Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Oculogyric crisis, Pulmonary em... |
ORPHA:94093 |
Chronic Bilirubin Encephalopathy |
|
Central apnea, Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neo... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Central apnea, Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neo... |
ORPHA:529799 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperglutaminemia, Low plasma citrulline, Tachypnea, Jaundice, Hyperammonemia, Hyperprolinemia, H... |
OMIM:615751 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Abnormal pattern of ... |
ORPHA:3008 |
Webb-Dattani Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... |
OMIM:615926 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Bicuspid aortic valve, Tremor, Decreased serum creatinine, Hypohomocysteine... |
OMIM:617744 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar... |
ORPHA:91354 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Elevated circulating creatinine conce... |
OMIM:617872 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia, Pulmonic stenosis, Multiple muscular ventricular septal defects |
OMIM:615508 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Respiratory insufficiency, Leukopen... |
OMIM:613845 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia, Abnormal salivary gland morphology |
ORPHA:3225 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Dilated cardiomyopathy, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia |
OMIM:616949 |
Legionnaires Disease |
|
Hyponatremia, Pericarditis, Splenomegaly, Myocarditis, Jaundice, Hepatitis, Endocarditis, Lymphad... |
ORPHA:549 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Clitoral hypertrophy, Hypospadias, Female external genitalia in individual with 46,... |
ORPHA:90791 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Pneumonia, Elevated circulating C-reactive protein concent... |
OMIM:619381 |
Preeclampsia |
|
Elevated circulating creatinine concentration, Abnormality of the hepatic vasculature, Thrombocyt... |
ORPHA:275555 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Increased circulating fe... |
OMIM:235200 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia, Secundum atrial septal defect, Clitoral hypertrophy, Fused labia minora |
OMIM:608688 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin co... |
OMIM:603553 |
Mirage Syndrome |
|
Hyponatremia, Hypospadias, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Hype... |
OMIM:617053 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Jaundice, Hyperammonemia, Iron deficiency anemia, Abnormality of the ... |
ORPHA:1667 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Wheezing, Recurrent tonsillitis, Hyperkalemia, Increased circulating renin level, C... |
ORPHA:171876 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidis... |
OMIM:201810 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Endometrial carcinoma, Adrenal hyperplasia, Pneumonia, Male pseudohermaphroditism, ... |
ORPHA:90790 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Dyspnea, Microangiopathic hemolytic anemia, Decreased serum creatinine, Thromboc... |
ORPHA:54057 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremia |
ORPHA:223 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Cryptorchidism, Precocious puberty, Hyperkalemia |
OMIM:614736 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia, Apnea |
OMIM:240200 |
Necrotizing Enterocolitis |
|
Hyponatremia, Apnea, Leukocytosis, Peritonitis, Abnormal heart morphology, Neutropenia, Thrombocy... |
ORPHA:391673 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal erythrocyte enzyme level, Abnormal circulating porphyrin concentration, Re... |
ORPHA:100924 |
Colchicine Poisoning |
|
Hyponatremia, Respiratory distress, Myocarditis, Leukocytosis, Abnormal blood ion concentration, ... |
ORPHA:31824 |
Snakebite Envenomation |
|
Hyponatremia, Epistaxis, Respiratory failure, Respiratory paralysis, Hypopituitarism, Thrombocyto... |
ORPHA:449285 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Abnormal external genitalia, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Elevated circulating luteinizing hormone level, Female external genitalia in indivi... |
ORPHA:168558 |
Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Respiratory insufficiency, Hepatocell... |
ORPHA:79273 |
Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Crackles, Pericardial effusion, Nonproduct... |
ORPHA:79126 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Elevated circulating luteinizing hormone level, Female external genitalia in indivi... |
ORPHA:289548 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia, Dystonia |
ORPHA:163921 |
Whipple Disease |
|
Hyponatremia, Hepatomegaly, Pericarditis, Mediastinal lymphadenopathy, Splenomegaly, Myocarditis,... |
ORPHA:3452 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Abnormal external genitalia, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Tremor |
OMIM:612736 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Respiratory failure requiring assisted ventilation, Neutrophilia, Elevated circulat... |
ORPHA:1930 |
Hartsfield Syndrome |
|
Hypospadias, Cryptorchidism, Gonadotropin deficiency, Micropenis, Hypernatremia |
OMIM:615465 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes |
OMIM:269920 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Hyperammonemia, Pleural effusion, Dystonia, Hyperalaninemia, ... |
OMIM:614702 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia,... |
OMIM:300200 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hepatomegaly, Elevated circulating creatine kinase concentration, Tremor, Dyspnea, ... |
OMIM:610505 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Thrombocytopenia |
ORPHA:858 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Elevated circulating creatinine concentration, Respiratory distress |
OMIM:616733 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Respiratory insuf... |
ORPHA:682 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
Chédiak-Higashi Syndrome |
|
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremi... |
ORPHA:167 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
Pseudo-Torch Syndrome 3 |
|
Apnea, Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, R... |
OMIM:618886 |
Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Leukocytosis, Increased DLCO, Elevat... |
ORPHA:90060 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Vanishing testis, El... |
OMIM:273250 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomeg... |
OMIM:212140 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
Nephronophthisis 2 |
|
Situs inversus totalis, Elevated circulating creatinine concentration, Hyperkalemia, Respiratory ... |
OMIM:602088 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Cryptorchidism, Elevated circulating creatinine concentration, Cholestasis, Anemia,... |
OMIM:608104 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Leukocytosis, Thrombocytopenia, Goiter |
ORPHA:83601 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... |
OMIM:612965 |
Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Cryptorchidism, Hypoalbuminemia, Hypoca... |
OMIM:618183 |
Coach Syndrome 2 |
|
Congenital hepatic fibrosis, Elevated circulating creatinine concentration, Apneic episodes in in... |
OMIM:619111 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Dextrocardia, Elevated circulating alpha-fetoprotein concentration, Situs inversus ... |
OMIM:613095 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Precocious puberty, Cryptorchidism, Hyperkalemia, Testicular adrenal rest tumor, Az... |
ORPHA:361 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia, Hepatitis, Prolonged neonatal jaundice |
ORPHA:199296 |
Congenital Myopathy 8 |
|
Reduced vital capacity, Respiratory insufficiency, Cardiomegaly |
OMIM:618654 |
Osteopetrosis, Autosomal Recessive 9 |
|
Elevated circulating creatinine concentration, Hyperparathyroidism, Hyperkalemia, Anemia |
OMIM:620366 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly, Hyperprolinemia, Pulmonary arterial hypertension, Hyperalaninemia |
OMIM:619064 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Apnea, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ca... |
OMIM:608800 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia |
OMIM:617056 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Hypercalcemia, Eosinophil... |
ORPHA:199299 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia |
OMIM:264350 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Neonatal respiratory distress, Cryptorchidism, Hyperkalemia, Anemia |
ORPHA:97362 |
Pituitary Apoplexy |
|
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
ORPHA:95613 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly |
OMIM:619170 |
Relapsing Fever |
|
Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Thrombocytopenia,... |
ORPHA:91547 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Hypocalcemia, Lymphocytosis, Elevat... |
OMIM:619991 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Agonadism, Sex rev... |
OMIM:154230 |
Shigellosis |
|
Hyponatremia, Pneumonia, Myocarditis, Leukocytosis, Peritonitis, Abnormal blood ion concentration... |
ORPHA:810 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Pulmonary arterial hypertension, Hyperalan... |
OMIM:619051 |
Adenohypophysitis |
|
Hyponatremia, Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency... |
ORPHA:95512 |
Panhypophysitis |
|
Hyponatremia, Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency... |
ORPHA:95513 |
Alg8-Cdg |
|
Hyponatremia, Thrombocytopenia, Anemia |
ORPHA:79325 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Tachypnea, Hypera... |
OMIM:201475 |
Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditi... |
ORPHA:615 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration, Bronchiectasis, Cough |
OMIM:619468 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Reticulocytosis, Tremor, Jaundice, Schistocytosis, Elevated circulating cre... |
OMIM:274150 |
Alg12-Cdg |
|
Hyponatremia, Hypospadias, Cryptorchidism, Muscular ventricular septal defect, Recurrent pneumoni... |
ORPHA:79324 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:247353 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Ago... |
ORPHA:983 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... |
ORPHA:90038 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal... |
ORPHA:465508 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Neonatal respiratory distress, Apnea, Elevated circulating creatine kinase concentr... |
OMIM:608836 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Porphyria Variegata |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Abnormality of the liver, Respiratory... |
ORPHA:79473 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hyposp... |
OMIM:618280 |
Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ... |
ORPHA:85451 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Septate vagina, Uterus didelphys, Abnormal heart morphology, Parathyroid hypo... |
ORPHA:2237 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat... |
OMIM:300280 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Crackles, Cardiomegaly, Dyspnea, Hepatosplenomegaly, Iron deficiency anemia, Restri... |
ORPHA:99931 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Aminoaciduria, Hypocalcemia |
OMIM:617913 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, D... |
ORPHA:42 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
Japanese Encephalitis |
|
Hyponatremia, Respiratory distress, Neutrophilia, Tremor, Opisthotonus, Choreoathetosis, Pill-rol... |
ORPHA:79139 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia |
OMIM:620157 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly |
OMIM:618838 |
Premature Ovarian Failure 7 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Ele... |
OMIM:612964 |
Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom... |
OMIM:256550 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo... |
ORPHA:90793 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... |
OMIM:255120 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplenism, Microvesicular hepatic... |
ORPHA:275761 |
Holoprosencephaly |
|
Hyponatremia, Hypoplasia of penis, Ventricular septal defect, Abnormal pulmonary valve morphology... |
ORPHA:2162 |
Cholera |
|
Hyponatremia, Tachypnea, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Aspiration ... |
ORPHA:173 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... |
OMIM:618652 |
Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating luteinizing hormone... |
ORPHA:99429 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Fused labia majora, Hypogonadotropic hypogonadism, Abnormal external genitalia, Pre... |
ORPHA:90794 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... |
OMIM:603903 |
Fixed Subaortic Stenosis |
|
Orthopnea, Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Dyspnea, Abnormal hear... |
ORPHA:3092 |
Timothy Syndrome |
|
Ventricular septal defect, Pneumonia, Cardiomegaly, Hypocalcemia, Pulmonary arterial hypertension... |
OMIM:601005 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Anemia, Leukopenia, Hypoplasia of the uterus, Bone marrow hypocellularity... |
OMIM:619151 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Elevated circulating creatinine concentration, Supernumerary nipple, Restrictive ve... |
OMIM:614376 |
Partial Androgen Insensitivity Syndrome |
|
Fused labia majora, Bifid scrotum, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein... |
ORPHA:90797 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased HDL cholesterol concentration, Pineal cyst, Iron deficiency anemia, Decreased serum cre... |
OMIM:618885 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomegaly, Pericardial effus... |
ORPHA:555874 |
Meacham Syndrome |
|
Hypoplasia of penis, Ambiguous genitalia, Ventricular septal defect, Situs inversus totalis, Abno... |
ORPHA:3097 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Severe B lymphocytopenia, Decreased response to growth hormone stimulation test, Au... |
ORPHA:293978 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
Diethylstilbestrol Syndrome |
|
Central apnea, Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchi... |
ORPHA:1916 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Infant Botulism |
|
Hyponatremia, Dyspnea, Respiratory insufficiency due to muscle weakness |
ORPHA:178478 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Dystonia, Anisocytosis,... |
OMIM:618278 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Cardiomegal... |
ORPHA:57777 |
Addison Disease |
|
Hyponatremia, Normocytic anemia, Hypoparathyroidism, Primary testicular failure, Hypercalcemia, T... |
ORPHA:85138 |
Sheehan Syndrome |
|
Hyponatremia, Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency... |
ORPHA:91355 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:214700 |
Cystinosis, Nephropathic |
|
Hyponatremia, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Reduced blood urea nitrogen,... |
OMIM:219800 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... |
OMIM:618117 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612926 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Aminoacid... |
ORPHA:411634 |
Mogs-Cdg |
|
Respiratory distress, Hepatomegaly, Hypoventilation, Apnea, External genital hypoplasia, Cardiome... |
ORPHA:79330 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612924 |
Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Hyperammonemia, Choreoathetosis, Dystonia, Hypertrophic cardiomyopathy |
ORPHA:391428 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp... |
OMIM:614129 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Elevated circulating creatine kinase concentration, Pneumonia, M... |
ORPHA:36234 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, H... |
OMIM:602782 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612925 |
Acute Intermittent Porphyria |
|
Hyponatremia, Tremor, Respiratory insufficiency, Respiratory paralysis, Hepatocellular carcinoma,... |
ORPHA:79276 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Pneumonia, Myocarditis, Leukocytosis, Dyspnea, Hyperkalemia, Pleu... |
ORPHA:544482 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... |
OMIM:232300 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Tremor, Cryptorchidism, Respiratory failure, Atrial septal defect, ... |
OMIM:620327 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... |
OMIM:617690 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Rabin-Pappas Syndrome |
|
Hyponatremia, Hypoventilation, Tracheomalacia |
OMIM:620155 |
Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
Proteus-Like Syndrome |
|
Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries |
ORPHA:2969 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Respiratory distress, Cardiomegaly, Pericardial effusion, ... |
OMIM:115197 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Normocytic anemia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, ... |
ORPHA:95409 |
Mulibrey Nanism |
|
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
Coronary Arterial Fistula |
|
Orthopnea, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Abnormal heart morphology, Right ventr... |
ORPHA:2041 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype... |
ORPHA:29073 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great a... |
OMIM:306955 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Pneumonia, Nodular regenerative hyperplasia of liver, Elevated circulating cre... |
ORPHA:247691 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
Hydatidiform Mole |
|
Enlarged uterus, Anemia |
ORPHA:99927 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Cardiomegaly, Pneumothorax, Glandular hypospadias, Abnormal circulating cer... |
OMIM:620306 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Microphthalmia, Syndromic 9 |
|
Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Multilobu... |
OMIM:601186 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Mitral valve prolapse, Hepatosplenomegaly |
ORPHA:309155 |
Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... |
OMIM:612310 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... |
OMIM:619665 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:613090 |
Isolated Anencephaly |
|
Thymus hyperplasia |
ORPHA:563609 |
Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level |
OMIM:617442 |
C3 Glomerulopathy |
|
Elevated circulating creatinine concentration |
ORPHA:329918 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... |
OMIM:235400 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... |
OMIM:619203 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Neonatal respiratory distress, Elevated circulating creatine kinase concentration, ... |
ORPHA:228308 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Elevated circulating creatinine concentration, Biliary tract abnormality, Hypoplasia... |
OMIM:137920 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ... |
ORPHA:324410 |
Sandhoff Disease |
|
Hepatomegaly, Exaggerated startle response, Cardiomegaly, Hepatosplenomegaly |
OMIM:268800 |
Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... |
ORPHA:95430 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Chronic pulmonary obstruction, Elevated circulating creatinine concentration, Hyp... |
ORPHA:439232 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Elevated ... |
ORPHA:308552 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachypnea, Elevated circulating creatinine concentration, Hypoxemia, Respiratory failure, Hyperbi... |
ORPHA:542323 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus |
OMIM:617022 |
Autosomal Dominant Polycystic Kidney Disease |
|
Polycystic liver disease, Hepatic cysts, Pancreatic cysts, Elevated circulating creatinine concen... |
ORPHA:730 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hyperparathyroidism, Hypoammonemia, Cryptorchidism, Respiratory insufficiency, Anem... |
ORPHA:534 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... |
OMIM:614837 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Pleural effusion, Hypertrophic ... |
OMIM:616897 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Elevated circulating creatinine concentration |
OMIM:615605 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Recurrent pneumonia, Cardiomegaly |
ORPHA:3137 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal de... |
ORPHA:1329 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesi... |
OMIM:201750 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Card... |
OMIM:614921 |
Refsum Disease, Classic |
|
Cardiomyopathy, Elevated circulating phytanic acid concentration, Cardiomegaly |
OMIM:266500 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L... |
OMIM:617713 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Respiratory distress, Neonatal respiratory distress, Apnea, Hypopnea, Hypokalemia |
OMIM:618426 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Hepatomegaly, Apnea, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia... |
OMIM:608013 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Elevated circulating creati... |
OMIM:617478 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Dyspnea, Muscular ventricular septal defect, Hypoxemia, Atrial septal defect, Paten... |
ORPHA:439 |
Dopamine Beta-Hydroxylase Deficiency |
|
Dyspnea, Elevated circulating creatinine concentration, Rhinitis, Increased blood urea nitrogen, ... |
ORPHA:230 |
Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia, Dystonia |
ORPHA:79233 |
Familial Dysautonomia |
|
Hyponatremia, Abnormal peritoneum morphology |
ORPHA:1764 |
Marburg Hemorrhagic Fever |
|
Reticulocytosis, Lymphopenia, Pericarditis, Elevated circulating creatine kinase concentration, H... |
ORPHA:99826 |
Tay-Sachs Disease |
|
Exaggerated startle response, Increased serum beta-hexosaminidase, Precocious puberty, Tremor, He... |
ORPHA:845 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Apnea, Oculogyric crisis, Limb tremor, Cardiorespirato... |
OMIM:608643 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Abnormal cardiac septum morphology, Tetralogy of Fallot, Thrombocytopenia |
ORPHA:3320 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... |
OMIM:158330 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hypoventilation, Decreased response to growth hormone stimulation test, Central hyp... |
ORPHA:293987 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Elevated circulating creatine kinase concentration, Dilated cardiom... |
OMIM:253800 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Abnormality of the uterus, Hypoplasia of the ovary, Abnormality of the ... |
ORPHA:3130 |
Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... |
ORPHA:3427 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Septate vagina, Uterus didelphys, Aplasia of the vagina, Aplasia of the uterus |
OMIM:146255 |
Perrault Syndrome 4 |
|
Hypoplasia of the uterus, Increased circulating gonadotropin level, Hypoplasia of the ovary, Bico... |
OMIM:615300 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Mildly elevated creatine kinase |
OMIM:600705 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morp... |
ORPHA:363705 |
Meckel Syndrome 14 |
|
Pneumothorax, Cardiorespiratory arrest, Hepatic fibrosis, Aplasia of the uterus, Ambiguous genita... |
OMIM:619879 |
Igg4-Related Kidney Disease |
|
Pericarditis, Eosinophilia, Elevated circulating C-reactive protein concentration, Retroperitonea... |
ORPHA:449395 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Pulmonary arterial hypertension, Tachypnea, Cardiomegaly |
OMIM:613320 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
OMIM:601076 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Reticulocytosis, Hepatomegaly, Acanthocytosis, Cardiomeg... |
ORPHA:14 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Familial Aortic Dissection |
|
Exertional dyspnea, Paroxysmal dyspnea, Cardiomegaly |
ORPHA:229 |
Hyperekplexia 3 |
|
Respiratory arrest, Exaggerated startle response, Apnea |
OMIM:614618 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... |
ORPHA:49041 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Neonatal respiratory distress, Thymus hyperplasia, Chylothorax |
OMIM:619036 |
Müllerian Aplasia And Hyperandrogenism |
|
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary |
ORPHA:247768 |
Danon Disease |
|
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... |
OMIM:300257 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Thrombocytopenia, Leukocytosis, Dyspnea, Hyperkalemia... |
ORPHA:340 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Tremor, Cardiomyopathy, Intention tremor, Cardiomegaly |
OMIM:105210 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:602522 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... |
ORPHA:432 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypophosphatemic rickets, Neonatal respiratory distress, Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Uterine prolapse, Exaggerated startle response, Bicuspid aortic valve, Ventricul... |
ORPHA:438213 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Cardiomegaly, Precocious ... |
ORPHA:96191 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia |
ORPHA:89938 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Exaggerated startle response |
OMIM:618201 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Anemia, Opisthotonus |
OMIM:184850 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Aspiration pneumonia, Dystonia |
ORPHA:79255 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Secundum atrial septal defect, Prim... |
OMIM:619534 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia, Respiratory failure |
OMIM:618252 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia, Anemia |
OMIM:174000 |
Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Tachypnea, Abnormal hea... |
ORPHA:3384 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Dystonia |
OMIM:230000 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Decreased sensitivity to hypoxemia, Elevated circulating creatinine concentration, Increased bloo... |
OMIM:223900 |
Estrogen Resistance |
|
Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries |
OMIM:615363 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... |
ORPHA:3464 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Woodhouse-Sakati Syndrome |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... |
OMIM:241080 |
Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration, Anemia |
OMIM:266900 |
Hyperekplexia 1 |
|
Aspiration, Exaggerated startle response, Apnea |
OMIM:149400 |
Absence Of The Pulmonary Artery |
|
Orthopnea, Cardiomegaly, Nonproductive cough, Dyspnea, Recurrent pneumonia, Bronchiectasis, Abnor... |
ORPHA:980 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei... |
ORPHA:90796 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Apnea, Truncal titubation |
OMIM:618056 |
Cardiogenic Shock |
|
Increased pulmonary capillary wedge pressure, Crackles, Dyspnea, Elevated circulating creatinine ... |
ORPHA:97292 |
Ogden Syndrome |
|
Bicuspid aortic valve, Apnea, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic... |
OMIM:300855 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Fucosidosis |
|
Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly |
ORPHA:349 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Apnea, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen co... |
OMIM:261740 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Breast hypoplasia, Hypopla... |
ORPHA:785 |
Oligomeganephronia |
|
Secundum atrial septal defect, Elevated circulating creatinine concentration |
ORPHA:2260 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cryptorchidism, Cardiomegaly |
OMIM:618143 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Tachypnea, Polycystic ovaries, Cough |
ORPHA:137675 |
Tay-Sachs Disease |
|
Aspiration, Exaggerated startle response |
OMIM:272800 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ventricular septal defect, Eosinophilia, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, Anem... |
OMIM:274000 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Adenoiditis, Splenomegaly, Recurrent tonsillitis, Upper airway obstru... |
ORPHA:581 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Increased hepatic glycogen content, Cardiomegaly |
OMIM:619259 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Elevated circulating creatine kinase concentration, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
Pauci-Immune Glomerulonephritis |
|
Dyspnea, Elevated circulating creatinine concentration, Granulomatosis, Cough, Pancreatitis |
ORPHA:93126 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Tremor, C... |
OMIM:300967 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Hepatomegaly, Orthopnea, Elevated circulating creatine kinase concentration... |
ORPHA:365 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Orthopnea, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement,... |
ORPHA:75565 |
Gm2-Gangliosidosis, Ab Variant |
|
Aspiration, Exaggerated startle response, Dystonia |
OMIM:272750 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla... |
OMIM:130650 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Recurrent pneumoni... |
OMIM:252500 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Hypospadias, Ovotestis, Hypoplasia of the uterus, Ch... |
OMIM:309801 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Dyspnea, Right ventricular hypertrophy, Abnormality of the hepatic va... |
ORPHA:1677 |
Aicardi-Goutières Syndrome |
|
Dystonia, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Tremor, Chronic lymphatic leukemia,... |
ORPHA:51 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Elevated circulating... |
OMIM:256040 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Respiratory failure, Cardiomegaly |
ORPHA:158687 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Hypospadias, Ventricular septal defect, Bifid uterus, Complete atrioventricular... |
OMIM:236680 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypop... |
OMIM:618419 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
Oeis Complex |
|
Bifid uterus, Cryptorchidism, Epispadias, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... |
OMIM:258040 |
Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Fanconi Anemia, Complementation Group L |
|
Aplasia of the uterus, Micropenis, Bone marrow hypocellularity, Anemia |
OMIM:614083 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Exaggerated startle response, Dystonia |
ORPHA:438216 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Spontaneous pneumothorax, Repeated pneumothoraces, Cryptorchidism, Cystocele, Pn... |
OMIM:130050 |
Okamoto Syndrome |
|
Ventricular septal defect, Bifid uterus, Splenomegaly, Abnormal left ventricle morphology, Primum... |
ORPHA:2729 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Papillorenal Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:120330 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Respiratory failure, Apnea, Exaggerated startle response |
OMIM:617301 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Cardiomegaly, Cryptorchidism,... |
ORPHA:116 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:617914 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulati... |
OMIM:609441 |
Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response, Respiratory insufficiency, Hypoasparaginemia |
OMIM:615574 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Abnormal thymus morphology, Cardiomegaly |
ORPHA:2463 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:616258 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
Yellow Fever |
|
Acute pancreatitis, Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosi... |
ORPHA:99829 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... |
ORPHA:99125 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Apnea, Respiratory insufficiency, Dystonia |
ORPHA:521426 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
Bohring-Opitz Syndrome |
|
Apnea, Cardiomegaly, Abnormal cardiac septum morphology, Cholelithiasis, Annular pancreas |
ORPHA:97297 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response |
OMIM:616881 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus |
ORPHA:1521 |
Limb-Mammary Syndrome |
|
Absent nipple, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nipples, Aplasia of the u... |
ORPHA:69085 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Bifid uterus, Cryptorchidism, Epispadias, Cystocele, Penoscrotal transposition, Ab... |
ORPHA:322 |
Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia |
OMIM:271520 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Apnea, Respiratory insufficiency |
OMIM:617527 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Pneumothorax, Paroxysmal dyspnea, Exertional dyspnea |
ORPHA:91387 |
Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus |
OMIM:614527 |
Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Pulmonary embolism, Enlarged polycystic ovaries, Splenom... |
ORPHA:744 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response |
OMIM:617864 |
Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Cryptorchidism, Hypoplastic labia majora, C... |
ORPHA:3472 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Ventricular septal defect, Hypospadias, Precocious puberty, Cryptorchidism, Bil... |
OMIM:194190 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, C... |
ORPHA:904 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Hypoplasia of the uterus, Increased circulating gonadotropin level |
OMIM:110100 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Ventricular septal defect, Hypospadias, Cryptorchidism, Hydrocele t... |
OMIM:619522 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the vagina, Aplasia of the uterus |
ORPHA:457284 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... |
ORPHA:91500 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Bifid uterus, Cryptorchidism, Transposition of the great arteries, Pat... |
OMIM:256520 |
Coffin-Siris Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Aplasia of the uterus, Atrial septal defe... |
OMIM:135900 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Rectoperineal fistula, Ventricular septal defect, Hypospadias, Bifid uterus, Crypt... |
OMIM:107480 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Respiratory distress, Cardiomegaly, Pericardial effusion, Myocardial cal... |
ORPHA:51608 |
Vascular Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Hypospadias, Cryptorchidism, Cystocele, Pneumothorax, Respirator... |
ORPHA:286 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pol... |
ORPHA:572333 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Peters Plus Syndrome |
|
Hypospadias, Cryptorchidism, Bicuspid pulmonary valve, Hypoplasia of the uterus, Clitoral hypopla... |
ORPHA:709 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... |
OMIM:276820 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Ventricular septal defect, Bilobate gallbladder, Hypospadias, Cryptorch... |
OMIM:261540 |
Pallister-Killian Syndrome |
|
Small scrotum, Ventricular septal defect, Hypospadias, Supernumerary nipple, Cryptorchidism, Hypo... |
OMIM:601803 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Pleural effusion, Subvalvul... |
OMIM:182250 |
Norrie Disease |
|
Cryptorchidism, Uterine rupture |
ORPHA:649 |