| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Increased mean cor... |
OMIM:616689 |
| Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia, Abnormal heart morphology |
DECIPHER:16 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Hypoglycemic seizures, Neon... |
ORPHA:293964 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... |
ORPHA:3202 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating fe... |
OMIM:616860 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla... |
OMIM:620044 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum... |
ORPHA:98870 |
| Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Hypercalcemia, Anemia, Hepatomegaly |
ORPHA:2123 |
| Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
| Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:615234 |
| Humero-Radio-Ulnar Synostosis |
|
Abnormality of the ureter, Abnormality of the upper urinary tract |
ORPHA:3266 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia, Anemia |
ORPHA:2668 |
| Lower Limb Malformation-Hypospadias Syndrome |
|
Low-set, posteriorly rotated ears, Macrotia, Abnormality of the ureter, Hypospadias |
ORPHA:2487 |
| Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis, Round ear |
ORPHA:1450 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Autosomal Recessive Primary Microcephaly |
|
Vesicoureteral reflux, Gray matter heterotopia, Pachygyria, Unilateral renal agenesis |
ORPHA:2512 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Stomatocytosis, Increased mean cor... |
OMIM:185000 |
| Blue Diaper Syndrome |
|
Recurrent hypoglycemia, Hyperphosphatemia, Hypercalcemia, Increased proinsulin:insulin ratio |
ORPHA:94086 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Braddock Syndrome |
|
Overfolded helix, Posteriorly rotated ears, Pulmonary fibrosis, Unilateral renal agenesis |
ORPHA:52047 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis, Lissencephaly, Chronic otitis media |
OMIM:619466 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Abnormality of the ureter, Aplasia/Hy... |
ORPHA:1046 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosp... |
OMIM:612526 |
| Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Aganglionic megacolon, Unilateral renal agenesis, Hearing impairment |
OMIM:235740 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Per... |
OMIM:612561 |
| Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis |
OMIM:618845 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... |
OMIM:617021 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
| Oligomeganephronia |
|
Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal agenesis, Glomerul... |
ORPHA:2260 |
| Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, High-frequency hearing impairment, Recurrent bronchitis, Otitis media |
OMIM:300455 |
| Bardet-Biedl Syndrome 16 |
|
Recurrent respiratory infections, Renal insufficiency, Renal agenesis, Stage 5 chronic kidney dis... |
OMIM:615993 |
| Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Dilated cardiomyopathy, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Low-set ears, Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis |
OMIM:617661 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Di... |
ORPHA:71212 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Branchiootorenal Syndrome 1 |
|
Renal malrotation, Mixed hearing impairment, Facial palsy, Unilateral renal agenesis, Dilatated i... |
OMIM:113650 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia |
OMIM:616949 |
| Alpha-Heavy Chain Disease |
|
Splenomegaly, Hypocalcemia, Anemia, Hepatomegaly |
ORPHA:100025 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoorni... |
OMIM:615751 |
| Rhabdoid Tumor |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:69077 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal lung morphology, Stillbirth, Renal agenesis |
ORPHA:294975 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
| Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Glycogen Storage Disease Vi |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
| Hypophosphatasia |
|
Hypercalcemia, Anemia |
ORPHA:436 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Unilateral renal agenesis, Lissencephaly, Low-set ears, Micropenis, ... |
OMIM:618142 |
| Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
| Renal Agenesis |
|
Renal insufficiency, Proteinuria, Renal agenesis, Unilateral renal agenesis, Ureteral agenesis, A... |
ORPHA:411709 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Conductive hearing impa... |
OMIM:616726 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:240200 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypoglycemic seizures, Neonatal... |
ORPHA:199296 |
| Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
| Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Incr... |
ORPHA:26793 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Ciliary Dyskinesia, Primary, 21 |
|
Recurrent otitis media, Atelectasis, Recurrent pneumonia, Bronchiectasis |
OMIM:615294 |
| Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen... |
ORPHA:300298 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytop... |
OMIM:613839 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Diabetes mellitus, Increased blood urea nitrogen, Anemia, Leukopenia,... |
OMIM:613845 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Conductive hearing impairment, Renal agenesis, Unilateral renal agenesis, Ectopic kidney |
OMIM:601076 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... |
ORPHA:94093 |
| Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:253240 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Sensorineural hea... |
ORPHA:2838 |
| Burn-Mckeown Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Protruding ear, Conductive hearing impairment, Heari... |
OMIM:608572 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal... |
OMIM:611590 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Hypoglycemia, Hypera... |
ORPHA:3008 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Posteriorly rotated ears, Unilateral renal agenesis, Renal hypoplasia, Low-set ears, Recurrent ot... |
OMIM:618494 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Micropenis, Macrotia, Unilateral renal agenesis |
OMIM:618504 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Lissencephaly, Unilateral renal agenesis |
ORPHA:281090 |
| Emanuel Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Unilateral renal agenesis, ... |
OMIM:609029 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
| Radial-Renal Syndrome |
|
External ear malformation, Unilateral renal agenesis, Ectopic kidney |
OMIM:179280 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Increased circulating corticosterone level, Hyperkalemia, Increased circulating ren... |
OMIM:610600 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:615872 |
| Prune Belly Syndrome |
|
Recurrent respiratory infections, Multicystic kidney dysplasia, Renal insufficiency, Hydroureter,... |
ORPHA:2970 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
| Williams-Beuren Region Duplication Syndrome |
|
Chronic otitis media, Overfolded helix, Hydronephrosis, Unilateral renal agenesis |
OMIM:609757 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypoglycemia |
OMIM:614736 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia, Pulmonic stenosis, Multiple muscular ventricular septal defects |
OMIM:615508 |
| Progressive Familial Intrahepatic Cholestasis |
|
Splenomegaly, Hypocalcemia, Hepatomegaly |
ORPHA:172 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Renal insufficiency, Renal agenesis, Thickened helices, Unilateral renal agenesis, Ectopic kidney... |
OMIM:617641 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hyponatremia, Macrocytic anemia, Decreased circulating cortisol level, Hypogly... |
ORPHA:199299 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... |
ORPHA:2457 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Hypospadias, Atelectasis, Glandular hypospadias, Neonatal death, Micropenis, Penile hypospadias |
OMIM:300219 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Micropenis, Unilateral renal agenesis, Hearing impairment |
OMIM:244200 |
| Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
| Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m... |
OMIM:277410 |
| D-Glyceric Aciduria |
|
Hyperglycinemia, Nonketotic hyperglycinemia, Increased circulating free fatty acid level |
ORPHA:941 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly |
OMIM:613977 |
| Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Increased mean corpuscul... |
ORPHA:2169 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Hypophosphatemia, Anemia |
OMIM:239200 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Ataxia, Ground-glass opacification, Atelectasis, Pulmonary infi... |
OMIM:610978 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Unilateral renal agenesis |
ORPHA:3306 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Mixed hearing impairment, Abnormality of the kidney, Unilateral renal agenesis, Sensorineural hea... |
OMIM:118100 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Unilateral renal agenesis |
OMIM:601355 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Diabetes mellitus, Anemia ... |
ORPHA:231222 |
| Coach Syndrome 1 |
|
Optic disc pallor, Ataxia, Unilateral renal agenesis, Multiple small medullary renal cysts, Stage... |
OMIM:216360 |
| Emanuel Syndrome |
|
Recurrent respiratory infections, Unilateral renal agenesis, Renal hypoplasia, Recurrent otitis m... |
ORPHA:96170 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
| Chopra-Amiel-Gordon Syndrome |
|
Unilateral renal agenesis |
OMIM:619504 |
| C1Q Deficiency 2 |
|
Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis |
OMIM:620321 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Hogue-Janssen Syndrome 2 |
|
Unilateral renal agenesis, Gait ataxia |
OMIM:616362 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Pulmonary hypoplasia, Low-set ears, ... |
OMIM:236500 |
| Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Abnormality of iron h... |
ORPHA:848 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal cortical gyration, Unilateral renal agenesis, Optic atrophy, Proximal tubulopathy, Hyper... |
OMIM:614576 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Bilateral facial palsy, Pulmonary fibrosis |
ORPHA:254361 |
| Hypercalcemia, Infantile, 1 |
|
Hypercalcemia |
OMIM:143880 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Majeed Syndrome |
|
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:609628 |
| Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
| 2P21 Microdeletion Syndrome |
|
Hypoglycemia, Hypocalcemia |
ORPHA:163693 |
| Bronchopulmonary Dysplasia |
|
Atelectasis, Abnormal lung morphology, Emphysema, Pulmonary sequestration |
ORPHA:70589 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Hypoketotic hypoglycemia, Dilated cardiomyopathy, Increased circulating free fatty acid level |
OMIM:610768 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Ataxia, Unilateral renal agenesis, Ectopic kidney, Sensorineural hearing impairment, Renal hypopl... |
OMIM:616541 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor... |
ORPHA:556037 |
| Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis |
OMIM:274265 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia |
ORPHA:223 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Leukocytosis, Abnormal heart morphology, Abnormal glucose homeostasis, Neutropenia,... |
ORPHA:391673 |
| Trisomy 13 |
|
Sensorineural hearing impairment, Abnormality of the ureter, Abnormal lung lobation, Optic atroph... |
ORPHA:3378 |
| Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... |
ORPHA:1834 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
| Bronchogenic Cyst |
|
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... |
ORPHA:2357 |
| Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-glass opac... |
ORPHA:79126 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... |
OMIM:616959 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Iron de... |
ORPHA:1667 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Posteriorly rotated ears, Unilateral renal agenesis, Low-set ears, Vesicoureteral reflux, Micrope... |
OMIM:619951 |
| Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia, Anemia |
OMIM:241500 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulati... |
OMIM:603553 |
| Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure... |
ORPHA:3027 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Hereditary Orotic Aciduria |
|
Low-set, posteriorly rotated ears, Recurrent respiratory infections, Orotic acid crystalluria, Ab... |
ORPHA:30 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Atrial septal defect, Hype... |
OMIM:620211 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Episodic hemolytic anemia, Hypercalcemia, Enlarged kidney, Increased blood urea nitrogen |
ORPHA:251004 |
| Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... |
ORPHA:86839 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor... |
ORPHA:556030 |
| Diamond-Blackfan Anemia 11 |
|
Stenosis of the external auditory canal, Atresia of the external auditory canal, Unilateral renal... |
OMIM:614900 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia, Secundum atrial septal defect, Hypoglycemia |
OMIM:608688 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Micropenis, Ataxia, Unilateral renal agenesis |
OMIM:308750 |
| Asbestos Intoxication |
|
Ground-glass opacification, Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morp... |
ORPHA:2302 |
| Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
| Shashi-Pena Syndrome |
|
Posteriorly rotated ears, Unilateral renal agenesis, Cupped ear, Low-set ears, Overfolded helix |
OMIM:617190 |
| Oculoskeletodental Syndrome |
|
Hypercalcemia, Hypocalcemia |
ORPHA:557003 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia |
OMIM:264350 |
| Nager Syndrome |
|
Low-set, posteriorly rotated ears, Unilateral renal agenesis, Microtia, Atresia of the external a... |
ORPHA:245 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Increased mean corpu... |
OMIM:612562 |
| Beaulieu-Boycott-Innes Syndrome |
|
Recurrent urinary tract infections, Unilateral renal agenesis, Horseshoe kidney |
OMIM:613680 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
| Bladder Exstrophy And Epispadias Complex |
|
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy |
OMIM:600057 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen... |
ORPHA:363444 |
| Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
| Acute Adrenal Insufficiency |
|
Normocytic anemia, Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemi... |
ORPHA:95409 |
| Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Unilateral renal agenesis |
OMIM:206750 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Fraser Syndrome 2 |
|
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl... |
OMIM:617666 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Low-set, posteriorly rotated ears, Abnormality of the ureter, Hypoplasia of the ear cartilage |
ORPHA:1035 |
| Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent urinary tract infections, Ataxia, Optic nerve hypoplasia, Unilateral renal agenesis, Pr... |
ORPHA:221139 |
| Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia |
ORPHA:446 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
| Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Abnormal urinary color, Renal neoplasm, Atelectasis, Renal angi... |
ORPHA:538 |
| Oculoskeletodental Syndrome |
|
Splenomegaly, Hypercalcemia, Hypocalcemia, Hepatomegaly |
OMIM:618440 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
| Timothy Syndrome |
|
Ventricular septal defect, Hypoglycemia, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot, Patent ... |
OMIM:601005 |
| Non-Functioning Paraganglioma |
|
Hypercalcemia |
ORPHA:94080 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
| Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Anemia |
ORPHA:79273 |
| Meconium Aspiration Syndrome |
|
Abnormal pulmonary thoracic imaging finding, Atelectasis, Pneumothorax, Aspiration pneumonia, Tra... |
ORPHA:70588 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ... |
ORPHA:244 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal erythrocyte enzyme level, Abnormal circulating porphyrin concentration, My... |
ORPHA:100924 |
| Dextrocardia |
|
Abnormal renal morphology, Abnormal lung lobation, Abnormality of the ureter, Abnormal pulmonary ... |
ORPHA:1666 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
| Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Vesicoureteral reflux, Unilateral renal agenesis |
OMIM:606408 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
| Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
| Intermediate Osteopetrosis |
|
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly |
ORPHA:210110 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... |
ORPHA:231226 |
| Takenouchi-Kosaki Syndrome |
|
Hypospadias, Posteriorly rotated ears, Unilateral renal agenesis, Ataxia, Sensorineural hearing i... |
OMIM:616737 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Low-set ears, Unilateral renal agenesis, Protruding ear |
OMIM:616603 |
| Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
| Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
| Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Sensorineural hearing impairment, Hydroureter, Hydronephrosis |
OMIM:264140 |
| Colchicine Poisoning |
|
Hyponatremia, Myocarditis, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypo... |
ORPHA:31824 |
| Addison Disease |
|
Normocytic anemia, Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemi... |
ORPHA:85138 |
| Respiratory Distress Syndrome In Premature Infants |
|
Atelectasis, Pulmonary edema |
OMIM:267450 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Micropenis, Ataxia, Unilateral renal agenesis |
OMIM:308700 |
| Monosomy 13Q34 |
|
Insulin resistance, Common atrium, Hypercalcemia, Pulmonic stenosis |
ORPHA:96168 |
| Mirage Syndrome |
|
Hyponatremia, Hypoglycemia, Hyperkalemia, Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Th... |
OMIM:617053 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Frontal polymicrogyria, Unilateral renal agenesis, Gray matter heterotopia, Neonatal death, Pachy... |
OMIM:620024 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
| Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th... |
OMIM:137920 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormal pulmonary thoracic imaging finding, Atelectasis, Hypersensitivity pneumonitis, Parenchym... |
ORPHA:2902 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Low-set ears, Renal agenesis, Unilateral renal agenesis |
OMIM:619227 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Ventricular septal defect, Pure red cell aplasia, Erythroid hypoplasia, R... |
ORPHA:124 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Posteriorly rotated ears, Renal agenesis, Unilateral renal agenesis, Low-set ears, Overfolded helix |
OMIM:608980 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Unilateral renal agenesis, Stillbirth, Pulmonary hypoplasia, Hydronephrosis, Hearing impairment |
OMIM:308050 |
| Infantile Myofibromatosis |
|
Hypercalcemia |
ORPHA:2591 |
| Diabetic Embryopathy |
|
Low-set, posteriorly rotated ears, Ureteral duplication, Renal hypoplasia/aplasia, Microtia, Micr... |
ORPHA:1926 |
| Recurrent Respiratory Papillomatosis |
|
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... |
ORPHA:60032 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Low-set, posteriorly rotated ears, Optic disc pallor, Hypospadias, Optic nerve hypoplasia, Unilat... |
ORPHA:468631 |
| Infant Acute Respiratory Distress Syndrome |
|
Respiratory tract infection, Atelectasis, Pneumonia, Pulmonary edema |
ORPHA:70587 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
| Penoscrotal Transposition |
|
Hypospadias, Renal agenesis, Abnormality of the urethra, Penoscrotal transposition, Abnormality o... |
ORPHA:2842 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... |
OMIM:619381 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
| Whipple Disease |
|
Hyponatremia, Hepatomegaly, Pericarditis, Splenomegaly, Myocarditis, Insulin resistance, Anemia |
ORPHA:3452 |
| Waardenburg Syndrome Type 3 |
|
Atelectasis, Hearing impairment |
ORPHA:896 |
| Familial Nasal Acilia |
|
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis |
ORPHA:922 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
| Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia, Cardiomyopathy |
ORPHA:35 |
| Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
| 16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Increased mean corpuscular volume, Ventricular septal defect, Thrombocyto... |
ORPHA:261250 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
| Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Aplasia/Hypoplasia of the earlobes, Abnormality of the ureter, Overfolded helix |
ORPHA:3409 |
| Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... |
OMIM:614527 |
| Peutz-Jeghers Syndrome |
|
Neoplasm of the lung, Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts |
ORPHA:2869 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormality of the ureter, Hypospadias, Low-set ears |
ORPHA:2522 |
| Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Anemia |
ORPHA:29073 |
| Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
| Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hypoglycemia, Hyperammonemia |
ORPHA:664 |
| Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
| Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia |
ORPHA:3348 |
| Snakebite Envenomation |
|
Hyponatremia, Thrombocytopenia |
ORPHA:449285 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Hyperkalemia, Anemia, Glycosuria |
ORPHA:97362 |
| Alg8-Cdg |
|
Hyponatremia, Thrombocytopenia, Anemia |
ORPHA:79325 |
| Short-Rib Thoracic Dysplasia 12 |
|
Posteriorly rotated ears, Abnormal pinna morphology, Atelectasis, Renal hypoplasia, Pulmonary hyp... |
OMIM:269860 |
| Thymic Neuroendocrine Tumor |
|
Increased circulating cortisol level, Hypercalcemia |
ORPHA:97289 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Renal hypoplasia/aplasia, Abnormality of the ureter, Microtia,... |
ORPHA:1770 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Unilateral renal agenesis |
ORPHA:1064 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Leukocytosis, Thrombocytopenia |
ORPHA:83601 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:247353 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
| Chand Syndrome |
|
Atelectasis, Hydroureter, Ataxia |
ORPHA:1401 |
| Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Sensorineural hearing impairment, Optic atrophy, Abnormal autonomic nervous system p... |
OMIM:598500 |
| Glycogen Storage Disease Ixb |
|
Splenomegaly, Hypoglycemia, Hyperuricemia, Hepatomegaly |
OMIM:261750 |
| Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concent... |
OMIM:232400 |
| Fraser Syndrome 3 |
|
Hypoplasia of the bladder, Hypoplasia of penis, Abnormal lung lobation, Ureteral agenesis, Bilate... |
OMIM:617667 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Increased circ... |
ORPHA:171876 |
| 7Q11.23 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Hypospadias, Unilateral renal agenesis, Abnormal earlobe morph... |
ORPHA:96121 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Ketotic hypoglycemia, Hyperkalemia, Hypoglyce... |
ORPHA:361 |
| Vici Syndrome |
|
Recurrent respiratory infections, Sensorineural hearing impairment, Optic atrophy, Ureteral atres... |
ORPHA:1493 |
| Silver-Russell Syndrome 1 |
|
Urethral valve, Hypospadias, Abnormality of the ureter, Congenital posterior urethral valve, Neph... |
OMIM:180860 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Optic disc pallor, Hydroureter, Hydronephrosis |
OMIM:618240 |
| Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un... |
OMIM:270400 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop... |
OMIM:127550 |
| Neurofaciodigitorenal Syndrome |
|
Unilateral renal agenesis, External ear malformation, Abnormal antitragus morphology, Abnormal tr... |
ORPHA:2673 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia |
ORPHA:163596 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Abnormality of the blad... |
ORPHA:2547 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... |
OMIM:618278 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Low-set, posteriorly rotated ears, Abnormality of the ureter, Hypospadias, Anomalous pulmonary ve... |
ORPHA:2311 |
| Cholera |
|
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia |
ORPHA:173 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level |
OMIM:214700 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Hypospadias, Unilateral renal agenesis, Abnormality of neuronal migration, Ren... |
ORPHA:464311 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Hypoglycemia, Hyperammonemia, Elevated circulating suberic acid concent... |
OMIM:615160 |
| Vipoma |
|
Hepatomegaly, Diabetes mellitus, Hypercalcemia, Normochromic anemia, Hypokalemia, Increased circu... |
ORPHA:97282 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Anemia, Hypomagnesemia |
OMIM:175500 |
| Somatostatinoma |
|
Hepatomegaly, Diabetes mellitus, Hypercalcemia, Hypochromic microcytic anemia, Increased circulat... |
ORPHA:97283 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Low-set, posteriorly rotated ears, Hypospadias, Unilateral renal agenesis, Optic atrophy, Total a... |
ORPHA:487796 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
| Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Hypocalcemia, Anemia |
ORPHA:53 |
| Glucagonoma |
|
Hepatomegaly, Diabetes mellitus, Hypercalcemia, Acanthocytosis, Normochromic anemia, Increased ci... |
ORPHA:97280 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Attached earlobe, Hydroureter, Posteriorly rotated ears, Unilateral renal agenesis, Prominent cru... |
OMIM:619194 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Hypoglycemia, Elevated circulating creatinine concentration, Increase... |
OMIM:617872 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Renal hypoplasia, Simplified gyral pattern, Microlissencephaly, Ureteral ... |
OMIM:617914 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
| Autosomal Dominant Cutis Laxa |
|
Unilateral renal agenesis, Bronchiectasis, Pyelonephritis, Protruding ear, Bladder diverticulum, ... |
ORPHA:90348 |
| Multiple Endocrine Neoplasia, Type I |
|
Increased circulating cortisol level, Hypoglycemia, Hypercalcemia |
OMIM:131100 |
| Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Anemia, Hypomagnesemia |
OMIM:244460 |
| Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Abnormality of the kidney, Horseshoe kidney, Unilateral renal agenesis, Ectopic kidney |
ORPHA:3109 |
| Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia |
OMIM:602080 |
| Aredyld Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal tragus morphology, Abnormality of the ureter |
ORPHA:1133 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Recurrent respiratory infections, Macrotia, Abnormality of the ureter, Protruding ear |
ORPHA:3253 |
| Legionnaires Disease |
|
Hyponatremia, Pericarditis, Splenomegaly, Myocarditis, Endocarditis, Lymphopenia |
ORPHA:549 |
| Czeizel-Losonci Syndrome |
|
Low-set, posteriorly rotated ears, Ureteral agenesis, Abnormality of the urinary system, Congenit... |
ORPHA:2437 |
| Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Pericardial effusion, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased p... |
ORPHA:90362 |
| Cockayne Syndrome Type 3 |
|
Optic disc pallor, Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesi... |
ORPHA:90324 |
| Alagille Syndrome |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Protruding ear, Nephrotic syndrome, Peripher... |
ORPHA:52 |
| Shigellosis |
|
Hyponatremia, Hypoglycemia, Myocarditis, Leukocytosis, Abnormal blood ion concentration, Microang... |
ORPHA:810 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... |
OMIM:105650 |
| Hyperparathyroidism, Transient Neonatal |
|
Low-set ears, Enlarged kidney, Unilateral renal agenesis |
OMIM:618188 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Polycystic kidney dysplasia, Ves... |
ORPHA:2237 |
| Schizophrenia 1 |
|
Partially duplicated kidney, Protruding ear, Renal agenesis, Ectopic kidney |
OMIM:181510 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Atelectasis, Bronchiectasis, Conductive hearing impairment, Chronic otitis media, Recu... |
OMIM:244400 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... |
ORPHA:90038 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Hypoalbuminemia, Hypocalcemia, Hypomagn... |
OMIM:618183 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Methylmalonic aciduria, Unilateral renal agenesis |
ORPHA:79284 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
| Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Renal hypoplasia, Microtia, Anotia, Low-set ears, Micropenis |
OMIM:614083 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia |
OMIM:259700 |
| Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Posteriorly rotated ears, Underdeveloped antitragus, Unilateral renal agenes... |
OMIM:181270 |
| Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Urethral valve, Hydroureter, Urethral obstruction, Enuresis, ... |
OMIM:236730 |
| Pituitary Apoplexy |
|
Hyponatremia, Normochromic anemia, Increased circulating cortisol level, Hypoglycemia |
ORPHA:95613 |
| Zttk Syndrome |
|
Unilateral lung agenesis, Polyuria, Unilateral renal agenesis, Optic atrophy, Horseshoe kidney, P... |
OMIM:617140 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Optic atrophy, Unilateral renal agenesis, Hearing impairment |
OMIM:101800 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
| Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia, Neonatal hypoglycemia |
OMIM:606407 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia |
OMIM:620157 |
| Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Mixed hearing impairment, Unilateral renal agenesis, Sensorineural hea... |
OMIM:620305 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Posteriorly rotated ears, Unilateral renal agenesis, Low-set ears, Recurrent sinusitis, Recurrent... |
OMIM:213980 |
| Matthew-Wood Syndrome |
|
Abnormal lung morphology, Renal hypoplasia, Horseshoe kidney, Pulmonary hypoplasia, Low-set ears,... |
ORPHA:2470 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Complete atrioventricular canal defect, Hypercalcemia |
ORPHA:476126 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Multiple bladder diverticula, Emphysema, ... |
OMIM:613177 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
| Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Hyponatremia, Pancytopenia, Hypertriglyceridemia, Pericardial effu... |
ORPHA:167 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Ground-glass opacification, Atelectasis, Abnormal pulmonary interstitial morphology, Bronchiectas... |
OMIM:620233 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Optic disc pallor, Hypospadias, Unilateral renal agenesis, Macrotia, Renal cyst, Protruding ear, ... |
ORPHA:464306 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia, Anemia |
OMIM:618182 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
| Smith-Magenis Syndrome |
|
Renal hypoplasia/aplasia, Impaired pain sensation, Abnormality of the ureter, Abnormal localizati... |
ORPHA:819 |
| Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Unilateral renal agenesis, Persistent cloaca |
OMIM:615709 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypoglycemia |
ORPHA:90790 |
| Porphyria Variegata |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Anemia |
ORPHA:79473 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... |
OMIM:620135 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Renal agenesis, Renal dysplasia, Hearing impairment, Ectopic kidney |
ORPHA:2578 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia, Abnormal heart morphology, Atrial septal defect, Restrictive... |
ORPHA:369837 |
| X-Linked Agammaglobulinemia |
|
Thrombocytopenia, Hypocalcemia, Anemia, Neutropenia |
ORPHA:47 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia |
ORPHA:276621 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hypospadias, Abnormal pinna morphology, Unilateral renal agenesis, Conductive hearing impairment,... |
ORPHA:95699 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hypoglycemia, Hyperuricemia |
ORPHA:364 |
| Vesicoureteral Reflux 3 |
|
Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Hydroureter, Grade III vesico... |
OMIM:613674 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin lev... |
ORPHA:90791 |
| Serkal Syndrome |
|
Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Hypospadias, Pulmonary hypo... |
ORPHA:139466 |
| Ellis Van Creveld Syndrome |
|
Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Epispadias, Abnorm... |
ORPHA:289 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Posteriorly rotated ears, Unilateral renal agenesis, Sensorineural hearing impairment, Low-set ea... |
OMIM:618419 |
| Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
ORPHA:36913 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Chronic otitis media, Atelectasis, Recurrent respiratory infections |
ORPHA:2314 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618839 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618835 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Decreased circulating cortisol level |
OMIM:300200 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Severe B lymphocytopenia, Autoimmune thromboc... |
ORPHA:293978 |
| Fibrous Dysplasia Of Bone |
|
Increased circulating cortisol level, Diabetes mellitus, Hypercalcemia, Hypophosphatemia |
ORPHA:249 |
| Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
| Alg12-Cdg |
|
Hyponatremia, Muscular ventricular septal defect, Biventricular hypertrophy, Recurrent hypoglycem... |
ORPHA:79324 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Posteriorly rotated ears, Ureteral hypoplasia, Bladder tra... |
OMIM:614080 |
| Mullerian Aplasia And Hyperandrogenism |
|
Unilateral renal agenesis |
OMIM:158330 |
| Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Ureteral stenosis, Pneumothorax, Abnormal pulmonary artery morp... |
ORPHA:2257 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism |
OMIM:613090 |
| Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
| Lujo Hemorrhagic Fever |
|
Atelectasis, Renal insufficiency, Microscopic hematuria, Oliguria |
ORPHA:319213 |
| Glycogen Storage Disease Ixc |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Fasting hypoglycemia |
OMIM:613027 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplenism, Vacuolated lymphocytes... |
ORPHA:275761 |
| Eisenmenger Syndrome |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating C-reactive protein concentration, H... |
ORPHA:97214 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia |
OMIM:617913 |
| Adenohypophysitis |
|
Hyponatremia, Normochromic anemia, Decreased circulating cortisol level |
ORPHA:95512 |
| Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormality of ... |
OMIM:231100 |
| Whim Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract infections... |
ORPHA:51636 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, Hy... |
OMIM:601678 |
| Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Vesicoureteral reflux, Hydroureter, Nephrolithiasis |
OMIM:617219 |
| Zygomycosis |
|
Renal insufficiency, Atelectasis, Pneumothorax, Pulmonary infiltrates, Acute infectious pneumonia... |
ORPHA:73263 |
| 8Q24.3 Microdeletion Syndrome |
|
Posteriorly rotated ears, Abnormality of the kidney, Unilateral renal agenesis, Asymmetry of the ... |
ORPHA:508488 |
| Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
| Cockayne Syndrome |
|
High-frequency sensorineural hearing impairment, Optic disc pallor, Neurogenic bladder, Renal ins... |
ORPHA:191 |
| Relapsing Polychondritis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Chondritis of pinna, Atelectasis, Vertigo, Sens... |
ORPHA:728 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Hypokalemi... |
ORPHA:411634 |
| Congenital Tracheal Stenosis |
|
Abnormality of the kidney, Abnormal lung morphology, Abnormal lung lobation, Abnormality of the u... |
ORPHA:141127 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Optic nerve hypoplasia, Bilateral renal dysplasia, Unilateral renal age... |
ORPHA:500150 |
| Acrofacial Dysostosis 1, Nager Type |
|
Aganglionic megacolon, Posteriorly rotated ears, Unilateral renal agenesis, Atresia of the extern... |
OMIM:154400 |
| Leopard Syndrome 1 |
|
Hypospadias, Posteriorly rotated ears, Unilateral renal agenesis, Sensorineural hearing impairmen... |
OMIM:151100 |
| Acrorenal-Mandibular Syndrome |
|
Renal agenesis, Posteriorly rotated ears, Abnormality of the ureter, Aplasia of the bladder, Pulm... |
OMIM:200980 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Cardiomegaly, Splenomegaly, Increased circulating ferritin conce... |
OMIM:235200 |
| Trisomy 20P |
|
Low-set, posteriorly rotated ears, Hypospadias, Abnormality of the kidney, Abnormality of the ure... |
ORPHA:261318 |
| Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Posteriorly rotated ears, Fetal pyelectasis, Bilateral renal... |
ORPHA:49 |
| Pheochromocytoma |
|
Hypercalcemia |
OMIM:171300 |
| Sheehan Syndrome |
|
Hyponatremia, Normochromic anemia, Decreased circulating cortisol level, Hypoglycemia |
ORPHA:91355 |
| Panhypophysitis |
|
Hyponatremia, Normochromic anemia, Decreased circulating cortisol level |
ORPHA:95513 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
| Renal Hypodysplasia/Aplasia 1 |
|
Proteinuria, Bilateral renal agenesis, Pulmonary hypoplasia, Low-set ears, Renal dysplasia |
OMIM:191830 |
| Wolfram Syndrome 1 |
|
Neurogenic bladder, Hydroureter, Ataxia, Sensorineural hearing impairment, Optic atrophy, Hydrone... |
OMIM:222300 |
| Digeorge Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Atelectasis, Recurrent pneumonia... |
OMIM:188400 |
| Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ... |
ORPHA:85451 |
| Mandibulofacial Dysostosis With Alopecia |
|
Hydroureter, Cupped ear, Protruding ear, Microtia, Low-set ears, Conductive hearing impairment, S... |
OMIM:616367 |
| Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Iron deficiency anemia, Hypocalcemia, Steatorrhea, Type I diabetes mellitus, T... |
OMIM:212750 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Diabetes mellitus, Myocarditis, Leukocytosis, Hyperkalemia, Hypoc... |
ORPHA:544482 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... |
OMIM:255120 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypoplasia of the bladder, Hypospadias, Renal agenesis, Pulmonary artery stenosis, Bilateral lung... |
OMIM:611812 |
| Farber Disease |
|
Diffuse reticular or finely nodular infiltrations, Atelectasis, Recurrent upper respiratory tract... |
ORPHA:333 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Low-set, posteriorly rotated ears, Recurrent respiratory infections, Renal insufficiency, Glomeru... |
ORPHA:534 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Renal neoplasm, Mixed hearing impairment, Posteriorly rotated ears, Repeated pneumothoraces, Atel... |
ORPHA:536467 |
| Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic... |
OMIM:259720 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia |
ORPHA:29072 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Unilateral renal agenesis, Optic disc coloboma, Protruding ear, Abnormal antihelix morphology, Lo... |
ORPHA:261337 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia, Unilateral renal agenesis |
ORPHA:457284 |
| Bladder Exstrophy |
|
Hypoplasia of penis, Recurrent urinary tract infections, Epispadias, Abnormality of the ureter, V... |
ORPHA:93930 |
| Caudal Duplication Anomaly |
|
Ureteral duplication |
OMIM:607864 |
| Double Outlet Right Ventricle |
|
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Hypocalcemia, P... |
ORPHA:3426 |
| 22Q11.2 Deletion Syndrome |
|
Hypospadias, Aganglionic megacolon, Atelectasis, Conductive hearing impairment, Abnormal lung lob... |
ORPHA:567 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Facial palsy, Atelectasis, Lissencephaly, Recurrent lower respiratory tract infections, Pachygyria |
ORPHA:258 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Recurrent urinary tract infections, Hypospadias, Ataxia, Unilateral renal agenesis, Dilatation of... |
ORPHA:268261 |
| Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia |
OMIM:612462 |
| Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Hypospadias, Aganglionic megacolon, Epispadias, Abnormality of the ure... |
ORPHA:3339 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hypercalcemia, Fasting hyperinsulinemia, Increased circulating cortisol level, Hyperinsulinemic h... |
ORPHA:276152 |
| Meckel Syndrome 12 |
|
Ureteral hypoplasia, Bilateral renal agenesis, Renal hypoplasia, Low-set ears |
OMIM:616258 |
| Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
| Castleman Disease |
|
Elevated circulating C-reactive protein concentration, Anemia, Decreased mean corpuscular volume,... |
ORPHA:160 |
| Caudal Duplication |
|
Abnormal penis morphology, Ureteral duplication, Renal hypoplasia/aplasia |
ORPHA:1756 |
| Infant Botulism |
|
Hyponatremia |
ORPHA:178478 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hypomagnesemia, Neutropen... |
ORPHA:37042 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Left ventricular hypertrophy, Cardiomyopathy, Hypocalcemia, Hypoketotic hypoglycemia |
ORPHA:746 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia, Mitral valve prolapse |
ORPHA:1563 |
| Ureter, Bifid Or Double |
|
Ureteral duplication |
OMIM:191550 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ureteral duplication, Renal agenesis, Horseshoe kidney, Ectopic kidney |
OMIM:602200 |
| Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Hypospadias, Abnormal optic disc morphology, Low-set ears, Micropenis, Hear... |
OMIM:617516 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hepatomegaly, Elevated circulating creatine kinase concentration, Dilated cardiomyo... |
OMIM:610505 |
| Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia |
OMIM:127000 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory tract infection, Atelectasis, Hearing impairment, Oligosacchariduria |
ORPHA:365 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Aganglionic... |
OMIM:308205 |
| Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Hepatomegaly, Diabetes mellitus, Splenomegaly, Hypomagnesemia, Ste... |
ORPHA:699 |
| Ppoma |
|
Hepatomegaly, Increased circulating cortisol level, Hypercalcemia |
ORPHA:97278 |
| Pallister-Hall Syndrome |
|
Renal dysplasia, Hydroureter, Posteriorly rotated ears, Distal urethral duplication, Ectopic kidn... |
OMIM:146510 |
| Vacterl/Vater Association |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias... |
ORPHA:887 |
| Proboscis Lateralis |
|
Optic nerve hypoplasia, Unilateral renal agenesis, Optic disc coloboma, Ureteral agenesis, Duplic... |
ORPHA:141099 |
| Pallister-Hall Syndrome |
|
Low-set, posteriorly rotated ears, Hypospadias, Unilateral renal agenesis, Ectopic kidney, Abnorm... |
ORPHA:672 |
| Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Ataxia, Hypercalciuria, Renal cyst, Nephrocalcinosis, Low-set ears |
OMIM:615398 |
| Zollinger-Ellison Syndrome |
|
Increased circulating cortisol level, Increased glucagon level, Hypercalcemia |
ORPHA:913 |
| Baller-Gerold Syndrome |
|
Conductive hearing impairment, Abnormality of the ureter, Abnormal localization of kidney, Vesico... |
ORPHA:1225 |
| Liver Disease, Severe Congenital |
|
Cardiomegaly, Leukopenia, Lymphocytosis, Hypocalcemia, Elevated hepatic iron concentration, Atria... |
OMIM:619991 |
| Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Conotruncal defect, Hypocalcemia, A... |
ORPHA:2306 |
| Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... |
OMIM:220150 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Hypocalcemia |
OMIM:602361 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Patent foramen ovale, Hypocalcemia, Hypoglycemia |
OMIM:607143 |
| Codas Syndrome |
|
Crumpled ear, Overfolded helix, Hydroureter, Sensorineural hearing impairment |
ORPHA:1458 |
| Rabin-Pappas Syndrome |
|
Hyponatremia |
OMIM:620155 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Abnormal circulating cholestero... |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Abnormal circulating cholestero... |
ORPHA:289548 |
| Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Hepatomegaly, Diabetes mellitus, Splenomegaly, Reduced blood urea nitrogen, Hypopho... |
OMIM:219800 |
| Grfoma |
|
Hepatomegaly, Increased circulating cortisol level, Hypercalcemia |
ORPHA:97261 |
| Holoprosencephaly |
|
Hyponatremia, Diabetes mellitus, Ventricular septal defect, Abnormal pulmonary valve morphology, ... |
ORPHA:2162 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
| Schinzel-Giedion Syndrome |
|
Abnormality of the stapes, Hypospadias, Nephroblastoma, Aganglionic megacolon, Recurrent pneumoni... |
ORPHA:798 |
| Prune Belly Syndrome |
|
Hydroureter, Congenital posterior urethral valve, Hydronephrosis |
OMIM:100100 |
| Igg4-Related Kidney Disease |
|
Renal insufficiency, Proteinuria, Ureteral obstruction, Urinary bladder inflammation, Abnormal lu... |
ORPHA:449395 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
OMIM:264700 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Ureteral atresia, Stage 5 chronic kidney disease, Pulmonary hypoplasia, Poly... |
OMIM:208540 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hypocalcemia, Hypoproteinemia |
OMIM:235255 |
| Mckusick-Kaufman Syndrome |
|
Hydroureter, Aganglionic megacolon, Pulmonary hypoplasia, Polycystic kidney dysplasia, Vesicovagi... |
OMIM:236700 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Hydroureter, Fetal megacystis |
OMIM:249210 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Glycosuria, Hypophosphatemia |
OMIM:616026 |
| Ureterocele |
|
Duplicated collecting system, Ureterocele |
OMIM:191650 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Posteriorly rotated ears, Long-chain ... |
OMIM:608836 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Pericardial effusion, Dilated cardiomyopathy, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia, H... |
ORPHA:73224 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99880 |
| Gitelman Syndrome |
|
Maternal diabetes, Pericardial effusion, Insulin resistance, Hypermagnesemia, Iron deficiency ane... |
ORPHA:358 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Lop ear, Low-set ears, Vesicoureteral reflux, Crossed fus... |
OMIM:300707 |
| Raine Syndrome |
|
Mixed hearing impairment, Hydroureter, Posteriorly rotated ears, Abnormal pinna morphology, Protr... |
OMIM:259775 |
| Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Myocarditis, Elevated circulating creatinine ... |
ORPHA:36234 |
| Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94089 |
| Parathyroid Carcinoma |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:143 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypoprot... |
ORPHA:1655 |
| Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br... |
OMIM:615067 |
| Japanese Encephalitis |
|
Hyponatremia, Neutrophilia |
ORPHA:79139 |
| Exstrophy-Epispadias Complex |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the k... |
ORPHA:322 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism |
OMIM:602522 |
| Microphthalmia, Lenz Type |
|
Low-set, posteriorly rotated ears, Hydroureter, Hypospadias, Renal hypoplasia/aplasia, External e... |
ORPHA:568 |
| Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Chylothorax, Pleural effu... |
ORPHA:3015 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| 17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureterocele, Hearing... |
ORPHA:261265 |
| Peroxisome Biogenesis Disorder 4B |
|
Ataxia, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic atrophy, Ure... |
OMIM:614863 |
| Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, ... |
ORPHA:89938 |
| Sarcoidosis |
|
Hemolytic anemia, Hepatomegaly, Eosinophilia, Hypercalcemia, Increased T cell count, Anemia, Leuk... |
ORPHA:797 |
| Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication, Optic disc coloboma, Low-set ears, Renal duplication |
OMIM:270420 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Abnormality of the urethra, Aplasia of the bladder, Abnormality of the urinary s... |
ORPHA:158684 |
| Williams Syndrome |
|
Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Hypercalcemia, Elevated... |
ORPHA:904 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Renal insufficiency, Renal agenesis, Ectopic kidney, Pulmonary artery stenosis, Horseshoe kidney,... |
ORPHA:140952 |
| Noonan Syndrome 4 |
|
Ureteral duplication, Posteriorly rotated ears, Low-set ears, Thickened helices, Hydronephrosis |
OMIM:610733 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Type I diabetes mellitus, Hypoglycemia, Elevated hemoglobin A1c |
OMIM:616113 |
| Otopalatodigital Syndrome Type 2 |
|
Hypospadias, Abnormal pinna morphology, Ureteral obstruction, Pulmonary hypoplasia, Low-set ears,... |
ORPHA:90652 |
| Meckel Syndrome, Type 1 |
|
Hypoplasia of the bladder, Renal agenesis, Abnormality of the ureter, Pulmonary hypoplasia, Polyc... |
OMIM:249000 |
| Cat Eye Syndrome |
|
Renal agenesis, Horseshoe kidney, Total anomalous pulmonary venous return, Low-set ears, Vesicour... |
OMIM:115470 |
| Familial Dysautonomia |
|
Hyponatremia |
ORPHA:1764 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypospadias, Ataxia, Sensorineural hearing impairment, Urolithiasis, Hyperur... |
OMIM:300661 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
ORPHA:289157 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hydroureter, Overfolded helix, Hypertrophy of the urinary bladder, Unilateral renal dysplasia, La... |
ORPHA:280633 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Hydroureter, Recu... |
ORPHA:79404 |
| Granulomatous Disease, Chronic, X-Linked |
|
Atelectasis, Pleural effusion, Recurrent pneumonia, Air bronchogram |
OMIM:306400 |
| Oncogenic Osteomalacia |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
| Koolen-De Vries Syndrome |
|
Ureteral duplication, Hypospadias, Protruding ear, Vesicoureteral reflux, Overfolded helix, Hydro... |
ORPHA:96169 |
| Cloacal Exstrophy |
|
Hypoplasia of penis, Hydroureter, Ectopic kidney, Renal hypoplasia/aplasia, Horseshoe kidney, Ure... |
ORPHA:93929 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
| Familial Visceral Myopathy |
|
Low-set, posteriorly rotated ears, Hydroureter, Aganglionic megacolon, Megacystis, Vesicoureteral... |
ORPHA:2604 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydroureter, Abnormality of the upper urinary tract, Polymicrogyria, Optic disc coloboma, Macrogy... |
ORPHA:2995 |
| Multiple Endocrine Neoplasia Type 2 |
|
Hypercalcemia |
ORPHA:653 |
| Noonan Syndrome 9 |
|
Hydroureter |
OMIM:616559 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Anemia, Hypocalcemia, Hyperbilirubinemia, Atrial septal defect, Thromb... |
ORPHA:163979 |
| Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi... |
ORPHA:105 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
D-2-hydroxyglutaric aciduria, Macrotia, Recurrent pneumonia, Unilateral renal agenesis |
ORPHA:99646 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis |
OMIM:619362 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Congenital Horner syndrome, Unilateral renal agenesis, Macrotia, Urinary urgency, Recurrent otiti... |
OMIM:619503 |
| Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
| Acute Intermittent Porphyria |
|
Hyponatremia |
ORPHA:79276 |
| Williams-Beuren Syndrome |
|
Diabetes mellitus, Bicuspid aortic valve, Hypercalcemia, Ventricular septal defect, Mitral valve ... |
OMIM:194050 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Myocardial necrosis, Steatorrhea, Persistence... |
OMIM:260400 |
| Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
| Fryns Syndrome |
|
Ureteral duplication, Hypospadias, Renal agenesis, Aganglionic megacolon, Renal cyst, Stillbirth,... |
OMIM:229850 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Abnormal pulmonary valve morphology, Splenomegaly, Hypocalcemia, Hypophosphatemia, ... |
ORPHA:667 |
| Multiple Endocrine Neoplasia Type 1 |
|
Primary hypercortisolism, Increased circulating cortisol level, Hypercalcemia |
ORPHA:652 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Increased serum bile acid concentr... |
ORPHA:731 |
| Carpenter Syndrome 1 |
|
Hydroureter, Abnormal pinna morphology, Sensorineural hearing impairment, Optic atrophy, Low-set ... |
OMIM:201000 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Underdevelop... |
ORPHA:2036 |
| Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Cardiomyopathy, Abnormal cardiac septum morphology, Hypocalcemia, Neutropenia, Anemia |
ORPHA:175 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Anemia, Leukopeni... |
ORPHA:2785 |
| Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Inc... |
OMIM:603903 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia |
OMIM:618476 |
| Peutz-Jeghers Syndrome |
|
Abnormality of the ureter, Bladder polyp |
OMIM:175200 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Atrial septal defect, Ventricular septal defect |
OMIM:619769 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia |
OMIM:618252 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia |
OMIM:618426 |
| Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:79444 |
| Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperlipidemia, Hyperkalemia, Hyperglycemia |
ORPHA:293987 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Renal dysplasia, Urinary bladder inflammation, Hematuria, Aplasia of the blad... |
ORPHA:79403 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Hypospadias, Pulmonary artery stenosis, Partial anomalous pulmonary venous return, A... |
OMIM:265380 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin |
ORPHA:423479 |
| Alg9-Cdg |
|
Low-set, posteriorly rotated ears, Hypoplasia of the bladder, Ureteral hypoplasia, Abnormal lung ... |
ORPHA:79328 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Renal dysplasia, Recurrent respiratory infections, Duplicated collecting system, Hydroureter, Ren... |
OMIM:129900 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pancytopenia, Hypoglycemia, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia, Anemia |
OMIM:613658 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Recurrent respiratory infections, Ureteral duplication, Posteriorly rotated ears, Ataxia, Stage 5... |
OMIM:266920 |
| Schwartz-Jampel Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of the ureter, Nephrolithiasis, Abnormality of the... |
ORPHA:800 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypochloremia, Neonatal hypogly... |
ORPHA:90794 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Bilateral trilobed lung, Ureteral duplication, Ureteral stenosis, Partial anomalous pulmonary ven... |
OMIM:270100 |
| Sotos Syndrome |
|
Ventricular septal defect, Hypercalcemia, Abnormal heart morphology, Acute lymphoblastic leukemia... |
ORPHA:821 |
| Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
| Lead Poisoning |
|
Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol... |
ORPHA:330015 |
| Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Sensorineural hearing impairment, Renal hypoplasia, Renal cyst, Vesicourete... |
OMIM:618460 |
| Velocardiofacial Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Hypocalcemia |
OMIM:192430 |
| Renal Agenesis, Bilateral |
|
Renal agenesis, Pulmonary hypoplasia, Low-set ears |
ORPHA:1848 |
| Thoracoabdominal Syndrome |
|
Renal agenesis, Hypospadias, Pulmonary hypoplasia |
OMIM:313850 |
| Tetraamelia Syndrome 1 |
|
Renal agenesis, Peripheral pulmonary vessel aplasia, Urethral atresia, Pulmonary hypoplasia, Low-... |
OMIM:273395 |
| Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:79443 |
| Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Duplication of renal pelvis, Ureteral duplication, Macrotia |
ORPHA:457212 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Megacystis, Hydronephrosis |
OMIM:619431 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Craniofacioskeletal Syndrome |
|
Atrial septal defect, Ventricular septal defect, Hypocalcemia |
OMIM:300712 |
| Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
| Ethylene Glycol Poisoning |
|
Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
| Hennekam Syndrome |
|
Pericardial effusion, Splenomegaly, Lymphopenia, Hypocalcemia |
ORPHA:2136 |
| Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... |
ORPHA:466650 |
| White-Kernohan Syndrome |
|
Hydroureter, Horseshoe kidney, Low-set ears, Recurrent otitis media, Macrotia, Hydronephrosis, Si... |
OMIM:619426 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Anemia |
ORPHA:93325 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me... |
OMIM:604292 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ... |
ORPHA:83471 |
| Frontometaphyseal Dysplasia 1 |
|
Sensorineural hearing impairment, Hydroureter, Hydronephrosis, Hearing impairment |
OMIM:305620 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Megacystis |
ORPHA:2241 |
| Hardikar Syndrome |
|
Hypoplasia of the bladder, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, ... |
OMIM:301068 |
| Igg4-Related Thyroid Disease |
|
Hypocalcemia |
ORPHA:64744 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hyperkalemia, Elevated serum 11... |
OMIM:201750 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Hydroureter, Posteriorly rotated ears, Hearing impairment |
OMIM:610759 |
| Restrictive Dermopathy 1 |
|
Ureteral duplication, Hypospadias, Stillbirth, Pulmonary hypoplasia, Low-set ears, Neonatal death |
OMIM:275210 |
| Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
| Diphallia |
|
Ureteral duplication, Renal malrotation, Hypospadias, Distal urethral duplication, Epispadias, Pe... |
ORPHA:227 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Per... |
OMIM:301040 |
| Early Infantile Epileptic Encephalopathy |
|
Choreoathetosis, Ureterocele, Episodic ataxia, Micropenis, Pachygyria, Renal dysplasia |
ORPHA:1934 |
| Cardiac Valvular Dysplasia 1 |
|
Pulmonary artery atresia, Urethral diverticulum, Hydroureter, Hydronephrosis |
OMIM:212093 |
| Peters Plus Syndrome |
|
Low-set, posteriorly rotated ears, Ureteral duplication, Multicystic kidney dysplasia, Hypospadia... |
ORPHA:709 |
| Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic... |
OMIM:258040 |
| Frontometaphyseal Dysplasia |
|
Mixed hearing impairment, Ureteral obstruction, Sensorineural hearing impairment, Urethral stenos... |
ORPHA:1826 |
| Coffin-Siris Syndrome 1 |
|
Recurrent respiratory infections, Hydroureter, Hypospadias, Abnormal pinna morphology, Posteriorl... |
OMIM:135900 |
| Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Bicuspid aortic valve, Hypocalcemia |
OMIM:218330 |
| Poland Syndrome |
|
Duplicated collecting system, Hypospadias, Renal hypoplasia/aplasia, Renal hypoplasia, Ureterocel... |
ORPHA:2911 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Hypospadias, Posteriorly rotated ears, Uplifted earlobe, Microtia, Low-set ears, Ureterocele, Ove... |
OMIM:616734 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:847 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Ureteral stenosis, Hypospadias, Hydroureter, Low-set ears, Micropenis, Hydronephrosis |
OMIM:269150 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Otosclerosis, Nephrolithiasis, Hypercalciuria, Anterior creases of earlobe,... |
ORPHA:116 |
| Fanconi Anemia |
|
Renal insufficiency, Hydroureter, Hypospadias, Recurrent urinary tract infections, Aganglionic me... |
ORPHA:84 |
| Occipital Horn Syndrome |
|
Hydronephrosis, Bladder diverticulum, Orthostatic hypotension, Ureteral obstruction |
OMIM:304150 |
| Simpson-Golabi-Behmel Syndrome |
|
Low-set, posteriorly rotated ears, Ureteral duplication, Hypoplasia of penis, Multicystic kidney ... |
ORPHA:373 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent respiratory infections, Hydroureter, Aganglionic megacolon, Abnormality of the kidney, ... |
ORPHA:2273 |
| Restrictive Dermopathy |
|
Ureteral duplication, Hypospadias, Pulmonary hypoplasia, Low-set ears |
ORPHA:1662 |
| Microphthalmia, Syndromic 1 |
|
Hydroureter, Hypospadias, Abnormal pinna morphology, Aganglionic megacolon, Renal hypoplasia/apla... |
OMIM:309800 |
| Meckel Syndrome |
|
Low-set, posteriorly rotated ears, Ureteral duplication, Multicystic kidney dysplasia, Optic atro... |
ORPHA:564 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Renal malrotation, Dilatation of the renal pelvis, Horseshoe kidney, Axial ... |
OMIM:274000 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Pulmonary artery stenosis, Glycosuria |
OMIM:600001 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Hydroureter, Posteriorly rotated ears, Abnormality of the kidney, Abnormality of the upper urinar... |
ORPHA:2636 |
| Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Renal agenesis, Unilateral external ear deformity, Ectopic kidney, ... |
OMIM:164210 |
| Johanson-Blizzard Syndrome |
|
Hepatomegaly, Diabetes mellitus, Ventricular septal defect, Increased VLDL cholesterol concentrat... |
OMIM:243800 |
| Charge Syndrome |
|
Overriding aorta, Ventricular septal defect, Secundum atrial septal defect, Dysplastic tricuspid ... |
OMIM:214800 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication, Pulmonary artery stenosis |
ORPHA:2255 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Ventricular septal defect, Hypocalcemia |
OMIM:620330 |
| Focal Dermal Hypoplasia |
|
Ureteral duplication, Mixed hearing impairment, Optic atrophy, Horseshoe kidney, Low-set ears, St... |
OMIM:305600 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia |
ORPHA:289176 |
| Peters-Plus Syndrome |
|
Ureteral duplication, Hypospadias, Posteriorly rotated ears, Renal hypoplasia, Protruding ear, Lo... |
OMIM:261540 |
