Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,... |
OMIM:205950 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Elevated hepatic iron concentra... |
OMIM:206100 |
Intrinsic Factor Deficiency |
|
Reduced haptoglobin level, Megaloblastic anemia, Increased RBC distribution width, Increased mean... |
OMIM:261000 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, N... |
ORPHA:293964 |
Familial Pseudohyperkalemia |
|
Stomatocytosis, Hyperkalemia, Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscu... |
ORPHA:90044 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Hyper... |
OMIM:616689 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
T-cell acute lymphoblastic leukemias, Type I diabetes mellitus, Pancytopenia, Increased mean corp... |
OMIM:620044 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume |
OMIM:252270 |
Dehydrated Hereditary Stomatocytosis |
|
Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Congenital hemoly... |
ORPHA:3202 |
Sickle Cell Anemia |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Reticulocytosis, Persistence of hemoglobin F, ... |
ORPHA:232 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... |
ORPHA:98870 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Type II diabetes mellitus, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corp... |
OMIM:616860 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia, T lymphocytopenia |
DECIPHER:16 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Anemia, Hypercalcemia |
ORPHA:2668 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Humero-Radio-Ulnar Synostosis |
|
Abnormality of the upper urinary tract, Abnormality of the ureter |
ORPHA:3266 |
Diffuse Neonatal Hemangiomatosis |
|
Anemia, Thrombocytopenia, Hypercalcemia |
ORPHA:2123 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Low-set, posteriorly rotated ears, Hypospadias, Abnormality of the ureter, Macrotia |
ORPHA:2487 |
Autosomal Recessive Primary Microcephaly |
|
Vesicoureteral reflux, Gray matter heterotopia, Unilateral renal agenesis, Pachygyria |
ORPHA:2512 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Round ear, Hydronephrosis |
ORPHA:1450 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Recurrent hypoglycemia, Increased proinsulin:insulin ratio, Hypercalcemia |
ORPHA:94086 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... |
OMIM:300946 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Elevated transferrin saturation, Poikilocytosis, Decreased mean corpuscular volume, Incre... |
OMIM:615234 |
Braddock Syndrome |
|
Pulmonary fibrosis, Unilateral renal agenesis, Posteriorly rotated ears, Overfolded helix |
ORPHA:52047 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Aganglionic megacolon, Hearing impairment, Unilateral renal agenesis |
OMIM:235740 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia, Hyponatremia |
OMIM:616949 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Lissencephaly, Recurrent respiratory infections, Chronic otitis media, Atelectasis |
OMIM:619466 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the lungs, Hypoplasia of penis, Hypospadias, Abno... |
ORPHA:1046 |
Chronic Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypernatremia, Hemolytic anemia, Hypoalbuminemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypernatremia, Hemolytic anemia, Hypoalbuminemia |
ORPHA:529799 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Ureteral atresia, Unilateral renal agenesis, Bilateral renal agenesis |
OMIM:618845 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Oligomeganephronia |
|
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... |
ORPHA:2260 |
Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Otitis media, Atelectasis, High-frequency hearing impairment |
OMIM:300455 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
Bardet-Biedl Syndrome 16 |
|
Renal dysplasia, Stage 5 chronic kidney disease, Renal agenesis, Recurrent otitis media, Renal cy... |
OMIM:615993 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
Renal Hypoplasia |
|
Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec... |
ORPHA:93101 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperalaninemia, Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hypernatremia, ... |
OMIM:615751 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Renal hypoplasia, Low-set ears, Unilateral renal agenesis, Chronic kidney disease |
OMIM:617661 |
Rhabdoid Tumor |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:69077 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Branchiootorenal Syndrome 1 |
|
Renal steatosis, Vesicoureteral reflux, Conductive hearing impairment, Sensorineural hearing impa... |
OMIM:113650 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Hepatosplenomegaly, Diabetes mellitus, Hypercholesterolemia, Hypocalcemia, Hy... |
OMIM:612526 |
Hypoadrenocorticism, Familial |
|
Hypoglycemia, Hyperkalemia, Hyponatremia |
OMIM:240200 |
Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Hyperkalemia, Neonatal hypoglycemia, Hypoglycemic seizures,... |
ORPHA:199296 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Renal agenesis, Stillbirth, Abnormal lung morphology |
ORPHA:294975 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
Hypophosphatasia |
|
Anemia, Hypercalcemia |
ORPHA:436 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Renal Agenesis |
|
Ureteral agenesis, Renal insufficiency, Bilateral renal agenesis, Renal agenesis, Unilateral rena... |
ORPHA:411709 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Macrotia, Crossed fused renal ectopia, Unilateral renal agenesis, Lissencephaly, Low-set ears, Mi... |
OMIM:618142 |
Ciliary Dyskinesia, Primary, 33 |
|
Conductive hearing impairment, Bronchiectasis, Recurrent bronchitis, Recurrent otitis media, Recu... |
OMIM:616726 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Increased circulating free fatty acid level,... |
ORPHA:71212 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... |
ORPHA:3203 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Leukopenia, Anemia, Hyperuricemia, Pancytopenia, Increased blood urea nitrogen, Diabetes mellitus... |
OMIM:613845 |
Ciliary Dyskinesia, Primary, 21 |
|
Recurrent otitis media, Recurrent pneumonia, Atelectasis, Bronchiectasis |
OMIM:615294 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Increased circulating renin level, Increased circulating 18-hydroxycortisone level,... |
OMIM:610600 |
Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hyperuricemia, Hypocalcemia, Hyperkalemia, Elevated circulating creatine kinas... |
ORPHA:94093 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Ectopic kidney, Conductive hearing impairment, Renal agenesis, Unilateral renal agenesis |
OMIM:601076 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Glycogen Storage Disease Vi |
|
Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620126 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anemia, Dysplastic erythropoesis, Reticulocytopenia, Anisopoikilocytosis, Decreased transferrin s... |
ORPHA:300298 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:253240 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Micropenis, Macrotia, Unilateral renal agenesis |
OMIM:618504 |
Burn-Mckeown Syndrome |
|
Conductive hearing impairment, Unilateral renal agenesis, Renal hypoplasia, Hearing impairment, P... |
OMIM:608572 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620125 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Hypokalemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular vo... |
OMIM:611590 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hypoglycemia, Decreased circulating cortisol level, Hyperkalemia, Hyponatremia |
OMIM:614736 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:3319 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Hydronephrosis, Unilateral renal agenesis, Recurrent otitis media, Renal hypoplasia, Low-set ears... |
OMIM:618494 |
Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Unilateral renal agenesis, Lissencephaly |
ORPHA:281090 |
Alpha-Heavy Chain Disease |
|
Anemia, Hypocalcemia, Splenomegaly |
ORPHA:100025 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Sensorineural hearing impairment, Abnormality of the kidney, Hydroureter, Abnormality of the uppe... |
ORPHA:2838 |
Radial-Renal Syndrome |
|
Ectopic kidney, External ear malformation, Unilateral renal agenesis |
OMIM:179280 |
Emanuel Syndrome |
|
Macrotia, Recurrent urinary tract infections, Unilateral renal agenesis, Recurrent sinusitis, Rec... |
OMIM:609029 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Hypoglycemia, Neonatal hyperb... |
ORPHA:3008 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:615872 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia, Pancytopenia |
OMIM:613839 |
Prune Belly Syndrome |
|
Urogenital sinus anomaly, Vesicoureteral reflux, Multicystic kidney dysplasia, Recurrent urinary ... |
ORPHA:2970 |
Cutis Laxa, Autosomal Dominant 3 |
|
Low-set ears, Unilateral renal agenesis, Protruding ear |
OMIM:616603 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Megaloblastic anemia, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Increased m... |
OMIM:277410 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Unilateral renal agenesis |
OMIM:601355 |
Mandibuloacral Dysplasia |
|
Hyperinsulinemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-resist... |
ORPHA:2457 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Micropenis, Hearing impairment, Unilateral renal agenesis |
OMIM:244200 |
Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Normocytic anemia, Decreased circulating cortisol level, Hyperkalemia, Type I diab... |
ORPHA:199299 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Vesicoureteral reflux, Bifid ureter, Hypoplastic helices, Thickened helices, Renal dysplasia, Mic... |
OMIM:617641 |
Myotubular Myopathy With Abnormal Genital Development |
|
Penile hypospadias, Hypospadias, Glandular hypospadias, Neonatal death, Micropenis, Atelectasis |
OMIM:300219 |
Ciliary Dyskinesia, Primary, 20 |
|
Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Recurrent respi... |
OMIM:615067 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Williams-Beuren Region Duplication Syndrome |
|
Chronic otitis media, Unilateral renal agenesis, Overfolded helix, Hydronephrosis |
OMIM:609757 |
Methylcobalamin Deficiency Type Cble |
|
Hyperhomocystinemia, Hypomethioninemia, Pancytopenia, Macrocytic anemia, Increased mean corpuscul... |
ORPHA:2169 |
D-Glyceric Aciduria |
|
Nonketotic hyperglycinemia, Increased circulating free fatty acid level, Hyperglycinemia |
ORPHA:941 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Increase... |
OMIM:267700 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Ureteral agenesis, Renal dysplasia, Pulmonary hypoplasia, Renal cyst, Stillbirth, Renal hypoplasi... |
OMIM:236500 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia |
OMIM:615508 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Pulmonary infiltrates, Elevated bronchoalveolar lavage fluid neutrophil proportion, Parenchymal c... |
OMIM:610978 |
Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
Coach Syndrome 1 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Unilateral renal agenesis, ... |
OMIM:216360 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Unilateral renal agenesis |
ORPHA:3306 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the kidney, Unila... |
OMIM:118100 |
Emanuel Syndrome |
|
Macrotia, Unilateral renal agenesis, Recurrent otitis media, Hearing impairment, Severe hearing i... |
ORPHA:96170 |
Late-Onset Familial Hypoaldosteronism |
|
Abnormal circulating corticosterone level, Hyperkalemia, Increased circulating renin level, Hypon... |
ORPHA:556037 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis |
OMIM:617948 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Proximal tubulopathy, Optic atrophy, Abnormal cortical gyration, Unilateral renal agenesis, Hyper... |
OMIM:614576 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
Hypercalcemia, Infantile, 1 |
|
Hypercalcemia |
OMIM:143880 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Elliptocytosis, Decreased serum iron, Poikilocytosis, Decreased mean corpuscular volume, ... |
OMIM:616959 |
Chopra-Amiel-Gordon Syndrome |
|
Unilateral renal agenesis |
OMIM:619504 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Elevated circulating creat... |
ORPHA:26793 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Pulmonary fibrosis, Bilateral facial palsy, Atelectasis |
ORPHA:254361 |
2P21 Microdeletion Syndrome |
|
Hypocalcemia, Hypoglycemia |
ORPHA:163693 |
Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Gait ataxia, Unilateral renal agenesis |
OMIM:616362 |
Beta-Thalassemia Intermedia |
|
Abnormality of iron homeostasis, Increased HbA2 hemoglobin, Elevated hepatic iron concentration, ... |
ORPHA:231222 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:610021 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremia |
ORPHA:223 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Splenomegaly, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Hyperparathyroidism, Neonatal Severe |
|
Anemia, Calcinosis, Hypophosphatemia, Hypercalcemia, Splenomegaly |
OMIM:239200 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
Bronchopulmonary Dysplasia |
|
Abnormal lung morphology, Pulmonary sequestration, Atelectasis, Emphysema |
ORPHA:70589 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Sensorineural hearing impairment, Dysdiadochokinesis, Simplified gyral pattern, Unilateral renal ... |
OMIM:616541 |
Early-Onset Familial Hypoaldosteronism |
|
Abnormal circulating corticosterone level, Hyperkalemia, Increased circulating renin level, Hypon... |
ORPHA:556030 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal mean corpuscular vol... |
ORPHA:86839 |
Trisomy 13 |
|
Abnormal antihelix morphology, Sensorineural hearing impairment, Low-set ears, Optic atrophy, Abn... |
ORPHA:3378 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures |
ORPHA:2239 |
Axial Mesodermal Dysplasia Spectrum |
|
Microtia, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the lungs, Renal cyst, Abnormality of t... |
ORPHA:1834 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Renal agenesis, Ureteral dysgenesis |
OMIM:274265 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:177735 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Anemia, Reticulocytosis |
OMIM:613977 |
Bronchogenic Cyst |
|
Abnormal pleura morphology, Pulmonary cyst, Paresthesia, Abnormal pulmonary thoracic imaging find... |
ORPHA:2357 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyperaldosteronism, Hyperkalemia, Hyponatremia |
OMIM:264350 |
Majeed Syndrome |
|
Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anemia of inadequat... |
OMIM:609628 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Anemia, Hypercalcemia |
OMIM:241500 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:203400 |
Acute Interstitial Pneumonia |
|
Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Bronchiectasis, Subpleural honeycombing... |
ORPHA:79126 |
Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia, Splenomegaly |
ORPHA:172 |
Refractory Celiac Disease |
|
Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
Neonatal Hemochromatosis |
|
Hypoglycemia, Increased circulating ferritin concentration, Increased serum iron |
ORPHA:446 |
Nager Syndrome |
|
Microtia, Unilateral renal agenesis, Low-set, posteriorly rotated ears, Hearing impairment, Atres... |
ORPHA:245 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Vesicoureteral reflux, Unilateral renal agenesis, Micropenis, Low-set ears, Hearing impairment, P... |
OMIM:619951 |
Kallmann Syndrome With Spastic Paraplegia |
|
Micropenis, Unilateral renal agenesis, Ataxia |
OMIM:308750 |
Asbestos Intoxication |
|
Abnormal pulmonary interstitial morphology, Subpleural honeycombing, Lung adenocarcinoma, Interlo... |
ORPHA:2302 |
Oculoskeletodental Syndrome |
|
Hypocalcemia, Hypercalcemia |
ORPHA:557003 |
Beaulieu-Boycott-Innes Syndrome |
|
Horseshoe kidney, Unilateral renal agenesis, Recurrent urinary tract infections |
OMIM:613680 |
Caudal Regression Syndrome |
|
Vesicoureteral reflux, Renal agenesis, Pulmonary hypoplasia, Ectopic kidney, Abnormality of the u... |
ORPHA:3027 |
Shashi-Pena Syndrome |
|
Unilateral renal agenesis, Low-set ears, Cupped ear, Overfolded helix, Posteriorly rotated ears |
OMIM:617190 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... |
OMIM:613673 |
Bladder Exstrophy And Epispadias Complex |
|
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy |
OMIM:600057 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon... |
OMIM:300539 |
Acute Adrenal Insufficiency |
|
Hyperuricemia, Normocytic anemia, Decreased circulating cortisol level, Hyperkalemia, Increased c... |
ORPHA:95409 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Recurrent urinary tract infections, Abnormality of the kidney, Unilateral renal agenesis, Hypospa... |
ORPHA:363444 |
Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Hypoamylasemia, Imp... |
ORPHA:811 |
Hereditary Orotic Aciduria |
|
Aminoaciduria, Recurrent respiratory infections, Oroticaciduria, Abnormality of the ureter, Low-s... |
ORPHA:30 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Unilateral renal agenesis |
OMIM:206750 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Low-set, posteriorly rotated ears, Abnormality of the ureter, Hypoplasia of the ear cartilage |
ORPHA:1035 |
Hepatocellular Carcinoma |
|
Anemia, Type II diabetes mellitus, Hypokalemia, Hyperbilirubinemia, Polycythemia, Hypoglycemia, T... |
ORPHA:88673 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Recurrent aspiration pneumonia, Recurrent urinary tract infections, Unilateral renal agenesis, At... |
ORPHA:221139 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Necrotizing Enterocolitis |
|
Abnormal glucose homeostasis, Leukocytosis, Hyponatremia, Hyperglycemia, Thrombocytopenia, Neutro... |
ORPHA:391673 |
Hereditary Coproporphyria |
|
Abnormal circulating porphyrin concentration, Anemia, Hyponatremia |
ORPHA:79273 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Leukopenia, Anemia, Pancytopenia, Hepatosplenomegaly, Increased circul... |
OMIM:603553 |
Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:846 |
Congenital Disorder Of Glycosylation, Type Im |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level |
OMIM:610768 |
Congenital Primary Megaureter |
|
Vesicoureteral reflux, Hydronephrosis, Congenital megaureter, Recurrent urinary tract infections,... |
ORPHA:617 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Lymphangioleiomyomatosis |
|
Pulmonary infiltrates, Pneumothorax, Renal angiomyolipoma, Optic atrophy, Hematuria, Emphysema, R... |
ORPHA:538 |
Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia |
OMIM:141000 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Hypercalcemia, Elevated creatine kinase after exercise |
ORPHA:284426 |
Beta-Thalassemia |
|
Anemia, Abnormality of iron homeostasis, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Mic... |
ORPHA:848 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Congenital megaureter, Renal dysplasia, Hydroureter, Ureteropelvic junction obstruction, Renal hy... |
OMIM:143400 |
Uremic Pruritus |
|
Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia |
ORPHA:94059 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal circulating porphyrin concentration, Abnormal erythrocyte enzyme level, Increased erythr... |
ORPHA:100924 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Vesicoureteral reflux, Unilateral renal agenesis |
OMIM:606408 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalcemia, Hypermagnesemia |
OMIM:145980 |
Dextrocardia |
|
Abnormal pulmonary situs morphology, Abnormal lung lobation, Abnormality of the pulmonary artery,... |
ORPHA:1666 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Increased blood urea nitrogen, Episodic hemolytic anemia, Hypercalcemia |
ORPHA:251004 |
Non-Functioning Paraganglioma |
|
Hypercalcemia |
ORPHA:94080 |
Meconium Aspiration Syndrome |
|
Aspiration pneumonia, Pneumothorax, Abnormal pulmonary thoracic imaging finding, Transient pulmon... |
ORPHA:70588 |
Primary Ciliary Dyskinesia |
|
Respiratory tract infection, Conductive hearing impairment, Abnormal sperm motility, Bronchiectas... |
ORPHA:244 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Takenouchi-Kosaki Syndrome |
|
Sensorineural hearing impairment, Optic atrophy, Unilateral renal agenesis, Ataxia, Hypospadias, ... |
OMIM:616737 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia |
OMIM:612089 |
Addison Disease |
|
Hyperuricemia, Normocytic anemia, Decreased circulating cortisol level, Hyperkalemia, Increased c... |
ORPHA:85138 |
Renal Hypodysplasia/Aplasia 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Horseshoe k... |
OMIM:617805 |
Mirage Syndrome |
|
Leukopenia, Anemia, Hyperkalemia, Lymphopenia, Hypoglycemia, Thrombocytopenia, Hyponatremia, Hypo... |
OMIM:617053 |
Wolcott-Rallison Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, ... |
ORPHA:1667 |
Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Sensorineural hearing impairment, Hydronephrosis |
OMIM:264140 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Hypermagnesemia |
OMIM:145981 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia |
OMIM:300971 |
Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Atelectasis |
OMIM:267450 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hypoglycemia, Hyponatremia |
OMIM:608688 |
Renal Cysts And Diabetes Syndrome |
|
Stage 5 chronic kidney disease, Abnormality of the kidney, Glycosuria, Reduced sperm motility, Un... |
OMIM:137920 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Micropenis, Unilateral renal agenesis, Ataxia |
OMIM:308700 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Low-set ears, Renal agenesis, Unilateral renal agenesis |
OMIM:619227 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Gray matter heterotopia, Unilateral renal agenesis, Frontal polymicrogyria, Pachygyria, Neonatal ... |
OMIM:620024 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Herpes Simplex Virus Encephalitis |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hyponatremia |
ORPHA:1930 |
Intermediate Osteopetrosis |
|
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly |
ORPHA:210110 |
Pseudohypoparathyroidism Type 2 |
|
Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94090 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Parenchymal consolidation, Abnormal pulmonary thoracic imaging finding, Pleural effusion, Hyperse... |
ORPHA:2902 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Renal agenesis, Unilateral renal agenesis, Low-set ears, Overfolded helix, Posteriorly rotated ears |
OMIM:608980 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Infantile Myofibromatosis |
|
Hypercalcemia |
ORPHA:2591 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells |
OMIM:619774 |
Recurrent Respiratory Papillomatosis |
|
Recurrent pneumonia, Recurrent upper respiratory tract infections, Atelectasis, Abnormal lung mor... |
ORPHA:60032 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Pulmonary hypoplasia, Unilateral renal agenesis, Stillbirth, Hearing impairment, Hydronephrosis |
OMIM:308050 |
Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular ... |
ORPHA:231226 |
Diabetic Embryopathy |
|
Hydronephrosis, Microtia, Renal hypoplasia/aplasia, Abnormality of the pulmonary artery, Hearing ... |
ORPHA:1926 |
Oculoskeletodental Syndrome |
|
Hypocalcemia, Hypercalcemia, Splenomegaly |
OMIM:618440 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase ... |
OMIM:618838 |
Colchicine Poisoning |
|
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Leukocytosis, Hyponatremia, Hypo... |
ORPHA:31824 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Hypoglycemia, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly |
OMIM:306000 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Periventricular heterotopia, Microphallus, Simplified gyral pattern, Optic disc pallor, Unilatera... |
ORPHA:468631 |
Infant Acute Respiratory Distress Syndrome |
|
Respiratory tract infection, Pneumonia, Atelectasis, Pulmonary edema |
ORPHA:70587 |
Mastocytosis |
|
Mastocytosis, Hypercalcemia, Acute leukemia, Splenomegaly, Chronic leukemia |
ORPHA:98292 |
Waardenburg Syndrome Type 3 |
|
Hearing impairment, Atelectasis |
ORPHA:896 |
Familial Nasal Acilia |
|
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis |
ORPHA:922 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
Beta-Thalassemia Major |
|
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decrea... |
ORPHA:231214 |
Penoscrotal Transposition |
|
Renal dysplasia, Penoscrotal transposition, Renal agenesis, Abnormality of the ureter, Hypospadia... |
ORPHA:2842 |
Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612562 |
Urban-Rogers-Meyer Syndrome |
|
Abnormality of the ureter, Hypoplasia of penis, Overfolded helix, Aplasia/Hypoplasia of the earlobes |
ORPHA:3409 |
Renal Hypoplasia, Bilateral |
|
Glycosuria, Anemia, Hyperkalemia, Hyponatremia |
ORPHA:97362 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Stag... |
OMIM:614527 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Low-set ears, Abnormality of the ureter, Hypospadias |
ORPHA:2522 |
Peutz-Jeghers Syndrome |
|
Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts, Neoplasm of the lung |
ORPHA:2869 |
Thymic Neuroendocrine Tumor |
|
Hypercalcemia, Increased circulating cortisol level |
ORPHA:97289 |
Immunodeficiency 82 With Systemic Inflammation |
|
Reduced natural killer cell count, Anemia, T lymphocytopenia, B lymphocytopenia, Decreased propor... |
OMIM:619381 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Anemia, Lymphopenia, Increased mean corpuscular volume, Thrombocytopenia, Aplastic an... |
OMIM:127550 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Increased circulating renin ... |
ORPHA:171876 |
Alg8-Cdg |
|
Thrombocytopenia, Anemia, Hyponatremia |
ORPHA:79325 |
Snakebite Envenomation |
|
Thrombocytopenia, Hyponatremia |
ORPHA:449285 |
Tracheobronchopathia Osteochondroplastica |
|
Bronchitis, Recurrent respiratory infections, Recurrent pneumonia, Pneumonia, Atelectasis |
ORPHA:3348 |
Short-Rib Thoracic Dysplasia 12 |
|
Atelectasis, Cystic renal dysplasia, Pulmonary hypoplasia, Abnormal pinna morphology, Renal hypop... |
OMIM:269860 |
7Q11.23 Microduplication Syndrome |
|
Simplified gyral pattern, Abnormal optic disc morphology, Unilateral renal agenesis, Large earlob... |
ORPHA:96121 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyperaldosteronism, Hypokalemia, Increased circulating renin level, Hypochloremia, Hyponatremia |
OMIM:214700 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Unilateral renal agenesis |
ORPHA:1064 |
Timothy Syndrome |
|
Hypocalcemia, Hypoglycemia |
OMIM:601005 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Microtia, Renal hypoplasia/aplasia, Abnormality of the ureter, Low-set, posteriorly rotated ears,... |
ORPHA:1770 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Thrombocytopenia, Leukocytosis, Hyponatremia |
ORPHA:83601 |
Chand Syndrome |
|
Hydroureter, Ataxia, Atelectasis |
ORPHA:1401 |
Holzgreve Syndrome |
|
Renal hypoplasia, Renal agenesis |
OMIM:236110 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
Cholera |
|
Hypokalemia, Abnormal blood ion concentration, Hypoglycemia, Hyponatremia, Hypocalcemia |
ORPHA:173 |
Wolfram Syndrome, Mitochondrial Form |
|
Sensorineural hearing impairment, Optic atrophy, Hydroureter, Abnormal autonomic nervous system p... |
OMIM:598500 |
Renal Tubular Acidosis, Distal, 1 |
|
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia |
OMIM:179800 |
Monosomy 13Q34 |
|
Insulin resistance, Hypercalcemia |
ORPHA:96168 |
Dysmyelination With Jaundice |
|
Hydroureter, Hypoplasia of penis, Hydronephrosis |
OMIM:224250 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Hypercalcemia, Hypermagnesemia |
OMIM:600740 |
Orthostatic Hypotension 2 |
|
Anemia, Hypoglycemia |
OMIM:618182 |
Neurofaciodigitorenal Syndrome |
|
Abnormal tragus morphology, Abnormal antitragus morphology, Unilateral renal agenesis, External e... |
ORPHA:2673 |
Vici Syndrome |
|
Gray matter heterotopia, Sensorineural hearing impairment, Renal tubular acidosis, Optic atrophy,... |
ORPHA:1493 |
Smith-Lemli-Opitz Syndrome |
|
Periventricular heterotopia, Aganglionic megacolon, Renal agenesis, Abnormal lung lobation, Unila... |
OMIM:270400 |
Fraser Syndrome 3 |
|
Ureteral agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Abnormal lung lobation, H... |
OMIM:617667 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Optic disc pallor, Hydronephrosis |
OMIM:618240 |
Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... |
ORPHA:124 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microtia, Hydroureter, Abnormality of the upper urinary tract, Hypoplasia of penis, Abnormality o... |
ORPHA:2547 |
Multiple Myeloma |
|
Anemia, Hypercalcemia, Elevated circulating creatinine concentration, Hyperproteinemia, Splenomegaly |
ORPHA:29073 |
Autosomal Dominant Cutis Laxa |
|
Bronchiectasis, Bladder diverticulum, Pyelonephritis, Unilateral renal agenesis, Emphysema, Perip... |
ORPHA:90348 |
Albers-Schönberg Osteopetrosis |
|
Anemia, Abnormal leukocyte morphology, Hypocalcemia |
ORPHA:53 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Low-set, posteriorly rotated ears, Anomalous pulmonary venous return, Abnormality of the ureter, ... |
ORPHA:2311 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Anemia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Hyperammonemia, Splenomegaly |
ORPHA:664 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Hypercalcemia, Increased circulating cortisol level |
OMIM:131100 |
Kenny-Caffey Syndrome, Type 1 |
|
Anemia, Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypophosphatemia, Hypercalcemia |
OMIM:156400 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormality of neuronal migration, Unilateral renal agenesis, Renal cyst, Hypospadias, Pelvic kid... |
ORPHA:464311 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Sensorineural hearing impairment, Prominent crus of helix, Bilateral renal agenesis, Hydroureter,... |
OMIM:619194 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Unconjugated hyperbilirubinemia, Microangiopathic hemolytic anemia, Hypokalemia, Reticulocytosis,... |
ORPHA:90038 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Ectopic kidney, Abnormality of the kidney, Horseshoe kidney, Unilateral renal agenesis |
ORPHA:3109 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Optic atrophy, Unilateral renal agenesis, Hypospadias, Total anomalous pulmonary venous return, L... |
ORPHA:487796 |
Whipple Disease |
|
Anemia, Insulin resistance, Splenomegaly, Hyponatremia |
ORPHA:3452 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia |
OMIM:602080 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the ureter, Recurrent respiratory infections, Protruding ear, Macrotia |
ORPHA:3253 |
Cockayne Syndrome Type 3 |
|
Conductive hearing impairment, Abnormality of peripheral nerve conduction, Macrotia, Urinary rete... |
ORPHA:90324 |
Aredyld Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of the ureter, Abnormal tragus morphology |
ORPHA:1133 |
Vipoma |
|
Increased circulating cortisol level, Hypokalemia, Diabetes mellitus, Hypercalcemia, Normochromic... |
ORPHA:97282 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Vesicoureteral reflux, Renal dysplasia, Polycystic kidney dysplasia, Unilateral renal agenesis, P... |
ORPHA:2237 |
Familial Glucocorticoid Deficiency |
|
Ketotic hypoglycemia, Decreased circulating cortisol level, Hyperkalemia, Hypoglycemic seizures, ... |
ORPHA:361 |
Hyperparathyroidism, Transient Neonatal |
|
Enlarged kidney, Low-set ears, Unilateral renal agenesis |
OMIM:618188 |
Somatostatinoma |
|
Increased circulating cortisol level, Steatorrhea, Hypochromic microcytic anemia, Diabetes mellit... |
ORPHA:97283 |
Glucagonoma |
|
Increased circulating cortisol level, Steatorrhea, Normochromic anemia, Diabetes mellitus, Hyperc... |
ORPHA:97280 |
Alagille Syndrome |
|
Nephrotic syndrome, Renal hypoplasia/aplasia, Abnormality of the ureter, Peripheral pulmonary art... |
ORPHA:52 |
Pituitary Apoplexy |
|
Increased circulating cortisol level, Hypoglycemia, Normochromic anemia, Hyponatremia |
ORPHA:95613 |
Czeizel-Losonci Syndrome |
|
Ureteral agenesis, Congenital megaureter, Hypoplastic helices, Prominent antitragus, Pulmonary hy... |
ORPHA:2437 |
Ciliary Dyskinesia, Primary, 1 |
|
Conductive hearing impairment, Bronchiectasis, Recurrent bronchitis, Pneumonia, Chronic otitis me... |
OMIM:244400 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hearing impairment, Unilateral renal agenesis, Optic atrophy |
OMIM:101800 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentration |
ORPHA:6 |
Schizophrenia 1 |
|
Ectopic kidney, Renal agenesis, Protruding ear, Partially duplicated kidney |
OMIM:181510 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Methylmalonic aciduria, Unilateral renal agenesis |
ORPHA:79284 |
Zttk Syndrome |
|
Optic atrophy, Unilateral lung agenesis, Unilateral renal agenesis, Polyuria, Horseshoe kidney, L... |
OMIM:617140 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hypoglycemia, Decreased circulating cortisol level, Hyperkalemia, Hyponatremia |
ORPHA:90790 |
Scalp-Ear-Nipple Syndrome |
|
Small earlobe, Underdeveloped antitragus, Microtia, Underdeveloped tragus, Pyelonephritis, Unilat... |
OMIM:181270 |
Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
Fanconi Anemia, Complementation Group L |
|
Anotia, Microtia, Unilateral renal agenesis, Renal hypoplasia, Low-set ears, Micropenis |
OMIM:614083 |
Silver-Russell Syndrome 1 |
|
Nephroblastoma, Congenital posterior urethral valve, Abnormality of the ureter, Hypospadias, Uret... |
OMIM:180860 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperuricemia, Hyperlipidemia |
ORPHA:364 |
Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia, Neonatal hypoglycemia |
OMIM:606407 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Ureteral agenesis, Bilateral renal agenesis, Simplified gyral pattern, Optic nerve hypoplasia, Mi... |
OMIM:617914 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Unilateral renal agenesis, Recurrent otitis media, Recurrent sinusitis, Low-set ears, Posteriorly... |
OMIM:213980 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Pulmonary hypoplasia, Multiple bladder diverticula, Emphysema, Recurrent pneumonia, Peripheral pu... |
OMIM:613177 |
Matthew-Wood Syndrome |
|
Vesicoureteral reflux, Pulmonary hypoplasia, Horseshoe kidney, Abnormal lung morphology, Renal hy... |
ORPHA:2470 |
Shigellosis |
|
Microangiopathic hemolytic anemia, Abnormal blood ion concentration, Hypoglycemia, Leukocytosis, ... |
ORPHA:810 |
Primary Intestinal Lymphangiectasia |
|
Anemia, Reduced proportion of CD4+ effector memory T cells, Lymphopenia, Hypoproteinemia, Decreas... |
ORPHA:90362 |
Renal Dysplasia |
|
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Macrotia, Unilateral renal agenesis, Renal cyst, Hypospadias, Pelvic kidney, Optic disc pallor, M... |
ORPHA:464306 |
X-Linked Agammaglobulinemia |
|
Thrombocytopenia, Neutropenia, Hypocalcemia, Anemia |
ORPHA:47 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Enuresis, Urethral valve, Urethral obstruction, ... |
OMIM:236730 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Hyperkalemia, Autoimmune thrombocytopenia, Severe B lymphoc... |
ORPHA:293978 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia |
OMIM:618183 |
Hemochromatosis, Neonatal |
|
Hypoglycemia, Increased circulating ferritin concentration, Abnormality of iron homeostasis, Incr... |
OMIM:231100 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperaldosteronism, Hypokalemia, Hyperchloriduria, Hypochloremia, Hyponatremia |
OMIM:613090 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin level, Neonatal h... |
ORPHA:90791 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Sensorineural hearing impairment, Unilateral renal agenesis, Low-set ears, Overfolded helix, Post... |
OMIM:618419 |
Porphyria Variegata |
|
Abnormal circulating porphyrin concentration, Anemia, Hyponatremia |
ORPHA:79473 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:36913 |
Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hyponatremia |
OMIM:300200 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal antihelix morphology, Vesicoureteral reflux, Conductive hearing impairment, Unilateral r... |
ORPHA:95699 |
Smith-Magenis Syndrome |
|
Conductive hearing impairment, Renal hypoplasia/aplasia, Impaired pain sensation, Abnormality of ... |
ORPHA:819 |
Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
Ellis Van Creveld Syndrome |
|
Renal hypoplasia/aplasia, Abnormality of the kidney, Hydroureter, Aplasia/Hypoplasia of the lungs... |
ORPHA:289 |
Serkal Syndrome |
|
Hypoplasia of the bladder, Renal agenesis, Pulmonary hypoplasia, Hypospadias, Abnormal penis morp... |
ORPHA:139466 |
Vesicoureteral Reflux 3 |
|
Ureter duplex, Recurrent urinary tract infections, Hydroureter, Grade IV vesicoureteral reflux, G... |
OMIM:613674 |
Chédiak-Higashi Syndrome |
|
Anemia, Hypertriglyceridemia, Neutropenia, Pancytopenia, Hepatosplenomegaly, Increased circulatin... |
ORPHA:167 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Chronic otitis media, Atelectasis |
ORPHA:2314 |
Mullerian Aplasia And Hyperandrogenism |
|
Unilateral renal agenesis |
OMIM:158330 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia |
ORPHA:276621 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Ectopic kidney, Renal agenesis, Hearing impairment, Renal dysplasia |
ORPHA:2578 |
Glycogen Storage Disease Ixb |
|
Hypoglycemia, Hyperuricemia, Splenomegaly |
OMIM:261750 |
Fibrous Dysplasia Of Bone |
|
Diabetes mellitus, Hypophosphatemia, Hypercalcemia, Increased circulating cortisol level |
ORPHA:249 |
Adenohypophysitis |
|
Decreased circulating cortisol level, Normochromic anemia, Hyponatremia |
ORPHA:95512 |
Osteopetrosis, Autosomal Recessive 1 |
|
Anemia, Hypocalcemia, Pancytopenia, Thrombocytopenia, Splenomegaly |
OMIM:259700 |
Familial Hypocalciuric Hypercalcemia |
|
Hypocalcemic seizures, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia |
ORPHA:405 |
Zygomycosis |
|
Pulmonary infiltrates, Parenchymal consolidation, Pneumothorax, Nephritis, Pleural effusion, Air ... |
ORPHA:73263 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Lujo Hemorrhagic Fever |
|
Renal insufficiency, Oliguria, Atelectasis, Microscopic hematuria |
ORPHA:319213 |
Primary Pulmonary Hypoplasia |
|
Pneumothorax, Pulmonary hypoplasia, Ureteral stenosis, Low-set ears, Recurrent respiratory infect... |
ORPHA:2257 |
Adenine Phosphoribosyltransferase Deficiency |
|
Urolithiasis, 2,8-dihydroxyadenine crystalluria, Hematuria, Oliguria, Renal insufficiency, Nephro... |
OMIM:614723 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Hypercalcemia |
ORPHA:476126 |
Bartter Syndrome, Type 1, Antenatal |
|
Increased serum prostaglandin E2, Hyperaldosteronism, Hypokalemia, Increased circulating renin le... |
OMIM:601678 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Vesicoureteral reflux, Renal dysplasia, Bladder trabeculation, Choreoathetosis, Pulmonary hypopla... |
OMIM:614080 |
Juvenile Nephropathic Cystinosis |
|
Hypocalcemic tetany, Glycosuria, Hypophosphatemia, Hypokalemia, Hyponatremia, Elevated circulatin... |
ORPHA:411634 |
Whim Syndrome |
|
Respiratory tract infection, Bronchiectasis, Limb ataxia, Recurrent pneumonia, Recurrent upper re... |
ORPHA:51636 |
Cockayne Syndrome |
|
Urinary incontinence, Somatic sensory dysfunction, Optic atrophy, Nephrotic syndrome, Neurogenic ... |
ORPHA:191 |
Familial Hypoaldosteronism |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:427 |
Legionnaires Disease |
|
Splenomegaly, Lymphopenia, Hyponatremia |
ORPHA:549 |
Lysosomal Acid Lipase Deficiency |
|
Hypercholesterolemia, Anemia, Hypersplenism, Hyperkalemia, Steatorrhea, Hepatosplenomegaly, Xanth... |
ORPHA:275761 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Vesicoureteral reflux, Hydroureter, Nephrolithiasis |
OMIM:617219 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Optic atrophy, Simplified gyral pattern, Unilateral lung agenesis, Unilateral renal agenesis, Emp... |
ORPHA:500150 |
Relapsing Polychondritis |
|
Glomerulopathy, Sensorineural hearing impairment, Hematuria, Vertigo, Chondritis of pinna, Protei... |
ORPHA:728 |
Leopard Syndrome 1 |
|
Sensorineural hearing impairment, Unilateral renal agenesis, Hypospadias, Posteriorly rotated ear... |
OMIM:151100 |
Pheochromocytoma |
|
Hypercalcemia |
OMIM:171300 |
Sheehan Syndrome |
|
Hypoglycemia, Decreased circulating cortisol level, Normochromic anemia, Hyponatremia |
ORPHA:91355 |
Congenital Tracheal Stenosis |
|
Anomalous origin of left pulmonary artery from ascending aorta, Abnormality of the kidney, Abnorm... |
ORPHA:141127 |
Panhypophysitis |
|
Decreased circulating cortisol level, Normochromic anemia, Hyponatremia |
ORPHA:95513 |
Acrofacial Dysostosis 1, Nager Type |
|
Conductive hearing impairment, Aganglionic megacolon, Polymicrogyria, Unilateral renal agenesis, ... |
OMIM:154400 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Elliptocytosis, Reticulocytosis, Hepatosplenom... |
OMIM:618278 |
Trisomy 20P |
|
Abnormal antihelix morphology, Macrotia, Abnormality of the kidney, Abnormal autonomic nervous sy... |
ORPHA:261318 |
8Q24.3 Microdeletion Syndrome |
|
Vesicoureteral reflux, Abnormality of the kidney, Abnormal lung lobation, Unilateral renal agenes... |
ORPHA:508488 |
Acrorenal-Mandibular Syndrome |
|
Polycystic kidney dysplasia, Renal agenesis, Pulmonary hypoplasia, Abnormality of the ureter, Apl... |
OMIM:200980 |
Renal Hypodysplasia/Aplasia 1 |
|
Bilateral renal agenesis, Renal dysplasia, Pulmonary hypoplasia, Low-set ears, Proteinuria |
OMIM:191830 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Calcinosis, Hypokalemia, Hyponatremia, Hypocalcemia, Splenomegaly |
OMIM:617913 |
Digeorge Syndrome |
|
Renal dysplasia, Unilateral renal agenesis, Recurrent sinusitis, Recurrent otitis media, Abnormal... |
OMIM:188400 |
Alg12-Cdg |
|
B lymphocytopenia, Recurrent hypoglycemia, Hyponatremia, Hypocholesterolemia, Thrombocytopenia, H... |
ORPHA:79324 |
Wolfram Syndrome 1 |
|
Sensorineural hearing impairment, Optic atrophy, Neurogenic bladder, Hydroureter, Ataxia, Hydrone... |
OMIM:222300 |
Penile Agenesis |
|
Absent penis, Bilateral lung agenesis, Bilateral renal agenesis, Urethral fistula, Hydroureter, C... |
ORPHA:49 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Increased glucagon level, Hyperinsulinemic hypoglycemia, Hy... |
ORPHA:276152 |
Distal 22Q11.2 Microduplication Syndrome |
|
Abnormal antihelix morphology, Unilateral renal agenesis, Low-set ears, Optic disc coloboma, Prot... |
ORPHA:261337 |
Mody |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Glucose intolerance, Neo... |
ORPHA:552 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia |
ORPHA:369837 |
Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
Mandibulofacial Dysostosis With Alopecia |
|
Conductive hearing impairment, Microtia, Hydroureter, Low-set ears, Stenosis of the external audi... |
OMIM:616367 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia |
OMIM:612462 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Atelectasis, Peripapillary atrophy, Repeated pneumothoraces, Pulmonary hypoplasia, Renal neoplasm... |
ORPHA:536467 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Unilateral renal agenesis, Optic nerve hypoplasia |
ORPHA:457284 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Anemia, Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase ... |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Anemia, Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase ... |
OMIM:618839 |
Celiac Disease, Susceptibility To, 1 |
|
Type I diabetes mellitus, Steatorrhea, Thrombocytosis, Macrocytic anemia, Iron deficiency anemia,... |
OMIM:212750 |
Farber Disease |
|
Recurrent upper respiratory tract infections, Nodular pattern on pulmonary HRCT, Diffuse reticula... |
ORPHA:333 |
Bladder Exstrophy |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Hypoplasia of penis, Epispadias, Abnor... |
ORPHA:93930 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Recurrent urinary tract infections, Unilateral renal agenesis, Ataxia, Hypospadias, Hearing impai... |
ORPHA:268261 |
Caudal Duplication Anomaly |
|
Ureteral duplication |
OMIM:607864 |
22Q11.2 Deletion Syndrome |
|
Small earlobe, Vesicoureteral reflux, Conductive hearing impairment, Optic atrophy, Aganglionic m... |
ORPHA:567 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Lissencephaly, Pachygyria, Recurrent lower respiratory tract infections, Atelectasis, Facial palsy |
ORPHA:258 |
Oculocerebrorenal Syndrome Of Lowe |
|
Glomerulopathy, Aminoaciduria, Atelectasis, Abnormal renal tubule morphology, Hematuria, Protrudi... |
ORPHA:534 |
Infant Botulism |
|
Hyponatremia |
ORPHA:178478 |
Kenny-Caffey Syndrome, Type 2 |
|
Anemia, Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia |
OMIM:127000 |
Toriello-Lacassie-Droste Syndrome |
|
Abnormality of the ear, Aganglionic megacolon, Epispadias, Abnormality of the bladder, Abnormalit... |
ORPHA:3339 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia |
ORPHA:29072 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Hypocalcemia, Hyperkalemia, Diabetes mellitus, Leukocytosis, Hyponatremia, Thro... |
ORPHA:544482 |
Caudal Duplication |
|
Renal hypoplasia/aplasia, Ureteral duplication, Abnormal penis morphology |
ORPHA:1756 |
Zollinger-Ellison Syndrome |
|
Hypercalcemia, Increased circulating cortisol level, Increased glucagon level |
ORPHA:913 |
Primary Familial Polycythemia |
|
Abnormal hemoglobin, Polycythemia |
ORPHA:90042 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypoplasia of the bladder, Bilateral lung agenesis, Renal agenesis, Pulmonary hypoplasia, Hypospa... |
OMIM:611812 |
Ureter, Bifid Or Double |
|
Ureteral duplication |
OMIM:191550 |
Glycogen Storage Disease Ixc |
|
Fasting hypoglycemia, Hypoglycemia, Hypertriglyceridemia, Splenomegaly |
OMIM:613027 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia, Aganglionic megacolon, Renal agenesis, Unilateral ... |
OMIM:308205 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ectopic kidney, Renal agenesis, Horseshoe kidney, Ureteral duplication |
OMIM:602200 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory tract infection, Atelectasis, Hearing impairment, Oligosacchariduria |
ORPHA:365 |
Stankiewicz-Isidor Syndrome |
|
Abnormal optic disc morphology, Hypospadias, Micropenis, Low-set ears, Hearing impairment, Ureter... |
OMIM:617516 |
Proboscis Lateralis |
|
Ureteral agenesis, Unilateral renal agenesis, Optic nerve hypoplasia, Duplication of renal pelvis... |
ORPHA:141099 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hypocalcemia, Hyperkalemia, Hyperphosphatemia |
ORPHA:99845 |
Pallister-Hall Syndrome |
|
Bilateral renal agenesis, Renal dysplasia, Microtia, Abnormal lung lobation, Unilateral renal age... |
ORPHA:672 |
Meckel Syndrome 12 |
|
Renal hypoplasia, Low-set ears, Ureteral hypoplasia, Bilateral renal agenesis |
OMIM:616258 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Neutropenia in presence of anti-neutropil antibodies, Type I diabetes... |
ORPHA:37042 |
Pallister-Hall Syndrome |
|
Atresia of the external auditory canal, Renal dysplasia, Microtia, Hydroureter, Abnormal lung lob... |
OMIM:146510 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Hypocalcemia |
OMIM:602361 |
Osteopetrosis, Autosomal Recessive 5 |
|
Anemia, Hyperbilirubinemia, Hypocalcemia, Pancytopenia, Hepatosplenomegaly, Hypochromic microcyti... |
OMIM:259720 |
Vacterl/Vater Association |
|
Multicystic kidney dysplasia, Aplasia/Hypoplasia of the lungs, Renal agenesis, Hypoplasia of peni... |
ORPHA:887 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hydroureter, Ataxia, Renal cyst, Ureteral stenosis, Nephrocalcinosis, Low-set ears, Hypercalciuria |
OMIM:615398 |
Castleman Disease |
|
Decreased mean corpuscular volume, Thrombocytopenia, Elevated circulating C-reactive protein conc... |
ORPHA:160 |
Baller-Gerold Syndrome |
|
Vesicoureteral reflux, Conductive hearing impairment, Abnormality of the ureter, Abnormal localiz... |
ORPHA:1225 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypophosphatemia, Hypocalcemia |
OMIM:600081 |
Hypouricemia, Renal, 1 |
|
Renal cortical hyperechogenicity, Urolithiasis, Uric acid nephrolithiasis, Acute kidney injury, R... |
OMIM:220150 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Abnormal circulating cholesterol concentration, Decreased circulating cortisol level, Hyperkalemi... |
ORPHA:168558 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Codas Syndrome |
|
Hydroureter, Sensorineural hearing impairment, Overfolded helix, Crumpled ear |
ORPHA:1458 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:241410 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Abnormal circulating cholesterol concentration, Decreased circulating cortisol level, Hyperkalemi... |
ORPHA:289548 |
Ppoma |
|
Hypercalcemia, Increased circulating cortisol level |
ORPHA:97278 |
Cystinosis, Nephropathic |
|
Reduced blood urea nitrogen, Glycosuria, Decreased plasma carnitine, Hypophosphatemia, Hypokalemi... |
OMIM:219800 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:264700 |
Schinzel-Giedion Syndrome |
|
Nephroblastoma, Infantile sensorineural hearing impairment, Low-set ears, Abnormality of the stap... |
ORPHA:798 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Hydroureter, Fetal megacystis |
OMIM:249210 |
Fanconi Anemia, Complementation Group B |
|
Renal agenesis, Abnormal lung lobation, Overfolded helix, Low-set ears, Micropenis |
OMIM:300514 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Pu... |
OMIM:208540 |
Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Hydroureter, Polycystic kidney dysplasia, Aganglionic megacolon, Pulmonary... |
OMIM:236700 |
Primary Hyperoxaluria Type 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Nephrocalcinosis, Ureteral obstruction, ... |
ORPHA:93599 |
Prune Belly Syndrome |
|
Congenital posterior urethral valve, Hydroureter, Hydronephrosis |
OMIM:100100 |
Eisenmenger Syndrome |
|
Hyperuricemia, Hypochromic microcytic anemia, Abnormal B-type natriuretic peptide concentration, ... |
ORPHA:97214 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia |
ORPHA:1563 |
Grfoma |
|
Hypercalcemia, Increased circulating cortisol level |
ORPHA:97261 |
Ureterocele |
|
Duplicated collecting system, Ureterocele |
OMIM:191650 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Abnormality of neuronal migration, Renal dysplasia, Enlarged kidney, Polycystic kidney dysplasia,... |
OMIM:608836 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99880 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperaldosteronism, Hypokalemia, Hyperchloriduria, Hypochloremia, Hyponatremia |
OMIM:602522 |
Raine Syndrome |
|
Hydroureter, Protruding ear, Pulmonary hypoplasia, Abnormal pinna morphology, Mixed hearing impai... |
OMIM:259775 |
Pearson Syndrome |
|
Anemia, Hyperalaninemia, Glycosuria, Hypophosphatemia, Hypokalemia, Hypocalcemia, Reticulocytosis... |
ORPHA:699 |
Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Hydronephrosis, Tubulointerstitial nephritis, Abnormal ureter morpho... |
ORPHA:449395 |
Parathyroid Carcinoma |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:143 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Vesicoureteral reflux, Hypoplasia of the bladder, Crossed fused renal ectopia, Hydroureter, Lop e... |
OMIM:300707 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94089 |
Japanese Encephalitis |
|
Neutrophilia, Hyponatremia |
ORPHA:79139 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
Exstrophy-Epispadias Complex |
|
Vesicoureteral reflux, Urinary incontinence, Renal duplication, Bladder exstrophy, Absent penis, ... |
ORPHA:322 |
Bartter Syndrome Type 4 |
|
Hyperaldosteronism, Hypokalemia, Increased circulating renin level, Hypochloremia, Hyponatremia, ... |
ORPHA:89938 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Holoprosencephaly |
|
Diabetes mellitus, Abnormality of the spleen, Hypoglycemia, Hyponatremia |
ORPHA:2162 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoketotic hypoglycemia, Hypocalcemia |
ORPHA:746 |
Gitelman Syndrome |
|
Diabetic ketoacidosis, Type II diabetes mellitus, Hypokalemia, Maternal diabetes, Insulin resista... |
ORPHA:358 |
Microphthalmia, Lenz Type |
|
Renal hypoplasia/aplasia, Hydroureter, External ear malformation, Hypospadias, Low-set, posterior... |
ORPHA:568 |
Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:437 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia/aplasia, Renal agenesis, Pleural ... |
ORPHA:3015 |
Peroxisome Biogenesis Disorder 4B |
|
Sensorineural hearing impairment, Optic atrophy, Ataxia, Decreased nerve conduction velocity, Ure... |
OMIM:614863 |
Bacterial Toxic-Shock Syndrome |
|
Increased circulating metamyelocyte count, Hypocalcemia, Elevated circulating creatine kinase con... |
ORPHA:36234 |
Visceral Steatosis, Congenital |
|
Hypocalcemia, Hypoglycemia |
OMIM:228100 |
17Q12 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureterocele, Renal insufficiency, Hearing... |
ORPHA:261265 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia |
OMIM:607143 |
Noonan Syndrome 4 |
|
Hydronephrosis, Low-set ears, Thickened helices, Posteriorly rotated ears, Ureteral duplication |
OMIM:610733 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hyperammonemia, Elevated circulating creatine kinase concentration |
OMIM:610505 |
Otopalatodigital Syndrome Type 2 |
|
Pulmonary hypoplasia, Hypospadias, Abnormal pinna morphology, Low-set ears, Ureteral obstruction,... |
ORPHA:90652 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal duplication, Aplasia of the bladder, Renal dysplasia, Microtia, Glomerular sclerosis, Urete... |
ORPHA:158684 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Vesicoureteral reflux, Renal agenesis, Lop ear, Ectopic kidney, Horseshoe kidney, Pulmonary arter... |
ORPHA:140952 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Glycosuria, Hypophosphatemia, Diabetes mellitus, Hypoglycemia, Hypouricemia |
OMIM:616026 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Low-set ears, Optic disc coloboma, Ureteral duplication |
OMIM:270420 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures |
ORPHA:289157 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:201810 |
Meckel Syndrome, Type 1 |
|
Hypoplasia of the bladder, Polycystic kidney dysplasia, Cystic renal dysplasia, Renal agenesis, P... |
OMIM:249000 |
Familial Dysautonomia |
|
Hyponatremia |
ORPHA:1764 |
Cat Eye Syndrome |
|
Vesicoureteral reflux, Renal agenesis, Horseshoe kidney, Total anomalous pulmonary venous return,... |
OMIM:115470 |
Oncogenic Osteomalacia |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
Granulomatous Disease, Chronic, X-Linked |
|
Pleural effusion, Recurrent pneumonia, Atelectasis, Air bronchogram |
OMIM:306400 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Urolithiasis, Uric acid nephrolithiasis, Sensorineural hearing impairment, Ataxia, Hypospadias, L... |
OMIM:300661 |
Sarcoidosis |
|
Leukopenia, Anemia, Hemolytic anemia, Increased T cell count, Hypercalcemia, Eosinophilia, Thromb... |
ORPHA:797 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypocalcemia, Hypoproteinemia, Splenomegaly |
OMIM:235255 |
Multiple Endocrine Neoplasia Type 2 |
|
Hypercalcemia |
ORPHA:653 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Prominent tragus, Prominent superior crus of antihelix, Congenital megaureter, Recurrent aspirati... |
ORPHA:280633 |
Koolen-De Vries Syndrome |
|
Vesicoureteral reflux, Renal duplication, Hypospadias, Overfolded helix, Ureteral duplication, Pr... |
ORPHA:96169 |
Cloacal Exstrophy |
|
Vesicoureteral reflux, Renal hypoplasia/aplasia, Hydroureter, Hypoplasia of penis, Ectopic kidney... |
ORPHA:93929 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Multicystic kidney dysplasia, Pneumothorax, Urinary retention, Recurrent urinary tract infections... |
ORPHA:79404 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Recurrent pneumonia, Macrotia, D-2-hydroxyglutaric aciduria, Unilateral renal agenesis |
ORPHA:99646 |
Familial Visceral Myopathy |
|
Vesicoureteral reflux, Hydroureter, Aganglionic megacolon, Megacystis, Low-set, posteriorly rotat... |
ORPHA:2604 |
Sanjad-Sakati Syndrome |
|
Hypocalcemia, Hyperphosphatemia |
ORPHA:2323 |
Noonan Syndrome 9 |
|
Hydroureter |
OMIM:616559 |
Liver Disease, Severe Congenital |
|
Leukopenia, Anemia, Hyperalaninemia, Lymphocytosis, Hyperbilirubinemia, Elevated hepatic iron con... |
OMIM:619991 |
Acute Intermittent Porphyria |
|
Hyponatremia |
ORPHA:79276 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Megacystis, Neonatal death, Fetal megacystis, Hydronephrosis |
OMIM:619362 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Macrotia, Urinary urgency, Unilateral renal agenesis, Recurrent otitis media, Chronic otitis medi... |
OMIM:619503 |
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome |
|
Urogenital sinus anomaly, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hydroureter, Ab... |
ORPHA:2973 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydronephrosis, Hydroureter, Abnormality of the upper urinary tract, Macrogyria, Lissencephaly, P... |
ORPHA:2995 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperaldosteronism, Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Marden-Walker Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia/aplasia, Abnormality of the kidne... |
ORPHA:2461 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypocalcemia, Hypoproteinemia, Splenomegaly, Hepatosplenomegaly |
ORPHA:1655 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hypokalemia, Hyponatremia |
OMIM:618426 |
Multiple Endocrine Neoplasia Type 1 |
|
Primary hypercortisolism, Hypercalcemia, Increased circulating cortisol level |
ORPHA:652 |
Atresia Of Urethra |
|
Vesicoureteral reflux, Renal dysplasia, Bladder fistula, Hydroureter, Recurrent urinary tract inf... |
ORPHA:105 |
Scalp-Ear-Nipple Syndrome |
|
Abnormal antihelix morphology, Underdeveloped antitragus, Small earlobe, Recurrent urinary tract ... |
ORPHA:2036 |
Carpenter Syndrome 1 |
|
Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Hydroureter, Abno... |
OMIM:201000 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia |
OMIM:618476 |
Fryns Syndrome |
|
Low-set ears, Aganglionic megacolon, Renal agenesis, Pulmonary hypoplasia, Renal cyst, Hypospadia... |
OMIM:229850 |
Peutz-Jeghers Syndrome |
|
Abnormality of the ureter, Bladder polyp |
OMIM:175200 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin, Elevated amniotic fluid alpha-fetoprotein |
ORPHA:423479 |
Double Outlet Right Ventricle |
|
Hypocalcemia |
ORPHA:3426 |
Pseudohypoparathyroidism Type 1C |
|
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:79444 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Neonatal death, Alveolar capillary dysplasia, Hydroureter, Pulmonary lymphangiectasia, Abnormal l... |
OMIM:265380 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyperglycemia, Hyperkalemia, Hyperlipidemia, Hyponatremia |
ORPHA:293987 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Enlarged kidney, Abnormal lung lobation, Pulmonary hypoplasia, Uretera... |
ORPHA:79328 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Renal duplication, Renal dysplasia, Urethral stricture, Hematuria, Urinary bladder inflammation, ... |
ORPHA:79403 |
Autosomal Dominant Hypocalcemia |
|
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia |
ORPHA:428 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia, Anemia |
ORPHA:163979 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Hyperkalemia, Neonatal hypoglycemia, Hypochloremia, Hyponat... |
ORPHA:90794 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hypersplenism, Hepatosplenomegaly, Increased serum bile acid concentration, Hyponatremia, Thrombo... |
ORPHA:731 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Anemia, Unconjugated hyperbilirubinemia, Pancytopenia, Hypoglycemia, Hypocalcemia, Hypoalbuminemia |
OMIM:613658 |
Osteopetrosis With Renal Tubular Acidosis |
|
Leukopenia, Anemia, Elliptocytosis, Hypocalcemia, Pancytopenia, Elevated circulating creatine kin... |
ORPHA:2785 |
Pentalogy Of Cantrell |
|
Hypospadias, Renal agenesis, Pulmonary hypoplasia, Renal dysplasia |
ORPHA:1335 |
Williams Syndrome |
|
Type II diabetes mellitus, Abnormal circulating lipid concentration, Hypercalcemia, Elevated circ... |
ORPHA:904 |
Microgastria-Limb Reduction Defect Syndrome |
|
Multicystic kidney dysplasia, Crossed fused renal ectopia, Abnormal cortical gyration, Renal dysp... |
ORPHA:2538 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Vesicoureteral reflux, Conductive hearing impairment, Renal dysplasia, Microtia, Hydroureter, Ren... |
OMIM:129900 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Renal dysplasia, Stage 5 chronic kidney disease, Acute kidney injury, Ataxia, Renal cyst, Reduced... |
OMIM:266920 |
Lead Poisoning |
|
Abnormal T cell morphology, Anemia, Imbalanced hemoglobin synthesis, Increased LDL cholesterol co... |
ORPHA:330015 |
Heterotaxy, Visceral, 5, Autosomal |
|
Bilateral trilobed lung, Pulmonary artery atresia, Partial anomalous pulmonary venous return, Ure... |
OMIM:270100 |
Schwartz-Jampel Syndrome |
|
Abnormality of the ureter, Abnormality of the urinary system, Low-set, posteriorly rotated ears, ... |
ORPHA:800 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Isotretinoin-Like Syndrome |
|
Hypocalcemia, Lymphopenia |
ORPHA:2306 |
Bardet-Biedl Syndrome 12 |
|
Hydroureter, Cystic renal dysplasia, Hydronephrosis |
OMIM:615989 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Steatorrhea, Thrombocy... |
OMIM:260400 |
Renal Agenesis, Bilateral |
|
Low-set ears, Renal agenesis, Pulmonary hypoplasia |
ORPHA:1848 |
Cartilage-Hair Hypoplasia |
|
Anemia, Neutropenia, Hypocalcemia |
ORPHA:175 |
Thoracoabdominal Syndrome |
|
Hypospadias, Renal agenesis, Pulmonary hypoplasia |
OMIM:313850 |
Khan-Khan-Katsanis Syndrome |
|
Vesicoureteral reflux, Sensorineural hearing impairment, Renal cyst, Renal hypoplasia, Ureteral d... |
OMIM:618460 |
Pseudohypoparathyroidism Type 1A |
|
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:79443 |
Williams-Beuren Syndrome |
|
Diabetes mellitus, Glucose intolerance, Hypercalcemia |
OMIM:194050 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hypophosphatemia, Anemia, Hypocalcemia, Splenomegaly |
ORPHA:667 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Hydronephrosis, Megacystis |
OMIM:619431 |
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Duplication of renal pelvis, Macrotia, Ureteral duplication |
ORPHA:457212 |
Ethylene Glycol Poisoning |
|
Hypocalcemia, Hyperkalemia |
ORPHA:31826 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic seizures, Anemia, Hyperphosphatemia, Hypocalcemic tetany |
ORPHA:93325 |
Exercise-Induced Malignant Hyperthermia |
|
Hyperphosphatemia, Hypocalcemia, Hyperkalemia, Elevated circulating creatine kinase concentration... |
ORPHA:466650 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Acute kidney injury, Renal cell carcinoma, Renal ag... |
ORPHA:93111 |
Tetraamelia Syndrome 1 |
|
Peripheral pulmonary vessel aplasia, Urethral atresia, Renal agenesis, Pulmonary hypoplasia, Low-... |
OMIM:273395 |
Sotos Syndrome |
|
Acute lymphoblastic leukemia, Hypercalcemia, Neonatal hypoglycemia |
ORPHA:821 |
White-Kernohan Syndrome |
|
Macrotia, Hydroureter, Recurrent otitis media, Horseshoe kidney, Simple ear, Low-set ears, Hydron... |
OMIM:619426 |
Igg4-Related Thyroid Disease |
|
Hypocalcemia |
ORPHA:64744 |
Thymic Aplasia |
|
Hypocalcemic tetany, T lymphocytopenia, Coombs-positive hemolytic anemia, Decreased proportion of... |
ORPHA:83471 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Vesicoureteral reflux, Renal dysplasia, Microtia, Hydroureter, Renal agenesis, Bladder diverticul... |
OMIM:604292 |
Frontometaphyseal Dysplasia 1 |
|
Hydroureter, Sensorineural hearing impairment, Hearing impairment, Hydronephrosis |
OMIM:305620 |
Hardikar Syndrome |
|
Vesicoureteral reflux, Hypoplasia of the bladder, Recurrent urinary tract infections, Hydroureter... |
OMIM:301068 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Hydroureter, Multicystic kidney dysplasia, Megacystis |
ORPHA:2241 |
Thymoma |
|
Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia, Leukemia |
ORPHA:99867 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating renin level, Decreased circulating cortisol level, Hyperkalemia, Hypoglycem... |
OMIM:201750 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Hydroureter, Hearing impairment, Posteriorly rotated ears |
OMIM:610759 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
Velocardiofacial Syndrome |
|
Hypocalcemia |
OMIM:192430 |
Restrictive Dermopathy 1 |
|
Pulmonary hypoplasia, Hypospadias, Stillbirth, Low-set ears, Neonatal death, Ureteral duplication |
OMIM:275210 |
Hennekam Syndrome |
|
Hypocalcemia, Splenomegaly, Lymphopenia |
ORPHA:2136 |
Acrodysostosis With Multiple Hormone Resistance |
|
Diabetes mellitus, Hypocalcemia, Hyperphosphatemia |
ORPHA:280651 |
Diphallia |
|
Renal duplication, Renal malrotation, Penoscrotal transposition, Epispadias, Hypospadias, Bifid p... |
ORPHA:227 |
Early Infantile Epileptic Encephalopathy |
|
Renal dysplasia, Choreoathetosis, Episodic ataxia, Ureterocele, Pachygyria, Micropenis |
ORPHA:1934 |
Craniofacioskeletal Syndrome |
|
Hypocalcemia |
OMIM:300712 |
Cardiac Valvular Dysplasia 1 |
|
Pulmonary artery atresia, Hydroureter, Urethral diverticulum, Hydronephrosis |
OMIM:212093 |
Oeis Complex |
|
Vesicovaginal fistula, Hydroureter, Renal agenesis, Epispadias, Duplicated collecting system, Pel... |
OMIM:258040 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:847 |
Poland Syndrome |
|
Vesicoureteral reflux, Renal hypoplasia/aplasia, Abnormality of the outer ear, Hypospadias, Dupli... |
ORPHA:2911 |
Frontometaphyseal Dysplasia |
|
Conductive hearing impairment, Sensorineural hearing impairment, Urethral stenosis, Mixed hearing... |
ORPHA:1826 |
Coffin-Siris Syndrome 1 |
|
Gait ataxia, Hydroureter, Ectopic kidney, Hypospadias, Abnormal pinna morphology, Renal hypoplasi... |
OMIM:135900 |
Peters Plus Syndrome |
|
Renal duplication, Multicystic kidney dysplasia, Conductive hearing impairment, Optic atrophy, Re... |
ORPHA:709 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Hydroureter, Hypospadias, Ureteral stenosis, Low-set ears, Micropenis, Hydronephrosis |
OMIM:269150 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Low-set ears, Microtia, Hypospadias, Ureterocele, Uplifted earlobe, Overfolded helix, Posteriorly... |
OMIM:616734 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:301040 |
Beckwith-Wiedemann Syndrome |
|
Nephroblastoma, Vesicoureteral reflux, Congenital megaureter, Otosclerosis, Enlarged kidney, Neph... |
ORPHA:116 |
Fanconi Anemia |
|
Hearing abnormality, Abnormal preputium morphology, Recurrent urinary tract infections, Renal hyp... |
ORPHA:84 |
Occipital Horn Syndrome |
|
Orthostatic hypotension, Ureteral obstruction, Bladder diverticulum, Hydronephrosis |
OMIM:304150 |
Simpson-Golabi-Behmel Syndrome |
|
Nephroblastoma, Multicystic kidney dysplasia, Hydroureter, Hypoplasia of penis, Hypospadias, Low-... |
ORPHA:373 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Macrotia, Abnormality of the kidney, Abnormality of the upper urinary tract, Hydroureter, Agangli... |
ORPHA:2273 |
Restrictive Dermopathy |
|
Low-set ears, Hypospadias, Ureteral duplication, Pulmonary hypoplasia |
ORPHA:1662 |
Microphthalmia, Syndromic 1 |
|
Renal hypoplasia/aplasia, Hydroureter, Aganglionic megacolon, Pulmonary hypoplasia, Recurrent oti... |
OMIM:309800 |
Meckel Syndrome |
|
Urethral atresia, Multicystic kidney dysplasia, Optic atrophy, Low-set, posteriorly rotated ears,... |
ORPHA:564 |
Cranioectodermal Dysplasia 1 |
|
Hypocalcemia |
OMIM:218330 |
Thrombocytopenia-Absent Radius Syndrome |
|
Vesicoureteral reflux, Renal malrotation, Axial malrotation of the kidney, Horseshoe kidney, Dila... |
OMIM:274000 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Abnormal tragus morphology, Abnormality of the kidney, Abnormality of the upper urinary tract, Hy... |
ORPHA:2636 |
Craniofacial Microsomia |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Conductive hearing impairment, Sensorineural... |
OMIM:164210 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Glycosuria, Ureteral duplication, Pulmonary artery stenosis |
OMIM:600001 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication, Pulmonary artery stenosis |
ORPHA:2255 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia |
ORPHA:289176 |
Focal Dermal Hypoplasia |
|
Bifid ureter, Optic atrophy, Horseshoe kidney, Mixed hearing impairment, Low-set ears, Stenosis o... |
OMIM:305600 |
Johanson-Blizzard Syndrome |
|
Diabetes mellitus, Hypocalcemia, Increased VLDL cholesterol concentration |
OMIM:243800 |
Peters-Plus Syndrome |
|
Microtia, second degree, Hypospadias, Hearing impairment, Posteriorly rotated ears, Renal hypopla... |
OMIM:261540 |
Charge Syndrome |
|
Hypocalcemia, Lymphopenia |
OMIM:214800 |