| Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
| Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
| Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Diamond-Blackfan Anemia-Like |
|
Pure red cell aplasia, Steroid-responsive anemia |
OMIM:617911 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration |
ORPHA:2843 |
| Schizencephaly |
|
Cerebral cortical atrophy, Schizencephaly, Agenesis of corpus callosum |
OMIM:269160 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Hemoglobin D Disease |
|
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... |
ORPHA:90039 |
| Refractory Celiac Disease |
|
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Oste... |
ORPHA:398063 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Anemia, Hemophagocyt... |
OMIM:267700 |
| Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Hydrocephalus, Polymicrogyria, Ven... |
OMIM:604213 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Hypoalbuminemia, Obesity, Craniosynostosis |
ORPHA:88643 |
| Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Increased serum bile acid concentration, Increased total bilirubin, Failure to thri... |
OMIM:619868 |
| X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Ataxia, Anemia |
ORPHA:2802 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... |
ORPHA:263458 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Pancytopenia, Hypoproteinemia, Incr... |
OMIM:603553 |
| Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Dysplastic corpus callosum, Secondary microcephaly, Inability to walk, Reduced cerebral white mat... |
OMIM:620317 |
| Immunodeficiency 115 With Autoinflammation |
|
Anemia, Elevated circulating C-reactive protein concentration, Elevated haptoglobin level, T lymp... |
OMIM:620632 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Thrombocytopenia, Agenesis of corpus callosum |
OMIM:166990 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Cardiomyopathy, Failure to thrive, Hypoalbumine... |
OMIM:613752 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Broad-based gait, Hypoalbuminemia, Failure to thrive in infancy, Dilated cardiomyop... |
OMIM:618805 |
| Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia, Thrombocytopenia, Hemolytic anemia |
OMIM:615008 |
| Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
| Immunodeficiency 27A |
|
Anemia, Salmonella osteomyelitis, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Weight loss, Hy... |
OMIM:209950 |
| Enterokinase Deficiency |
|
Failure to thrive, Hypoproteinemia |
OMIM:226200 |
| Dominant Beta-Thalassemia |
|
Delayed puberty, Splenomegaly, Decreased mean corpuscular volume, High-output congestive heart fa... |
ORPHA:231226 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Anemia, Decreased mean corpuscular volume |
OMIM:205950 |
| Leukoencephalopathy With Vanishing White Matter 5 |
|
Megalencephaly, Dilated third ventricle, Loss of ambulation, Abnormal cerebral white matter morph... |
OMIM:620315 |
| Autoinflammation With Infantile Enterocolitis |
|
Anemia, Elevated circulating C-reactive protein concentration, Pancytopenia, Failure to thrive, T... |
OMIM:616050 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Anemia, Iron deficiency anemia, Hypoproteinemia, Hypoalbuminemia, Thrombocytosis |
OMIM:226300 |
| Lissencephaly 4 |
|
Colpocephaly, Simplified gyral pattern, Agenesis of corpus callosum, Lissencephaly, Primary micro... |
OMIM:614019 |
| Mirror Movements 1 |
|
Agenesis of corpus callosum |
OMIM:157600 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Immunodeficiency 43 |
|
B lymphocytopenia, Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbumin... |
OMIM:241600 |
| Ménétrier Disease |
|
Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia, Weight loss |
ORPHA:2494 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Cerebral ischemia, Budd... |
OMIM:263300 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperalaninemia, Hyperammonemia, Hypoornithinemia, Hypernatremia, Hyperprolinemia, Low plasma cit... |
OMIM:615751 |
| Dengue Fever |
|
Hepatomegaly, Hypoproteinemia, Thrombocytopenia, Leukopenia, Lethargy |
ORPHA:99828 |
| Omenn Syndrome |
|
Hepatomegaly, Anemia, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thymus, Failure to th... |
OMIM:603554 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia, Lymphopenia |
OMIM:207731 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hypoalbuminemia, Hyperlipidemia, Anemia |
OMIM:603278 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Decreased skull ossification, Thrombocytopenia, Abnormal hemoglobin, Abnormal cardiac sep... |
ORPHA:3319 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia |
ORPHA:94124 |
| Primary Intestinal Lymphangiectasia |
|
Anemia, Hypocalcemia, Decreased proportion of CD3-positive T cells, Hypoproteinemia, Reduced prop... |
ORPHA:90362 |
| Poems Syndrome |
|
Erectile dysfunction, Abnormality of the endocrine system, Ascites, Splenomegaly, Hypogonadism, E... |
ORPHA:2905 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia, Lymphopenia |
ORPHA:1116 |
| Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Lymphopenia |
OMIM:152800 |
| Immunodeficiency 32B |
|
Hepatomegaly, Anemia, Monocytopenia, Eosinophilia, Failure to thrive, Neutrophilia, Thrombocytope... |
OMIM:226990 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
| Erythrocytosis, Familial, 1 |
|
Myocardial infarction, Increased red blood cell mass, Hypertension, Increased circulating hemoglo... |
OMIM:133100 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Hyperkalemia, Osteopetrosis, Anemia, Increased bone mineral density, Cortical sclerosis, Patholog... |
OMIM:620366 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia |
OMIM:607250 |
| Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia |
OMIM:618310 |
| Leishmaniasis |
|
Hepatomegaly, Anemia, Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Wei... |
ORPHA:507 |
| Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia, Hyperlipidemia |
OMIM:232700 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Atrial septal defect, Hepatomegaly, Hypocalcemia, Patent foramen ovale, Hypoproteinemia, Ventricu... |
ORPHA:26793 |
| Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... |
OMIM:616000 |
| Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia, Hypoglycemia |
OMIM:240200 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Dysplastic corpus callosum, Ventriculomegaly, Mild malformation of cortical development, Abnormal... |
ORPHA:500166 |
| Citrullinemia Type Ii |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased body mass index, Elevate... |
ORPHA:247585 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Neonatal hypoglycemia, Decreased circulating cortisol level, Hypoglycemic seizures |
ORPHA:199296 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Anemia, Increased mean corpuscular volume, Ventricular septal defect, Sideroblastic anemia, Hypoa... |
OMIM:617021 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Failure to thrive, Hypercholesterolemia, Hyperlipidemia |
OMIM:615863 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Unconjugated hyperbilir... |
ORPHA:766 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia of inadequate production, Unconjugated hyperbilirubinemia, Reticulocytosis, Circulating nu... |
OMIM:613673 |
| Intrinsic Factor Deficiency |
|
Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic... |
OMIM:261000 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Thin corpus callosum, Cortical dysplasia, Dysgenesis of the basal ganglia, Dilated fourth ventric... |
OMIM:615771 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Hypoketotic hypoglycemia, Abnormal circulating C-peptide concentration, Type II diabetes mellitus... |
ORPHA:79299 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi... |
ORPHA:90794 |
| Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies |
OMIM:140700 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Cognitive impairment, Ataxia, Depression, Anisocytosis, Weight loss, Dysmetria, Increased erythro... |
OMIM:301310 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Irritability, Hepatomegaly, Bradycardia, Decreased circulating carnitine concentration, Cardiac a... |
OMIM:618235 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hepatosplenomegaly, Joint hypermobility, Hypoalbuminemia, Microcytic anemia |
OMIM:619013 |
| Diarrhea 13 |
|
Failure to thrive, Hypoalbuminemia |
OMIM:620357 |
| Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia, Small for gestational age |
OMIM:256300 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Decreased circulating car... |
ORPHA:71212 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Congestive heart failure, Hepatomegaly, Bradycardia, Ventricular hypertrophy, Hyperalaninemia, Fa... |
OMIM:619048 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hypertriglyceridemia, Osteopenia, Spinal rigidity, Hyperinsulinemia, Hepatomegaly, Prolonged QT i... |
OMIM:613327 |
| Spastic Paraplegia 45, Autosomal Recessive |
|
Spastic gait, Hypoplasia of the corpus callosum, Dysplastic corpus callosum |
OMIM:613162 |
| Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Hyperaldosteronism, Increased circulating renin level |
OMIM:620126 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Perimembranous ventricular septal defect, Hepatomegaly, Anemia, Camptodactyly, Failure to thrive,... |
OMIM:608104 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Myocardial infarction, Increased red blood cell count, Elevated plasma cell... |
ORPHA:90041 |
| Nephrotic Syndrome, Type 2 |
|
Hypoalbuminemia, Hyperlipidemia |
OMIM:600995 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Hyperaldosteronism, Increased circulating renin level |
OMIM:620125 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Increased circulating corticosterone level, Increased circulating renin level, Hypo... |
OMIM:610600 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Irritability, Neonatal hypoglycemia, Dicarboxylic aciduria, Hepatomegaly, Bradycardia, Ventricula... |
OMIM:212138 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Hypoglycemia, Increased circulating free fatty acid level, Hypophosphatemia, Steatorrhea |
OMIM:605911 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis... |
OMIM:616860 |
| Dehydrated Hereditary Stomatocytosis |
|
Macrocytic anemia, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Congenital hem... |
ORPHA:3202 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Elevated circulating C-reactive protein concentr... |
OMIM:308240 |
| Johanson-Blizzard Syndrome |
|
Anemia, Dextrocardia, Hypoproteinemia, Failure to thrive, Abnormal cardiac septum morphology |
ORPHA:2315 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Anemia, Hypoproteinemia, Cardiomyopathy, Leukocytosis, Elevated circulating creatin... |
OMIM:615895 |
| Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Optic atrophy, Bradycardia, Hyperalaninemia, Ascites, Hypertrophic cardiomyopathy, Hyperammonemia... |
OMIM:614702 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Elevated circulating C-reactive pro... |
ORPHA:158061 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia, Hypoglycemia, Decreased circulating cortisol level |
OMIM:614736 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
| Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Obesity, Hypoalbuminemia, Increased alpha-globulin, Hypercholest... |
ORPHA:86816 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Limb ataxia, Truncal ataxia, Elevated circulating creatine kinase concentration, Gait ataxia, Ata... |
OMIM:208920 |
| Isolated Osteopoikilosis |
|
Sclerotic foci in hand bones, Abnormal bone ossification, Sclerotic foci within carpal bones, Tar... |
ORPHA:166119 |
| Ataxia-Pancytopenia Syndrome |
|
Anemia, Pancytopenia, Unsteady gait, Ataxia, Abnormal cerebral white matter morphology, Acute mye... |
OMIM:159550 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Premature ovarian insufficiency, Dementia, Bradycardia, Depression, Cardiomyopathy, Gait disturba... |
OMIM:609286 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Hepatomegaly, Increased mean corpuscular hemoglobin concentration, Increased... |
OMIM:616689 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus, Cerebral calcification, Ataxia, Lethargy |
ORPHA:73256 |
| Pyruvate Carboxylase Deficiency |
|
Hypertaurinemia, Elevated plasma citrulline, Hyperglutamatemia, Increased serum pyruvate, Hyperal... |
ORPHA:3008 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia |
OMIM:620152 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Failure to thrive, Clavicular sclerosis |
OMIM:615198 |
| Glycogen Storage Disease 0, Liver |
|
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Flynn-Aird Syndrome |
|
Increased bone mineral density, Osteoporosis, Joint stiffness, Ataxia, Increased bone density wit... |
OMIM:136300 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Mildly elevated creatine kinase, Dysphagia, Bradycardia |
OMIM:620265 |
| Erythrocytosis, Familial, 8 |
|
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... |
OMIM:222800 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... |
OMIM:603902 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
| Eosinophilic Gastroenteritis |
|
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemia, Wei... |
ORPHA:2070 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Hydrocephalus, Chronic neutropenia, Thrombocytopenia, Simplified gyral pattern, Agenesis ... |
OMIM:619302 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
| Ogden Syndrome |
|
Left atrial enlargement, Enlarged kidney, Premature ventricular contraction, Dysphagia, Umbilical... |
OMIM:300855 |
| Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Hypotension, Pulmonary arterial hypertension, Failure to thrive, I... |
OMIM:263400 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypospadias, Bradycardia, Corneal opacity, Hypertrophic cardiomyopathy, Developmental cataract, F... |
OMIM:618815 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
| Bartter Syndrome, Type 2, Antenatal |
|
Polydipsia, Renal potassium wasting, Increased serum prostaglandin E2, Nephrocalcinosis, Hyperald... |
OMIM:241200 |
| Band Heterotopia |
|
Hydrocephalus, Polymicrogyria, Agenesis of corpus callosum, Lateral ventricle dilatation, Subcort... |
OMIM:600348 |
| Chylomicron Retention Disease |
|
Hypotriglyceridemia, Failure to thrive, Decreased LDL cholesterol concentration, Hypoalbuminemia,... |
OMIM:246700 |
| D-Glyceric Aciduria |
|
Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hyperglycinemia |
ORPHA:941 |
| Hemoglobin E Disease |
|
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... |
ORPHA:2133 |
| Osteochondrosis Of The Metatarsal Bone |
|
Difficulty walking, Arthritis, Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones |
ORPHA:564003 |
| Chromosome 5Q Deletion Syndrome |
|
Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia |
OMIM:153550 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Femur fracture, Osteopetrosis, Hepatomegaly, Anemia, Calvarial osteosclerosis, Pancytopenia, Hypo... |
OMIM:259700 |
| Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Hyperinsulinemia, Insulin resistance, Increased circulating free fatty acid... |
ORPHA:2457 |
| Bartter Syndrome, Type 1, Antenatal |
|
Renal potassium wasting, Increased serum prostaglandin E2, Nephrocalcinosis, Hyperaldosteronism, ... |
OMIM:601678 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Osteopetrosis, Hepatomegaly, Anemia, Increased bone mineral density, Reticulocytosis, Thrombocyto... |
OMIM:611490 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... |
ORPHA:247598 |
| Buschke-Ollendorff Syndrome |
|
Joint stiffness, Flexion contracture, Osteopoikilosis |
OMIM:166700 |
| Wolcott-Rallison Syndrome |
|
Hepatomegaly, Difficulty walking, Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Decr... |
ORPHA:1667 |
| Congenital Lethal Erythroderma |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:1954 |
| Chédiak-Higashi Syndrome |
|
Hypertriglyceridemia, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancyto... |
ORPHA:167 |
| Intermediate Osteopetrosis |
|
Anemia, Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Hepatosplen... |
ORPHA:210110 |
| Alg6-Cdg |
|
Failure to thrive, Decreased LDL cholesterol concentration, Hypoalbuminemia, Ataxia |
ORPHA:79320 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Spastic gait, Difficulty walking, Colpocephaly, Hypoplasia of the corpus callosum |
ORPHA:401815 |
| Alg1-Cdg |
|
Hypoalbuminemia, Limitation of joint mobility, Abnormal heart morphology, Cardiomyopathy |
ORPHA:79327 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Bradycardia, Scoliosis, Hypertrophic cardiomyopathy, Dysphagia, Ventricular septal defect, Hypopl... |
OMIM:616276 |
| Mueller-Weiss Syndrome |
|
Difficulty walking, Knee osteoarthritis, Arthritis, Limitation of movement at ankles, Joint stiff... |
ORPHA:566943 |
| Tempi Syndrome |
|
Abnormality of the kidney, Ascites, Hypoxemia, Polycythemia, Intracranial hemorrhage, Increased h... |
ORPHA:284227 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Action tremor, Splenomegaly, Micronodular cirrhosis, Jaundice, Difficulty walking, Truncal ataxia... |
ORPHA:309854 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Enlarged kidney, Bone marrow hypocellularity, Leukopenia, Splenomegaly, Neutropenia, Optic atroph... |
OMIM:617303 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Bradycardia, Hypomethioninemia, Neutropenia, Acute kidney injury, Hemolytic-uremic syndrome, Cyst... |
OMIM:277400 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231393 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Hypoplasia of the corpus callosum, Cavum septum pellucidum, Polymicrogyria, Cortical dysplasia, A... |
ORPHA:300573 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... |
OMIM:615631 |
| Marburg Hemorrhagic Fever |
|
Bradycardia, Reticulocytosis, Hyperammonemia, Pericarditis, Leukopenia, Lymphopenia, Elevated cir... |
ORPHA:99826 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Broad-based gait, Increased bone mineral density, Coronal craniosynostosis, Increased HbA2 hemogl... |
OMIM:616943 |
| H Syndrome |
|
Hypertriglyceridemia, Corneal arcus, Enlarged kidney, Delayed puberty, Hypogonadism, Hernia, Hist... |
ORPHA:168569 |
| Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia, Hyperactivity, Patent foramen ovale, Attention deficit hyperact... |
OMIM:617182 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Ketotic hypoglycemia, Reactive hypoglycemia, Agitation, Hyperinsulinemi... |
ORPHA:324575 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
| Congenital Enterovirus Infection |
|
Myocarditis, Anemia, Abnormal macrophage morphology, Cardiomyopathy, Leukocytosis, Hyperammonemia... |
ORPHA:292 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Hypophosphatemic rickets, Increased bone mineral density, Hypophosphatemia, Craniosynost... |
OMIM:241520 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Delayed puberty, Enlarged kidney, Macular dystrophy, Progressive psychomotor deterioration, Abnor... |
ORPHA:251004 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increas... |
ORPHA:556037 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Enlarged kidney, Bone marrow hypocellularity, Abnormal heart morphology, Leukopenia, Hernia, Opti... |
ORPHA:505248 |
| Schnitzler Syndrome |
|
Hepatomegaly, Anemia, Increased bone mineral density, Arthritis, Leukocytosis, Splenomegaly |
ORPHA:37748 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Bradycardia, Joint contracture of the 5th finger, Truncal ataxia, Impaired glucose tolerance, Int... |
OMIM:614407 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Weight loss, Abnormal circula... |
ORPHA:103910 |
| Stxbp1-Related Encephalopathy |
|
Dysplastic corpus callosum, Cerebral white matter atrophy, Ataxia, Inability to walk |
ORPHA:599373 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Hepatomegaly, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:2204 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Hypocystinemia, Hypohomocysteinemia, Decreased serum creatinine, Failure to thrive, Bicuspid aort... |
OMIM:617744 |
| Bartter Syndrome Type 4 |
|
Renal salt wasting, Acute kidney injury, Severe failure to thrive, Hypokalemia, Hyperprostaglandi... |
ORPHA:89938 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Dysplastic corpus callosum, Ataxia, Inability to walk, Microcephaly |
OMIM:618276 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Hypoproteinemia, Flexion contracture |
OMIM:608093 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
| Beta-Thalassemia |
|
Abnormality of iron homeostasis, Anemia, Hepatomegaly, Reduced bone mineral density, Hypertrophic... |
ORPHA:848 |
| Sandhoff Disease |
|
Congestive heart failure, Hepatomegaly, Progressive psychomotor deterioration, Kyphosis, Failure ... |
ORPHA:796 |
| Glycogen Storage Disease Iv |
|
Cirrhosis, Bradycardia, Tubulointerstitial fibrosis, Cardiomyopathy, Ascites, Portal hypertension... |
OMIM:232500 |
| Hypermanganesemia With Dystonia 1 |
|
Bradykinesia, Cirrhosis, Increased total iron binding capacity, Hepatomegaly, Steppage gait, Trem... |
OMIM:613280 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis |
OMIM:603529 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Enlarged kidney, Ureteral duplication, Nonketotic hypoglycemia, Hyperammonemia, Cardiomegaly, Ele... |
OMIM:608836 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
| Lipoyltransferase 1 Deficiency |
|
Bradycardia, Pulmonary arterial hypertension, Increased total bilirubin, Dystonia, Hyperprolinemi... |
OMIM:616299 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hypernatremia, Hypoglycemia, Hyperglycinemia, Hyperglycemia |
OMIM:620423 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,... |
ORPHA:158048 |
| Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Microangiopathic hemolytic anemia, Thrombocytopenia, Reticulocytosis |
ORPHA:54057 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Increased blood urea nitrogen, Failure to thrive, Elevated circulatin... |
OMIM:617872 |
| Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hy... |
ORPHA:94093 |
| Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Anemia, Steppage gait, Hypotri... |
ORPHA:14 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Enlarged kidney, Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Leukope... |
OMIM:615285 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Kyphoscoliosis, Congestive heart failure, Anorexia, Irritability, Abnormal fear-induced behavior,... |
ORPHA:3077 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Hyperuricemia, Gout, Elevated circulating creatinine concentration, Neutropenia |
OMIM:617056 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoglycemic seizures, Agitation, Hyperinsulinemia, Maternal diabetes, Diffuse pancreatic islet h... |
ORPHA:276580 |
| Hemochromatosis, Type 1 |
|
Congestive heart failure, Increased circulating ferritin concentration, Cirrhosis, Hepatomegaly, ... |
OMIM:235200 |
| Ataxia-Oculomotor Apraxia 4 |
|
Obesity, Ataxia, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperchol... |
OMIM:616267 |
| Crimean-Congo Hemorrhagic Fever |
|
Hematemesis, Bradycardia, Hypertension, Inappropriate antidiuretic hormone secretion, Ascites, Le... |
ORPHA:99827 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... |
OMIM:300539 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Cholelithiasis, Normochromic anemia, Bradycardia, Elevated circulat... |
OMIM:618775 |
| Rh Deficiency Syndrome |
|
Jaundice, Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Spherocytosis, Hypoch... |
ORPHA:71275 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Necrotizing Enterocolitis |
|
Shock, Abnormal glucose homeostasis, Bradycardia, Ascites, Leukocytosis, Hypotension, Hyponatremi... |
ORPHA:391673 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Hypocalcemia, Hypoproteinemia, Splenomegaly, Ventricular septal defect |
OMIM:235255 |
| D-Glyceric Aciduria |
|
Elevated circulating D-glyceric concentration, Nonketotic hyperglycinemia, Bradycardia, Tongue th... |
OMIM:220120 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increas... |
ORPHA:556030 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Atrial septal defect, Hepatomegaly, Pericardial effusion, Failure to thrive, Splenomegaly, Hypoal... |
OMIM:608776 |
| Wolfram Syndrome 1 |
|
Optic atrophy, Hydroureter, Diabetes insipidus, Neurogenic bladder, Megaloblastic anemia, Cardiom... |
OMIM:222300 |
| Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
| Multiple Myeloma |
|
Osteopenia, Anemia, Hypercalcemia, Splenomegaly, Weight loss, Hyperproteinemia, Pathologic fractu... |
ORPHA:29073 |
| Classic Galactosemia |
|
Delayed puberty, Reduced bone mineral density, Abnormal erythrocyte enzyme concentration or activ... |
ORPHA:79239 |
| Timothy Syndrome |
|
Prolonged QT interval, Bradycardia, Hypocalcemia, Patent foramen ovale, Pulmonary arterial hypert... |
OMIM:601005 |
| Lissencephaly Due To Tuba1A Mutation |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly, Polymicrogyria, Hyp... |
ORPHA:171680 |
| Hepatoportal Sclerosis |
|
Anemia, Hyperbilirubinemia, Leukopenia, Splenomegaly, Thrombocytopenia, Hypoalbuminemia, Hyperspl... |
ORPHA:64743 |
| Kaposiform Lymphangiomatosis |
|
Enlarged kidney, Abnormal form of the vertebral bodies, Abnormal spleen morphology, Lymphangioma,... |
ORPHA:464329 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Renal salt wasting, Polyuria, Polydipsia, Hyperchloriduria, Hypokalemia, Decreased glomerular fil... |
OMIM:602522 |
| Glut1 Deficiency Syndrome 2 |
|
Irritability, Reduced haptoglobin level, Tremor, Reticulocytosis, Dystonia, Ataxia, Splenomegaly,... |
OMIM:612126 |
| Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia, Decreased body weight |
OMIM:618347 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Polyuria, Hypokalemia, Hypercalciuria, Medullary nephrocalcinosis, Hypochloremia, Increased circu... |
OMIM:300971 |
| Beckwith-Wiedemann Syndrome |
|
Congenital diaphragmatic hernia, Enlarged kidney, Ureteral duplication, Multiple renal cysts, Spl... |
ORPHA:116 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoglycemic seizures, Agitation, Hyperinsulinemia, Hepatomegaly, Diffuse pancreatic islet hyperp... |
ORPHA:276575 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ... |
ORPHA:86839 |
| Livedoid Vasculopathy |
|
Abnormal circulating lipid concentration, Ischemic stroke, Anemia, Pancytopenia, Hyperhomocystine... |
ORPHA:542643 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Gait imbalance, Elevated circulating creatine kinase concentration, Ataxia, Elevated circulating ... |
ORPHA:64753 |
| Trimethylaminuria |
|
Trimethylaminuria, Anemia, Depression, Hypertension, Splenomegaly, Tachycardia, Neutropenia |
OMIM:602079 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Hypertension, Cardiomyopathy, Multiple renal cysts, Epididymal cyst, My... |
ORPHA:892 |
| Erythrocytosis, Familial, 4 |
|
Elevated circulating erythropoietin concentration, Polycythemia, Increased circulating hemoglobin... |
OMIM:611783 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Bradycardia, Hypertrophic cardiomyopathy, Dystonia, Ventricular septal defect, Elevated urine 2,3... |
OMIM:616277 |
| Down Syndrome |
|
Delayed puberty, Renal hypoplasia/aplasia, Umbilical hernia, Keratoconus, Neutrophilia, Secundum ... |
ORPHA:870 |
| Unilateral Hemispheric Polymicrogyria |
|
Cortical dysplasia, Thick cerebral cortex, Lateral ventricle dilatation, Cerebral hypoplasia |
ORPHA:101071 |
| Aminoacylase 1 Deficiency |
|
Hyperactivity, Bradycardia |
OMIM:609924 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hypokalemia, Hyperactive renin-angiotensin system, Hypochloremia, Increased circulating renin lev... |
OMIM:214700 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoglycemic seizures, Agitation, Hepatomegaly, Excessive insulin response to glucagon test, Diff... |
ORPHA:276556 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Decreased glomerular filtration rate... |
OMIM:613090 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Optic atrophy, Anorexia, Hepatomegaly, Pancreatitis, Anemia, Cardiomyopathy, Hyperammonemia, Fail... |
ORPHA:79312 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
| Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Retinal degeneration, Bradycardia |
OMIM:617173 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:604765 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... |
ORPHA:86841 |
| Idiopathic Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Bradycardia, Decreased circulatin... |
ORPHA:95717 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration |
OMIM:109130 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Cryptorchid... |
ORPHA:67044 |
| Erythrocytosis, Familial, 5 |
|
Elevated circulating erythropoietin concentration, Polycythemia, Increased circulating hemoglobin... |
OMIM:617907 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperammonemia, Increased C-peptide level, Hypoglycemia,... |
OMIM:620211 |
| Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased circulating iron concentration, Hypoglycemia |
ORPHA:446 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Hyponatremia, Hyperaldosteronism, Increased circulating renin level |
OMIM:177735 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Hyp... |
ORPHA:540 |
| Polycythemia Vera |
|
Acute leukemia, Pulmonary embolism, Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, H... |
ORPHA:729 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Hypocalcemia, Hypoproteinemia, Hepatosplenomegaly, Splenomegaly, Ventricular septal... |
ORPHA:1655 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Bradycardia, Depression, Abnormal circulating thyrog... |
ORPHA:90674 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Erectile dysfunction, Decreased libido, Cardiomyopathy, Splenomegaly, Cardiomegaly, Elevated jugu... |
ORPHA:465508 |
| Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia |
OMIM:614896 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
| Atrial Standstill |
|
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... |
ORPHA:1344 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Failure to thrive, Hepatosplenomegaly, Flexion contracture, Abnormal cardiomyocyte ... |
ORPHA:367 |
| Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit |
OMIM:609820 |
| Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Tracheomalacia, Increased mean corpuscular volume, Ventricular hypertrophy, Pe... |
OMIM:612561 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:203400 |
| Endosteal Hyperostosis, Worth Type |
|
Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial... |
ORPHA:2790 |
| Acute Interstitial Pneumonia |
|
Reduced hematocrit, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hyper... |
ORPHA:79126 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Irritability, Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Ventricul... |
OMIM:618278 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Albers-Schönberg Osteopetrosis |
|
Anemia, Hypocalcemia, Abnormal leukocyte morphology, Arthritis, Recurrent fractures, Osteoarthrit... |
ORPHA:53 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
3-Methylglutaconic aciduria, Hepatomegaly, Camptodactyly, Renal hypoplasia, Anisocytosis, Failure... |
OMIM:604273 |
| Sepsis In Premature Infants |
|
Jaundice, Anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Bradycardi... |
ORPHA:90051 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia |
ORPHA:223 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Hyperaldosteronism |
OMIM:264350 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Bradykinesia, Scissor gait, Dilated third ventricle, Diffuse cerebral atrophy, Lateral ventricle ... |
ORPHA:363654 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Sickle Cell Anemia |
|
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Splenic infa... |
ORPHA:232 |
| Polycystic Kidney Disease 5 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hypertension, Hepatosplenomegaly, Hyperechogenic ki... |
OMIM:617610 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis, Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly |
OMIM:615085 |
| Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Anemia, Osteoporosis, Failure to thrive, Pericarditis, Pericardial effusion, Hepato... |
OMIM:619487 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Bradykinesia, Cerebral cortical hemiatrophy, Difficulty walking, Lateral ventricle dilatation |
ORPHA:306669 |
| Erythroleukemia, Familial, Susceptibility To |
|
Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplasia, Leukemia |
OMIM:133180 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Xanthelasma, Enlarged kidney, Hepatocellular adenoma, Delayed puberty, Tubu... |
ORPHA:79259 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Anemia, Leukocytosis, Abnormal pericardium morphology, Weight loss, Hypoalbuminemia, Constrictive... |
ORPHA:67 |
| Nephronophthisis |
|
Anemia |
ORPHA:655 |
| Familial Thyroid Dyshormonogenesis |
|
Elevated circulating thyroid-stimulating hormone concentration, Bradycardia, Abnormal circulating... |
ORPHA:95716 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Increased circulating free fatty acid level, Hypoketotic hypoglycemia |
OMIM:610768 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
| Al Amyloidosis |
|
Hepatomegaly, Anemia, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnorma... |
ORPHA:85443 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased total iron binding capacity, Anemia, Increased mean corpuscular volume, Hyperbilirubine... |
ORPHA:98870 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Bone spicule pigmentation of the retina, Anemia, Photoreceptor layer loss on macular OCT, Retinal... |
OMIM:616959 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate produ... |
OMIM:224120 |
| Beta-Thalassemia Major |
|
Delayed puberty, Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume... |
ORPHA:231214 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Dystonia, Hyperalaninemia, Bradycardia, Left ventricular hypertrophy |
OMIM:614654 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Periventricular leukomalacia, Progressive leukoencephalopathy, Ataxia, Lateral ventricle dilatati... |
OMIM:615889 |
| Lujo Hemorrhagic Fever |
|
Myocarditis, Elevated circulating C-reactive protein concentration, Bradycardia, Resting tremor, ... |
ORPHA:319213 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hyperkalemia, Hepatomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbumin... |
OMIM:618528 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Tetanus |
|
Bradycardia, Hypertension, Elevated urinary epinephrine level, Elevated urinary norepinephrine le... |
ORPHA:3299 |
| Sclerosteosis |
|
Increased bone mineral density, Abnormal cortical bone morphology, Craniofacial hyperostosis |
ORPHA:3152 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Tip-toe gait, Neonatal hypoglycemia, Leg dystonia, Bradycardia, Congenital foot contractures, Sco... |
ORPHA:565624 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3416 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Generalized lipodystrophy, Progr... |
ORPHA:363400 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia |
OMIM:240900 |
| Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
| Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly |
OMIM:312500 |
| Majeed Syndrome |
|
Hepatomegaly, Hypochromic microcytic anemia, Increased bone mineral density, Cachexia, Leukocytos... |
ORPHA:77297 |
| Hemochromatosis, Type 4 |
|
Cirrhosis, Hepatomegaly, Anemia, Glucose intolerance, Cardiomyopathy, Impaired glucose tolerance,... |
OMIM:606069 |
| Generalized Pustular Psoriasis |
|
Elevated circulating C-reactive protein concentration, Hypocalcemia, Arthritis, Leukocytosis, Hyp... |
ORPHA:247353 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology, Gait imbalance, Gait at... |
ORPHA:488635 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:617981 |
| Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:617980 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Erythroid hyperplasia, Hypochromia, Anemia, Decreased mean corpuscular volume |
OMIM:206100 |
| Mpi-Cdg |
|
Failure to thrive, Hepatomegaly, Hypoalbuminemia |
ORPHA:79319 |
| Sheehan Syndrome |
|
Normochromic anemia, Bradycardia, Dyspareunia, Impotence, Decreased circulating cortisol level, C... |
ORPHA:91355 |
| Polyrrhinia |
|
Abnormal third ventricle morphology, Lateral ventricle dilatation |
ORPHA:141091 |
| Mucolipidosis Ii Alpha/Beta |
|
Enlarged kidney, Splenomegaly, Heart murmur, Cardiomegaly, Craniosynostosis, Umbilical hernia, Ti... |
OMIM:252500 |
| Beta-Thalassemia Intermedia |
|
Reduced bone mineral density, Proximal tubulopathy, Anemia of inadequate production, Splenomegaly... |
ORPHA:231222 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Increased bone mineral density, Myelofibrosis, Thrombocytopenia, Leukopenia, Hyperostosis cranial... |
OMIM:231095 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormal circulating homocysteine concentration, Abnormal circulating methionine concentration, H... |
ORPHA:88618 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Enlarged kidney, Jaundice, Cirrhosis, Tubular luminal dilatation, Hepatocellular carcinoma, Renal... |
OMIM:619902 |
| Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
| Reni Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Ataxia, Lymphopenia |
OMIM:617575 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Homocystinuria, Hyperhomocystinemia, Increased mean corpuscular volume, M... |
OMIM:277410 |
| Melorheostosis |
|
Increased bone mineral density, Arthritis, Hyperostosis, Joint stiffness, Failure to thrive, Ecto... |
ORPHA:2485 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
| Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
| Congenital Hydrocephalus |
|
Abnormal cortical gyration, Lissencephaly, Hydrocephalus, Small cerebral cortex, Colpocephaly, Ve... |
ORPHA:2185 |
| Congenital Heart Block |
|
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Patent foramen oval... |
ORPHA:60041 |
| Niemann-Pick Disease, Type B |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Hepatomega... |
OMIM:607616 |
| Phoar2-Enteropathy Syndrome |
|
Hyperostosis, Hypoalbuminemia, Periostosis |
OMIM:614441 |
| Congenital Myopathy 22A, Classic |
|
Spinal rigidity, Bradycardia, Scoliosis, Waddling gait, Tricuspid regurgitation, Osteoporosis, Ky... |
OMIM:620351 |
| Glycogen Storage Disease Ib |
|
Delayed puberty, Xanthelasma, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular f... |
OMIM:232220 |
| Hemochromatosis, Type 2B |
|
Congestive heart failure, Cirrhosis, Hepatomegaly, Anemia, Secondary amenorrhea, Cardiomyopathy, ... |
OMIM:613313 |
| Primary Familial Polycythemia |
|
Polycythemia, Epistaxis, Abnormal hemoglobin |
ORPHA:90042 |
| Myopathy, Myofibrillar, 1 |
|
Bradycardia, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thi... |
OMIM:601419 |
| Hsd10 Mitochondrial Disease |
|
Optic atrophy, Agitation, Hypertrophic cardiomyopathy, Retinal degeneration, Restlessness, Choreo... |
OMIM:300438 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbi... |
OMIM:300908 |
| Cyanosis, Transient Neonatal |
|
Hepatomegaly, Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Hyperhomocystinemia, Pancytopenia, Increased mean corpuscular volume, Osteopor... |
ORPHA:2169 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Anemia, Decreased circulating carnitine concentration, Decreased body weight, Failure to thrive, ... |
ORPHA:89842 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Hepatomegaly, Cardiomyopathy, Failure to thrive, Pericarditis, Pericardial effusion, ... |
OMIM:212065 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Tremor, Polycythemia, Opisthotonus, Cyanosis, Methemoglobinemia |
OMIM:250800 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Dilated cardiomyopathy, Ventricular septal defect, Hypercholesterolemia |
OMIM:616730 |
| Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Anemia of inadequate production, Hypochromic microcytic anemia, Macrocytic ... |
OMIM:300751 |
| Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
| Wild Type Attr Amyloidosis |
|
Congestive heart failure, Hepatomegaly, Renal insufficiency, Bradycardia, Atrial fibrillation, Hy... |
ORPHA:330001 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Neonatal hypoglycemia, Agitation, Macrocytic anemia, Increased serum pyruvate, Hyperalaninemia, C... |
OMIM:619046 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, D... |
OMIM:616201 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Microcephaly, Elevated hemoglobin A1c, Lateral ventricle dilatation |
OMIM:619278 |
| Coproporphyria, Hereditary |
|
Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin... |
OMIM:121300 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
| Aica-Ribosiduria Due To Atic Deficiency |
|
Hyponatremia, Hypoglycemia |
OMIM:608688 |
| Immunodeficiency, Common Variable, 6 |
|
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu... |
OMIM:613496 |
| Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, ... |
OMIM:618849 |
| Bone Marrow Failure Syndrome 2 |
|
Microcephaly, Thrombocytopenia, Anemia, Leukopenia |
OMIM:615715 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Increased serum bile acid concentration, Decreased circulating ceruloplasmin concentration, Decre... |
OMIM:242150 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyperuricemia, Increased blood urea nitrogen, Hyponatremia, Hypomagnesemia, Diabetes mellitus |
OMIM:613845 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Ataxia, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Flexion contracture, Elevated circulating creatinine concentration, Small for gestational age, Le... |
OMIM:616733 |
| Avian Influenza |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... |
ORPHA:454836 |
| Hemochromatosis, Type 2A |
|
Congestive heart failure, Cirrhosis, Hepatomegaly, Azoospermia, Infertility, Cardiomyopathy, Incr... |
OMIM:602390 |
| Liver Disease, Severe Congenital |
|
Left atrial enlargement, Lymphocytosis, Hypoproteinemia, Hyperammonemia, Leukopenia, Splenomegaly... |
OMIM:619991 |
| Tyrosinemia, Type I |
|
Enlarged kidney, Gastrointestinal hemorrhage, Hypertyrosinemia, Ascites, Nephrocalcinosis, Spleno... |
OMIM:276700 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Pseudobulbar paralysis, Abnormal fear-induced behavior, Delirium, Aggressive behavior |
ORPHA:208441 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Generalized aminoaciduria, Hyperbilirubinemia, Failure to thrive, Thrombocytopenia,... |
OMIM:251880 |
| Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, Splenomegal... |
OMIM:185000 |
| Eosinophilia, Familial |
|
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis |
OMIM:131400 |
| Aicardi-Goutieres Syndrome 6 |
|
Irritability, Hepatomegaly, Tremor, Dystonia, Thrombocytopenia, Splenomegaly, Loss of ambulation,... |
OMIM:615010 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Irritability, Cirrhosis, Hepatomegaly, Portal fibrosis, Abnormality of the kidney, De... |
ORPHA:369 |
| Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
| Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... |
OMIM:617280 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Normochromic anemia, Gait ataxia, Unsteady gait, Thrombocytopenia, Hypoalbuminemia |
OMIM:254900 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hepatomegaly, Anemia, Intention tremor, Thrombocytopenia, Splenomegaly, Hypocholester... |
OMIM:610539 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Renal tubular epithelial necrosis, Decreased glomerular filtration rate, Normochromic anemia, Cys... |
ORPHA:91500 |
| Babesiosis |
|
Anorexia, Congestive heart failure, Myocardial infarction, Jaundice, Hepatomegaly, Depression, Co... |
ORPHA:108 |
| Bacterial Toxic-Shock Syndrome |
|
Myocarditis, Hypocalcemia, Arthritis, Increased circulating myelocyte count, Elevated circulating... |
ORPHA:36234 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Hyperammonemia, Hypoglycemia |
ORPHA:6 |
| Fumarase Deficiency |
|
Optic atrophy, Perimembranous ventricular septal defect, Intrahepatic cholestasis, Bilateral feta... |
OMIM:606812 |
| Aapoaiv Amyloidosis |
|
Hypertension, Hyperlipidemia, Elevated circulating creatinine concentration, Abnormal cardiac ven... |
ORPHA:439232 |
| Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Cranial hyperostosis, Osteopetrosis, Anemia, Pancytopenia, Diaphyseal sclerosis, Recurrent fractu... |
OMIM:259710 |
| Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Agitation, Hyperinsulinemia, Fasting hypoglycemia, Hypoketotic hypoglycemia, Tremor, Increased bo... |
ORPHA:276608 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Agitation, Increased erythrocyte protoporphyrin concentration, Abnormal fear-induced behavior, In... |
ORPHA:100924 |
| Gaucher Disease Type 1 |
|
Delayed puberty, Decreased HDL cholesterol concentration, Ascites, Leukopenia, Splenomegaly, Oste... |
ORPHA:77259 |
| Hyperlysinemia, Type I |
|
Argininuria, Anemia, Hyperactivity, Optic nerve hypoplasia, Dysdiadochokinesis, Short attention s... |
OMIM:238700 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Hepatomegaly, Hyperactivity, Tremor, Dystonia, Ataxia, Mental deterioration |
OMIM:615924 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:300946 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial osteosclerosis, Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis |
OMIM:122860 |
| Lead Poisoning |
|
Delayed puberty, Decreased HDL cholesterol concentration, Hypertension, Cognitive impairment, Dec... |
ORPHA:330015 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Cranial hyperostosis, Osteopetrosis, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancyto... |
OMIM:259720 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-nega... |
ORPHA:37042 |
| Relapsing Fever |
|
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased total bili... |
ORPHA:91547 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
| Gm1 Gangliosidosis |
|
Abnormal form of the vertebral bodies, Hyperlordosis, Cardiomyopathy, Corneal opacity, Kyphosis, ... |
ORPHA:354 |
| Pontocerebellar Hypoplasia, Type 12 |
|
Cerebral atrophy, Primary microcephaly, Lateral ventricle dilatation, Cerebral hypoplasia |
OMIM:618266 |
| Congenital Erythropoietic Porphyria |
|
Increased urinary porphobilinogen, Purple urine, Red-brown urine, Unconjugated hyperbilirubinemia... |
ORPHA:79277 |
| Juvenile Polyposis Syndrome |
|
Failure to thrive, Hypoalbuminemia, Anemia, Hypokalemia |
OMIM:174900 |
| Myopathy With Extrapyramidal Signs |
|
Optic atrophy, Hypervalinemia, Hepatomegaly, Difficulty walking, Hyperactivity, Tremor, Ventricul... |
OMIM:615673 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Anorexia, Pancreatitis, Hyperamylasemia, Hyperalaninemia, Elevated circulating creatine kinase co... |
OMIM:619386 |
| Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Bradycardia, Hypoplasia of the thymus, Antecubital pterygium, Abno... |
ORPHA:40366 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Elevated urinary inosine level, Hypouricemia, Neutropenia in presenc... |
OMIM:613179 |
| Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Bradycardia, Ascites, Abnormal renal corticomedullary differentiation, Secundum atr... |
OMIM:617397 |
| Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic anemia, Poikilo... |
OMIM:206200 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Obesity |
OMIM:618406 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Enlarged kidney, Bradycardia, Cardiomyopathy, Ascites, Prolonged QRS complex, Cardiomegaly, T-wav... |
OMIM:261740 |
| Fanconi Anemia, Complementation Group G |
|
Anemia, Microcephaly, Thrombocytopenia, Leukemia, Neutropenia |
OMIM:614082 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hepatomegaly, Hypoalbuminemia |
OMIM:602579 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Failure to thrive, Hyperammonemia, Conjugated hyperbilirubinemia, Decreased serum zinc, Joint hyp... |
OMIM:617093 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... |
ORPHA:251380 |
| Diamond-Blackfan Anemia 3 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... |
OMIM:612926 |
| Glycogen Storage Disease Ia |
|
Delayed puberty, Xanthelasma, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular f... |
OMIM:232200 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... |
OMIM:202700 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation, Short corpus callosum |
OMIM:619972 |
| Mcleod Syndrome |
|
Hepatomegaly, Reduced haptoglobin level, Atrial fibrillation, Depression, Cardiomyopathy, Elevate... |
OMIM:300842 |
| Sialidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Tremor, Corneal opacity, Ascites, Osteoporosis, Kyphosis, Ataxia, ... |
ORPHA:87876 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... |
OMIM:612924 |
| Stiff-Person Syndrome |
|
Anemia, Depression, Hypertension, Exaggerated startle response, Opisthotonus, Tachycardia, Diabet... |
OMIM:184850 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Dysplastic corpus callosum, Anemia |
OMIM:620135 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Polydipsia, Enlarged kidney, Gastrointestinal hemorrhage, Hypertension, Cholestasis, Ascites, Bil... |
ORPHA:731 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Hydroxyprolinemia, Hyperuricemia, Increased bone mineral density, Osteoporosis, Failu... |
OMIM:239000 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Thromboc... |
OMIM:603552 |
| Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hepatomegaly, Hyperbilirubinemia |
OMIM:613070 |
| Pediatric-Onset Graves Disease |
|
Polydipsia, Hyperactivity, Hypertension, Sinus tachycardia, Thyrotoxicosis with diffuse goiter, S... |
ORPHA:525731 |
| Familial Pseudohyperkalemia |
|
Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom... |
ORPHA:90044 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Elevated circulating suberic acid concentration, Increased serum pyruvate, Hyperalaninemia, Hyper... |
OMIM:615160 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Arthritis, Elevated circulating creatinine concentration, Synovitis |
ORPHA:567544 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia |
ORPHA:231401 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Polymicrogyria, Lateral ventricle dilatation |
OMIM:300982 |
| Hsd10 Disease, Infantile Type |
|
Optic atrophy, Hypertrophic cardiomyopathy, Hyperammonemia, Retinal degeneration, Dystonia, Loss ... |
ORPHA:391428 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly, Pachygyria |
OMIM:614870 |
| Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Inability to walk, Abnormal periventricular white matter morphology, Dilated fourth ventricle, Ab... |
OMIM:613443 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Periventricular leukomalacia, Inability to w... |
ORPHA:79243 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... |
ORPHA:567548 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Hypophosphatemic rickets, Hep... |
ORPHA:263455 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Increased circulating renin level, Hyponatremia, Hyperkalemia, Glucocortocoid-insensitive primary... |
ORPHA:171876 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis, Hepatomegaly, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Extramedulla... |
OMIM:612840 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Ambiguous genitalia, male, Bradycardia, Partial development of the penile shaft, Exaggerated star... |
OMIM:608800 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... |
OMIM:612925 |
| Thrombocytopenia 5 |
|
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... |
OMIM:616216 |
| Hyperkalemic Periodic Paralysis |
|
Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration, Hypokalemia |
ORPHA:682 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Reduced haptoglobin level, Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Ele... |
OMIM:301110 |
| Nephronophthisis 16 |
|
Situs inversus totalis, Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney... |
OMIM:615382 |
| Trichohepatoenteric Syndrome 1 |
|
Abnormality of iron homeostasis, Hepatomegaly, Hypermethioninemia, Hypergalactosemia, Ventricular... |
OMIM:222470 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Anemia, Thrombocytopenia, Macrothrombocytopenia |
OMIM:187800 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... |
ORPHA:66529 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytop... |
OMIM:613839 |
| Glutamine Deficiency, Congenital |
|
Bradycardia, Camptodactyly, Hyperammonemia, Flexion contracture, Hypoglutaminemia |
OMIM:610015 |
| Gaucher Disease Type 3 |
|
Hepatomegaly, Anemia, Pancytopenia, Increased bone mineral density, Abnormal heart valve morpholo... |
ORPHA:77261 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Microcephaly, Cerebral cortical atrophy, Abnormal cerebral white matter morphology, Lateral ventr... |
OMIM:617668 |
| Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Thrombocytopenia, Monocytosis, Anemia, Neutropenia |
OMIM:620534 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
| Carnitine Deficiency, Systemic Primary |
|
Congestive heart failure, Dicarboxylic aciduria, Hepatomegaly, Decreased circulating carnitine co... |
OMIM:212140 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Optic atrophy, Ankle flexion contracture, Hepatomegaly, Tremor, Elevated circulating creatine kin... |
OMIM:608799 |
| Infantile Sialic Acid Storage Disease |
|
Osteopenia, Congestive heart failure, Hepatomegaly, Vacuolated lymphocytes, Ascites, Nephrotic sy... |
OMIM:269920 |
| Alg12-Cdg |
|
Abnormal bone ossification, Muscular ventricular septal defect, B lymphocytopenia, Patent foramen... |
ORPHA:79324 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Abnormal fear-induced behavior, Hypokalemia, Vertebral compression fracture, Emotional lability, ... |
OMIM:219090 |
| Wilson Disease |
|
Hepatomegaly, Anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Hyperbilir... |
OMIM:277900 |
| Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic dyserythropoietic anemia, Macrocytic anemia |
OMIM:619789 |
| Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia, Hyperuricemia |
OMIM:306000 |
| Gaucher Disease Type 2 |
|
Hepatomegaly, Cardiac arrest, Dystonia, Flexion contracture, Splenomegaly, Dysphagia |
ORPHA:77260 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Cardiomegaly, D... |
OMIM:600649 |
| Acute Erythroid Leukemia |
|
Leukopenia, Anemia, Erythroid hypoplasia, Pancytopenia |
ORPHA:318 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia |
OMIM:612563 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Large for gestational age, Bradyc... |
ORPHA:226313 |
| Alpha-Thalassemia |
|
Anisopoikilocytosis, Hemoglobin Barts, Congestive heart failure, Jaundice, Anemia, Cholelithiasis... |
ORPHA:846 |
| Diffuse Alveolar Hemorrhage |
|
Anemia, Leukocytosis, Thrombocytopenia, Weight loss, Elevated circulating creatinine concentration |
ORPHA:90060 |
| Long Qt Syndrome 16 |
|
Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ... |
OMIM:618782 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Hepatic steatosis, Hepatomegaly, Generalized lipodystrophy, Hypocalcemia, R... |
OMIM:612526 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Congestive heart failure, Ischemic stroke, Memory impairment, Prolonged QTc interval, Hypertensio... |
ORPHA:90065 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Hyperbilirubinemia, Failure to thrive, Conjugated hyperbilirubinemia, Lethargy,... |
OMIM:617156 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia |
OMIM:620044 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Galactokinase Deficiency |
|
Premature ovarian insufficiency, Hyperinsulinemia, Hepatomegaly, Nuclear cataract, Increased leve... |
ORPHA:79237 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Delayed puberty, Hepatocellular adenoma, Portal fibrosis, Myoglobinuria, In... |
ORPHA:264580 |
| Alg2-Cdg |
|
Hypoplasia of the corpus callosum, Abnormal basal ganglia MRI signal intensity, Microcephaly, Lat... |
ORPHA:79326 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Limb ataxia, Neuronal loss in basal ganglia, Basal ganglia gliosis, Microcephaly, Cerebral cortic... |
OMIM:607596 |
| Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Difficulty walking, Inability to walk, Bradycardia, Scoliosis, Thoracic kyphosis... |
ORPHA:70 |
| Overhydrated Hereditary Stomatocytosis |
|
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... |
ORPHA:3203 |
| Kenny-Caffey Syndrome, Type 2 |
|
Anemia, Transient hypophosphatemia, Hypocalcemia, Increased bone mineral density, Thickened corte... |
OMIM:127000 |
| Aa Amyloidosis |
|
Acute kidney injury, Enlarged kidney, Hepatomegaly, Abnormality of the kidney, Cholestasis, Hypot... |
ORPHA:85445 |
| Propionic Acidemia |
|
Hyperammonemia, Hypoglycemia |
ORPHA:35 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Rickets, Osteopenia, Reduced bone mineral density, Anemia, Pancytopenia, Hypocalcemia, Unconjugat... |
OMIM:613658 |
| Abcd Syndrome |
|
Polycythemia, Hypopigmentation of the fundus, Large for gestational age |
OMIM:600501 |
| Phenylketonuria |
|
Irritability, Increased level of hippuric acid in urine, Hyperactivity, Depression, Hyperphenylal... |
OMIM:261600 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Hepatomegaly, Fatigable weakness, Cachexia, Elevated circulating creatine ... |
ORPHA:42 |
| Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic seizures, Diaphyseal sclerosis, Hypocalcemia, Increased bone mineral density, Hypoca... |
ORPHA:94089 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased body weight, Decreased b... |
ORPHA:2298 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Optic atrophy, Joint contracture, Inguinal hernia, Bradycardia |
OMIM:614498 |
| Nephronophthisis 2 |
|
Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Pulmonary ... |
OMIM:602088 |
| Renal Tubular Acidosis, Proximal |
|
Rickets, Elevated circulating creatinine concentration, Osteomalacia |
OMIM:179830 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Difficulty walking, Gait imbalance... |
ORPHA:488627 |
| Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypoglycemia |
OMIM:615026 |
| Mucopolysaccharidosis, Type Iiic |
|
Kyphoscoliosis, Beaking of vertebral bodies, Hepatomegaly, Dense calvaria, Hyperactivity, Motor d... |
OMIM:252930 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia |
OMIM:611938 |
| Gaucher Disease |
|
Decreased HDL cholesterol concentration, Joint stiffness, Leukopenia, Splenomegaly, Ataxia, Patho... |
ORPHA:355 |
| Diaphanospondylodysostosis |
|
Absent in utero rib ossification, Enlarged kidney, Abnormal liver lobulation, Lumbosacral meningo... |
OMIM:608022 |
| Weiss-Kruszka Syndrome |
|
Dysplastic corpus callosum |
ORPHA:502430 |
| Whipple Disease |
|
Myocarditis, Polydipsia, Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, ... |
ORPHA:3452 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Macrothrombocytopenia, Thrombocytopenia, Anemia |
OMIM:616176 |
| Familial Glucocorticoid Deficiency |
|
Hyperkalemia, Hypoglycemic seizures, Ketotic hypoglycemia, Hyponatremia, Decreased circulating co... |
ORPHA:361 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Lipoatrophy, Hypertension, Splenomegaly, Hepatic steatosis, Secondary ameno... |
ORPHA:79083 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Elevated... |
OMIM:615559 |
| Ornithine Transcarbamylase Deficiency |
|
Hyperammonemia, Hypoglycemia |
ORPHA:664 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Large for gestational age, Enlarged kidney, Sacral dimple, Inguinal hernia, Kyphosis, Umbilical h... |
OMIM:618272 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Anemia, Elevated circulating creatine kinase concentration |
OMIM:618838 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Elevated circulating thyroid-stimulating hormone concentration, Impaired sensitivity to thyroid s... |
ORPHA:90673 |
| Propionic Acidemia |
|
Cerebellar hemorrhage, Increased level of hippuric acid in urine, Pancreatitis, Hepatomegaly, Ane... |
OMIM:606054 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteoscleros... |
OMIM:607634 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Rickets, Anorexia, Isothenuria, Hypokalemia, Reticulocytosis, Failure to thrive, Nephrocalcinosis... |
OMIM:611590 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Hypospadias, Inguinal hernia, Bradycardia, Pulmonary arterial hypertension, Failure to thrive, Op... |
OMIM:619272 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Erythroid hyperplasia,... |
OMIM:301083 |
| Pandas |
|
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... |
ORPHA:66624 |
| Atrial Fibrillation, Familial, 10 |
|
Paroxysmal atrial fibrillation, Left atrial enlargement, Atrial flutter, Bradycardia, Permanent a... |
OMIM:614022 |
| Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Hypokalemia, Hypocalcemia, Osteomalacia, Elevated circulating creatinine con... |
OMIM:179800 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathi... |
OMIM:235400 |
| Cholera |
|
Hypokalemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypoglycemia |
ORPHA:173 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Renal tubular epithelial necrosis, Bradycardia, Ureterocele, Abnormal blood ion concentration, Ab... |
ORPHA:79404 |
| Juvenile Polyposis Of Infancy |
|
Anemia, Cachexia, Abnormal heart morphology, Hypoalbuminemia, Atrial septal defect, Refractory an... |
ORPHA:79076 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Optic Atrophy 11 |
|
Optic atrophy, Hyperactivity, Optic nerve hypoplasia, Athetosis, Gait apraxia, Attention deficit ... |
OMIM:617302 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipos... |
OMIM:608600 |
| Meckel Syndrome, Type 8 |
|
Enlarged kidney, Polycystic kidney dysplasia, Pericardial effusion, Short neck, Hyperechogenic ki... |
OMIM:613885 |
| Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79273 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Gait disturbance, Basal ganglia calcificatio... |
OMIM:221770 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Atrial septal defect, Bradycardia |
OMIM:613087 |
| Gm1-Gangliosidosis, Type Iii |
|
Hepatomegaly, Anterior beaking of lumbar vertebrae, Scoliosis, Kyphosis, Dystonia, Ataxia, Spleno... |
OMIM:230650 |
| Congenital Rubella Syndrome |
|
Atrial septal defect, Jaundice, Hepatomegaly, Anemia, Aplasia/Hypoplasia of the iris, Corneal opa... |
ORPHA:290 |
| Mirage Syndrome |
|
Leukopenia, Lymphopenia, Adrenal insufficiency, Hypospadias, Scoliosis, Hyponatremia, Achalasia, ... |
OMIM:617053 |
| Niemann-Pick Disease, Type A |
|
Irritability, Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Inability to walk, Bone-marr... |
OMIM:257200 |
| Wilson Disease |
|
Cirrhosis, Jaundice, Hepatomegaly, Anemia, Difficulty walking, Acute hepatitis, Kayser-Fleischer ... |
ORPHA:905 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Dense calvaria, Hyperactivity, Asymmetric septal hypertrophy, Ovoid thoracolumbar v... |
OMIM:252920 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia |
ORPHA:83601 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia |
OMIM:166910 |
| Von Hippel-Lindau Syndrome |
|
Hepatic hemangioma, Neoplasm of the pancreas, Pheochromocytoma, Retinal capillary hemangioma, Hyp... |
OMIM:193300 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Hydrocephalus, Microcephaly, Ataxia, Colpoce... |
OMIM:616034 |
| Immunodeficiency 69 |
|
Anemia, Hemophagocytosis, Thrombocytosis, Pancytopenia, Leukocytosis, Failure to thrive, Hepatosp... |
OMIM:618963 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Elevated circulating creatine kinase concentration, Failure to thrive, Small for gestational age,... |
OMIM:619055 |
| Pearson Syndrome |
|
Steatorrhea, Cardiomyopathy, Reticulocytosis, Bone marrow hypocellularity, Abnormal heart morphol... |
ORPHA:699 |
| Martsolf Syndrome 2 |
|
Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum |
OMIM:619420 |
| Camurati-Engelmann Disease |
|
Anemia, Diaphyseal sclerosis, Increased bone mineral density, Waddling gait, Cortical thickening ... |
OMIM:131300 |
| Mucopolysaccharidosis Type 3 |
|
Reduced bone mineral density, Abnormal form of the vertebral bodies, Hyperactivity, Corneal opaci... |
ORPHA:581 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertriglyceridemia, Congestive heart failure, Lipoatrophy, Hepatomegaly, Pancreatitis, Glomerul... |
ORPHA:2348 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperkalemia, Decreased circulating renin level, Hypertension, Pseudohypoaldosteronism, Hyperchlo... |
OMIM:614492 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Iron deficiency anemia, Hypo... |
OMIM:618885 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Bradycardia, Optic nerve hypoplasia, Thyroid hypopla... |
ORPHA:226307 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoalbuminemia, Failure to thrive, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:618329 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Sick sinus syndrome, Bradycardia, Keratoconus, Patent foramen ovale, Ventricular escape rhythm, A... |
ORPHA:542306 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Hydrocephalus, Polymicrogyria, Reduced cereb... |
OMIM:620156 |
| Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Bradycardia, Depression, Jaw claudication, Weight loss, Syncope, Abnor... |
ORPHA:221098 |
| Alstrom Syndrome |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypertension, Kyphosis, Attenuatio... |
OMIM:203800 |
| Alg9-Cdg |
|
Enlarged kidney, Abnormal bone ossification, Hypoplasia of the ovary, Abnormal heart morphology, ... |
ORPHA:79328 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hypertriglyceridemia, Anemia, Acute myeloid leukemia, Elevated circulating C-reactive protein con... |
ORPHA:158057 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Cortical thickening of long bone diaphyses |
OMIM:166740 |
| Igg4-Related Kidney Disease |
|
Enlarged kidney, Sclerosing cholangitis, Pericarditis, Elevated circulating creatinine concentrat... |
ORPHA:449395 |
| Attrv122I Amyloidosis |
|
Abnormal atrioventricular conduction, Congestive heart failure, Anemia, Increased circulating NT-... |
ORPHA:85451 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperkalemia, Hyponatremia, Hypoglycemia, Decreased circulating cortisol level |
ORPHA:90790 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anem... |
OMIM:274150 |
| X-Linked Sideroblastic Anemia |
|
Glucose intolerance, Anemia, Splenomegaly, Abnormality of iron homeostasis |
ORPHA:75563 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Camptodactyly, Coronal craniosynostosis, Pericardial effusion, Hypo... |
OMIM:235510 |
| Leprechaunism |
|
Enlarged kidney, Clitoral hypertrophy, Nephrocalcinosis, Hyperaldosteronism, Labial hypertrophy, ... |
ORPHA:508 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Failure to thrive, Hypoalbuminemia, Anemia, Craniosynostosis |
ORPHA:79396 |
| Yellow Fever |
|
Hematemesis, Acute kidney injury, Jaundice, Reduced left ventricular ejection fraction, Bradycard... |
ORPHA:99829 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Hypoplasia of the corpus callosum, Lateral ventricle dilatation |
OMIM:616816 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Inguinal hernia, Epiphyseal stippling, Vacuolated lymphocytes, Bone-marrow foam cel... |
OMIM:256550 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
3-Methylglutaconic aciduria, Neonatal hypoglycemia, Jaundice, Bradycardia, Tremor, Failure to thr... |
OMIM:617248 |
| Mevalonic Aciduria |
|
Kyphoscoliosis, Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactiv... |
OMIM:610377 |
| 19P13.12 Microdeletion Syndrome |
|
Self-injurious behavior, Aortic regurgitation, Hypospadias, Hyperactivity, Scoliosis, Hyperlipide... |
ORPHA:254346 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Gastrointestinal hemorrhage, Decreased glomerular filtra... |
ORPHA:85450 |
| Hemochromatosis, Neonatal |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Abnormali... |
OMIM:231100 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Generalized ... |
OMIM:166600 |
| Narcolepsy 7 |
|
Narcolepsy, Type II diabetes mellitus |
OMIM:614250 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Enlarged kidney, Biliary atresia, Pulmonic stenosis, Absence of the sacrum, Cardiomegaly, Right a... |
OMIM:306955 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hypertriglyceridemia, Lipoatrophy, Decreased HDL cholesterol concentration, Splenomegaly, Hepatic... |
ORPHA:280365 |
| Orotic Aciduria |
|
Oroticaciduria, Hematuria, Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Congestive heart failure, Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic a... |
ORPHA:75564 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Mesocardia, Bradycardia, Pulmonic stenosis, Arrhythmia, Abnormal heart morphology, Discordant atr... |
ORPHA:216694 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
| Autoimmune Hypoparathyroidism |
|
Hypocalcemic seizures, Hypocalcemia, Increased bone mineral density, Hypocalcemic tetany, Hyperph... |
ORPHA:36913 |
| Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Hypoglycemia, Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, T... |
ORPHA:199299 |
| Long Qt Syndrome 15 |
|
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... |
OMIM:616249 |
| Colchicine Poisoning |
|
Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blood ion con... |
ORPHA:31824 |
| Peripartum Cardiomyopathy |
|
Left atrial enlargement, Sinus tachycardia, Hypertension, Heart murmur, Left ventricular hypertro... |
ORPHA:563 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Myoglobinuria, Premature thelarche, Gait ataxia, Hyperammonemia, Ataxia, Elevated circulating acy... |
OMIM:616878 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Inguinal hernia, Myopic astigmatism, Hyperactivity, Scoliosis, Impulsivity, Frequent temper tantr... |
OMIM:620141 |
| Helsmoortel-Van Der Aa Syndrome |
|
Enlarged kidney, Hyperactivity, Hyperlordosis, Abnormal heart morphology, Dysphagia, Mitral valve... |
OMIM:615873 |
| Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl... |
OMIM:237800 |
| Sialidosis Type 1 |
|
Increased urinary O-linked sialopeptides, Abnormal form of the vertebral bodies, Scoliosis, Tremo... |
ORPHA:812 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenome... |
OMIM:613101 |
| Acquired Methemoglobinemia |
|
Tachycardia, Confusion, Hypoxemia, Arrhythmia, Syncope, Palpitations, Cyanosis, Methemoglobinemia |
ORPHA:464453 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia |
OMIM:620157 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Microcephaly, Agenesis of corpus callosum |
OMIM:619955 |
| Diamond-Blackfan Anemia 7 |
|
Osteopenia, Macrocytic anemia, Increased mean corpuscular volume, Osteoporosis, Secundum atrial s... |
OMIM:612562 |
| Diamond-Blackfan Anemia 20 |
|
Anemia, Erythroid hypoplasia |
OMIM:618313 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Bence Jones Proteinuria, Anemia, Lymphadenopathy, Osteoporosis, Splenomegaly, Abnor... |
ORPHA:100024 |
| Shwachman-Diamond Syndrome |
|
Aplastic anemia, Macrocytic anemia, Chronic neutropenia, Abnormal heart morphology, Leukopenia, I... |
ORPHA:811 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyperkalemia, Neonatal hypoglycemia, Increased circulating renin level, Hyponatremia, Decreased c... |
ORPHA:90791 |
| Mody |
|
Hepatocellular adenoma, Retinopathy, Transient neonatal diabetes mellitus, Elevated hemoglobin A1... |
ORPHA:552 |
| Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Hepatomegaly, Osteoporosis, Splenomegaly, Conjugated hy... |
ORPHA:186 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Maternal diabete... |
OMIM:604367 |
| Fanconi Renotubular Syndrome 3 |
|
Rickets, Elevated circulating creatinine concentration, Aminoaciduria |
OMIM:615605 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Pol... |
OMIM:263200 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hyperlordosis, Cardiomyopathy, Hyperammonemia, Abnormal heart morphology, Dysphagia, Elevated cir... |
ORPHA:26791 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hypertriglyceridemia, Clitoral hypertrophy, Cystic angiomatosis of bone, Elevated hemoglobin A1c,... |
OMIM:269700 |
| Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Prolonged QT interval, Conjunctival icterus, Third heart sound, Ascites,... |
ORPHA:57777 |
| Sudden Cardiac Failure, Infantile |
|
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro... |
OMIM:617222 |
| Snakebite Envenomation |
|
Hyponatremia |
ORPHA:449285 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus, Cholestasis, Hypertrop... |
OMIM:615415 |
| Cockayne Syndrome |
|
Delayed puberty, Urinary incontinence, Cachexia, Retinal atrophy, Hypertension, Kyphosis, Cogniti... |
ORPHA:191 |
| Preeclampsia |
|
Elevated circulating creatinine concentration, Thrombocytopenia, Small for gestational age |
ORPHA:275555 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Microcephaly, Diffuse cerebral atrophy, Lateral ventricle dilatation, Corpus callosum atrophy |
ORPHA:77299 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ... |
OMIM:208540 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hypertension, Bone marrow hypocellularity, Leukopenia, Splenomegaly, Ataxia, Lymphopenia, Type I ... |
OMIM:615688 |
| Developmental And Epileptic Encephalopathy 101 |
|
Limb joint contracture, Third degree atrioventricular block, Opisthotonus, Bradycardia |
OMIM:619814 |
| Encephalitis Lethargica |
|
Urinary incontinence, Bradycardia, Tremor, Lethargy, Mental deterioration, Hyperventilation |
ORPHA:83600 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hepatocellular adenoma, Ketotic hypoglycemia, Myoglobinuria, Increased body... |
ORPHA:79240 |
| Proteus Syndrome |
|
Enlarged kidney, Abnormal form of the vertebral bodies, Lipoma, Cachexia, Calvarial hyperostosis,... |
ORPHA:744 |
| Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormal vertebral morphology, Abnormality of the tonsils, Abnormal heart valve mor... |
ORPHA:93476 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly |
OMIM:617441 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Anemia, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Arthritis, Decr... |
OMIM:619381 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Reduced bone mineral density, Hyperechogenic pancreas, Hyperactivity, Bone marro... |
OMIM:617052 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Decreased circulating cortisol level |
OMIM:300200 |
| African Trypanosomiasis |
|
Urinary incontinence, Abnormality of the endocrine system, Optic neuritis, Impotence, Abnormal gr... |
ORPHA:3385 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... |
ORPHA:90650 |
| Osteogenesis Imperfecta, Type Xiii |
|
Reduced bone mineral density, Limitation of knee mobility, Increased bone mineral density, Decrea... |
OMIM:614856 |
| Diastrophic Dysplasia |
|
Joint stiffness, Joint hypermobility, Camptodactyly of finger, Increased bone mineral density |
ORPHA:628 |
| Legionnaires Disease |
|
Myocarditis, Anorexia, Jaundice, Hematuria, Pancreatitis, Lymphadenopathy, Hypotension, Hepatitis... |
ORPHA:549 |
| Spherocytosis, Type 5 |
|
Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia, Abnormal... |
OMIM:612690 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils, Radioulnar synostosis |
ORPHA:2760 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Rickets, Irritability, Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Hep... |
ORPHA:289157 |
| Joubert Syndrome 23 |
|
Dysplastic corpus callosum |
OMIM:616490 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia |
OMIM:614495 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Clitoral hypertrophy, Cholestasis, Renal cortical microcysts, Splenomegaly, Heart murmur, Optic n... |
OMIM:614866 |
| Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Depression, Decreased body weight, Thrombocytopenia, Splenomegaly, At... |
OMIM:231000 |
| Cardiomyopathy, Dilated, 1D |
|
Congestive heart failure, Prolonged QT interval, Increased circulating brain natriuretic peptide ... |
OMIM:601494 |
| Mucopolysaccharidosis Type 2 |
|
Hyperactivity, Hypertension, Cardiomyopathy, Corneal opacity, Impulsivity, Cognitive impairment, ... |
ORPHA:580 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Microcephaly, Thin corpus callosum, Partial agenesis of the corpus callosum, Lateral ventricle di... |
OMIM:619517 |
| Infant Acute Respiratory Distress Syndrome |
|
Bradycardia, Cardiac arrest, Hypotension, Hypoxemia, Tachycardia, Cyanosis |
ORPHA:70587 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia |
OMIM:614496 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Pericardial effusion, Hypomagnesemia, Hypoalbum... |
OMIM:618183 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Limited elbow movement, Localized osteoporosis, Stiff knee, Hip osteoarthritis, Increased bone mi... |
ORPHA:93284 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Enlarged kidney, Decreased glomerular filtration rate, Hypertension, Pituitary growth hormone cel... |
ORPHA:730 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Periventricular ... |
OMIM:616900 |
| Mucolipidosis Iv |
|
Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly |
OMIM:252650 |
| Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
| Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Elliptocytosis, Hemolytic anemia, Microspherocytosis |
OMIM:266140 |
| Renal Hypoplasia, Bilateral |
|
Hyperkalemia, Hyponatremia, Glycosuria |
ORPHA:97362 |
| Pontocerebellar Hypoplasia Type 2 |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Abnormal cortical gyration, Progre... |
ORPHA:2524 |
| Hereditary Methemoglobinemia |
|
Athetosis, Small for gestational age, Methemoglobinemia |
ORPHA:621 |
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Memory impairment, Depression, Ataxia, Dementia, Narcolepsy |
OMIM:604121 |
| Addison Disease |
|
Delayed puberty, Generalized bone demineralization, Decreased circulating cortisol level, Type I ... |
ORPHA:85138 |
| Rh-Null, Amorph Type |
|
Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia |
OMIM:617970 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Situs inversus totalis, Hepatomegaly, Dextrocardia, Hypokalemia, Elevated circulating alpha-fetop... |
OMIM:613095 |
| Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
| Primary Myelofibrosis |
|
Anorexia, Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Cachexia, Leukocyt... |
ORPHA:824 |
| Atrial Standstill 2 |
|
Scarring, Bradycardia, Cardiomyopathy, Atrial arrhythmia, Hyperpepsinogenemia I, Dilatation of th... |
OMIM:615745 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Microcephaly, Thin corpus callosum, Inability to walk, Lateral ventricle dilatation |
OMIM:615716 |
| Galloway-Mowat Syndrome 1 |
|
Camptodactyly, Ataxia, Hypoalbuminemia, Small for gestational age, Joint contracture of the hand |
OMIM:251300 |
| Hurler Syndrome |
|
Calvarial hyperostosis, Cardiomyopathy, Corneal opacity, Kyphosis, Dermatan sulfate excretion in ... |
OMIM:607014 |
| Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Reduced bone mineral density, Hepatomegaly, Gastrointestinal hemorrhage, Abn... |
ORPHA:1414 |
| Erdheim-Chester Disease |
|
Abnormal aortic valve morphology, Anemia, Increased bone mineral density, Abnormal pericardium mo... |
ORPHA:35687 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Thrombocytopenia |
ORPHA:1237 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Abnormal bone ossification, Delayed patellar ossification |
ORPHA:163649 |
| Acute Adrenal Insufficiency |
|
Hyperkalemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, Decreased circulati... |
ORPHA:95409 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Elevated circulating creatine kinase concentration, Dysphagia, Decreased fertility, Testi... |
OMIM:313200 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Elevated hepatic iron concentrati... |
OMIM:615234 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Limb ataxia, Broad-based gait, Truncal ataxia, Recurrent hand flapping, Persistence of hemoglobin... |
OMIM:617101 |
| Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
ORPHA:427 |
| Xfe Progeroid Syndrome |
|
Cachexia, Failure to thrive, Hypoalbuminemia |
OMIM:610965 |
| Galloway-Mowat Syndrome 3 |
|
Failure to thrive, Hypoalbuminemia, Camptodactyly |
OMIM:617729 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Memory impairment, Depression, Resting tremor, Head tremor, Ataxia, Narcolepsy, Mental deterioration |
ORPHA:314404 |
| Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification |
OMIM:215045 |
| Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Hypoplasia of the corpus callosum, Microcephaly, Lateral ventricle dilatation |
OMIM:618890 |
| Lymphoid Interstitial Pneumonia |
|
Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy, Abnormality of connective tissue, Hyp... |
ORPHA:79128 |
| Alg8-Cdg |
|
Hyponatremia |
ORPHA:79325 |
| Myotonic Dystrophy 1 |
|
Obsessive-compulsive trait, Atrial flutter, Cholelithiasis, Atrial fibrillation, Dysphagia, Hypog... |
OMIM:160900 |
| Choreoacanthocytosis |
|
Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Abnormal erythrocyte ... |
ORPHA:2388 |
| Gm1-Gangliosidosis, Type Ii |
|
Optic atrophy, Beaking of vertebral bodies, Sea-blue histiocytosis, Hepatomegaly, Platyspondyly, ... |
OMIM:230600 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Na... |
OMIM:600376 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Elevated circulating palmitoleylcarnitine concentration, Hyperammonemia, Hypomethioninemia, Ataxi... |
ORPHA:79282 |
| Legius Syndrome |
|
Xanthelasma, Ovarian neoplasm, Hyperactivity, Scoliosis, Acute monocytic leukemia, Nephrolithiasi... |
ORPHA:137605 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased circulating prealbumin concentration, Lymphopenia, Reduced circulating transferrin conc... |
ORPHA:90363 |
| Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Bradykinesia, Secondary microcephaly, Thin corpus callosum, Inability to walk, Broad-based gait, ... |
OMIM:617854 |
| Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Internal hemorrhage, Decreased testicular size, Splenic rupture, Develo... |
ORPHA:335 |
| Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Leukopenia, Splenomeg... |
OMIM:278000 |
| Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
| Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Dense calvaria, Inguinal hernia, Hyperactivity, Scoliosis, Asymmetric septal hypert... |
OMIM:252900 |
| Bohring-Opitz Syndrome |
|
Optic atrophy, Annular pancreas, Severe failure to thrive, Inability to walk, Cholelithiasis, Bra... |
ORPHA:97297 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Exercise-induced myoglobinuria, Retinal dystrophy, Emotional lability, Reticulocytosis, Ataxia, E... |
OMIM:300653 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Microcephaly, Dandy-Walker malformation, Agenesis of corpus callosum, Lateral ventricle dilatation |
OMIM:618736 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Optic atrophy, Abnormality of the kidney, Anemia, Ambiguous genitalia, Hypoplasia of penis, Depre... |
ORPHA:847 |
| Pseudo-Torch Syndrome 3 |
|
Anemia, Leukocytosis, Cardiomegaly, Increased circulating ferritin concentration, Congenital thro... |
OMIM:618886 |
| Muckle-Wells Syndrome |
|
Optic atrophy, Delayed puberty, Hepatomegaly, Anemia, Vasculitis, Nephrotic syndrome, Hernia of t... |
ORPHA:575 |
| Oculoskeletodental Syndrome |
|
Hepatomegaly, Hypocalcemia, Hypercalciuria, Scoliosis, Thoracic kyphosis, Elbow flexion contractu... |
OMIM:618440 |
| Juvenile Nephropathic Cystinosis |
|
Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Glycosuria, Hypophosphatemia, Hypocalcemic... |
ORPHA:411634 |
| Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Enlarged kidney, Mesocardia, Aplasia of the uterus, Bifid scrotu... |
OMIM:618280 |
| Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Coarse metaphyseal trabecularization, ... |
ORPHA:1782 |
| Steinert Myotonic Dystrophy |
|
Impotence, Cognitive impairment, Prolonged QRS complex, Aggressive behavior, Decreased response t... |
ORPHA:273 |
| Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
| Tay-Sachs Disease |
|
Optic atrophy, Inability to walk, Memory impairment, Depression, Increased serum beta-hexosaminid... |
ORPHA:845 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Poikilocytosis, Bone marrow hypocellularity, Elliptocytosis, Anisocytosis, Thr... |
OMIM:300835 |
| Beta-Ketothiolase Deficiency |
|
Anorexia, Agitation, Hepatomegaly, Hyperuricemia, Hypertension, Leukocytosis, Hypotension, Hypera... |
ORPHA:134 |
| Sandhoff Disease |
|
Urinary incontinence, Hepatomegaly, Orthostatic hypotension, Progressive psychomotor deterioratio... |
OMIM:268800 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Hypertension, Hyperlipidemia, Increased body weight, Cognitive impairment, Abnormal response to c... |
ORPHA:189427 |
| Cystinosis, Nephropathic |
|
Recurrent corneal erosions, Polydipsia, Delayed puberty, Generalized aminoaciduria, Primary hypot... |
OMIM:219800 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Optic atrophy, Atrial septal defect, Spinal rigidity, Transposition of the great arteries, Retina... |
OMIM:253800 |
| Harderoporphyria |
|
Increased urine harderoporphyrin level, Hepatomegaly, Red urine, Increased urinary porphobilinoge... |
OMIM:618892 |
| Neonatal Lupus Erythematosus |
|
Aplastic anemia, Hepatomegaly, Anemia, Prolonged QT interval, Heart block, Pancytopenia, Abnormal... |
ORPHA:398124 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Dicarboxylic aciduria, Exercise-induced myoglobinuria, Hepatomegaly, Reduced left ventricular eje... |
OMIM:201475 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Irritability, Hepatomegaly, Emotional lability, Tremor, Decreased testicular size, Failure to thr... |
OMIM:201100 |
| Kawasaki Disease |
|
Myocarditis, Elevated circulating C-reactive protein concentration, Abnormal heart valve morpholo... |
ORPHA:2331 |
| Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:614817 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia |
OMIM:620481 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Primary Sclerosing Cholangitis |
|
Osteopenia, Hepatomegaly, Osteoporosis, Hepatosplenomegaly, Splenomegaly, Weight loss, Hypoalbumi... |
ORPHA:171 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Hypospadias, Failure to thrive, Flexion contracture, Short neck, Cryptorchidism, ... |
ORPHA:98791 |
| Cinca Syndrome |
|
Reduced bone mineral density, Anemia, Hepatomegaly, Elevated circulating C-reactive protein conce... |
ORPHA:1451 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Osteopetrosis, Difficulty walking, Diaphyseal sclerosis, Hypocalcemia, Increased skull ossificati... |
OMIM:618476 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Bradycardia, Aspiration, Hypertension, Corneal scarring, Retinal hemorrhage, Flexion contracture,... |
OMIM:614653 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
| Waldenström Macroglobulinemia |
|
Anorexia, Congestive heart failure, Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage,... |
ORPHA:33226 |
| Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
| Lesch-Nyhan Syndrome |
|
Hyperuricemia, Megaloblastic anemia, Nephrolithiasis, Nephrocalcinosis, Opisthotonus, Dysphagia, ... |
OMIM:300322 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Difficulty walking, Elevated circulating creatine kinase concentration, Sinus bradycardia, Loss o... |
OMIM:616812 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Abnormality of the endocrine system, Pulmonic stenosis, Abnormal heart morphology, Decreased circ... |
ORPHA:438213 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Dysplastic corpus callosum, Secondary microcephaly, Inability to walk, Dandy-Walker malformation,... |
ORPHA:357058 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Dysplastic corpus callosum, Polymicrogyria, Microcephaly, Agenesis of corpus callosum, Lissencephaly |
OMIM:614833 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Developmental glaucoma, Increased circulating thyroglobulin concentration, Cholestasis, Splenomeg... |
OMIM:610199 |
| Pycnodysostosis |
|
Generalized osteosclerosis, Increased bone mineral density, Osteolytic defects of the distal phal... |
ORPHA:763 |
| Typhoid |
|
Gastrointestinal hemorrhage, Hepatomegaly, Tremor, Cardiac arrest, Epistaxis, Splenomegaly, Ataxi... |
ORPHA:99745 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphoscoliosis, HbH hemoglobin, Perimembranous ventricular septal defect, Hypochromic microcytic ... |
OMIM:301040 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Spontan... |
OMIM:187300 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Cranial hyperostosis, Osteopetrosis, Anemia, Diaphyseal sclerosis, Hepatosplenomegaly, Extramedul... |
OMIM:259730 |
| Combined Oxidative Phosphorylation Deficiency 39 |
|
Scoliosis, Congenital contracture, Sinus bradycardia, Joint contracture, Flexion contracture, Dys... |
OMIM:618397 |
| Joubert Syndrome 3 |
|
Thin corpus callosum, Frontal polymicrogyria, Enlarged fossa interpeduncularis, Ataxia, Lateral v... |
OMIM:608629 |
| Pituitary Apoplexy |
|
Hyponatremia, Hypoglycemia, Increased circulating cortisol level |
ORPHA:95613 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis |
OMIM:179700 |
| Juvenile Polyposis Syndrome |
|
Failure to thrive, Hypoproteinemia, Anemia |
ORPHA:2929 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Corneal neovascularization, Reduced bone mineral density, Generalized aminoaciduria, Hypotriglyce... |
ORPHA:404454 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Iron deficiency anemia, L... |
OMIM:603909 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal QRS complex, Abnormality of blood circulation, Hypoxemia, Abnormal mitral valve morpholo... |
ORPHA:860 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Metatarsal diaphys... |
OMIM:144750 |
| Williams Syndrome |
|
Abnormal circulating lipid concentration, Obesity, Hypoplasia of penis, Abnormal form of the vert... |
ORPHA:904 |
| Gaucher Disease, Type I |
|
Hepatomegaly, Anemia, Vertebral compression fracture, Pancytopenia, Hypertension, Pulmonary arter... |
OMIM:230800 |
| Cach Syndrome |
|
Limb ataxia, Globus pallidus hypointensity on susceptibility-weighted imaging, Cerebral atrophy, ... |
ORPHA:135 |
| C3 Glomerulopathy |
|
Elevated circulating creatinine concentration |
ORPHA:329918 |
| Dohle Bodies And Leukemia |
|
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies |
OMIM:223350 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Enlarged kidney, Subperiosteal bone formation, Unilateral renal agenesis, Inguinal he... |
OMIM:618188 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Hypertriglyceridemia, Clitoral hypertrophy, Cystic angiomatosis of bone, Cardiomyopathy, Splenome... |
OMIM:608594 |
| Gitelman Syndrome |
|
Polydipsia, Delayed puberty, Urinary incontinence, Neoplasm of the pancreas, Prolonged QT interva... |
ORPHA:358 |
| Tangier Disease |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin... |
OMIM:205400 |
| Diamond-Blackfan Anemia |
|
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... |
ORPHA:124 |
| Brucellosis |
|
Pericarditis, Intrarenal abscess, Leukopenia, Splenomegaly, Myocarditis, Anorexia, Depression, Ch... |
ORPHA:1304 |
| Cockayne Syndrome A |
|
Retinal atrophy, Hypertension, Kyphosis, Ataxia, Splenomegaly, Hypogonadism, Optic atrophy, Tremo... |
OMIM:216400 |
| Triosephosphate Isomerase Deficiency |
|
Congestive heart failure, Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic ane... |
OMIM:615512 |
| Niemann-Pick Disease Type C |
|
Ascites, Limb dystonia, Cognitive impairment, Ataxia, Splenomegaly, Dysphagia, Aggressive behavio... |
ORPHA:646 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Increased total iron binding capacity, Jaundice, Increased serum bile acid concentration, Hepatom... |
OMIM:616278 |
| Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... |
OMIM:601859 |
| Trichothiodystrophy |
|
Osteopenia, Anemia, Multiple joint contractures, Increased mean corpuscular hemoglobin concentrat... |
ORPHA:33364 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Coarse metaphyseal trabecularization, Sclerosis of mi... |
ORPHA:85188 |
| Camurati-Engelmann Disease |
|
Delayed puberty, Cachexia, Hyperlordosis, Kyphosis, Leukopenia, Splenomegaly, Hypogonadism, Ataxi... |
ORPHA:1328 |
| Hurler Syndrome |
|
Hepatomegaly, Abnormal vertebral morphology, Angina pectoris, Abnormality of the tonsils, Scolios... |
ORPHA:93473 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Dicarboxylic aciduria, Hepatomegaly, Hypoketotic hypoglycemia, Renal tubular acidosis, Transient ... |
OMIM:255120 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Irritability, Abnormal temper tantrums, Hyperactivity, Depression, Scoliosis, Hypertension, Recur... |
ORPHA:449291 |
| Splenoportal Vascular Anomalies |
|
Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f... |
OMIM:271500 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis, Decreased body weight |
OMIM:617306 |
| Transaldolase Deficiency |
|
Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertrophy, Pancytopenia, Patent... |
OMIM:606003 |
| Fucosidosis |
|
Spastic gait, Absent/hypoplastic coccyx, Splenomegaly, Cardiomegaly, Hernia, Anterior beaking of ... |
OMIM:230000 |
| Pierson Syndrome |
|
Hypoproteinemia |
OMIM:609049 |
| Sick Sinus Syndrome 2 |
|
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... |
OMIM:163800 |
| Shigellosis |
|
Myocarditis, Acute kidney injury, Urethritis, Anorexia, Hemolytic-uremic syndrome, Corneal ulcera... |
ORPHA:810 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Polydipsia, Delayed puberty, Hyperlipidemia, Aggressive behavior, Decreased response to growth ho... |
ORPHA:293987 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Retinopathy, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart... |
ORPHA:353281 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Simplified gyral pattern, La... |
ORPHA:284417 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Large for gestational age, Enlarged kidney, Astigmatism, Spina bifida occulta,... |
ORPHA:500095 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Femur fracture, Osteopetrosis, Hypocalcemic seizures, Anemia, Hepatomegaly, Abnormal trabecular b... |
OMIM:612301 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hematemesis, Decreased glomerular filtration rate, Decreased urine output, Hypertension, Epistaxi... |
ORPHA:340 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Anemia, Gout, Hyperuricemia |
OMIM:174000 |
| Beckwith-Wiedemann Syndrome |
|
Neonatal hypoglycemia, Enlarged kidney, Hepatomegaly, Adrenocortical carcinoma, Renal cortical cy... |
OMIM:130650 |
| Holoprosencephaly |
|
Congenital diaphragmatic hernia, Hypoplasia of penis, Abnormal form of the vertebral bodies, Cogn... |
ORPHA:2162 |
| Kennedy Disease |
|
Abnormal circulating lipid concentration, Erectile dysfunction, Gait disturbance, Type II diabete... |
ORPHA:481 |
| Fetal Cytomegalovirus Syndrome |
|
Optic atrophy, Jaundice, Anemia, Hepatomegaly, Chorioretinitis, Retinal hemorrhage, Thrombocytope... |
ORPHA:294 |
| Glutamate-Cysteine Ligase Deficiency |
|
Jaundice, Reticulocytosis, Hepatosplenomegaly, Ataxia, Aminoaciduria, Hemolytic anemia |
ORPHA:33574 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Enlarged kidney, Sacral dimple, Abnormal vertebral morphology, Transposition of the great arterie... |
OMIM:314390 |
| Aredyld Syndrome |
|
Lipoatrophy, Hepatomegaly, Craniofacial hyperostosis, Abnormal dental enamel morphology, Scoliosi... |
ORPHA:1133 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Hypoplasia of the corpus callosum, Inability to walk, Dandy-Walker malformation, Gait ataxia, Mic... |
OMIM:618606 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Anemia, Increased mean corpuscular volume, Osteoporosis, Leukopenia, Thrombocyto... |
OMIM:127550 |
| Cockayne Syndrome Type 3 |
|
Retinal atrophy, Cardiomyopathy, Kyphosis, Cognitive impairment, Splenomegaly, Difficulty walking... |
ORPHA:90324 |
| Porphyria Variegata |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79473 |
| Hardikar Syndrome |
|
Hematemesis, Intrahepatic bile duct dilatation, Hypertension, Cholestasis, Prolonged neonatal jau... |
OMIM:301068 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Neonatal hypoglycemia, Hyperactivity, Scoliosis, Recurrent hand flapping, Pulmonic stenosis, Slen... |
OMIM:617600 |
| Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Hepatomegaly, Ascites, Polysplenia, Omphalocele, Short neck, Craniosynostosis, H... |
OMIM:200995 |
| Gm1-Gangliosidosis, Type I |
|
Beaking of vertebral bodies, Congestive heart failure, Hepatomegaly, Inguinal hernia, Vacuolated ... |
OMIM:230500 |
| Lymphoproliferative Syndrome 1 |
|
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Elevated circulating C-react... |
OMIM:613011 |
| Fanconi Anemia, Complementation Group V |
|
Microcephaly, Thrombocytopenia, Anemia, Neutropenia |
OMIM:617243 |
| Behçet Disease |
|
Gastrointestinal hemorrhage, Optic neuritis, Cerebral ischemia, Retinopathy, Pericarditis, Ataxia... |
ORPHA:117 |
| Illum Syndrome |
|
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia |
OMIM:208155 |
| Meacham Syndrome |
|
Blind vagina, Enlarged kidney, Transposition of the great arteries, Dextrocardia, Cardiac total a... |
OMIM:608978 |
| Infant Botulism |
|
Hyponatremia |
ORPHA:178478 |
| Histiocytoid Cardiomyopathy |
|
Corneal opacity, Congenital aphakia, Cardiomegaly, Optic atrophy, Failure to thrive, Lethargy, Wo... |
ORPHA:137675 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Osteopetrosis, Increased bone mineral density, Aortic valve stenosis, Coarse metaphyseal trabecul... |
ORPHA:2780 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Conjunctival icterus, Hypertension, Abnormal erythrocyte enzyme concentration or activity, Impote... |
ORPHA:447 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, ... |
ORPHA:90301 |
| Romano-Ward Syndrome |
|
Torsade de pointes, Hypokalemia, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmi... |
ORPHA:101016 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Microcephaly, Polymicrogyria, Colpocephaly |
OMIM:618731 |
| Denys-Drash Syndrome |
|
Congenital diaphragmatic hernia, Ambiguous genitalia, male, Enlarged kidney, Gonadal dysgenesis, ... |
OMIM:194080 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Lissencephaly, Hydrocephalus, Communicating hydrocephalus, Microcephaly, Colpocephaly, Simplified... |
OMIM:615219 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Retinal dystrophy, Hyperbilirubinemia, Myoglobinuria, Tremor, Reticulocytosis, Decreased hemoglob... |
ORPHA:713 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Recurrent hypoglycemia |
ORPHA:293978 |
| Desmosterolosis |
|
Osteopetrosis, Increased bone mineral density, Failure to thrive, Splenomegaly, Anomalous pulmona... |
ORPHA:35107 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de... |
ORPHA:289176 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Elevated circulating creatinine concentration, Cardiomyopathy, Normochromic an... |
ORPHA:247691 |
| Hereditary Spherocytosis |
|
Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... |
ORPHA:822 |
| Methylmalonic Aciduria, Cblb Type |
|
Elevated circulating methylmalonylcarnitine concentration, Methylmalonic aciduria, Methylmalonic ... |
OMIM:251110 |
| Seckel Syndrome 10 |
|
Hypertriglyceridemia, Congestive heart failure, Glucose intolerance, Retinal detachment, Hyperten... |
OMIM:617253 |
| Immunodeficiency 97 With Autoinflammation |
|
Hypertriglyceridemia, Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis,... |
OMIM:619802 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Thyroiditis... |
OMIM:619375 |
| Aarskog-Scott Syndrome |
|
Delayed puberty, Inguinal hernia, Scoliosis, Testicular atrophy, Bilateral cryptorchidism, Shawl ... |
OMIM:305400 |
| Craniosynostosis 6 |
|
Microcephaly, Dandy-Walker malformation, Agenesis of corpus callosum, Lateral ventricle dilatation |
OMIM:616602 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Delayed puberty, Hyperactivity, Bifid scrotum, Kyphosis, Impulsivity, Cognitive impairment, Head ... |
OMIM:619475 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... |
OMIM:616117 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Cerebral atrophy, Dilated third ventricle, Corpus callosum atrophy, Microcephaly, Simplified gyra... |
OMIM:619244 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal tubular epithelial necrosis, Hypoketotic hypoglycemia, Myoglobinuria, Red-brown urine, Hype... |
ORPHA:228308 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hypokalemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemia, Hyponatremia, Thromb... |
ORPHA:90038 |
| Stiff Person Spectrum Disorder |
|
Difficulty walking, Falls, Emotional lability, Exaggerated startle response, Hypothyroidism, Diab... |
ORPHA:3198 |
| Gm2 Gangliosidosis, Ab Variant |
|
Inappropriate behavior, Abnormal fear-induced behavior, Exaggerated startle response, Cognitive i... |
ORPHA:309246 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypoalbuminemia, Hyperlipidemia |
ORPHA:567546 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Osteopenia, Optic atrophy, Calcinosis, Inability to walk, Hypokalemia, Hypocalcemia, Hypertension... |
OMIM:617913 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Pancreatitis, Angina pectoris, Vacuolated lymphocytes, Low-output congestive heart ... |
ORPHA:565612 |
| Spherocytosis, Type 3 |
|
Spherocytosis, Hemolytic anemia |
OMIM:270970 |
| Aicardi-Goutieres Syndrome 7 |
|
Hematemesis, Hypertension, Hematochezia, Splenomegaly, Hepatic steatosis, Irritability, Pancytope... |
OMIM:615846 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Secondary microcephaly, Anisopoikilocytosis, Anemia, Abnormal periventricular white matter morpho... |
OMIM:619835 |
| Chediak-Higashi Syndrome |
|
Jaundice, Neutropenia, Hemophagocytosis, Hepatomegaly, Anemia, Lymphadenopathy, Spontaneous, recu... |
OMIM:214500 |
| Scorpion Envenomation |
|
Prominent U wave, Hypertension, Premature ventricular contraction, Ataxia, T-wave inversion, Myoc... |
ORPHA:466677 |
| Adult-Onset Still Disease |
|
Abnormal circulating lipid concentration, Myocarditis, Hepatomegaly, Anemia, Generalized lymphade... |
ORPHA:829 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyperkalemia, Neonatal hypoglycemia, Abnormal circulating cholesterol concentration, Increased ci... |
ORPHA:168558 |
| Gm1 Gangliosidosis Type 1 |
|
Increased urinary galactosylated oligosaccharide, Beaking of vertebral bodies T12-L3, Cardiomyopa... |
ORPHA:79255 |
| Sickle Cell Disease |
|
Hepatomegaly, Jaundice, Hematuria, Cholelithiasis, Hypertension, Leukocytosis, Splenic infarction... |
OMIM:603903 |
| Ziegler-Huang Syndrome |
|
Macrocytic anemia, Anterior pituitary hypoplasia, Persistence of hemoglobin F, Bone marrow hypoce... |
OMIM:620501 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Dysplastic corpus callosum, Hypochromic microcytic anemia, Secondary microcephaly |
OMIM:619423 |
| Schwartz-Jampel Syndrome |
|
Flexion contracture of toe, Shoulder flexion contracture, Cachexia, Increased bone mineral densit... |
ORPHA:800 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyperkalemia, Neonatal hypoglycemia, Abnormal circulating cholesterol concentration, Increased ci... |
ORPHA:289548 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Flexion contracture of toe, Impair... |
OMIM:256040 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Lipoatrophy, Enlarged kidney, Scoliosis, Abnormality of the lymphatic system, Telangiectasia of t... |
ORPHA:276280 |
| Desmosterolosis |
|
Elevated circulating desmosterol concentration, Abnormal circulating cholesterol concentration, T... |
OMIM:602398 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypertension, Labial pseudohypertr... |
OMIM:151660 |
| Mucopolysaccharidosis, Type Iiid |
|
Agitation, Hepatomegaly, Difficulty walking, Inguinal hernia, Hyperactivity, Elbow flexion contra... |
OMIM:252940 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Spastic gait, Tip-toe gait, Cerebral atrophy, Dilated third ventricle, Lateral ventricle dilatati... |
OMIM:617296 |
| Idiopathic Hypereosinophilic Syndrome |
|
Portal fibrosis, Myocardial eosinophilic infiltration, Splenomegaly, Dysphagia, Cholangitis, Memo... |
ORPHA:3260 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Congestive heart failure, Increased total bilirubin, Splenomegaly, T... |
ORPHA:90037 |
| Coach Syndrome 1 |
|
Cirrhosis, Nephronophthisis, Hepatomegaly, Unilateral renal agenesis, Abnormal abdomen morphology... |
OMIM:216360 |
| Myotonic Dystrophy 2 |
|
Posterior subcapsular cataract, Right bundle branch block, Insulin insensitivity, Elevated circul... |
OMIM:602668 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Elevated circulating creatinine concentration, Hepatomegaly |
OMIM:614376 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Failure to ... |
OMIM:602450 |
| Nephronophthisis 3 |
|
Polydipsia, Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, ... |
OMIM:604387 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Enlarged kidney, Cardiomyopathy, Pulmonic stenosis, Splenomegaly... |
OMIM:312870 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Hypertriglyceridemia, Cholestatic liver disease, Prolonged neonatal jaundice, Splenomegaly, Hepat... |
OMIM:619418 |
| Rabin-Pappas Syndrome |
|
Hyponatremia |
OMIM:620155 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... |
OMIM:314050 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Periventricular leukomalacia, Thin corpus callosum, Hydrocephalus, Microcephaly, Ataxia, Colpocep... |
OMIM:619833 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebral atrophy, Difficulty walking, Athetosis, Abnormal periventricular white matter morphology... |
ORPHA:572798 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... |
OMIM:600858 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Chronic hemolytic anemia, Hepatomegaly, Jaundice, Reduced haptoglobin level, Cholelithiasis, Redu... |
OMIM:266200 |
| Joubert Syndrome With Hepatic Defect |
|
Cirrhosis, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Inguinal hernia, Intr... |
ORPHA:1454 |
| Glycogen Storage Disease Vii |
|
Exercise-induced myoglobinuria, Hematuria, Jaundice, Cholelithiasis, Hyperuricemia, Elevated circ... |
OMIM:232800 |
| Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hypocalcemic seizures, Reduced bone mineral density, Hypocalcemia, Increased bone min... |
ORPHA:79443 |
| Adenohypophysitis |
|
Hyponatremia, Decreased circulating cortisol level |
ORPHA:95512 |
| Aicardi-Goutières Syndrome |
|
Lipoatrophy, Irritability, Developmental glaucoma, Difficulty walking, Multiple joint contracture... |
ORPHA:51 |
| Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration, Anemia |
OMIM:266900 |
| Familial Dysautonomia |
|
Optic atrophy, Abnormality of the kidney, Glomerulopathy, Orthostatic hypotension, Corneal erosio... |
ORPHA:1764 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Inlet ventricular septal defect, Splenomegaly, Joint hypermobility, Elevated circulating creatini... |
OMIM:619534 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Congestive heart failure, Perimembranous ventricular septal defect, Jaundice, Hepatomegaly, Neuro... |
OMIM:608779 |
| Holoprosencephaly 5 |
|
Hydrocephalus, Microcephaly, Lateral ventricle dilatation |
OMIM:609637 |
| 22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Corneal neovascularization, Hypertensive crisis, Multiple suture cra... |
ORPHA:567 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Anemia |
ORPHA:230 |
| Renal Dysplasia |
|
Pelvic mass, Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron mo... |
ORPHA:93108 |
| Developmental And Epileptic Encephalopathy 31B |
|
Secondary microcephaly, Thin corpus callosum, Reduced cerebral white matter volume, Colpocephaly,... |
OMIM:620352 |
| Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Ca... |
ORPHA:75565 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Corneal neovascularization, Hepatomegaly, Elevated circulating C-rea... |
OMIM:617388 |
| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... |
OMIM:604559 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Corneal arcus, Flexion contracture of toe, Joint contracture of the 5th finger, Pulmonic stenosis... |
OMIM:602782 |
| Werner Syndrome |
|
Joint stiffness, Slender build, Osteoporosis, Increased bone mineral density |
ORPHA:902 |
| Cocaine Intoxication |
|
Prolonged QT interval, Hypertension, Prolonged QRS complex, Diffuse alveolar hemorrhage, Mania, A... |
ORPHA:90068 |
| Felty Syndrome |
|
Hepatomegaly, Anemia, Lymphadenopathy, Recurrent urinary tract infections, Abnormal lymphocyte mo... |
ORPHA:47612 |
| Glycogen Storage Disease Xii |
|
Delayed puberty, Normocytic anemia, Jaundice, Reduced haptoglobin level, Decreased erythrocyte fr... |
OMIM:611881 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Dysplastic corpus callosum, Periventricular white matter hyperintensities, Secondary microcephaly |
OMIM:619737 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Irritability, Torticollis, Tongue thrusting, Oculogyric crisis, Emotional lability, Athetosis, Bl... |
OMIM:608643 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Anterior pituitary hypoplasia, Hypoglycemia, Decreased testicular size, Central hypothyroidism, D... |
OMIM:616113 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis, Hepatomegaly, Splenomegaly |
OMIM:618541 |
| Sitosterolemia 1 |
|
Corneal arcus, Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin le... |
OMIM:210250 |
| Leukocyte Adhesion Deficiency |
|
Vaginitis, Hemolytic-uremic syndrome, Acute myeloid leukemia, Recurrent tonsillitis, Recurrent ur... |
ORPHA:2968 |
| Cockayne Syndrome B |
|
Hypertension, Kyphosis, Ataxia, Splenomegaly, Optic atrophy, Severe failure to thrive, Tremor, Os... |
OMIM:133540 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
| Shwachman-Diamond Syndrome 1 |
|
Steatorrhea, Hepatomegaly, Anemia, Acute myeloid leukemia, Pancytopenia, Irregular ossification a... |
OMIM:260400 |
| 8P11.2 Deletion Syndrome |
|
Sacral dimple, Retinal dystrophy, Hypoplasia of penis, Azoospermia, Microcornea, Spherocytosis, A... |
ORPHA:251066 |
| Even-Plus Syndrome |
|
Dysplastic corpus callosum, Agenesis of corpus callosum |
OMIM:616854 |
| Smith-Lemli-Opitz Syndrome |
|
Atrial septal defect, Hepatomegaly, Epiphyseal stippling, Hypertrophic cardiomyopathy, Elevated c... |
OMIM:270400 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Increased blood urea ni... |
ORPHA:49041 |
| Familial Short Qt Syndrome |
|
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... |
ORPHA:51083 |
| Panhypophysitis |
|
Hyponatremia, Decreased circulating cortisol level |
ORPHA:95513 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normochromic anemia, Splenomegaly, Abnormal mast cell morphology, Normocytic anemia, Acute myeloi... |
ORPHA:98849 |
| Glycogen Storage Disease Ii |
|
Urinary incontinence, Hepatomegaly, Increased circulating NT-proBNP concentration, Wolff-Parkinso... |
OMIM:232300 |
| Osteogenesis Imperfecta |
|
Reduced bone mineral density, Abnormal form of the vertebral bodies, Corneal opacity, Decreased s... |
ORPHA:666 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Hypertension, Cardiomyopathy, Corneal opacity, Dermatan sulfate excretion in urine, Retinopathy, ... |
ORPHA:217093 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Bradycardia, In... |
OMIM:218700 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Gout, Hyperuricemia |
ORPHA:79233 |
| Chromosome 15Q25 Deletion Syndrome |
|
Congenital diaphragmatic hernia, Dextrocardia, Macrocytic anemia, Inguinal hernia, Hyperactivity,... |
OMIM:614294 |
| Weiss-Kruszka Syndrome |
|
Hypoplasia of the corpus callosum, Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum |
OMIM:618619 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Urinary incontinence, Hyperactivity, Ataxia, Dysphagia, Motor tics, Acanthocytosis, Optic atrophy... |
OMIM:234200 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Increased bone mineral density, Thin bony cortex, Osteopenia |
ORPHA:85184 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly |
OMIM:620367 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Rickets, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis ... |
OMIM:211600 |
| Diamond-Blackfan Anemia 1 |
|
Hypoplastic coccygeal vertebrae, Macrocytic anemia, Primary congenital glaucoma, Hypoplastic sacr... |
OMIM:105650 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Fatigable weakness of respiratory muscles, Hyperlordosis, Cognitive impairment, Dysphagia, Heart ... |
ORPHA:365 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Glycosuria, Hypophosphatemia, Hypoglycemia, Diabetes mellitus |
OMIM:616026 |
| Cardiomyopathy, Dilated, 1A |
|
Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc... |
OMIM:115200 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Hypertension, Cardiomyopathy, Corneal opacity, Dermatan sulfate excretion in urine, Retinopathy, ... |
ORPHA:217085 |
| Autoimmune Hepatitis |
|
Cirrhosis, Jaundice, Gastrointestinal hemorrhage, Sclerosing cholangitis, Acute hepatitis, Spider... |
ORPHA:2137 |
| Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
| Danon Disease |
|
Congestive heart failure, Wolff-Parkinson-White syndrome, Syncope, Atrial arrhythmia, Elevated ci... |
OMIM:300257 |
| Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Increased bone mineral density, Ectopic ossifica... |
ORPHA:79444 |
| Alström Syndrome |
|
Hypertriglyceridemia, Urinary incontinence, Precocious puberty in females, Primary hypothyroidism... |
ORPHA:64 |
| Atypical Werner Syndrome |
|
Hypertriglyceridemia, Lipoatrophy, Delayed puberty, Reduced bone mineral density, Hypertension, A... |
ORPHA:79474 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai... |
ORPHA:276 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Elevated hemoglobin A1c, Diabetic ketoacidosis, Type I diabetes mellitus, Small fo... |
OMIM:618858 |
| Bilateral Generalized Polymicrogyria |
|
Microcephaly, Diffuse white matter abnormalities, Lateral ventricle dilatation, Hypoplasia of the... |
ORPHA:208447 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Lateral ventricle dilatation |
OMIM:618330 |
| Transcobalamin Ii Deficiency |
|
Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, Ataxia, Letharg... |
OMIM:275350 |
| Malan Overgrowth Syndrome |
|
Hypoplasia of the corpus callosum, Ventriculomegaly, Episodic ataxia, Lateral ventricle dilatation |
ORPHA:420179 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Pulmonic stenosis, Leukopenia, Splenomegaly, Lymphopenia, Neutropenia, Inguinal hernia, Pulmonary... |
OMIM:612541 |
| Brain-Lung-Thyroid Syndrome |
|
Hyperactivity, Ataxia, Abnormal eating behavior, Abnormal cardiac septum morphology, Hypospadias,... |
ORPHA:209905 |
| Slc35A2-Cdg |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Inability to walk, Dandy-Walker malformation... |
ORPHA:356961 |
| Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Amelogenesis imperfecta, Hepatomegaly, Lymphadenopathy, Recurrent ur... |
OMIM:612783 |
| Lysosomal Acid Lipase Deficiency |
|
Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hyponatremia, Hypercholesterolemia |
ORPHA:275761 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Hypoplasia of the corpus callosum, Normal pressure hydrocephalus, Inability to walk, Agenesis of ... |
ORPHA:300570 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... |
ORPHA:77293 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Hepatosplenomegaly, Cherry red spot of the macula, Mitral valve pro... |
ORPHA:309155 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pheochromocytoma, Hypertension, Increased body weight, Impaired glucose tolerance, Adrenal hyperp... |
ORPHA:99889 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Anemia, Akinesia, Decreased body weight, Ascites, Hepatosplenomegaly, Splenomegaly,... |
OMIM:608013 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Elevated hemoglobin A1c, ... |
OMIM:616329 |
| Hyperparathyroidism, Neonatal Severe |
|
Polydipsia, Polyuria, Calcinosis, Hepatomegaly, Anemia, Elevated circulating parathyroid hormone ... |
OMIM:239200 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Small for ge... |
OMIM:606176 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Osteopetrosis, Hepatomegaly, Anemia, Pancytopenia, Hypocalcemia, Elevated circulating creatine ki... |
ORPHA:2785 |
| Ovalocytosis, Southeast Asian |
|
Elliptocytosis, Hemolytic anemia |
OMIM:166900 |
| Caroli Disease |
|
Anorexia, Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegal... |
ORPHA:53035 |
| Dyskeratosis Congenita |
|
Abnormality of neutrophils, Neoplasm of the pancreas, Cirrhosis, Hepatomegaly, Anemia, Scoliosis,... |
ORPHA:1775 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Osteopetrosis, Hepatomegaly, Anemia, Reduced bone mineral density, Hypocalcemia, Splenomegaly, Hy... |
ORPHA:667 |
| Otopalatodigital Syndrome Type 2 |
|
Tarsal synostosis, Increased bone mineral density, Abnormal heart valve morphology, Synostosis of... |
ORPHA:90652 |
| Tafro Syndrome |
|
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Mye... |
ORPHA:457077 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart morphology, ... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart morphology, ... |
ORPHA:353277 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Thin corpus callosum, Reduced cerebral white matter volume, Hyposegmentation of neutrophil nuclei... |
OMIM:620075 |
| 12Q14 Microdeletion Syndrome |
|
Failure to thrive, Abnormality of the spleen, Osteopoikilosis |
ORPHA:94063 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyperammonemia, Hyponatremia, Elevated circulating creatine kinase concentration |
OMIM:610505 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Patchy osteosclerosis |
OMIM:241410 |
| Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Dysplastic corpus callosum, Simplified gyral pattern, Microcephaly |
OMIM:620001 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
| Alkaptonuria |
|
Reduced bone mineral density, Intervertebral disk calcification, Hypertension, Aortic valve steno... |
ORPHA:56 |
| Q Fever |
|
Myocarditis, Anorexia, Hepatomegaly, Hematuria, Anemia, Lymphadenopathy, Abnormal left ventricula... |
ORPHA:781 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Atrial septal defect, Overweight, Ventricular septal defect, Persistence of hemoglobin F |
OMIM:619769 |
| Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy, Angina pectoris, Corneal ... |
ORPHA:79292 |
| Eisenmenger Syndrome |
|
Abnormal circulating B-type natriuretic peptide concentration, Atrioventricular canal defect, Hyp... |
ORPHA:97214 |
| Dysosteosclerosis |
|
Osteopenia, Clavicular sclerosis, Sclerosis of hand bone, Sclerosis of skull base, Sclerotic scap... |
OMIM:224300 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Bradykinesia, Premature ovarian insufficiency, Depression, Resting tremor, Secondary amenorrhea, ... |
OMIM:157640 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hypoplasia of the corpus callosum, Polymicrogyria, Dilated fourth ventricle, Microcephaly, Latera... |
OMIM:617751 |
| Kikuchi-Fujimoto Disease |
|
Myocarditis, Anorexia, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive pro... |
ORPHA:50918 |
| Endocrine-Cerebroosteodysplasia |
|
Enlarged kidney, Hypospadias, Adrenal hypoplasia, Microphallus, Hyperechogenic kidneys, Small scr... |
OMIM:612651 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Hypoplasia of the corpus callosum, Secondary microcephaly, Cerebral white matter atrophy, Agyria,... |
ORPHA:2148 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hypertriglyceridemia, Anemia, Hemophagocytosis, Panniculitis, Pancytopenia, Splenomegaly, Increas... |
OMIM:618398 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Conj... |
OMIM:194380 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Irritability, Inability to walk, Optic nerve hypoplasia, Short attention span, Exaggerated startl... |
OMIM:617864 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Microcephaly |
OMIM:618010 |
| Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
| Argininemia |
|
Anorexia, Irritability, Spastic gait, Hepatomegaly, Oroticaciduria, Portal fibrosis, Reduced eryt... |
OMIM:207800 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Hypospadias, Scrotal hypospadias, Bifid scrotum, Male pseudohermaphroditism, Decreased circulatin... |
OMIM:250790 |
| Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen c... |
OMIM:613027 |
| Adams-Oliver Syndrome 2 |
|
Cerebral atrophy, Hydrocephalus, Polymicrogyria, Microcephaly, Lateral ventricle dilatation |
OMIM:614219 |
| Acute Liver Failure |
|
Gastrointestinal hemorrhage, Hyperammonemia, Hepatic necrosis, Ataxia, Adrenal insufficiency, Acu... |
ORPHA:90062 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Diaphyseal cortical sclerosis, Osteopenia, Fractures of the long bones, Patchy osteosclerosis, Os... |
OMIM:112250 |
| Raine Syndrome |
|
Increased bone mineral density, Subperiosteal bone formation, Hypophosphatemia, Arthrogryposis mu... |
OMIM:259775 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... |
ORPHA:35858 |
| Familial Mediterranean Fever |
|
Pancreatitis, Lymphadenopathy, Depression, Vasculitis, Ascites, Leukocytosis, Nephrotic syndrome,... |
ORPHA:342 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Nonspherocy... |
OMIM:235700 |
| 46,Xy Sex Reversal 4 |
|
Increased blood urea nitrogen, Distal symphalangism, Elevated circulating creatinine concentration |
OMIM:154230 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly, Simplified gyral pat... |
OMIM:619179 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Panniculitis, Conjunctivitis, Failur... |
OMIM:617591 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Subependymal cysts, Multifocal cerebral white matter abnormalities, Lateral ventricle dilatation |
OMIM:600721 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Delayed puberty, Cachexia, Spontaneous, recurrent epistaxis, Corneal opacity, Splenomegaly, Pancy... |
ORPHA:2072 |
| Long Qt Syndrome 9 |
|
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... |
OMIM:611818 |
| Congenital Megacalycosis |
|
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... |
ORPHA:93109 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly |
OMIM:224100 |
| 16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Dilated cardiomyopathy, Ventricular septal defect, Thrombocyto... |
ORPHA:261250 |
| Dysostosis, Stanescu Type |
|
Increased bone mineral density, Massively thickened long bone cortices |
ORPHA:1798 |
| Complete Atrioventricular Septal Defect |
|
Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car... |
ORPHA:1329 |
| Fanconi Anemia, Complementation Group I |
|
Microcephaly, Colpocephaly, Agenesis of corpus callosum, Absent septum pellucidum, Neutropenia |
OMIM:609053 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Optic atrophy, Irritability, Exaggerated startle response, Failure to thrive, Joint contracture, ... |
OMIM:616881 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Impulsivity, Tricuspid regurgitation, Sinus bradycardia, Mitral regurgitation, Aggressive behavior |
OMIM:261990 |
| Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog... |
ORPHA:100026 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Oroticaciduria, Pancreatitis, Hemophagocytosis, Anemia, Pulmonary hemorrhage, Intra... |
OMIM:222700 |
| Japanese Encephalitis |
|
Hyponatremia |
ORPHA:79139 |
| Hypouricemia, Renal, 1 |
|
Hypouricemia, Elevated circulating creatinine concentration |
OMIM:220150 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Steppage gait, Abnormal pyramidal tract morphology, Lateral ventricle dilatation |
OMIM:256850 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Thin corpus callosum, Cerebral calcification, Corpus callosum atrophy, Microcephaly, Colpocephaly... |
OMIM:620371 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hypospadias, Concentric hypertrophic cardiomyopathy, Hyperalaninemia, Optic neuropa... |
OMIM:252010 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Hypoplasia of the corpus callosum, Inability to walk, Focal T2 hyperintense basal ganglia lesion,... |
ORPHA:2822 |
| Neutral Lipid Storage Disease With Myopathy |
|
Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Difficulty walking, Cardiomyopathy, Ele... |
OMIM:610717 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hyperbilirubinemia, Elevated circulating creatinine concentration |
ORPHA:542323 |
| Short Qt Syndrome 2 |
|
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... |
OMIM:609621 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Corneal opacity, Kyphosis, Aortic valve stenosis, Breast hypoplasia, Astigmatism, ... |
ORPHA:464306 |
| X-Linked Hypophosphatemia |
|
Rickets, Reduced bone mineral density, Vertebral hyperostosis, Arthritis, Limitation of joint mob... |
ORPHA:89936 |
| Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
| Digeorge Syndrome |
|
Ovarian cyst, Splenomegaly, Abnormal thymus morphology, Umbilical hernia, Hepatic steatosis, Ingu... |
OMIM:188400 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Bradykinesia, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Agenesis of corpus c... |
OMIM:614924 |
| Leptospirosis |
|
Pericarditis, Hepatomegaly, Thrombocytopenia, Hyperproteinemia |
ORPHA:509 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Perisylvian polymicrogyria, Lateral... |
OMIM:618291 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, ... |
OMIM:610582 |
| Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density |
ORPHA:3352 |
| Developmental And Epileptic Encephalopathy 49 |
|
Dysplastic corpus callosum, Hydrocephalus, Cerebral calcification, Dandy-Walker malformation, Mic... |
OMIM:617281 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Atrial septal defect, Tricuspid atresia, Truncus arteriosus, Tetralogy of Fallot, Partial anomalo... |
OMIM:617478 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hyperkalemia, Jaundice, Hepatomegaly, Inability to walk, Ataxia, Splenomegaly, Conjugated hyperbi... |
OMIM:608885 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Optic atrophy, Difficulty walking, Hyperalaninemia, Exaggerated startle response, Gait ataxia, At... |
OMIM:620451 |
| Syndromic Diarrhea |
|
Abnormal heart morphology, Splenomegaly, Lymphopenia, Bicuspid aortic valve, Aortic regurgitation... |
ORPHA:84064 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:201810 |
| Craniometaphyseal Dysplasia |
|
Osteopetrosis, Craniofacial hyperostosis |
ORPHA:1522 |
| Tuberous Sclerosis Complex |
|
Cardiac rhabdomyoma, Hyperactivity, Pheochromocytoma, Hypertension, Impulsivity, Pituitary adenom... |
ORPHA:805 |
| Progressive Familial Heart Block, Type Ii |
|
Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc... |
OMIM:140400 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microcephaly, Thin corpus callosum, Lateral ventricle dilatation, Hypoplasia of the corpus callosum |
OMIM:614105 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Nephrocal... |
OMIM:616084 |
| Simpson-Golabi-Behmel Syndrome |
|
Congenital diaphragmatic hernia, Ureteral duplication, Prolonged QT interval, Hypoplasia of penis... |
ORPHA:373 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic atrophy, Inability to walk, Scoliosis, Kyphosis, Exaggerated startle response, Flexion cont... |
OMIM:609541 |
| Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
| Agammaglobulinemia, X-Linked |
|
Prostatitis, Anemia, B lymphocytopenia, Recurrent urinary tract infections, Hepatocellular carcin... |
OMIM:300755 |
| Long Qt Syndrome 5 |
|
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... |
OMIM:613695 |
| Long Qt Syndrome 8 |
|
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... |
OMIM:618447 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hypocalcemia, Hyponatremia, Hyperkalemia, Diabetes mellitus |
ORPHA:544482 |
| Porphyria, Congenital Erythropoietic |
|
Osteopenia, Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Vertebral compression fracture, Co... |
OMIM:263700 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... |
OMIM:301078 |
| Spondyloenchondrodysplasia |
|
Autoimmune hemolytic anemia, Abnormal lateral ventricle morphology, Pancytopenia, Cerebral calcif... |
ORPHA:1855 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,... |
OMIM:620565 |
| X-Linked Intellectual Disability, Wilson Type |
|
Microcephaly, Lateral ventricle dilatation |
ORPHA:85290 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Polycystic kidney dysplasia, Scoliosis, Renal dysplasia, Ambiguous genitalia, Mi... |
OMIM:613091 |
| Idiopathic Aplastic Anemia |
|
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia |
ORPHA:88 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Periostitis, Osteopenia, Hepatomegaly, Fused cervical vertebrae, Elevated circulating C-reactive ... |
OMIM:612852 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Urinary incontinence, Astigmatism, Difficulty walking, Scoliosis, Kyphosis, Inef... |
OMIM:619482 |
| Immunodeficiency 96 |
|
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells |
OMIM:619774 |
| Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Small vessel vasculitis, Cholestasis, Increased T cell count, Splenomegaly, Cardiomegaly, Jaundic... |
OMIM:620376 |
| Sick Sinus Syndrome 4 |
|
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... |
OMIM:619464 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Patent foramen ovale, Tremor, Exaggerated startle response, Hydronephrosis, Limb joint contractur... |
OMIM:620327 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia |
OMIM:618252 |
| Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... |
OMIM:612240 |
| Acute Intermittent Porphyria |
|
Hyponatremia |
ORPHA:79276 |
| Niemann-Pick Disease, Type C1 |
|
Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Gait ataxia, Prolonged neonatal jau... |
OMIM:257220 |
| Mucolipidosis Type Ii |
|
Cardiomyopathy, Kyphosis, Cognitive impairment, Abnormal mitral valve morphology, Splenomegaly, U... |
ORPHA:576 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Vasculitis, Abnormal sacr... |
ORPHA:32960 |
| Immunodeficiency 47 |
|
Normocytic anemia, Cirrhosis, Hepatomegaly, Decreased circulating copper concentration, Accessory... |
OMIM:300972 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Optic atrophy, Exaggerated startle response, Kyphosis, Cognitive impairment, Congenital hypothyro... |
OMIM:617527 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death |
OMIM:600919 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Attention deficit hyperactivity disorder, Exaggerated startle response |
OMIM:617028 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Infertility, Cognitive impairment, Ataxia, Testicular atrophy |
OMIM:613909 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Cholangitis, Hypertyrosinemia, Periportal fibrosis, Microvesicular hepatic steatosis, Depression,... |
OMIM:124000 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Unilateral renal agenesis, Azoospermia, Decreased circulating follicle stimulating hormone concen... |
OMIM:308700 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Progressive cerebellar ataxia, Azoospermia, Cognitive impairment, Testicular at... |
ORPHA:276183 |
| Sanjad-Sakati Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Patchy osteosclerosis |
ORPHA:2323 |
| Carney Triad |
|
Anorexia, Gastrointestinal hemorrhage, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Adre... |
ORPHA:139411 |
| Halperin-Birk Syndrome |
|
Ventriculomegaly, Colpocephaly, Inability to walk, Agenesis of corpus callosum |
OMIM:618651 |
| Niemann-Pick Disease, Type C2 |
|
Jaundice, Sea-blue histiocytosis, Hepatomegaly, Dementia, Bone-marrow foam cells, Prolonged neona... |
OMIM:607625 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Cirrhosis, Intrahepatic cholestasis, Jaundice, Hepatomegaly, Steatorrhea, Acholic stools, Hyperbi... |
OMIM:613812 |
| Thymoma |
|
Aplastic anemia, Rheumatoid arthritis, Pure red cell aplasia, Weight loss, Imbalanced hemoglobin ... |
ORPHA:99867 |
| Sick Sinus Syndrome 1 |
|
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... |
OMIM:608567 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Abnormal emotion, Difficulty walking, Anemia, Nail-biting, Corneal ulceration, Abnormal lumbar sp... |
ORPHA:642 |
| Hereditary Elliptocytosis |
|
Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Prolonged neonatal... |
ORPHA:288 |
| Bone Marrow Failure Syndrome 5 |
|
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Hypogonadism, Testicular atrophy |
OMIM:618165 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hypokalemia, Hyponatremia, Hypophosphatemia, Hyperaldosteronism, Hypercholesterolemia, Hypoammonemia |
ORPHA:534 |
| Sarcoidosis |
|
Increased T cell count, Nephrocalcinosis, Leukopenia, Abnormal reproductive system morphology, Ab... |
ORPHA:797 |
| Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Thyroid c... |
ORPHA:3261 |
| Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay... |
ORPHA:52901 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Hypoplasia of the corpus callosum, Secondary microcephaly, Colpocephaly, Agenesis of corpus callo... |
OMIM:620113 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Difficulty walking, Scoliosis, Exaggerated startle response, Multiple joint contra... |
ORPHA:320406 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia |
OMIM:618426 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Dandy-Walker malformation, Microcephaly, Lateral ventricle dilatation |
ORPHA:3078 |
| Oculoskeletodental Syndrome |
|
Dysplastic corpus callosum, Focal white matter lesions |
ORPHA:557003 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dysplastic corpus callosum, Dilated third ventricle, Lateral ventricle dilatation, Hyperintensity... |
ORPHA:544488 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Hydrocephalus, Dandy-Walker malformation, Type II lissencephaly, Dilated third ventricle, Lateral... |
OMIM:613154 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Cranial hyperostosis, Osteopetrosis, Abnormal cortical bone morphology, Increased bone mineral de... |
ORPHA:2658 |
| Cerebrofacioarticular Syndrome |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly, Ataxia, Agenesis of ... |
ORPHA:314679 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Unilateral renal agenesis, Decreased circulating follicle stimulating hormone concentration, Decr... |
OMIM:308750 |
| Spherocytosis, Type 1 |
|
Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol... |
OMIM:182900 |
| Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Hyperoxaluria, Increased bone mineral density |
OMIM:259900 |
| Familial Mediterranean Fever |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Leukocytosis, Nephrotic synd... |
OMIM:249100 |
| Myhre Syndrome |
|
Platyspondyly, Enlarged vertebral pedicles, Hypertension, Ventricular septal defect, Camptodactyl... |
OMIM:139210 |
| Oligomeganephronia |
|
Elevated circulating creatinine concentration, Secundum atrial septal defect, Small for gestation... |
ORPHA:2260 |
| Primary Hyperoxaluria |
|
Hyperoxaluria, Cardiomyopathy, Failure to thrive, Generalized osteosclerosis, Recurrent fractures |
ORPHA:416 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:223900 |
| Hypogonadism, Male |
|
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias |
OMIM:241100 |
| Glutaric Acidemia I |
|
Hydrocephalus, Choreoathetosis, Lateral ventricle dilatation |
OMIM:231670 |
| Spherocytosis, Type 2 |
|
Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol... |
OMIM:616649 |
| Cog5-Cdg |
|
Truncal ataxia, Cerebral white matter atrophy, Microcephaly, Diffuse cerebral atrophy, Hepatosple... |
ORPHA:263487 |
| Asparagine Synthetase Deficiency |
|
Irritability, Hypoasparaginemia, Optic nerve hypoplasia, Tremor, Exaggerated startle response, Fa... |
OMIM:615574 |
| Spherocytosis, Type 4 |
|
Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia |
OMIM:612653 |
| Hyperthyroidism, Nonautoimmune |
|
Increased circulating T4 concentration, Increased circulating free T3, Decreased thyroid-stimulat... |
OMIM:609152 |
| Cryohydrocytosis |
|
Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia |
OMIM:185020 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Hypoplasia of the corpus callosum, Microcephaly, Colpocephaly, Agenesis of corpus callosum, Ventr... |
OMIM:617260 |
| Papillorenal Syndrome |
|
Joint hypermobility, Elevated circulating creatinine concentration |
OMIM:120330 |
| Kapur-Toriello Syndrome |
|
Dysplastic corpus callosum, Polymicrogyria, Pachygyria |
ORPHA:2328 |
| Blau Syndrome |
|
Large vessel vasculitis, Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Hypertensio... |
ORPHA:90340 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Cavum septum pellucidum, Abnormal corpus callosum morphology, Unsteady gait, Ataxia, Abnormal cer... |
ORPHA:457279 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Cerebral cortical atrophy, Neurofibrillary tangles, Lateral ventricle dilatation, Lewy bodies |
OMIM:607485 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Dysplastic corpus callosum, Focal polymicrogyria, Partial agenesis of the corpus callosum, Microc... |
OMIM:619103 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Cerebral atrophy, Giant platelets, Anemia, Progressive microcephaly, Microcephaly, Thrombocytopen... |
OMIM:611209 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Optic atrophy, Exaggerated startle response, Kyphosis, Failure to thrive, Impaired oropharyngeal ... |
ORPHA:521426 |
| Multicystic Dysplastic Kidney |
|
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... |
ORPHA:1851 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Dandy-Walker malformation, Abnormal basal ganglia morphology, Open operculum, Dilated third ventr... |
ORPHA:397715 |
| Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Depression, Inability to walk, Exaggerated startle response |
OMIM:620114 |
| Glycogen Storage Disease Ic |
|
Delayed puberty, Xanthelasma, Hepatomegaly, Hematuria, Decreased glomerular filtration rate, Chro... |
OMIM:232240 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy, Congenital diaphragmatic hernia, Decreased skull ossification, Omphalocele |
OMIM:601163 |
| Tay-Sachs Disease |
|
Aspiration, Exaggerated startle response, Cherry red spot of the macula, Dementia, Psychomotor de... |
OMIM:272800 |
| Sarcoidosis, Susceptibility To, 1 |
|
Anorexia, Enlarged lacrimal glands, Hepatomegaly, Mediastinal lymphadenopathy, Abnormal salivary ... |
OMIM:181000 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Cirrhosis, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Testicular atrophy |
OMIM:613987 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Agitation, Truncal titubation, Tremor, Exaggerated startle response, Gait ataxia, Dysmetria |
OMIM:618056 |
| Hypomagnesemia 3, Renal |
|
Rickets, Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentration, ... |
OMIM:248250 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Difficulty walking, Inability to walk, Cavum... |
ORPHA:464738 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Optic atrophy, Elbow flexion contracture, Exaggerated startle response, Hip contracture, Flexion ... |
OMIM:617301 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia, Ventricular septal defect |
OMIM:126320 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Probst bundles, Lateral ventricle dilatation |
OMIM:612863 |
| Pmm2-Cdg |
|
Osteopenia, Reduced thyroxin-binding globulin, Hypertrophic cardiomyopathy, Osteoporosis, Pericar... |
ORPHA:79318 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Hypoplasia of the corpus callosum, Lateral ventricle dilatation |
OMIM:618914 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Periventricular leukomalacia, Choroid plexus cyst, Abnormal caudate nucleus morphology, Lateral v... |
ORPHA:293725 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Congenital diaphragmatic hernia, Pulmonary insufficiency, Scarring, Inguinal hernia, Bradycardia,... |
OMIM:614437 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Microcephaly, Cerebral atrophy, Primary microcephaly, Lateral ventricle dilatation |
OMIM:619847 |
| Generalized Arterial Calcification Of Infancy |
|
Hypertension, Ventricular hypertrophy, Ascites, Nephrocalcinosis, Pancreatic calcification, Abnor... |
ORPHA:51608 |
| Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Increased bone mineral density, Coarse metaphyseal trabecularization, Thickened cortex of long bo... |
OMIM:620558 |
| Hepatoerythropoietic Porphyria |
|
Osteopenia, Scarring, Red urine, Corneal ulceration, Purple urine, Scarring alopecia of scalp, Re... |
ORPHA:95159 |
| Hyperekplexia 3 |
|
Syncope, Exaggerated startle response, Hiatus hernia |
OMIM:614618 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia |
OMIM:309120 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Dysplastic corpus callosum |
OMIM:618810 |
| Meige Disease |
|
Atypical scarring of skin, Absence of lymph node germinal center, Cellulitis, Lymph node hypoplasia |
ORPHA:90186 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urinary incontinence, Dysphagia, Hypospadias, Pelvic kidney, Scoliosis, Exaggerated startle respo... |
OMIM:619522 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyperkalemia, Elevated serum 11-deoxycortisol, Decreased circulating renin level, Hyponatremia, D... |
OMIM:201750 |
| Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Synostosis of joints |
ORPHA:50945 |
| Parenteral Nutrition-Associated Cholestasis |
|
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Hyperlipidemia, Portal hypertension, Biliary h... |
ORPHA:567983 |
| X-Linked Intellectual Disability, Snyder Type |
|
Kyphoscoliosis, Ectopic kidney, Hypospadias, Inability to walk, Kyphosis, Osteoporosis, Abnormali... |
ORPHA:3063 |
| Khan-Khan-Katsanis Syndrome |
|
Anemia, Microcephaly, Colpocephaly, Lymphopenia, Ventriculomegaly, Neutropenia |
OMIM:618460 |
| Plague |
|
Hematemesis, Mydriasis, Anorexia, Hepatomegaly, Depression, Lymphadenitis, Hypotension, Conjuncti... |
ORPHA:707 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Broad-based gait, Short attention span, Exaggerated startle response, Dystonia, Ataxia |
ORPHA:438216 |
| Cardiogenic Shock |
|
Elevated circulating creatinine concentration, Hepatomegaly |
ORPHA:97292 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum, Ventriculomegaly |
ORPHA:363444 |
| Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... |
OMIM:119600 |
| Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration... |
OMIM:207750 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dysplastic corpus callosum, Microcephaly, Hypoplasia of the corpus callosum |
OMIM:618569 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Oculogyric crisis, Transient hyperphenylalaninemia, Hyperactivity, Depression, Hyperphenylalanine... |
OMIM:612716 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lateral ventricle dilatation |
OMIM:619995 |
| Gm2-Gangliosidosis, Ab Variant |
|
Aspiration, Dystonia, Exaggerated startle response, Dementia |
OMIM:272750 |
| Reynolds Syndrome |
|
Calcinosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Steatorrhea, Lip telangiectasia,... |
OMIM:613471 |
| Hyperlipoproteinemia, Type Id |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa... |
OMIM:615947 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Agenesis of corpus callosum, Lateral ventricle dilatation |
OMIM:300952 |
| 6Q Terminal Deletion Syndrome |
|
Hypoplasia of the corpus callosum, Polymicrogyria, Gait ataxia, Colpocephaly, Abnormal cerebral w... |
ORPHA:75857 |
| Johanson-Blizzard Syndrome |
|
Clitoral hypertrophy, Conjunctival icterus, Primary hypothyroidism, Ascites, Urethrovaginal fistu... |
OMIM:243800 |
| Developmental And Epileptic Encephalopathy 68 |
|
Failure to thrive, Flexion contracture, Exaggerated startle response |
OMIM:618201 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hydrocephalus, Microcephaly, Colpocephaly, Agenesis of corpus callosum, Absent septum pellucidum |
OMIM:309801 |
| Renal Cysts And Diabetes Syndrome |
|
Elevated circulating creatinine concentration, Gout, Hyperuricemia |
OMIM:137920 |
| Hyperekplexia 2 |
|
Astigmatism, Exaggerated startle response, Hiatus hernia |
OMIM:614619 |
| Hyperekplexia 1 |
|
Aspiration, Exaggerated startle response, Inguinal hernia, Umbilical hernia |
OMIM:149400 |
| Gabriele-De Vries Syndrome |
|
Tip-toe gait, Cortical dysplasia, Waddling gait, Lateral ventricle dilatation |
OMIM:617557 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hyperbilirubinemia, Hemoglobinuria, Hemolytic anemia, Reticulocytosis |
OMIM:266120 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Ataxia, Exaggerated startle response |
OMIM:618598 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Colpocephaly, Ataxia, Inability to walk, Microcephaly |
OMIM:620083 |
| Holt-Oram Syndrome |
|
Cervical C2/C3 vertebral fusion, Pulmonic stenosis, Mitral valve prolapse, Hypoplasia of right ve... |
OMIM:142900 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Splenopancreatic fusion, Failure to thrive, Thickened cortex of long bones, Sclerosis of skull ba... |
OMIM:269150 |
| Aicardi Syndrome |
|
Cavum septum pellucidum, Dandy-Walker malformation, Choroid plexus cyst, Polymicrogyria, Dilated ... |
OMIM:304050 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Dysplastic corpus callosum, Secondary microcephaly, Polymicrogyria, Colpocephaly, Agenesis of cor... |
OMIM:618820 |
| Pauci-Immune Glomerulonephritis |
|
Elevated circulating creatinine concentration |
ORPHA:93126 |
| Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis |
OMIM:130600 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Sclerosteosis 1 |
|
Cortically dense long tubular bones, Sclerotic scapulae, Facial palsy secondary to cranial hypero... |
OMIM:269500 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Dysplastic corpus callosum, Cerebral cortical atrophy, Microcephaly, Agenesis of corpus callosum,... |
OMIM:151050 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Neurocardiofaciodigital Syndrome |
|
Hypoplasia of the corpus callosum, Cavum septum pellucidum, Dilated fourth ventricle, Microcephal... |
OMIM:619869 |
| Holoprosencephaly 13, X-Linked |
|
Microcephaly, Septo-optic dysplasia, Colpocephaly, Agenesis of corpus callosum |
OMIM:301043 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hypoplasia of the corpus callosum, Abnormal cortical gyration, Hydrocephalus, Polymicrogyria, Mic... |
OMIM:210710 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Hypoplasia of the corpus callosum, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:619479 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Hypoplasia of the corpus callosum, Colpocephaly, Cerebral white matter hypoplasia |
ORPHA:477993 |
| Zttk Syndrome |
|
Dysplastic corpus callosum, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Abno... |
OMIM:617140 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Isch... |
ORPHA:500150 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Irritability, Dysphagia, Exaggerated startle response |
OMIM:618367 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dysplastic corpus callosum, Thick corpus callosum, Ataxia |
OMIM:300967 |
| White-Kernohan Syndrome |
|
Dysplastic corpus callosum |
OMIM:619426 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Dysplastic corpus callosum, Ataxia, Hypoplasia of the corpus callosum |
ORPHA:466791 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Hypoplasia of the corpus callosum |
OMIM:300896 |
| Genitopatellar Syndrome |
|
Thin corpus callosum, Microcephaly, Colpocephaly, Pachygyria, Agenesis of corpus callosum |
OMIM:606170 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Hypoplasia of the corpus callosum, Difficulty walking, Waddling gait, Abnormal periventricular wh... |
ORPHA:280763 |
| Witteveen-Kolk Syndrome |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Cortical dysplasia, Microcephaly, ... |
OMIM:613406 |
| Spastic Paraplegia 51, Autosomal Recessive |
|
Microcephaly, Ventriculomegaly, Cerebral cortical atrophy, Inability to walk |
OMIM:613744 |
| Stuttering, Familial Persistent, 1 |
|
|
OMIM:184450 |
