| Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Erythroid hypoplasia, 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 |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
| Diamond-Blackfan Anemia 13 |
|
Elevated red cell adenosine deaminase level, Normocytic anemia |
OMIM:615909 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia |
OMIM:618310 |
| Heinz Body Anemias |
|
Heinz body anemia, Heinz bodies, Nonspherocytic hemolytic anemia |
OMIM:140700 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:205950 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Hemoglobin D Disease |
|
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... |
ORPHA:90039 |
| Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia |
ORPHA:294 |
| Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production |
OMIM:153550 |
| Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Hydronephrosis, Duplicated collecting system |
OMIM:163850 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Hydronephrosis, Hydroureter, Ureteropelvic junction obstruction, Congenital megaureter, Renal ins... |
OMIM:143400 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypopl... |
OMIM:618270 |
| X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia |
ORPHA:2802 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydronephrosis, Abnormality of the kidney, Hydroureter, Abnormality of the urinary system, Abnorm... |
ORPHA:2838 |
| Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomeruloscleros... |
OMIM:616002 |
| Nephronophthisis |
|
Anemia |
ORPHA:655 |
| Humero-Radio-Ulnar Synostosis |
|
Abnormality of the ureter, Abnormality of the upper urinary tract |
ORPHA:3266 |
| Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
| Adenosine Triphosphatase Deficiency, Anemia Due To |
|
Nonspherocytic hemolytic anemia |
OMIM:102800 |
| 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 |
| Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
| 6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
| Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
| Glutathione Peroxidase Deficiency |
|
Heinz bodies, Compensated hemolytic anemia |
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 |
|
Anisocytosis, Poikilocytosis, Anemia of inadequate production, Oval macrocytosis |
OMIM:603529 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Anemia |
OMIM:312500 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia |
ORPHA:231393 |
| Congenital Primary Megaureter |
|
Recurrent urinary tract infections, Hydronephrosis, Microscopic hematuria, Congenital megaureter,... |
ORPHA:617 |
| Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hemolytic anemia, Splenomegaly |
OMIM:613978 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemo... |
OMIM:603902 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia |
OMIM:611283 |
| Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
| Holzgreve Syndrome |
|
Renal agenesis, Renal hypoplasia |
OMIM:236110 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Beta 2-microglobulinuria, Reduced renal corticomedullary differentiation, Renal cort... |
OMIM:611555 |
| Meier-Gorlin Syndrome 8 |
|
Unilateral renal hypoplasia, Nephroptosis, Decreased body weight |
OMIM:617564 |
| Renal Hypodysplasia/Aplasia 3 |
|
Hydronephrosis, Horseshoe kidney, Renal dysplasia, Vesicoureteral reflux, Multicystic kidney dysp... |
OMIM:617805 |
| Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
| Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
| 46,Xx Testicular Difference Of Sex Development |
|
Polycystic ovaries, Male hypogonadism, Decreased testicular size, Ambiguous genitalia |
ORPHA:393 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
| Anemia, Sideroblastic, 5 |
|
Anemia, Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia |
OMIM:619523 |
| Bardet-Biedl Syndrome 19 |
|
Hydronephrosis, Renal insufficiency, Renal hypoplasia, Obesity |
OMIM:615996 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... |
ORPHA:2133 |
| Congenital Atransferrinemia |
|
Anemia |
ORPHA:1195 |
| Eosinophilia, Familial |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
OMIM:131400 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Hypochromia, Erythroid hyperplasia, Anemia |
OMIM:206100 |
| Protoporphyria, Erythropoietic, 2 |
|
Iron deficiency anemia |
OMIM:618015 |
| Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
| 2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
| Lower Limb Malformation-Hypospadias Syndrome |
|
Abnormality of the ureter, Hypospadias |
ORPHA:2487 |
| Deafness, Autosomal Recessive 104 |
|
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:616515 |
| Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Stage 5 chronic kidney disease, Ureteropelvic junction obstruction, Unilateral renal agenesis, Ve... |
OMIM:610805 |
| Gonadoblastoma |
|
Dysgerminoma, Ambiguous genitalia, Gonadal dysgenesis with female appearance, male, Abnormality o... |
ORPHA:206484 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Hyperechogenic kidneys, Proteinuria, Renal tubular atrophy, Chronic kidney disease, Tubulointerst... |
OMIM:613092 |
| Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal cyst, Neonatal death, Renal dysplasia, Stillbirth, Ureteral agenesis, Renal hypoplasia |
OMIM:236500 |
| Erythroleukemia, Familial, Susceptibility To |
|
Anemia, Leukemia, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myeloid leukemia |
OMIM:133180 |
| Anemia, Sideroblastic, 1 |
|
Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate production, Macrocytic ... |
OMIM:300751 |
| Lessel-Kubisch Syndrome |
|
Renal insufficiency, Renal hypoplasia |
OMIM:618681 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Hydronephrosis, Abnormality of the urinary system |
ORPHA:2669 |
| Renal Hypoplasia |
|
Recurrent urinary tract infections, Hydronephrosis, Proteinuria, Abnormal renal morphology, Vesic... |
ORPHA:93101 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia |
ORPHA:32 |
| Acute Erythroid Leukemia |
|
Erythroid hypoplasia, Pancytopenia, Leukopenia, Anemia |
ORPHA:318 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Anemia |
OMIM:618313 |
| Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:230450 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia |
OMIM:166910 |
| Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydronephrosis, Hydroureter |
OMIM:264140 |
| Macdermot-Winter Syndrome |
|
Hydronephrosis, Death in infancy |
OMIM:247990 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Hydronephrosis, Abnormal renal physiology, Tubulointerstitial... |
ORPHA:93109 |
| Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Recurrent urinary tract infections, Hydronephrosis, Stage 2 chronic kidney disease, Neurogenic bl... |
OMIM:191800 |
| Immunodeficiency 16 |
|
Pancytopenia, Splenomegaly, Coombs-positive hemolytic anemia |
OMIM:615593 |
| Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:300448 |
| Diethylstilbestrol Syndrome |
|
Cryptorchidism, Micropenis, Abnormality of the uterus, Abnormal testis morphology, Hypoplasia of ... |
ORPHA:1916 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Hepatosplenomegaly, Anemia, Neonatal death |
OMIM:273680 |
| Hydrops Fetalis, Nonimmune |
|
Anemia |
OMIM:236750 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia |
OMIM:243320 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Thrombocytopenia, Anemia |
ORPHA:3319 |
| Nephronophthisis 13 |
|
Global glomerulosclerosis, Renal interstitial fibrosis, Proteinuria, Stage 5 chronic kidney disea... |
OMIM:614377 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Absent testis, Abnormal morphology of female internal genitalia, Ambig... |
ORPHA:983 |
| Hyperlysinemia, Type I |
|
Anemia |
OMIM:238700 |
| Urofacial Syndrome 1 |
|
Enuresis, Hydronephrosis, Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethr... |
OMIM:236730 |
| Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate production, Splenomegaly |
OMIM:237800 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Decreased testicular size, Hypogonadism |
ORPHA:1875 |
| Bresek Syndrome |
|
Hypoplasia of the bladder, Neonatal death, Renal dysplasia, Vesicoureteral reflux, Renal hypoplasia |
ORPHA:85284 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Anisocytosis, Reticulocytosis, Anemia, Abnormal erythrocy... |
ORPHA:766 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis, Anemia |
OMIM:608898 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Death in childhood, Failure to thrive, Aminoaciduria, Lacticaciduria, 3-Methylglutaconic aciduria... |
OMIM:604273 |
| Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis |
OMIM:274265 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Macrothrombocytopenia, Anisocytosis, Hypochromic anemia, Anemia of inadequate production, Poikilo... |
ORPHA:67044 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity |
OMIM:601382 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in childhood, Renal cyst, Renal insufficiency, Death in infancy, Neonatal death, Renal dysp... |
OMIM:614922 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Urogenital... |
ORPHA:2138 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Macrothrombocytopenia, Thrombocytopenia, Anemia |
OMIM:616176 |
| Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia, Obesity |
OMIM:600151 |
| Vesicoureteral Reflux 3 |
|
Recurrent urinary tract infections, Hydronephrosis, Grade IV vesicoureteral reflux, Hydroureter, ... |
OMIM:613674 |
| Trimethylaminuria |
|
Neutropenia, Splenomegaly, Anemia |
OMIM:602079 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Anemia, Neutropenia, Eosinophilia, Thrombocytosis, Monocytosis, Congeni... |
OMIM:202700 |
| Pernicious Anemia |
|
Megaloblastic anemia |
OMIM:170900 |
| Bone Marrow Failure Syndrome 2 |
|
Thrombocytopenia, Leukopenia, Anemia |
OMIM:615715 |
| Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Miscarriage, Stage 5 chronic kidney disease, Renal cyst, Death in infancy, Neonat... |
OMIM:613390 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis |
ORPHA:242 |
| Urofacial Syndrome 2 |
|
Enuresis, Hydronephrosis, Spastic/hyperactive bladder, Recurrent urinary tract infections, Megacy... |
OMIM:615112 |
| Tetragametic Chimerism |
|
Perineal hypospadias, Cryptorchidism, Micropenis, Ambiguous genitalia, Gonadal dysgenesis with fe... |
ORPHA:199310 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydronephrosis, Death in infancy, Hydroureter |
OMIM:618240 |
| Spherocytosis, Type 3 |
|
Spherocytosis, Hemolytic anemia |
OMIM:270970 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reticulocytosis, Hemolytic anemia, Reduced erythrocyte adenosine triphosphate concentration, Stom... |
OMIM:301083 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Acute mye... |
OMIM:619041 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Macrothrombocytopenia, Anemia, Giant platelets, Thrombocytopenia, Platelet anisocytosis |
OMIM:187800 |
| Refractory Anemia |
|
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Thrombocytopenia, Normochr... |
ORPHA:98826 |
| Renal Coloboma Syndrome |
|
Renal insufficiency, Renal dysplasia, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal ... |
ORPHA:1475 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Hinman Syndrome |
|
Enuresis, Hydronephrosis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral... |
ORPHA:84085 |
| Diamond-Blackfan Anemia 12 |
|
Elevated red cell adenosine deaminase level, Normochromic anemia, Reticulocytopenia, Macrocytic a... |
OMIM:615550 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Splenomegaly, Anemia |
OMIM:617441 |
| Vacterl Association With Hydrocephalus |
|
Stillbirth, Renal hypoplasia |
OMIM:276950 |
| Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anisocytosis, Reticulocytosis, Anemia, Anemia of inadequate production, Erythroid hyperplasia, Po... |
OMIM:615631 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia |
OMIM:618660 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Renal hypoplasia, Unilateral renal agenesis, Chronic kidney disease |
OMIM:617661 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Pyropoikilocytosis, Hereditary |
|
Microspherocytosis, Pyropoikilocytosis, Elliptocytosis, Hemolytic anemia |
OMIM:266140 |
| Split-Hand/Foot Malformation 3 |
|
Renal hypoplasia |
OMIM:246560 |
| Immunodeficiency, Common Variable, 6 |
|
Hydronephrosis, Glomerulonephritis, Stage 5 chronic kidney disease, Enlarged kidney, Macroscopic ... |
OMIM:613496 |
| Hadziselimovic Syndrome |
|
Renal hypoplasia, Failure to thrive |
OMIM:612946 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Splenomegaly |
ORPHA:846 |
| Orofaciodigital Syndrome Xvii |
|
Decreased body weight, Micropenis, Renal hypoplasia |
OMIM:617926 |
| X-Linked Intellectual Disability, Schimke Type |
|
Hydronephrosis, Failure to thrive in infancy, Vesicoureteral reflux |
ORPHA:85285 |
| Renal Dysplasia |
|
Enlarged kidney, Abnormal renal calyx morphology, Hydroureter, Abnormal nephron morphology, Multi... |
ORPHA:93108 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Micropenis, Hypospadias, Renal agenesis, Renal hypoplasia, Obesity |
ORPHA:171839 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Abnormality of the ureter, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis |
ORPHA:1046 |
| Cryohydrocytosis |
|
Stomatocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia |
OMIM:185020 |
| Iron-Refractory Iron Deficiency Anemia |
|
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis |
OMIM:206200 |
| Renal Hypoplasia, Bilateral |
|
Microscopic hematuria, Proteinuria, Small for gestational age, Glycosuria, Chronic kidney disease... |
ORPHA:97362 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Hydronephrosis, Vesicoureteral reflux, Renal hypoplasia, Failure to thrive |
OMIM:613735 |
| Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Renal dysplasia, Renal hypoplasia, Urethral obstruction, Hypertrophy of the urinary bladder |
OMIM:601389 |
| Ovalocytosis, Southeast Asian |
|
Elliptocytosis, Hemolytic anemia |
OMIM:166900 |
| Even-Plus Syndrome |
|
Recurrent urinary tract infections, Vesicoureteral reflux, Renal hypoplasia |
OMIM:616854 |
| Spherocytosis, Type 5 |
|
Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, Spherocytos... |
OMIM:612690 |
| Atransferrinemia |
|
Hypochromic anemia |
OMIM:209300 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
| Fanconi Anemia, Complementation Group G |
|
Leukemia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614082 |
| Cat-Eye Syndrome |
|
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:195 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Extramedullary hematopoiesis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia |
OMIM:615285 |
| Joubert Syndrome 22 |
|
Renal hypoplasia |
OMIM:615665 |
| Overhydrated Hereditary Stomatocytosis |
|
Anisocytosis, Reticulocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Stomatocytosis... |
ORPHA:3203 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Vesicoureteral reflux, Renal hypoplasia, Obesity |
ORPHA:464288 |
| Imerslund-Grasbeck Syndrome 2 |
|
Megaloblastic anemia |
OMIM:618882 |
| Thrombocytopenia 5 |
|
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... |
OMIM:616216 |
| Distal Duplication 6P |
|
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia |
ORPHA:1745 |
| Alagille Syndrome 2 |
|
Proteinuria, Renal cyst, Renal insufficiency, Hematuria, Renal tubular acidosis, Renal hypoplasia |
OMIM:610205 |
| Optic Atrophy 8 |
|
Prolonged somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potentials, Se... |
OMIM:616648 |
| Hepatic Adenomas, Familial |
|
Polycystic ovaries |
OMIM:142330 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydronephrosis, Megacystis, Hydroureter, Neonatal death, Fetal megacystis |
OMIM:619362 |
| Orthostatic Hypotension 2 |
|
Anemia |
OMIM:618182 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... |
ORPHA:251380 |
| Immunodeficiency 69 |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Pancytopenia, Thrombocytosis, Splenomegaly |
OMIM:618963 |
| Formiminoglutamic Aciduria |
|
Megaloblastic anemia, Anemia |
ORPHA:51208 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Urinary bladder sphincter dysfunction, Abnormal auditory evoked... |
ORPHA:320401 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis, Death in infancy |
OMIM:618845 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Polycystic ovaries, Abnormal spermatogenesis |
ORPHA:488191 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
| Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia |
OMIM:223350 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Renal hypoplasia, Hypoplasia of penis |
ORPHA:2256 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Decreased glomerular filtration rate, Tubu... |
OMIM:174000 |
| Image Syndrome |
|
Hydronephrosis, Hypospadias |
ORPHA:85173 |
| Verheij Syndrome |
|
Small for gestational age, Renal agenesis, Renal hypoplasia, Renal cyst |
OMIM:615583 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Bilateral renal agenesis, Hyperechogenic kidneys, Ureteral agenesis, Renal hypoplasia |
OMIM:617914 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly |
OMIM:224100 |
| Wolfram Syndrome, Mitochondrial Form |
|
Hydronephrosis, Hydroureter |
OMIM:598500 |
| Asplenia, Isolated Congenital |
|
Howell-Jolly bodies, Asplenia, Thrombocytosis |
OMIM:271400 |
| Prune Belly Syndrome |
|
Recurrent urinary tract infections, Abnormality of the ureter, Hydroureter, Renal insufficiency, ... |
ORPHA:2970 |
| Oligomeganephronia |
|
Proteinuria, Renal tubular atrophy, Small for gestational age, Stage 5 chronic kidney disease, De... |
ORPHA:2260 |
| Ochoa Syndrome |
|
Recurrent urinary tract infections, Hydronephrosis, Urinary incontinence, Renal insufficiency, Ur... |
ORPHA:2704 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Cenani-Lenz Syndactyly Syndrome |
|
Ectopic kidney, Renal agenesis, Renal hypoplasia |
OMIM:212780 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Hemoly... |
OMIM:616689 |
| Renal And Mullerian Duct Hypoplasia |
|
Horseshoe kidney, Anteriorly displaced urethral meatus, Renal hypoplasia |
OMIM:266810 |
| Elliptocytosis 2 |
|
Reticulocytosis, Hemolytic anemia, Elliptocytosis |
OMIM:130600 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Small for gestational age, Renal hypoplasia |
OMIM:616817 |
| Fanconi Anemia, Complementation Group I |
|
Abnormal renal morphology, Horseshoe kidney, Vesicoureteral reflux, Decreased body weight, Renal ... |
OMIM:609053 |
| Matthew-Wood Syndrome |
|
Horseshoe kidney, Vesicoureteral reflux, Renal hypoplasia, Failure to thrive |
ORPHA:2470 |
| Burn-Mckeown Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia |
OMIM:608572 |
| 8P23.1 Duplication Syndrome |
|
Hydronephrosis |
ORPHA:251076 |
| Silver-Russell Syndrome 1 |
|
Small for gestational age, Abnormality of the ureter, Urethral valve, Congenital posterior urethr... |
OMIM:180860 |
| Meckel Syndrome 12 |
|
Bilateral renal agenesis, Renal hypoplasia, Ureteral hypoplasia |
OMIM:616258 |
| Papillorenal Syndrome |
|
Absence of renal corticomedullary differentiation, Proteinuria, Stage 5 chronic kidney disease, C... |
OMIM:120330 |
| Penoscrotal Transposition |
|
Penoscrotal transposition, Abnormality of the ureter, Renal dysplasia, Abnormality of the urethra... |
ORPHA:2842 |
| Posterior Urethral Valve |
|
Recurrent urinary tract infections, Enuresis nocturna, Hydronephrosis, Unilateral renal dysplasia... |
ORPHA:93110 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Abnormality of the ureter, Obesity |
ORPHA:1035 |
| Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Anemia |
ORPHA:371 |
| Birk-Landau-Perez Syndrome |
|
Tubulointerstitial nephritis, Renal insufficiency, Failure to thrive in infancy, Stage 3 chronic ... |
OMIM:617595 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Chronic tubulointerstitial nephritis, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:614376 |
| Mungan Syndrome |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:611376 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Unilateral renal hypoplasia, Vesicoureteral reflux |
OMIM:619955 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Anemia |
ORPHA:1802 |
| Rudiger Syndrome |
|
Ovarian cyst, Micropenis, Ureterovesical stenosis, Bicornuate uterus |
OMIM:268650 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Hydronephrosis, Unilateral renal agenesis, Renal hypoplasia |
OMIM:618494 |
| Hemolytic Anemia, Congenital, X-Linked |
|
Hemolytic anemia |
OMIM:301015 |
| Ataxia-Pancytopenia Syndrome |
|
Anemia, Hypoplastic anemia, Thrombocytopenia, Pancytopenia, Acute myelomonocytic leukemia, Neutro... |
OMIM:159550 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia, Neutropenia |
OMIM:612527 |
| Orofaciodigital Syndrome Xv |
|
Hydronephrosis |
OMIM:617127 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Hemolytic anemia, Reduced platelet alpha granules, Increased RBC distribution wi... |
OMIM:314050 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Neutr... |
ORPHA:75564 |
| Adams-Oliver Syndrome 6 |
|
Renal hypoplasia |
OMIM:616589 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Increased size of the clitoris, Abnormality of the ovary, Abnormality of the ... |
ORPHA:2975 |
| Cernunnos-Xlf Deficiency |
|
Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia |
ORPHA:169079 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Ketonuria, Renal hypoplasia |
OMIM:619053 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Absence of renal corticomedullary differentiation, Decreased numbers of nephrons, Bifid ureter, M... |
OMIM:617641 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
| Cach Syndrome |
|
Renal hypoplasia |
ORPHA:135 |
| Congenital Myopathy 19 |
|
Hydronephrosis, Renal atrophy |
OMIM:618578 |
| Spherocytosis, Type 2 |
|
Reticulocytosis, Hemolytic anemia, Acanthocytosis, Spherocytosis, Splenomegaly |
OMIM:616649 |
| 12Q14 Microdeletion Syndrome |
|
Horseshoe kidney, Failure to thrive, Renal hypoplasia, Ectopic kidney |
ORPHA:94063 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Urinary retention, Abnormality of the ovary, Polycystic ovaries, Urinary incontinence, Abnormalit... |
ORPHA:2795 |
| Prune Belly Syndrome |
|
Hydronephrosis, Congenital posterior urethral valve, Hydroureter |
OMIM:100100 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Anisocytosis, Anemia, Decreased mean corpuscular volume, Hypochromia, Erythro... |
OMIM:616860 |
| Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Nephrolithiasis, Hematuria, Urolithiasis,... |
OMIM:614723 |
| 6P22 Microdeletion Syndrome |
|
Hydronephrosis |
ORPHA:251046 |
| Immunodeficiency 46 |
|
Neutropenia, Intermittent thrombocytopenia, Anemia |
OMIM:616740 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Hydronephrosis, Decreased body weight, Vesicoureteral reflux |
OMIM:618265 |
| Spherocytosis, Type 4 |
|
Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia |
OMIM:612653 |
| Ovarian Fibroma |
|
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma |
ORPHA:314473 |
| Fanconi Anemia, Complementation Group T |
|
Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia |
OMIM:616435 |
| Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Renal dysplasia, Renal insufficiency, Renal hypoplasia, Hypoplasia of penis |
ORPHA:85321 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
EEG abnormality, Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy |
OMIM:617519 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Anemia |
OMIM:614514 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Anisocytosis, Elliptocytosis, Abnormal reticulocyte morphology, Macrocytic anemia, Thrombocytopen... |
OMIM:300835 |
| Oslam Syndrome |
|
Anemia |
OMIM:165660 |
| Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia |
OMIM:618161 |
| Endove Syndrome, Limb-Brain Type |
|
Recurrent urinary tract infections, Hydronephrosis, Neurogenic bladder, Failure to thrive |
OMIM:619218 |
| Emanuel Syndrome |
|
Recurrent urinary tract infections, Micropenis, Unilateral renal agenesis, Failure to thrive, Ren... |
OMIM:609029 |
| Williams-Beuren Region Duplication Syndrome |
|
Hydronephrosis, Small for gestational age, Unilateral renal agenesis, Failure to thrive |
OMIM:609757 |
| Bor Syndrome |
|
Hydronephrosis, Ureteropelvic junction obstruction, Renal insufficiency, Renal hypoplasia/aplasia... |
ORPHA:107 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Hemolytic anemia, Anemia, Reduced hematocrit, ... |
OMIM:613673 |
| Fanconi Anemia, Complementation Group W |
|
Renal hypoplasia |
OMIM:617784 |
| Duplication Of Urethra |
|
Recurrent urinary tract infections, Micropenis, Rectourethral fistula, Epispadias, Urinary incont... |
ORPHA:237 |
| Atresia Of Urethra |
|
Recurrent urinary tract infections, Hydronephrosis, Megacystis, Hydroureter, Patent urachus, Rena... |
ORPHA:105 |
| Lesch-Nyhan Syndrome |
|
Anemia |
ORPHA:510 |
| Urban-Rogers-Meyer Syndrome |
|
Obesity, Abnormality of the ureter, Hypoplasia of penis |
ORPHA:3409 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Decreased mean corpuscular volume, Hypochromia, Poikilocytosis, Splenomegaly |
OMIM:615234 |
| Xanthinuria, Type I |
|
Xanthine nephrolithiasis, Hydronephrosis, Xanthinuria, Pyelonephritis |
OMIM:278300 |
| X-Linked Sideroblastic Anemia |
|
Splenomegaly, Anemia |
ORPHA:75563 |
| Microphthalmia, Syndromic 9 |
|
Hydronephrosis, Horseshoe kidney, Neonatal death, Renal malrotation, Pelvic kidney, Renal hypoplasia |
OMIM:601186 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Hydronephrosis, Acute kidney injury, Ureteropelvic junction obstruction, Renal insufficiency, Nep... |
ORPHA:49041 |
| Caudal Duplication Anomaly |
|
Ureteral duplication |
OMIM:607864 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal insufficiency, Proteinuria, Renal hypoplasia |
ORPHA:1307 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Renal hypoplasia |
ORPHA:75389 |
| Pallister-Hall Syndrome |
|
Hydronephrosis, Micropenis, Renal cyst, Ectopic kidney, Hydroureter, Neonatal death, Renal dyspla... |
OMIM:146510 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:266120 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Optic atrophy, Progressive sensorineural hearing impairment |
OMIM:125250 |
| Congenital Myopathy 17 |
|
Hydronephrosis, Ureteropelvic junction obstruction, Failure to thrive in infancy, Renal hypoplasia |
OMIM:618975 |
| Renal Cysts And Diabetes Syndrome |
|
Abnormal renal morphology, Proteinuria, Abnormality of the kidney, Multiple glomerular cysts, Sta... |
OMIM:137920 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Anemia of inadequate production, Ery... |
OMIM:224120 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia |
ORPHA:3204 |
| Ureter, Bifid Or Double |
|
Ureteral duplication |
OMIM:191550 |
| Rh-Null, Regulator Type |
|
Stomatocytosis, Hemolytic anemia |
OMIM:268150 |
| Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased hemoglobin, Increased red blood cell mass |
OMIM:609820 |
| Fraser Syndrome 2 |
|
Unilateral renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal agenesis, Renal hyp... |
OMIM:617666 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Hydronephrosis, Urogenital sinus anomaly, Hydroureter, Renal hypoplasia/aplasia, Abnormality of t... |
ORPHA:2973 |
| Immunodeficiency 21 |
|
Myeloid leukemia, Aplastic anemia, Anemia, Reduced natural killer cell count, Lymphopenia, B lymp... |
OMIM:614172 |
| Fanconi Anemia, Complementation Group F |
|
Vesicoureteral reflux, Microphallus, Failure to thrive, Pelvic kidney, Renal hypoplasia |
OMIM:603467 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydronephrosis, Urethral atresia, Enlarged kidney, Neonatal death |
OMIM:314390 |
| Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Cystic renal dysplasia, Hydroureter, Obesity |
OMIM:615989 |
| Elliptocytosis 1 |
|
Elliptocytosis, Splenomegaly, Hemolytic anemia |
OMIM:611804 |
| Familial Pseudohyperkalemia |
|
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
| Fanconi Anemia, Complementation Group V |
|
Thrombocytopenia, Neutropenia, Anemia |
OMIM:617243 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Persistence of hemoglobin F, Lymphopenia, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
| Ureterocele |
|
Duplicated collecting system, Ureterocele |
OMIM:191650 |
| Hereditary Xanthinuria |
|
Recurrent urinary tract infections, Hydronephrosis, Acute kidney injury, Uric acid nephrolithiasi... |
ORPHA:3467 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism |
ORPHA:2229 |
| Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Anemia |
ORPHA:100024 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hydronephrosis |
OMIM:619797 |
| Khan-Khan-Katsanis Syndrome |
|
Hydronephrosis, Renal cyst, Failure to thrive, Ureteral duplication, Vesicoureteral reflux, Renal... |
OMIM:618460 |
| Rauch-Steindl Syndrome |
|
Bilateral renal hypoplasia, Hyperechogenic kidneys, Failure to thrive, Miscarriage |
OMIM:619695 |
| Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Stage 5 chronic kidney disease, Chronic kidney disea... |
ORPHA:84081 |
| Diabetic Embryopathy |
|
Hydronephrosis, Renal hypoplasia/aplasia, Micropenis, Ureteral duplication |
ORPHA:1926 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Renal hypoplasia |
OMIM:618914 |
| Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Hydroureter, Nephrolithiasis, Vesicoureteral reflux |
OMIM:617219 |
| Emanuel Syndrome |
|
Unilateral renal agenesis, Micropenis, Renal hypoplasia, Failure to thrive |
ORPHA:96170 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:617660 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Renal hypoplasia, Renal cyst, Hypospadias |
OMIM:614091 |
| Caudal Regression Syndrome |
|
Ectopic kidney, Abnormality of the ureter, Renal insufficiency, Ureteral duplication, Vesicourete... |
ORPHA:3027 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormality of the ureter, Hypospadias |
ORPHA:2522 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Reticulocytosis, Normocytic anemia, Normochromic anemia, Nonspherocytic hemolytic anemia, Splenom... |
OMIM:235700 |
| Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Leukopenia, Reticulocytopenia, Erythroid hypoplasia |
OMIM:612528 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hydroureter, Abnormality of the upper urinary tract, Abnormality of the bladder, Hypoplasia of penis |
ORPHA:2547 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Ovarian Fibrothecoma |
|
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma, Abnormal endometrium morphology |
ORPHA:314478 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased hemoglobin concentration, Reticulocytosis, Polycythemia, Hemolytic anemia, Increased me... |
ORPHA:3202 |
| Axial Mesodermal Dysplasia Spectrum |
|
Hydronephrosis, Renal cyst, Abnormality of the ureter, Renal hypoplasia/aplasia, Abnormal localiz... |
ORPHA:1834 |
| Tetraploidy |
|
Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:3305 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia |
OMIM:616738 |
| Primary Hyperoxaluria Type 2 |
|
Recurrent urinary tract infections, Nephrocalcinosis, Ureteral obstruction, Renal insufficiency, ... |
ORPHA:93599 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Absence of renal corticomedullary differentiation, Renal hypoplasia |
OMIM:619758 |
| Desmoid Tumor |
|
Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:873 |
| Aredyld Syndrome |
|
Abnormality of the ureter, Cachexia |
ORPHA:1133 |
| Senior-Loken Syndrome 4 |
|
Anemia |
OMIM:606996 |
| Duane-Radial Ray Syndrome |
|
Hydronephrosis, Horseshoe kidney, Renal malrotation, Vesicoureteral reflux, Crossed fused renal e... |
OMIM:607323 |
| Marden-Walker Syndrome |
|
Micropenis, Renal hypoplasia, Hypospadias |
OMIM:248700 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Micropenis, Ectopic kidney, Truncal obesity, Unilateral renal agenesis, Renal hypoplasia |
OMIM:616541 |
| Exstrophy-Epispadias Complex |
|
Bladder fistula, Abnormality of the kidney, Renal duplication, Horseshoe kidney, Penoscrotal tran... |
ORPHA:322 |
| Hypouricemia, Renal, 1 |
|
Proteinuria, Acute kidney injury, Uric acid nephrolithiasis, Hyperuricosuria, Renal cortical hype... |
OMIM:220150 |
| Bladder Exstrophy |
|
Recurrent urinary tract infections, Abnormality of the ureter, Epispadias, Hypoplasia of penis, B... |
ORPHA:93930 |
| Spherocytosis, Type 1 |
|
Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia |
OMIM:182900 |
| Chromosome 17Q12 Deletion Syndrome |
|
Recurrent urinary tract infections, Hydronephrosis, Stage 5 chronic kidney disease, Hypoplasia of... |
OMIM:614527 |
| Hydatidiform Mole |
|
Anemia |
ORPHA:99927 |
| Penile Agenesis |
|
Hydronephrosis, Fetal pyelectasis, Hydroureter, Urethral fistula, Abnormality of the bladder, Abs... |
ORPHA:49 |
| Stromme Syndrome |
|
Stillbirth, Hydronephrosis, Bilateral renal hypoplasia |
OMIM:243605 |
| Von Hippel-Lindau Syndrome |
|
Tinnitus, Neoplasm of the pancreas, Pheochromocytoma, Multiple renal cysts, Papillary cystadenoma... |
OMIM:193300 |
| Joubert Syndrome 37 |
|
Hydronephrosis, Micropenis, Obesity |
OMIM:619185 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Anemia, Perimembranous ventricular septal defect, Hypertrophic cardiomyopat... |
OMIM:620135 |
| Endove Syndrome, Limb-Only Type |
|
Hydronephrosis, Vesicoureteral reflux |
OMIM:619217 |
| Wolfram Syndrome 1 |
|
Hydroureter, Neurogenic bladder, Hydronephrosis |
OMIM:222300 |
| 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 |
| Trisomy 13 |
|
Abnormality of the ureter, Hydronephrosis, Multiple renal cysts, Displacement of the urethral meatus |
ORPHA:3378 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hydronephrosis |
OMIM:620141 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Anemia |
ORPHA:2668 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Hydroureter, Fetal megacystis |
OMIM:249210 |
| Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Splenomegaly, Anemia |
ORPHA:163596 |
| Caudal Duplication |
|
Renal hypoplasia/aplasia, Abnormal penis morphology, Ureteral duplication |
ORPHA:1756 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Thrombocytopenia, Splenomegaly, Anemia |
OMIM:615085 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Hydronephrosis, Urinary bladder inflammation, Renal duplication, Renal dysplasia, Hematuria, Uret... |
ORPHA:79403 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Hearing impairment,... |
OMIM:601596 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Horseshoe kidney, Ureteral duplication, Renal agenesis, Ectopic kidney |
OMIM:602200 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Anemia, Increased mean corpuscular volume, Poikilo... |
ORPHA:98870 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... |
ORPHA:90301 |
| Recombinant Chromosome 8 Syndrome |
|
Hydronephrosis |
OMIM:179613 |
| Bone Marrow Failure Syndrome 4 |
|
Thrombocytopenia, Leukopenia, Anemia |
OMIM:618116 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Hydronephrosis |
OMIM:618060 |
| Aromatase Deficiency |
|
Ovarian cyst, Female pseudohermaphroditism, Hypergonadotropic hypogonadism |
OMIM:613546 |
| Suleiman-El-Hattab Syndrome |
|
Hydronephrosis, Failure to thrive |
OMIM:618950 |
| Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Hydronephrosis, Failure to thrive |
ORPHA:488613 |
| Lethal Congenital Contracture Syndrome 2 |
|
Hydronephrosis |
OMIM:607598 |
| Copper Deficiency, Familial Benign |
|
Anemia |
OMIM:121270 |
| Orotic Aciduria |
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Anisocytosis, Pyrimidine-responsive megaloblastic anemia, Folate-unresponsive megaloblastic anemi... |
OMIM:258900 |
| Hereditary Orotic Aciduria |
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Abnormality of the ureter, Oroticaciduria, Aminoaciduria, Orotic acid crystalluria |
ORPHA:30 |
| Abcd Syndrome |
|
Abnormal auditory evoked potentials, Total intestinal aganglionosis, Aganglionic megacolon, Heari... |
OMIM:600501 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
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Stillbirth, Renal hypoplasia, Renal cyst |
OMIM:616300 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
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Hydronephrosis, Nephrocalcinosis, Renal artery stenosis, Aminoaciduria, Renal hypoplasia |
OMIM:617913 |
| Czeizel-Losonci Syndrome |
|
Hydronephrosis, Ureteral agenesis, Congenital megaureter, Abnormality of the urinary system |
ORPHA:2437 |
| Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Congenital hypoplastic anemia, Anemia of inadequate production, Macrocytic anemia |
OMIM:105600 |
| Satoyoshi Syndrome |
|
Abnormality of the ovary, Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the u... |
ORPHA:3130 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Nephroblastoma, Renal hypoplasia |
OMIM:612918 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
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Hydronephrosis, Renal duplication, Renal dysplasia, Abnormality of the urethra, Glomerular sclero... |
ORPHA:158684 |
| Smith-Magenis Syndrome |
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Abnormality of the ureter, Failure to thrive in infancy, Renal hypoplasia/aplasia, Abnormal local... |
ORPHA:819 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i... |
OMIM:601455 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Thrombocytopenia, Refractory anemia, Leukopenia |
OMIM:231095 |
| Beta-Thalassemia |
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Abnormal hemoglobin, Anemia, Microcytic anemia, Thrombocytopenia, Splenomegaly |
ORPHA:848 |
| Bladder Exstrophy And Epispadias Complex |
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Horseshoe kidney, Epispadias, Hydroureter, Unilateral renal agenesis, Bladder exstrophy |
OMIM:600057 |
| Webb-Dattani Syndrome |
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Hydronephrosis, Neurogenic bladder, Vesicoureteral reflux, Hyposthenuria, Obesity |
OMIM:615926 |
| Tarp Syndrome |
|
Horseshoe kidney, Hydronephrosis, Failure to thrive, Neonatal death |
OMIM:311900 |
| Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
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Hydronephrosis, Renal cyst, Microphallus, Vesicoureteral reflux, Renal hypoplasia |
OMIM:618454 |
| Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
| Johanson-Blizzard Syndrome |
|
Hydronephrosis, Death in infancy, Failure to thrive, Hypoplasia of penis, Hypospadias |
ORPHA:2315 |
| Igg4-Related Aortitis |
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Hydronephrosis, Weight loss |
ORPHA:449400 |
| Pseudotrisomy 13 Syndrome |
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Renal agenesis, Micropenis, Renal hypoplasia |
OMIM:264480 |
| Distal Triplication 15Q |
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Polycystic kidney dysplasia, Hydronephrosis, Abnormality of the kidney, Dilatation of the renal p... |
ORPHA:314588 |
| Müllerian Aplasia And Hyperandrogenism |
|
