis, Hypospadias, Failure to thrive |
OMIM:114290 |
| Peters Plus Syndrome |
|
Multicystic kidney dysplasia, Renal duplication, Renal hypoplasia/aplasia, Hydronephrosis, Ureter... |
ORPHA:709 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Acute kidney injury, Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Reduced... |
OMIM:266920 |
| Rubinstein-Taybi Syndrome 1 |
|
Failure to thrive, Hydronephrosis, Truncal obesity, Hypospadias, Small for gestational age |
OMIM:180849 |
| Microphthalmia, Syndromic 1 |
|
Renal hypoplasia, Hypospadias, Hydroureter, Renal hypoplasia/aplasia |
OMIM:309800 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormality of the urinary system, Failure to thrive, Recurrent urinary tract infections, Obesity... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormality of the urinary system, Failure to thrive, Recurrent urinary tract infections, Obesity... |
ORPHA:353277 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Unilateral renal agenesis, Hydroureter, Bilateral renal agenesis |
OMIM:619194 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Hydronephrosis, Nephrotic syndrome |
OMIM:601776 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydronephrosis, Multicystic kidney dysplasia, Micropenis |
OMIM:615287 |
| Kabuki Syndrome 1 |
|
Hydronephrosis, Crossed fused renal ectopia, Ureteropelvic junction obstruction, Micropenis |
OMIM:147920 |
| Arboleda-Tham Syndrome |
|
Hydronephrosis, Recurrent urinary tract infections |
OMIM:616268 |
| Early Infantile Epileptic Encephalopathy |
|
Micropenis, Failure to thrive, Ureterocele, Renal dysplasia |
ORPHA:1934 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Hydroureter |
OMIM:610759 |
| Tetrasomy 9P |
|
Recurrent urinary tract infections, Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Micro... |
ORPHA:3310 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Dilatation of the renal pelvis, Horseshoe kidney, Vesicoureteral reflux, Death in infancy, Axial ... |
OMIM:274000 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dilatation of the renal pelvis, Failure to thrive, Hyperechogenic kidneys, Medullary nephrocalcin... |
OMIM:619534 |
| Charge Syndrome |
|
Hydronephrosis, Micropenis, Vesicoureteral reflux, Horseshoe kidney |
ORPHA:138 |
| Focal Dermal Hypoplasia |
|
Hydronephrosis, Ureteral duplication, Bifid ureter, Horseshoe kidney |
OMIM:305600 |
| Wiedemann-Rautenstrauch Syndrome |
|
Failure to thrive, Recurrent urinary tract infections, Slender build, Wide penis, Vesicoureteral ... |
ORPHA:3455 |
| Beckwith-Wiedemann Syndrome |
|
Nephropathy, Obesity, Large for gestational age, Vesicoureteral reflux, Nephroblastoma, Nephrolit... |
ORPHA:116 |
| Fanconi Anemia |
|
Abnormality of the urinary system, Hydroureter, Recurrent urinary tract infections, Renal insuffi... |
ORPHA:84 |
| Digeorge Syndrome |
|
Unilateral renal agenesis, Obesity, Renal insufficiency, Hydronephrosis, Renal dysplasia |
OMIM:188400 |
| Sotos Syndrome |
|
Renal agenesis, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction obstruction, P... |
ORPHA:821 |
| Otopalatodigital Syndrome, Type Ii |
|
Hydronephrosis, Hypospadias, Stillbirth |
OMIM:304120 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Hydronephrosis, Micropenis, Renal duplication |
OMIM:180700 |
| Chand Syndrome |
|
Hydroureter |
ORPHA:1401 |
| Liver Disease, Severe Congenital |
|
Aminoaciduria, Failure to thrive, Recurrent urinary tract infections, Hyperechogenic kidneys, Hyd... |
OMIM:619991 |
| Doors Syndrome |
|
Hydronephrosis, Nephrocalcinosis, Abnormality of the urinary system, Increased urine alpha-ketogl... |
ORPHA:79500 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hydronephrosis, Vesicoureteral reflux, Nephrolithiasis |
ORPHA:438213 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Hydronephrosis, Abnormal renal morphology, Renal hypoplasia/aplasia |
ORPHA:363700 |
| Restrictive Dermopathy 1 |
|
Ureteral duplication, Hypospadias, Stillbirth, Neonatal death |
OMIM:275210 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Low-set ears, Hearing impairment, Abnormality of the ovary, Horseshoe kidney, Recurrent otitis me... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Low-set ears, Hearing impairment, Abnormality of the ovary, Horseshoe kidney, Recurrent otitis me... |
ORPHA:99228 |
| Monosomy X |
|
Low-set ears, Hearing impairment, Abnormality of the ovary, Horseshoe kidney, Recurrent otitis me... |
ORPHA:99226 |
| Turner Syndrome |
|
Low-set ears, Hearing impairment, Abnormality of the ovary, Horseshoe kidney, Recurrent otitis me... |
ORPHA:881 |
| Johanson-Blizzard Syndrome |
|
Urethrovaginal fistula, Failure to thrive, Death in childhood, Hydronephrosis, Micropenis, Hyposp... |
OMIM:243800 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Duplication of renal pelvis, Nephroblastoma, Hydronephrosis, Renal cyst, Hypospadias, Enlarged ki... |
OMIM:312870 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Hydronephrosis |
OMIM:620330 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Hydronephrosis, Failure to thrive, Decreased body weight |
OMIM:616462 |
| Meckel Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Urethral atresia |
ORPHA:564 |
| Proboscis Lateralis |
|
Ureteral agenesis, Unilateral renal agenesis, Duplication of renal pelvis |
ORPHA:141099 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Webbed penis, Multicystic kidney dysplasia, Failure to thrive, Vesicoureteral reflux, Renal dupli... |
ORPHA:261537 |
| Mowat-Wilson Syndrome |
|
Webbed penis, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal duplication, Decreased b... |
ORPHA:2152 |
| Genitopatellar Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Micropenis |
OMIM:606170 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Hypospadias, Ureterocele |
OMIM:616734 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Glycosuria, Failure to thrive |
OMIM:600001 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication, Small for gestational age, Failure to thrive |
ORPHA:2255 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Webbed penis, Multicystic kidney dysplasia, Duplication of renal pelvis, Failure to thrive, Vesic... |
ORPHA:261552 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hydronephrosis, Renal dysplasia |
ORPHA:480880 |
| Intellectual Developmental Disorder, Autosomal Dominant 73 |
|
Hydroureter |
OMIM:620450 |
| Viss Syndrome |
|
Hydronephrosis, Failure to thrive |
OMIM:619472 |
| Restrictive Dermopathy |
|
Ureteral duplication, Hypospadias |
ORPHA:1662 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Weight loss |
ORPHA:3226 |
| Lymphedema, Primary, With Myelodysplasia |
|
Leukemia, Pancytopenia, Acute myeloid leukemia, Decreased CD4:CD8 ratio |
OMIM:614038 |
| Leukemia, Acute Myeloid |
|
Acute myeloid leukemia |
OMIM:601626 |
| Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Leukocytosis |
ORPHA:98827 |
| Myelodysplastic Syndrome |
|
|
OMIM:614286 |
