Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Abnormal large intestine morpholo... |
ORPHA:2198 |
Plasma Clot Retraction Factor, Deficiency Of |
|
Gastrointestinal hemorrhage, Bruising susceptibility, Poor wound healing |
OMIM:262800 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abdominal pain, Feeding diff... |
ORPHA:2924 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Abnormal bleeding, Mala... |
ORPHA:79301 |
Telangiectasia, Hereditary Hemorrhagic, Type 5 |
|
Elevated hepatic transaminase, Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia |
OMIM:615506 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Hypertension, Paraganglioma |
OMIM:618464 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Hypertrophic cardiomyopathy |
ORPHA:79281 |
Familial Hypofibrinogenemia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding |
ORPHA:101041 |
Familial Dysfibrinogenemia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding |
ORPHA:98881 |
Porokeratosis 2, Palmar, Plantar, And Disseminated Type |
|
Plantar telangiectasia, Palmar telangiectasia |
OMIM:175850 |
Non-Involuting Congenital Hemangioma |
|
Prominent superficial veins, Telangiectasia of the skin, Congestive heart failure, Hepatic hemang... |
ORPHA:141179 |
Factor Vii And Factor Viii, Combined Deficiency Of |
|
Intestinal bleeding |
OMIM:134430 |
Moyamoya Disease 1 |
|
Inflammatory arteriopathy, Telangiectasia |
OMIM:252350 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
Familial Cylindromatosis |
|
Telangiectasia of the skin |
ORPHA:211 |
Rapidly Involuting Congenital Hemangioma |
|
Prominent superficial veins, Telangiectasia of the skin, Congestive heart failure, Hepatic hemang... |
ORPHA:141184 |
Nephrosialidosis |
|
Pericardial effusion, Ascites, Bone-marrow foam cells |
OMIM:256150 |
Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extraction, Prolonged ble... |
ORPHA:326 |
Mastocytosis, Cutaneous |
|
Urticaria, Erythema, Telangiectasia macularis eruptiva perstans |
OMIM:154800 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... |
ORPHA:3002 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, ... |
ORPHA:131 |
Uv-Sensitive Syndrome 3 |
|
Cutaneous photosensitivity, Telangiectasia |
OMIM:614640 |
Capillary Malformation-Arteriovenous Malformation 2 |
|
Telangiectasia |
OMIM:618196 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Portal hypertension, Abdominal pa... |
ORPHA:1414 |
Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental extraction |
OMIM:137560 |
Familial Multiple Trichoepithelioma |
|
Telangiectasia of the skin |
ORPHA:867 |
Cerebral Cavernous Malformations 2 |
|
Cerebral hemorrhage, Telangiectasia |
OMIM:603284 |
Cutaneous Collagenous Vasculopathy |
|
Prominent superficial blood vessels, Erythema, Diffuse telangiectasia, Bruising susceptibility, V... |
ORPHA:280779 |
Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Anorexia, Right ventricular... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Anorexia, Right ventricular... |
ORPHA:100082 |
Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Anorexia, Right ventricular... |
ORPHA:100080 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble... |
OMIM:231200 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Epistaxis, Cerebral hemorrhage, A... |
ORPHA:99828 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abnorma... |
ORPHA:543 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:294 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after dental ... |
ORPHA:328 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Portal hypertension, Retinal telangiectasia, Esophageal varix, Prema... |
OMIM:617341 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding |
OMIM:600195 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Moyamoya Disease |
|
Telangiectasia |
ORPHA:2573 |
Telangiectasia, Hereditary Benign |
|
Diffuse telangiectasia |
OMIM:187260 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypertension, Diabetes mellitus, Myocardial infarction |
OMIM:608320 |
Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Intracranial hemorrhag... |
ORPHA:98878 |
Familial Aortic Dissection |
|
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular ... |
ORPHA:229 |
Angioma, Hereditary Neurocutaneous |
|
Gastrointestinal hemorrhage |
OMIM:106070 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Abnormality of the spleen, Diarrhea, M... |
ORPHA:79456 |
Congenital Heart Block |
|
Pericardial effusion, Patent ductus arteriosus, Hydrops fetalis, Peripheral edema, Endocardial fi... |
ORPHA:60041 |
Uv-Sensitive Syndrome 1 |
|
Cutaneous photosensitivity, Telangiectasia |
OMIM:600630 |
Intracranial Hypertension, Idiopathic |
|
Hypertension, Papilledema |
OMIM:243200 |
Rombo Syndrome |
|
Facial telangiectasia |
OMIM:180730 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Diarrhea, Elevated c... |
OMIM:605911 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Microcytic anemia, Venous insuffic... |
ORPHA:90308 |
Capillary Malformation-Arteriovenous Malformation 1 |
|
Arteriovenous fistula, Arteriovenous malformation |
OMIM:608354 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Abnormal bleeding, Portal hypertensio... |
ORPHA:64743 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Abdominal pain, Congestive heart failu... |
OMIM:235200 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Abdominal pain, Peritonitis, V... |
ORPHA:343 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... |
OMIM:619874 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:613424 |
Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Prolonged bleeding time, Prolonged... |
ORPHA:849 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Hydrocephalus |
OMIM:166990 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Pulmonary embolism, Retinal telangiectasia, Cholecystitis, Intestina... |
ORPHA:774 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Cutis marmorata, Abdominal pain, Sple... |
ORPHA:91138 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... |
OMIM:613679 |
Arterial Dissection-Lentiginosis Syndrome |
|
Arterial dissection, Arteriovenous malformation |
ORPHA:1682 |
Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology, Short stature |
ORPHA:1705 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Diarrhea, Hepatic fibrosis, Decre... |
ORPHA:79319 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... |
OMIM:273800 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Retinal telangiectasia |
OMIM:267900 |
Obesity Due To Sim1 Deficiency |
|
Postural hypotension with compensatory tachycardia, Hyperinsulinemia, Abnormal autonomic nervous ... |
ORPHA:369873 |
Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Abdominal pain, Angioedema, Erythema, Diarrhea, Darier's sign, Telang... |
ORPHA:79455 |
Vein Of Galen Aneurysmal Malformation |
|
Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology |
ORPHA:1053 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Overriding aorta, Microcephaly, Abnormal aortic arch morphology, Arteriovenous malformation, Intr... |
ORPHA:1110 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Pleural effusion, Intrauterine growth retardation, Hypertroph... |
OMIM:614702 |
Typhoid |
|
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cardiac arrest, Abdominal pain, Splenomegal... |
ORPHA:99745 |
Preeclampsia/Eclampsia 1 |
|
Elevated hepatic transaminase, Hypertension |
OMIM:189800 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Subarachnoid hemorrhage, Cephalohematoma, Intracr... |
ORPHA:853 |
Neuroendocrine Tumor Of Stomach |
|
Anorexia, Poor appetite, Lack of bowel sounds, Bloody diarrhea, Zollinger-Ellison syndrome, Hepat... |
ORPHA:100075 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomyopathy |
OMIM:609016 |
Transaldolase Deficiency |
|
Premature skin wrinkling, Telangiectasia, Cirrhosis, Hepatosplenomegaly |
ORPHA:101028 |
Leber Hereditary Optic Neuropathy, Autosomal Recessive 1 |
|
Retinal telangiectasia |
OMIM:619382 |
Cerebral Arteriovenous Malformation |
|
Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology |
ORPHA:46724 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... |
ORPHA:729 |
Limited Cutaneous Systemic Sclerosis |
|
Nausea and vomiting, Telangiectasia of the skin, Gastroesophageal reflux, Dysphagia, Pulmonary ar... |
ORPHA:220402 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Patent ductus arteriosus, ... |
OMIM:239850 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
Congenital Factor Xi Deficiency |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong... |
ORPHA:329 |
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Hypertension, Cutis marmorata, Telangiectases producing 'marbled' skin |
OMIM:206570 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Raynaud phenomenon, Micronodular cirr... |
OMIM:192315 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Telangiectasia of the skin, Telangiectasia |
ORPHA:79279 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Capillary Malformation-Arteriovenous Malformation |
|
Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformation, Abnormality of ... |
ORPHA:137667 |
Reynolds Syndrome |
|
Hepatomegaly, Telangiectasia of the skin, Abnormal gastric mucosa morphology, Jaundice, Xerostomi... |
ORPHA:779 |
Pure Autonomic Failure |
|
Abnormality of circulating catecholamine level, Syncope, Abnormal autonomic nervous system physio... |
ORPHA:441 |
Parkes Weber Syndrome |
|
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... |
ORPHA:90307 |
Blue Rubber Bleb Nevus |
|
Intestinal bleeding, Arteriovenous malformation, Microcytic anemia |
ORPHA:1059 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 3 |
|
Gastrointestinal hemorrhage, Feeding difficulties |
OMIM:620368 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta |
OMIM:601612 |
Pulmonary Arteriovenous Malformation |
|
Abnormal bleeding, Liver abscess, Transient ischemic attack, Epistaxis, Myocardial infarction, Cy... |
ORPHA:2038 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cutaneous photosensitivity, Telangiectasia of the skin, Retinal telangiectasia |
ORPHA:438134 |
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency |
|
Ventriculomegaly, Abnormal neuron morphology |
ORPHA:329228 |
Wyburn-Mason Syndrome |
|
Peripheral arteriovenous fistula, Epistaxis, Cerebral hemorrhage, Abnormal cerebral vascular morp... |
ORPHA:53719 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Sudden cardiac death, Hypertension, Type II diabetes mellitus, Myocardial infarction |
OMIM:610947 |
Hydroa Vacciniforme |
|
Erythema, Hydroa vacciniforme, Telangiectasia of the skin, Cutaneous photosensitivity |
ORPHA:330058 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:600376 |
Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar... |
ORPHA:624 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Poor wound healing, Prolonged bleedi... |
ORPHA:465 |
Carcinoid Syndrome |
|
Elevated hepatic transaminase, Nausea and vomiting, Tricuspid regurgitation, Right ventricular fa... |
ORPHA:100093 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea... |
ORPHA:2137 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... |
OMIM:132900 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver, Subcutaneous hemorrhage |
ORPHA:1980 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extraction, Prolonged ble... |
ORPHA:35909 |
Tricuspid Atresia |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri... |
ORPHA:1209 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Constrictive pericarditis, Gastrointestinal infarctions |
OMIM:602248 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Tachycardia, Abdominal pain, Splenomegaly, Jaundice, Diarrhea, Hypertension, Vomiti... |
OMIM:121300 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Pulmonary insufficiency, Tricuspid regurgitation, Ascites, Pulmonic stenosis, Restr... |
OMIM:619433 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix |
OMIM:617068 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after dental ... |
OMIM:193400 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension |
OMIM:605572 |
Craniofaciofrontodigital Syndrome |
|
Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve... |
ORPHA:363705 |
Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Poor wound healing, Prolonged bleedi... |
ORPHA:169802 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Venous insufficiency, Congestive heart failure, Arteriovenous malformation |
ORPHA:137608 |
Adams-Oliver Syndrome |
|
Encephalocele, Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertens... |
ORPHA:974 |
Spinal Arteriovenous Metameric Syndrome |
|
Congestive heart failure, Spinal arteriovenous malformation, Arteriovenous malformation |
ORPHA:53721 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Episodic abdominal pain, Hamartom... |
ORPHA:251992 |
Hemophilia B |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Joint hemorrhage, Persistent bleeding after trauma |
OMIM:306900 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... |
OMIM:619463 |
Moderate Hemophilia A |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Prolonged bleeding after den... |
ORPHA:169805 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:187300 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:612158 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Pulmonary edema, Transient ischemic attack, Cardiomegaly, ... |
OMIM:115197 |
Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... |
ORPHA:732 |
Peutz-Jeghers Syndrome |
|
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Pancreatic adenocarcinoma... |
ORPHA:2869 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Abnormal coronary artery morphology, Ventr... |
ORPHA:860 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Abdominal pa... |
ORPHA:2494 |
Angiokeratoma Corporis Diffusum With Arteriovenous Fistulas |
|
Arteriovenous fistula |
OMIM:600419 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Chylopericardium, Growth delay, Pulmonic stenosis, P... |
ORPHA:2414 |
Afibrinogenemia, Congenital |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture, Subdural hemorrh... |
OMIM:202400 |
Aorta Coarctation |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Cerebral ischemia, Budd-Chiari sy... |
OMIM:263300 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the stomach... |
ORPHA:44890 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertension, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Facial palsy, Hypertension, Hypogonadism, Abnormal autonomic nervous system ph... |
ORPHA:97229 |
Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Abnormal in... |
ORPHA:85446 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... |
ORPHA:1041 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
Systemic Primary Carnitine Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Vomiting |
ORPHA:158 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... |
ORPHA:99147 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Vomiting, Hepatic st... |
OMIM:614480 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Chronic diarrhea, Chronic constipation... |
OMIM:142680 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
Lacunar stroke, Hypertension, Transient ischemic attack |
OMIM:616779 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Anorexia, Hypersplenism, Abdominal pain, Malabs... |
ORPHA:98850 |
Episodic Pain Syndrome, Familial, 3 |
|
Abnormal autonomic nervous system physiology |
OMIM:615552 |
Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Abnormal bleeding, Hematemesis, Pr... |
ORPHA:274 |
Dural Sinus Malformation |
|
Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Subdural hemorrh... |
ORPHA:97339 |
Transaldolase Deficiency |
|
Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly, Telangiectasia, Hepatic f... |
OMIM:606003 |
Morbid Obesity And Spermatogenic Failure |
|
Congestive heart failure, Hypertension, Type II diabetes mellitus, Myocardial infarction |
OMIM:615703 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Short stature, Polyhydramnios, Pericardial effusion, Multiple muscular ventricular septal defects... |
OMIM:620070 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, S... |
ORPHA:422 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Telangiectases of the cheeks, Livedo |
OMIM:615139 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Intes... |
ORPHA:464321 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy... |
OMIM:601493 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Telangiectasia of the skin, Arrhythmia, Cerebral ischemia, Arteriovenous malformation |
ORPHA:60040 |
Polycystic Kidney Disease 7 |
|
Hypertension |
OMIM:620056 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ano... |
ORPHA:100085 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Preeclampsia |
|
Elevated hepatic transaminase, Elevated diastolic blood pressure, Hypertension, Elevated systolic... |
ORPHA:275555 |
Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Telangiectasia of the skin, Prematurely aged appearance, Premature... |
ORPHA:100 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Tricuspid regurgitation, Anorexia, Right ventricular failure, Poor appetite, Bowel ... |
ORPHA:97287 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomyopat... |
OMIM:613313 |
Phakomatosis Pigmentovascularis |
|
Cerebral calcification, Cerebral cortical atrophy, Arteriovenous malformation |
ORPHA:2875 |
Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:613642 |
Meckel Syndrome, Type 8 |
|
Pericardial effusion, Occipital encephalocele, Encephalocele, Enlarged kidney |
OMIM:613885 |
Hyperaldosteronism, Familial, Type Iv |
|
Hypertension, Hyperaldosteronism |
OMIM:617027 |
Tempi Syndrome |
|
Intracranial hemorrhage, Ascites, Facial erythema, Telangiectasia |
ORPHA:284227 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Edema, Pericardial effusion, Hepatosplenomegaly, Abnormal cardiac septum morphology... |
OMIM:608776 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Telangiectasia |
OMIM:608799 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Pericarditis, Cutis marmorata, Epistaxis, Abdom... |
ORPHA:727 |
Plin1-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Abnormal circulating hormone co... |
ORPHA:280356 |
Propionic Acidemia |
|
Hepatomegaly, Arrhythmia, Constipation, Cardiomyopathy |
ORPHA:35 |
Pelizaeus-Merzbacher Disease |
|
Cerebral cortical atrophy, Arteriovenous malformation, Short stature, Microcephaly |
ORPHA:702 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Elevated circulating alkaline phos... |
ORPHA:330001 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Hypertension |
ORPHA:2820 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the gastrointestinal tract, Dyspepsia, ... |
ORPHA:85450 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma |
ORPHA:882 |
Maternally-Inherited Diabetes And Deafness |
|
Congestive heart failure, Hypertension, Type II diabetes mellitus, Arrhythmia, Hypertrophic cardi... |
ORPHA:225 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hypertension, Diabetes mellitus, Hyperinsulinemia |
ORPHA:79084 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Acute pancreatitis, Poor appetite, Abdominal pain... |
ORPHA:319218 |
Leber Hereditary Optic Neuropathy |
|
Arrhythmia, Ventricular preexcitation, Retinal telangiectasia |
ORPHA:104 |
Ppoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo... |
ORPHA:97278 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Feeding difficulties in infancy, Hepatomegaly, Jaundice, Elevated circulating aspartate aminotran... |
OMIM:614876 |
Xeroderma Pigmentosum Variant |
|
Cutaneous photosensitivity, Telangiectasia |
ORPHA:90342 |
Galactose Epimerase Deficiency |
|
Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Feeding difficulties |
ORPHA:79238 |
Bleeding Disorder, Platelet-Type, 17 |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged ble... |
OMIM:187900 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Cutis marmorata, Epistaxis, Anorexia, Malabsorption, C... |
ORPHA:33226 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Left ventricular noncompaction |
OMIM:616501 |
Bleeding Disorder, Platelet-Type, 12 |
|
Epistaxis, Intestinal bleeding, Menorrhagia, Bruising susceptibility, Joint hemorrhage |
OMIM:605735 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Tachycardia, Chemodectoma, Adrenal pheochromocytoma, Glomus jugula... |
OMIM:605373 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Abnormal autonomic nervous system physiology, T... |
ORPHA:101016 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Nodular regenerative hyperplasia of liver, Raynaud phenomenon, Punct... |
ORPHA:247691 |
Congenital Heart Defects, Multiple Types, 9 |
|
Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Esophageal stricture, Erythema, Telangiectasia, Cutaneous photosensitivity, Fragile skin |
ORPHA:158673 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Telangiectasia of the skin, Elevated circulating ala... |
OMIM:615381 |
Orthostatic Intolerance |
|
Orthostatic tachycardia |
OMIM:604715 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Arrhythmia, Abnormal autonomic nervous system physiology, Atrioventricular block |
ORPHA:85447 |
Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Hepatomegaly, Restrictive cardiomyopathy |
OMIM:607685 |
Familial Cervical Artery Dissection |
|
Diabetes mellitus, Transient ischemic attack, Facial palsy, Subarachnoid hemorrhage, Recurrent ce... |
ORPHA:36382 |
Acrogeria |
|
Excessive wrinkled skin, Telangiectasia of the skin, Prematurely aged appearance |
ORPHA:2500 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Decreased circulat... |
OMIM:103900 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
Desmoid Tumor |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin... |
ORPHA:873 |
Sandhoff Disease |
|
Splenomegaly, Hepatomegaly, Congestive heart failure |
ORPHA:796 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Abnormal left ventri... |
OMIM:540000 |
Persistent Idiopathic Facial Pain |
|
Abnormal autonomic nervous system physiology |
ORPHA:398147 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Poor appetite, Jaundice, Fulminant hepatitis, Gingiv... |
OMIM:618549 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,... |
ORPHA:679 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmona... |
OMIM:610655 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
Reynolds Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Raynaud phenomenon, Spl... |
OMIM:613471 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys... |
ORPHA:85451 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hematochezia, Hamartomatous polyp... |
OMIM:175050 |
Melorheostosis |
|
Skeletal muscle atrophy, Peripheral arteriovenous fistula |
ORPHA:2485 |
Prolidase Deficiency |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Diffus... |
OMIM:170100 |
Partington Syndrome |
|
Facial telangiectasia |
ORPHA:94083 |
Foix-Alajouanine Syndrome |
|
Distal lower limb amyotrophy, Myelopathy, Cervical myelopathy, Arteriovenous fistula, Distal lowe... |
ORPHA:79093 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Cir... |
OMIM:602390 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypertension, Hyperaldosteronism |
OMIM:605635 |
Scleroderma, Familial Progressive |
|
Abnormal abdomen morphology, Telangiectasia |
OMIM:181750 |
Dysautonomia-Like Disorder |
|
Abnormal autonomic nervous system physiology |
OMIM:224000 |
Immunodeficiency 104 |
|
Splenomegaly, Hepatomegaly, Diarrhea, Gastroesophageal reflux |
OMIM:608971 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion |
OMIM:614684 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Tachycardia, ... |
OMIM:168000 |
Necrobiosis Lipoidica |
|
Erythema, Telangiectasia of the skin, Fragile skin |
ORPHA:542592 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal EKG, Abnormality of the gastrointestinal trac... |
ORPHA:85443 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth... |
OMIM:620135 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Cutis Marmorata Telangiectatica Congenita |
|
Arteriovenous malformation, Patent ductus arteriosus, Telangiectasia of the skin, Arterial stenosis |
ORPHA:1556 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Skeletal muscle atrophy, Short stature, Intracranial hemorrhage, Myopathy, Arteriovenous malforma... |
ORPHA:109 |
Cholesteryl Ester Storage Disease |
|
Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Diarrhea, Esophageal varix, Cirrhosis,... |
ORPHA:75234 |
Lessel-Kubisch Syndrome |
|
Hypertension, Hypogonadism |
OMIM:618681 |
Glutaric Aciduria Iii |
|
Reduced peroxisomal glutaryl-CoA oxidase activity, Hypertension, Hyperthyroidism, Goiter |
OMIM:231690 |
Glucocorticoid Resistance, Generalized |
|
Increased circulating ACTH level, Hypertension, Increased circulating cortisol level, Increased s... |
OMIM:615962 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Coarcta... |
ORPHA:3092 |
Galactosemia Iii |
|
Splenomegaly, Hepatomegaly, Jaundice, Vomiting |
OMIM:230350 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:46532 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Angioedema, Pl... |
ORPHA:36412 |
Wolfram Syndrome, Mitochondrial Form |
|
Optic atrophy, Diabetes mellitus, Diabetes insipidus, Abnormal autonomic nervous system physiology |
OMIM:598500 |
Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary s... |
OMIM:618280 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Intrahepatic cholestasis, Jaundice, P... |
OMIM:602347 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Neuraminidase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Short stature, Bone-marrow foam cells, Cardiomegaly, Facia... |
OMIM:256550 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Arrhythmia, Bruising susceptibility |
ORPHA:230839 |
Multiple System Atrophy |
|
Raynaud phenomenon, Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic ... |
ORPHA:102 |
Melorheostosis With Osteopoikilosis |
|
Hypertension |
ORPHA:1879 |
Familial Atrial Myxoma |
|
Cardiomegaly, Cardiac myxoma, Pulmonic valve myxoma, Pedal edema, Dilatation of the cerebral arte... |
ORPHA:615 |
Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Umbilical hernia, Arteriovenous malformation |
ORPHA:584 |
Congenital Sialidosis Type 2 |
|
Hepatomegaly, Abnormal EKG, Telangiectasia, Hepatosplenomegaly, Ascites, Petechiae |
ORPHA:93400 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain |
OMIM:619182 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Livedo, Facial telangiectasia, Telangiectasia |
OMIM:614564 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Telangiectasia |
ORPHA:459033 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Pericardial effusion, Intrauterine growth retardation, Hypertrophic ca... |
OMIM:618775 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Cardiomegaly, Increased variability in muscle fiber ... |
OMIM:618654 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Vasculitis, Urticaria, Petechiae |
OMIM:603909 |
Trimethylaminuria |
|
Hypertension, Tachycardia |
OMIM:602079 |
Currarino Syndrome |
|
Arteriovenous malformation |
ORPHA:1552 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Vasculitis in the skin, Petechiae, Purpura |
OMIM:620296 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Tetralogy of Fallot, A... |
ORPHA:1166 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cirrhosis, Ne... |
OMIM:214900 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Nausea and vomiting, Intesti... |
ORPHA:97283 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... |
OMIM:620010 |
Grfoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Zollinger-Ellison syndrome, Hepatomegaly, Intermit... |
ORPHA:97261 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... |
ORPHA:93672 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Abdominal pain, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleedi... |
ORPHA:424019 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Tachycardia, Aganglionic megacolon, Abnormal autonomic nervous system physiology |
OMIM:613870 |
Lig4 Syndrome |
|
Hepatomegaly, Telangiectasia of the skin, Malabsorption, Erythema, Cutaneous photosensitivity |
ORPHA:99812 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Prolonged bleeding time, Gastritis, Myoc... |
ORPHA:809 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Intrauterine growth retardation, Truncus arteriosus, Abnormal aortic morphology, Ventricular sept... |
ORPHA:2516 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, ... |
OMIM:276700 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... |
OMIM:615158 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Spider hemangioma, Hepatic fibrosis, Neoplasm of the gallbladder, Adenocar... |
ORPHA:171 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis |
ORPHA:60 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615373 |
Multiple System Atrophy, Parkinsonian Type |
|
Raynaud phenomenon, Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic ... |
ORPHA:98933 |
Diffuse Cutaneous Systemic Sclerosis |
|
Nausea and vomiting, Telangiectasia of the skin, Malabsorption, Congestive heart failure, Xerosto... |
ORPHA:220393 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Mild postnata... |
OMIM:235510 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
Nail-Patella-Like Renal Disease |
|
Hypertension |
ORPHA:2613 |
Schöpf-Schulz-Passarge Syndrome |
|
Ectodermal dysplasia, Facial telangiectasia |
ORPHA:50944 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Short stature, Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventri... |
OMIM:252011 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Abnormal aortic morphology, Abnormal ... |
ORPHA:3405 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... |
OMIM:301045 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal autonomic nervous system physiology |
DECIPHER:59 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia |
ORPHA:1345 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Abdominal pain, Jaundice, Ascites |
ORPHA:890 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Hypertension, Decreased adiponectin level, Decreased serum leptin |
OMIM:615238 |
Ramon Syndrome |
|
Telangiectasia of the skin |
ORPHA:3019 |
Gaucher Disease Type 2 |
|
Splenomegaly, Hepatomegaly, Cardiac arrest, Dysphagia |
ORPHA:77260 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Card... |
OMIM:614096 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Hypertension |
ORPHA:1276 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... |
OMIM:619313 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Feeding difficulties... |
OMIM:619048 |
Hypertension And Brachydactyly Syndrome |
|
Hypertension |
OMIM:112410 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Telangiectasia of the skin, Poor wound healing, Dilated cardiomyopathy, Cardiomyopathy, Mitral re... |
OMIM:212112 |
Glucagonoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Necrolytic migratory erythema, Inter... |
ORPHA:97280 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myocardial infarction, Anorexia, Abdomin... |
ORPHA:3452 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar... |
ORPHA:90291 |
Hemoglobin H Disease |
|
Splenomegaly, Hepatomegaly |
OMIM:613978 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Polyhydramnios, Coarctation of aorta, Abnormal aortic morphology, Intr... |
ORPHA:1923 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis |
ORPHA:172 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Spina bifida, Patent ductus arteriosus, Anemia, Leuko... |
ORPHA:84 |
Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Premature graying of hair, Protei... |
OMIM:277175 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Restrictive cardiomyopathy, Ventriculomegaly, Sudden cardiac death |
OMIM:115210 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abdominal distention, Portal fibrosis, Hepatic fibro... |
ORPHA:369 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Hepatomegaly, Hypertension, Cholestasis |
OMIM:105200 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Hypertension, Increased c... |
OMIM:171400 |
Mitchell Syndrome |
|
Abnormal autonomic nervous system physiology |
OMIM:618960 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f... |
OMIM:618652 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Short stature, Coronary artery calcification, Cardiomegaly, Carotid artery calcification, Dilated... |
OMIM:208000 |
Immunodeficiency 48 |
|
Splenomegaly, Hepatomegaly, Diarrhea |
OMIM:269840 |
Cutis Marmorata Telangiectatica Congenita |
|
Hypertension, Cutis marmorata, Telangiectasia |
OMIM:219250 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, Cardiomegaly, Descendi... |
ORPHA:91387 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly |
OMIM:606445 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain |
OMIM:191390 |
Potocki-Shaffer Syndrome |
|
Hypertension, Hypothyroidism, Delayed puberty |
ORPHA:52022 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Abnormal autonomic nervous system physiology |
OMIM:615548 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content |
OMIM:232700 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Abnormality of the gastrointestinal t... |
ORPHA:91139 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:605115 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
Pediatric Hepatocellular Carcinoma |
|
Hepatomegaly, Abdominal pain, Portal vein thrombosis, Hepatic necrosis, Hepatic fibrosis, Vomiting |
ORPHA:33402 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Cardiomyopathy |
OMIM:610717 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Jaundice, Cyanosis |
OMIM:613977 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
Primary Intestinal Lymphangiectasia |
|
Edema, Pericardial effusion, Abnormal lymphatic vessel morphology, Growth delay, Pleural effusion... |
ORPHA:90362 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Hypertension |
OMIM:601894 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal... |
ORPHA:2041 |
Angioosteohypotrophic Syndrome |
|
Prominent superficial veins, Telangiectasia of the skin |
ORPHA:75508 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Jaundice,... |
OMIM:211600 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Diarrhea, Intracranial hemorrhage, Oral cavity bleeding, ... |
ORPHA:324636 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... |
OMIM:617228 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Macrovesicular hepatic st... |
OMIM:618234 |
Classic Homocystinuria |
|
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Anorexia, Pulmonary emb... |
ORPHA:394 |
Partial Atrioventricular Septal Defect |
|
Transient ischemic attack, Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventri... |
ORPHA:1330 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp... |
OMIM:616828 |
Scimitar Syndrome |
|
Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Atrial septal defect, Single ventricle,... |
ORPHA:185 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... |
ORPHA:97286 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... |
OMIM:619232 |
Multiple System Atrophy, Cerebellar Type |
|
Raynaud phenomenon, Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic ... |
ORPHA:227510 |
Myxopapillary Ependymoma |
|
Autonomic bladder dysfunction |
ORPHA:251643 |
Renal Failure, Progressive, With Hypertension |
|
Hypertension |
OMIM:161900 |
Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Diarrhea, Vasculitis |
OMIM:601979 |
Anonychia With Flexural Pigmentation |
|
Macular telangiectasia |
ORPHA:69125 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... |
ORPHA:404 |
Tetanus |
|
Tachycardia, Hypertension, Abnormal autonomic nervous system physiology, Bradycardia, Autonomic b... |
ORPHA:3299 |
Coach Syndrome 2 |
|
Elevated hepatic transaminase, Hypertension, Hydrocephalus |
OMIM:619111 |
Iga Nephropathy, Susceptibility To, 3 |
|
Hypertension |
OMIM:616818 |
Mulibrey Nanism |
|
Hepatomegaly, Short stature, Cardiomegaly, Hydrops fetalis, Myocardial fibrosis, Growth delay, Pe... |
OMIM:253250 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas... |
OMIM:615954 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Reduced systolic function, Dilated cardiomyopathy, Elevated circulating alanine ami... |
OMIM:618805 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular ta... |
OMIM:600649 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
Bonnemann-Meinecke-Reich Syndrome |
|
Decreased response to growth hormone stimulation test, Ventriculomegaly |
ORPHA:1261 |
Fish-Eye Disease |
|
Splenomegaly, Hepatomegaly, Angina pectoris |
ORPHA:79292 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Mitral valve prolapse |
OMIM:616166 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Atrial septal defect, Patent ductus arteriosus, Short stature, Coarctation of aorta |
OMIM:615502 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... |
OMIM:619702 |
Congenital Enterovirus Infection |
|
Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Hydrops fetalis, Cardiomyopathy... |
ORPHA:292 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion |
ORPHA:411703 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Abnormal autonomic nervous system physiology |
OMIM:617935 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pericardial effusion, Splenomegaly, Pedal edema, Growth delay, Delayed puberty, Abn... |
ORPHA:77259 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... |
OMIM:619868 |
Peripartum Cardiomyopathy |
|
Tachycardia, Diabetes mellitus, Abnormality of thyroid physiology, Right ventricular failure, Car... |
ORPHA:563 |
Iga Nephropathy, Susceptibility To, 2 |
|
Hypertension |
OMIM:613944 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Spina bifida, Patent ductus arteriosus, A... |
ORPHA:1120 |
Adiposis Dolorosa |
|
Telangiectasia of the skin, Diarrhea, Xerostomia, Constipation, Bruising susceptibility |
ORPHA:36397 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... |
ORPHA:758 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Decreased circulating cortisol level, Orthostatic hypotension, Optic atrophy, Adrenocorticotropin... |
OMIM:231550 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Hypertension |
OMIM:137950 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... |
ORPHA:403 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation, C... |
ORPHA:160148 |
Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Hepatomegaly, Jaundice |
OMIM:237800 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Abnormal bleeding, Hepato... |
ORPHA:480520 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Type I diabetes mellitus, Hypertension, Anterior hypopituitarism |
ORPHA:181 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart |
ORPHA:2001 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Intrauterine growth retardation, Ascites, Cardiomegaly |
ORPHA:858 |
Focal Segmental Glomerulosclerosis 5 |
|
Hypertension |
OMIM:613237 |
Fabry Disease |
|
Transient ischemic attack, Angina pectoris, Myocardial infarction, Congestive heart failure, Hype... |
OMIM:301500 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Permanent atrial fibrillation, Inflammatory arteriopa... |
ORPHA:31825 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:615917 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Cardiomyopathy, Cirrhosis, Arrhythmia, Hepatic steatosis |
OMIM:606069 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... |
OMIM:617205 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Pericardial effusion, Cardiomyopathy, Skeletal muscle atrophy |
OMIM:620089 |
8P23.1 Microdeletion Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Patent ductus arterios... |
ORPHA:251071 |
Focal Segmental Glomerulosclerosis 2 |
|
Hypertension |
OMIM:603965 |
Pseudohypoaldosteronism, Type Iia |
|
Hypertension, Pseudohypoaldosteronism |
OMIM:145260 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... |
ORPHA:2929 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hypertension |
OMIM:607832 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology |
ORPHA:139578 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Darier's sign, Urticaria, Abdominal cramps, Generalized abnormality o... |
ORPHA:98848 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Abnormal autonomic nervous system physiology |
ORPHA:101046 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Pericarditis, Edema, Pericardial effusion, Hepatosplenomegaly, Lower limb hypertoni... |
OMIM:619487 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Ventricular septal defect, Short stature, Postnatal growth retardation, Splenomegal... |
OMIM:620210 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Abdominal pain, Splenomegaly, A... |
ORPHA:100025 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Abnormal aortic morphology |
ORPHA:3222 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertension, Insulin-resistant diabetes mellitus |
OMIM:613877 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Arrhythmia, Abnormal autonomic nervous system physiology, Cardiac arrest |
ORPHA:168593 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Prominent superficial veins, Increased subcutaneous truncal adi... |
OMIM:608600 |
Porphyria Variegata |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Tachycardia... |
ORPHA:79473 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Diarrhea, Intermittent jaundice, Cirrhosis,... |
OMIM:601847 |
Immunoglobulin A Vasculitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Anorexia, Abdominal pain, Angioedema, Vasculiti... |
ORPHA:761 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
ORPHA:329284 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Nonimmune hydrops fetalis, Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular sept... |
OMIM:618052 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:610743 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnor... |
ORPHA:99050 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Abdominal pain, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnorma... |
ORPHA:234 |
Glomuvenous Malformation |
|
Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation |
ORPHA:83454 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun... |
OMIM:607765 |
Carney Triad |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin... |
ORPHA:139411 |
Drug-Induced Lupus Erythematosus |
|
Pericardial effusion, Pericarditis |
ORPHA:231111 |
Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology |
OMIM:605543 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Micronodular c... |
ORPHA:139507 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Type I diabetes mellitus, Hypertension |
ORPHA:1192 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Mild postnatal growth retardation, Camptodactyly of finger, Pericardia... |
ORPHA:2136 |
Solitary Rectal Ulcer Syndrome |
|
Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Chronic constipation, Ten... |
ORPHA:209964 |
Galactose Mutarotase Deficiency |
|
Hepatomegaly, Decreased liver function, Cholestasis |
ORPHA:570422 |
Acute Radiation Syndrome |
|
Abnormal bleeding, Diarrhea, Telangiectasia, Vomiting, Hypotension |
ORPHA:454831 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal bleeding, Hepatomegaly, Epistaxis, Splenomegaly, Hepatosplenomegaly, Petechiae |
OMIM:612840 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Hepatomegaly, Pleural effusion, Splenomegaly |
OMIM:613011 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Prolonged QT... |
ORPHA:90065 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hepatomegaly, Cardiac arrest, Feeding difficulties, Vomiting, Bradycardia, Hypertrophic cardiomyo... |
OMIM:618235 |
Aortic Valve Disease 2 |
|
Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As... |
OMIM:614823 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Decreased circulating cortisol level, Hypotension |
OMIM:611489 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Abnormal bleeding, Cardiom... |
ORPHA:57777 |
Cardiomyopathy, Dilated, 1A |
|
Pericardial effusion, Dilated cardiomyopathy |
OMIM:115200 |
Lynch Syndrome |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Intestinal poly... |
ORPHA:144 |
Superficial Siderosis |
|
Subarachnoid hemorrhage, Abnormal vertebral artery morphology, Arteriovenous malformation, Lower ... |
ORPHA:247245 |
Blue Rubber Bleb Nevus |
|
Rectal prolapse, Abnormality of the liver, Intestinal bleeding, Volvulus, Intussusception |
OMIM:112200 |
Meacham Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Neonatal death, Scimitar anomaly, Diaphragmatic even... |
OMIM:608978 |
Antisynthetase Syndrome |
|
Aortic regurgitation, Telangiectasia of the skin, Myocarditis, Xerostomia, Dysphagia, Pulmonary a... |
ORPHA:81 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... |
ORPHA:392 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Hematemesis, Pancreatic cysts, Splenomegaly, Esophageal varix,... |
OMIM:263200 |
Moyamoya Disease With Early-Onset Achalasia |
|
Raynaud phenomenon, Hypertension |
ORPHA:401945 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Cutis marmorata, Raynaud phenomenon, Erythema, Livedo reticularis, Telangiectasia |
OMIM:615934 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Di... |
OMIM:235555 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Pericardial effusion, Abnormal myocardium morphology, Dilated cardiomyopathy, Muscular dystrophy |
ORPHA:300751 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of the adrenal gland, ... |
ORPHA:231625 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis |
OMIM:616719 |
Alagille Syndrome |
|
Hepatomegaly, Telangiectasia of the skin, Cholestasis, Hypertension, Reduced number of intrahepat... |
ORPHA:52 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... |
ORPHA:731 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Carotid artery stenosis, Pericardial effusion, Prominent veins on trunk, Mitral valve prolapse, V... |
ORPHA:536532 |
Q Fever |
|
Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Abnormal vascular morphology, Perica... |
ORPHA:781 |
Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fallot, Patent fo... |
OMIM:601005 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Conjunctival telangiectasia, Progeroid facial appearance, Cutaneous telangiectasia, Dysphagia, Cu... |
OMIM:615919 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Atrial fibrillation, Puberty and gonadal disorders, Congestive hea... |
ORPHA:525731 |
Pleural Mesothelioma |
|
Hepatomegaly, Abnormal cardiovascular system physiology, Dysphagia |
ORPHA:50251 |
Cystic Hamartoma Of Lung And Kidney |
|
Hypertension |
ORPHA:2111 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Cerebral hemorrhage, Congestive heart failure, Cranial nerve comp... |
ORPHA:94080 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Recurrent aphthous stomatitis |
OMIM:616622 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... |
ORPHA:251274 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Liddle Syndrome |
|
Hypertension, Arrhythmia, Cerebral ischemia |
ORPHA:526 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Pulmonic stenosis, Facial telangiectasia |
OMIM:620141 |
Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Cardiomegaly, Patent duct... |
ORPHA:980 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201910 |
Mulibrey Nanism |
|
Hepatomegaly |
ORPHA:2576 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arterios... |
ORPHA:284169 |
Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Nausea and vomi... |
ORPHA:440437 |
Caribbean Parkinsonism |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunct... |
ORPHA:97355 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Cardiomyopathy |
OMIM:232400 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Z-band streaming, Coarctation of aorta, Calf muscle h... |
OMIM:619178 |
Diabetic Embryopathy |
|
Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Tetralogy of Fal... |
ORPHA:1926 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Abnormal autonomic nervous system physiology |
OMIM:618049 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
OMIM:300845 |
Alkuraya-Kucinskas Syndrome |
|
Edema, Pericardial effusion, Camptodactyly, Arthrogryposis multiplex congenita, Pleural effusion |
OMIM:617822 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Diabetes mellitus, Transient ischemic attack, Cerebral hemorrhage, Intracranial hemorrhage, Hyper... |
ORPHA:136 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... |
ORPHA:280679 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Jaundice, Eryt... |
ORPHA:913 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hypertension, Type II d... |
OMIM:604367 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Diarrhea, Increased hepatic glycogen content |
OMIM:261750 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Nausea and vom... |
ORPHA:36426 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Exercise-induced rhabdomyolysis, Ventricular septal defect, Pericardial effusion, D... |
ORPHA:26793 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypertension, Myocardial infarction |
ORPHA:54370 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature pubarche, Isosexual precocious puberty, Premature... |
ORPHA:90795 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertension, Increased circulatin... |
OMIM:219080 |
Variant Abeta2M Amyloidosis |
|
Reduced left ventricular ejection fraction, Abnormal autonomic nervous system physiology |
ORPHA:314652 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:278000 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Abnormal autonomic nervous system physiology, Optic atrophy, Bradycardia |
OMIM:614498 |
Heterotaxy, Visceral, 1, X-Linked |
|
Polyhydramnios, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, At... |
OMIM:306955 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... |
OMIM:613426 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Abdominal pain, Rectal prolapse, Adenomatous colo... |
ORPHA:79076 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Cardiomegaly, Lip telangiectasia, ... |
ORPHA:79280 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, ... |
ORPHA:77261 |
Liddle Syndrome 2 |
|
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:618126 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hydrops fetalis, Ascites |
OMIM:269920 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Nausea and vomiting, Angina pectoris, Transient... |
ORPHA:324 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Male hypogonadism, Decreased circulating renin level, Eleva... |
ORPHA:90793 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Hematochezia, Colitis, Enterocolitis, Crohn's disease |
OMIM:613148 |
Schnitzler Syndrome |
|
Splenomegaly, Hepatomegaly, Urticaria, Vasculitis |
ORPHA:37748 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv... |
OMIM:212140 |
Babesiosis |
|
Nausea and vomiting, Hepatomegaly, Myocardial infarction, Anorexia, Congestive heart failure, Jau... |
ORPHA:108 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Pleural effusion, Peripheral edema |
ORPHA:79126 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Right Atrial Isomerism |
|
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera... |
OMIM:208530 |
Pediatric Systemic Lupus Erythematosus |
|
Myositis, Edema, Pericardial effusion, Pleural effusion, Ascites |
ORPHA:93552 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Flexion contr... |
OMIM:212065 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Sudden cardiac death, Cardiomegaly, Episodic vomiting, H... |
OMIM:201475 |
Phaver Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Myelomeningocele, Hypoplastic aortic arch, Co... |
ORPHA:2876 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Adrenal hyperplasia, Hypertension, Increased circulating cortisol level, Prima... |
OMIM:615830 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Diabetes mellitus, Abnormal cardiac ventricular function, Atrial fibrillation, Ca... |
ORPHA:439232 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Nausea and vom... |
ORPHA:537 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Feeding difficulties, Syncope, Palpitations, Diffuse pancreatic islet ... |
ORPHA:276556 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Abnormal autonomic nervous system physiology, Hypothyroidism, Hashimoto thyr... |
ORPHA:83601 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Stomatitis, Spider hemangioma, Chronic pancreatitis, Hypertension, Inflammation of ... |
OMIM:232240 |
Iga Nephropathy, Susceptibility To, 1 |
|
Hypertension |
OMIM:161950 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Retinal hemorrhage, Cerebral hemorrhage |
OMIM:177850 |
American Trypanosomiasis |
|
Hepatomegaly, Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Myocard... |
ORPHA:3386 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
Pulmonary Capillary Hemangiomatosis |
|
Pericardial effusion, Pedal edema, Abnormal pulmonary vein morphology, Pleural effusion, Pulmonar... |
ORPHA:199241 |
Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Hypertens... |
ORPHA:347 |
Myhre Syndrome |
|
Ventricular septal defect, Short stature, Pericardial effusion, Patent ductus arteriosus, General... |
OMIM:139210 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hypertension, Diabetes mellitus |
OMIM:615980 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension |
ORPHA:820 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Skeletal muscle hypertrophy, Card... |
OMIM:300280 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Telangiectasia |
OMIM:604391 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Feeding difficulties, Syncope, Palpitations, Diffuse pancreatic islet ... |
ORPHA:276575 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Chronic constipation, Telangiectasia |
OMIM:612582 |
Erythermalgia, Primary |
|
Abnormal autonomic nervous system physiology, Palpitations |
OMIM:133020 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertension, Hyperinsulinemia |
ORPHA:363400 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Severe short stature, Ventricular septal defect, Short stature, Congenital ... |
OMIM:601186 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Congestive heart failure, Dilat... |
ORPHA:367 |
Heterotaxy, Visceral, 7, Autosomal |
|
Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl... |
OMIM:616749 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Chronic diarrhea, Enlarged kidney |
OMIM:615285 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Splenomegaly, Hepatomegaly, Abdominal pain |
OMIM:618852 |
Liddle Syndrome 1 |
|
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:177200 |
Heme Oxygenase 1 Deficiency |
|
Elevated circulating aspartate aminotransferase concentration, Epistaxis, Diffuse alveolar hemorr... |
OMIM:614034 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Abnormal heart morphology, Cardiomyopathy, Left ven... |
ORPHA:1344 |
Werner Syndrome |
|
Telangiectasia of the skin, Prematurely aged appearance, Myocardial infarction, Congestive heart ... |
ORPHA:902 |
Polycystic Kidney Disease 5 |
|
Hypertension |
OMIM:617610 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Hepatomegaly, Pericarditis, Congestive heart failure |
ORPHA:163596 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Hyperte... |
ORPHA:77296 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Dysphagia, Retinal telangiectasia |
OMIM:158900 |
Zygomycosis |
|
Unusual gastrointestinal infection, Colitis, Vomiting, Nausea, Abdominal pain, Hepatitis, Hematoc... |
ORPHA:73263 |
Familial Isolated Restrictive Cardiomyopathy |
|
Hepatomegaly, Tricuspid regurgitation, Atrial fibrillation, Supraventricular arrhythmia, Abnormal... |
ORPHA:75249 |
Alexander Disease |
|
Diabetes mellitus, Facial palsy, Sudden cardiac death, Precocious puberty, Aqueductal stenosis, H... |
ORPHA:58 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Abdominal pain, Jaundic... |
OMIM:229600 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Raynaud phenomenon, Hypertension, Ischemic stroke |
OMIM:615750 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Nephronophthisis 18 |
|
Hypertension, Hydrocephalus |
OMIM:615862 |
Leukodystrophy, Hypomyelinating, 12 |
|
Optic atrophy, Abnormal autonomic nervous system physiology, Ventriculomegaly |
OMIM:616683 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
Takayasu Arteritis |
|
Myocardial infarction, Vasculitis, Hypertension, Cerebral ischemia, Pulmonary arterial hypertensi... |
ORPHA:3287 |
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Optic atrophy, Abnormal autonomic nervous system physiology, Ventriculomegaly |
ORPHA:466934 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Abnormal bleeding, Heart bloc... |
ORPHA:398124 |
Infantile Systemic Hyalinosis |
|
Abnormality of the gastrointestinal tract, Telangiectasia of the skin, Malabsorption, Chronic dia... |
ORPHA:2176 |
Pfapa Syndrome |
|
Nausea and vomiting, Hepatomegaly, Abdominal pain, Malabsorption, Splenomegaly |
ORPHA:42642 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Coarctation of aorta, Su... |
OMIM:618164 |
Aa Amyloidosis |
|
Hepatomegaly, Abdominal pain, Malabsorption, Chronic diarrhea, Malnutrition, Cholestasis, Vomitin... |
ORPHA:85445 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Pericardial effusion, Splenomegaly, Hepatosplenomegaly, Abnormal lymphatic v... |
ORPHA:464329 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
Grange Syndrome |
|
Aortic regurgitation, Hypertension |
ORPHA:79094 |
Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Syncope, ... |
OMIM:603472 |
Sneddon Syndrome |
|
Hypertension, Ischemic stroke, Facial palsy, Cerebral hemorrhage |
OMIM:182410 |
Xeroderma Pigmentosum, Complementation Group E |
|
Cutaneous photosensitivity, Telangiectasia |
OMIM:278740 |
Aymé-Gripp Syndrome |
|
Pericarditis, Short stature, Congenital diaphragmatic hernia, Pericardial effusion, Postnatal gro... |
ORPHA:1272 |
Leukoencephalopathy With Vanishing White Matter 4 |
|
Optic atrophy, Ventriculomegaly |
OMIM:620314 |
Senior-Loken Syndrome |
|
Hypertension |
ORPHA:3156 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Hypertension, Mitral re... |
OMIM:614473 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Abnormal EKG, Left-to-right shunt, Tachycardia, Cyanosis, Right ventricular failure... |
ORPHA:1329 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Caroli Disease |
|
Liver abscess, Cholangitis, Anorexia, Hepatic fibrosis, Vomiting, Nausea, Hepatomegaly, Portal hy... |
ORPHA:53035 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal cardiac ventricular function, Feeding diffi... |
ORPHA:2394 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Chronic diarrhea, Feeding difficulties... |
OMIM:613489 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Sudden cardiac death, Arrhythmia, Hypertrophic cardi... |
ORPHA:156 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice |
OMIM:243300 |
Epidermodysplasia Verruciformis |
|
Telangiectasia of the skin |
ORPHA:302 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Plantar telangiectasia, Ascites, Cutis marmorata, Palmar telangiectasia |
ORPHA:69735 |
Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Abdominal pain, Erythema, Urticaria, Vomiting, Hypotension, Arrhythmia |
ORPHA:2135 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Short stature, Double outlet right ventricle, Coarctation of aorta, Hy... |
ORPHA:3426 |
Wolman Disease |
|
Nausea and vomiting, Hepatomegaly, Splenomegaly, Abdominal distention, Malnutrition, Esophageal v... |
ORPHA:75233 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:619064 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hypertension, Decreased liver function |
OMIM:600666 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hepatic stea... |
OMIM:612526 |
Harderoporphyria |
|
Hepatomegaly, Splenomegaly, Vomiting, Prolonged neonatal jaundice, Cutaneous photosensitivity |
OMIM:618892 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Abdominal pain, Malabsorption, Diarrhea, Dysphagia, He... |
ORPHA:2070 |
Alg9-Cdg |
|
Hepatomegaly, Torticollis, Ventricular septal defect, Rhizomelia, Hypoplasia of the musculature, ... |
ORPHA:79328 |
Apparent Mineralocorticoid Excess |
|
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:218030 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Abnormal bleeding, Poor... |
ORPHA:247598 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure |
ORPHA:1349 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Chronic active hepatitis, Hypergonadotropic hypogonadism, Decrease... |
OMIM:203800 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Aganglionic megacolon, Abnormal autonomic nervous system physiology |
OMIM:243180 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, Macroglo... |
OMIM:617022 |
Neuroendocrine Neoplasm Of Appendix |
|
Anorexia, Poor appetite, Adenocarcinoma of the colon, Hepatomegaly, Abdominal colic, Functional i... |
ORPHA:100079 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... |
ORPHA:369929 |
Livedoid Vasculopathy |
|
Telangiectasia of the skin, Cutis marmorata, Poor wound healing, Hypertension, Ischemic stroke, M... |
ORPHA:542643 |
Poems Syndrome |
|
Edema, Pericardial effusion, Pleural effusion, Ascites, Visceromegaly |
ORPHA:2905 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Autonomic bladder dysfunction, Autonomic erectile dysfunction, Orthostatic hypotension due to aut... |
OMIM:169500 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Nausea and vomiting, Hepatomegaly, Anorexia, Abdominal pain, Splenomegaly, Feeding difficulties, ... |
ORPHA:79312 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Medial calcification of large arteries, Transient ischemic attack, Coron... |
ORPHA:51608 |
Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
Lipoyltransferase 1 Deficiency |
|
Elevated hepatic transaminase, Bradycardia, Decreased liver function, Pulmonary arterial hyperten... |
OMIM:616299 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Prematurely aged appearance, H... |
ORPHA:3342 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Enlarged kidney, Purpura |
OMIM:613496 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Intrauterine growth retardation, Nonimmune hydrops fetalis, Cardiomegaly |
OMIM:618838 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertensi... |
ORPHA:231580 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Hypertension, Type II diabetes mellitus, Myocardial infarction |
OMIM:618620 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypertension, Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T... |
OMIM:614779 |
Sea-Blue Histiocytosis |
|
Splenomegaly, Hepatomegaly, Abnormal bleeding, Petechiae |
ORPHA:158029 |
Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Peptic ulcer, Malabsorption, Splenomegaly |
ORPHA:2796 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Postnatal growth retardation, Patent ductus arteriosus, Abnormal cardiac v... |
ORPHA:2306 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
Ectopic Aldosterone-Producing Tumor |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Adrenocortical ad... |
ORPHA:231632 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Malabsorption, Chronic diarrhea, Telangiectasia, Cutaneous photosensitivity |
OMIM:601675 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Postnatal growth retardation, Patent ductu... |
ORPHA:96191 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Lig4 Syndrome |
|
Cutaneous photosensitivity, Telangiectasia |
OMIM:606593 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Shock, Abnormal bleeding, Jaundice, D... |
ORPHA:90062 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis |
OMIM:605479 |
Poikiloderma With Neutropenia |
|
Splenomegaly, Telangiectasia |
OMIM:604173 |
Paroxysmal Hemicrania |
|
Hypertension, Diabetes mellitus |
ORPHA:157835 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... |
ORPHA:1677 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Abnormal autonomic nervous system physiology, Ventriculomegaly |
OMIM:617903 |
Cantú Syndrome |
|
Abnormal heart valve morphology, Cardiomegaly, Patent ductus arteriosus, Umbilical hernia, Hypert... |
ORPHA:1517 |
Stiff Skin Syndrome |
|
Hypertension, Type II diabetes mellitus |
ORPHA:2833 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Pheochromocyto... |
OMIM:171420 |
Neuroleptic Malignant Syndrome |
|
Elevated hepatic transaminase, Tachycardia, Pulmonary embolism, Hypertension, Elevated circulatin... |
ORPHA:94093 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Cirrhosi... |
OMIM:616860 |
Infantile Neuroaxonal Dystrophy |
|
Increased circulating lactate dehydrogenase concentration, Optic atrophy, Abnormal autonomic nerv... |
ORPHA:35069 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
Noonan Syndrome 9 |
|
Short stature, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:616559 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Anorexia, Abnormal left ventricular function, Cholecystitis, Ecchymosis, Int... |
ORPHA:99827 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Enlarged kidney, H... |
OMIM:615415 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Hepatomegaly |
OMIM:603902 |
Erythroleukemia, Familial, Susceptibility To |
|
Splenomegaly, Hepatomegaly |
OMIM:133180 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventriculomegaly |
ORPHA:2515 |
Vascular Ehlers-Danlos Syndrome |
|
Peripheral arteriovenous fistula, Arterial dissection, Transient ischemic attack, Abnormal heart ... |
ORPHA:286 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy, Intrauterine ... |
OMIM:617713 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Flexion contracture, Hydrops fetalis, Pl... |
OMIM:616897 |
Classical Ehlers-Danlos Syndrome |
|
Orthostatic hypotension, Arterial rupture, Mitral valve prolapse, Dilatation of the cerebral arte... |
ORPHA:287 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Right bundle branch block, Dilated cardiomyopathy, Left ventricular systolic dysfunction, Ventric... |
ORPHA:206559 |
Xeroderma Pigmentosum, Complementation Group C |
|
Cutaneous photosensitivity, Telangiectasia |
OMIM:278720 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy |
ORPHA:93476 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Esophageal stenosis, Telangiectasia of the skin, Malabsor... |
ORPHA:1775 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cutaneous photosensitivity, Corneal neovascularization, Telangiectasia |
OMIM:278730 |
Posttransplant Acute Limbic Encephalitis |
|
Abnormal autonomic nervous system physiology |
ORPHA:163921 |
Xeroderma Pigmentosum, Variant Type |
|
Cutaneous telangiectasia, Cutaneous photosensitivity |
OMIM:278750 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Diabetes mellitus, Intrahepatic cholestasis, Hypertension, Elevate... |
ORPHA:69663 |
Fibromuscular Dysplasia, Arterial |
|
Arterial fibromuscular dysplasia, Stroke, Aortic dissection |
OMIM:135580 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Ventricular tachycardia, Atrioventri... |
OMIM:212138 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Atrial septal defect, Patent ductus arteriosus, Growth delay, Coarctation of aorta |
OMIM:614857 |
Pseudohypoaldosteronism, Type Iib |
|
Hypertension, Pseudohypoaldosteronism |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hypertension, Pseudohypoaldosteronism |
OMIM:614495 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Hypertension |
OMIM:616069 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Shor... |
OMIM:605275 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Hepatosplenomegaly, Facial te... |
OMIM:602782 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Edema, Pericardial effusion, Splenomegaly, Vasculitis, Oligohydramnios, Intrauterin... |
OMIM:615846 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Villous atrophy, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic hepatitis, Co... |
OMIM:614602 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Pericarditis, Recurrent intrapulmonary hemorrha... |
ORPHA:900 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Epistaxis, Telangiectasia, Constipation, Esophagitis, Dysphagia |
ORPHA:495818 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Malnutrition, Steatorrhea, Exocrine pancreatic insufficiency |
OMIM:612714 |
Pseudohypoaldosteronism, Type Iic |
|
Hypertension, Pseudohypoaldosteronism, Decreased circulating renin level |
OMIM:614492 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea... |
ORPHA:263665 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Coarctation of aorta |
OMIM:217085 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Scapular winging, Descending aortic dissection, Small thenar eminence, Ascending aortic dissectio... |
OMIM:620080 |
Klippel-Trenaunay-Weber Syndrome |
|
Arteriovenous fistula |
OMIM:149000 |
Noonan Syndrome 10 |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Increased nuchal translucency... |
OMIM:616564 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Anasarca, Pleural effusion, Ascites |
OMIM:618183 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Intestinal obstruction, Pulmonary embolism, Abdominal pain, Malabsorption, Diarrhea... |
OMIM:226300 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Gastrostomy tube feeding in infancy, Aganglionic megacolon, Telangiectasia |
ORPHA:247262 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Dilated cardiomyopathy, Left ventricular noncompaction, Neonatal death, Left ventri... |
OMIM:619167 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Hypertension |
ORPHA:567544 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Abnormal bleeding, Hepatomegaly, Villous atrophy, Diarrhea, Steatorrhea, Hepatic fibrosis, Vomiti... |
OMIM:602579 |
Griscelli Syndrome Type 2 |
|
Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Premature graying of hair, Petechiae |
ORPHA:79477 |
Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:601494 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Abdominal pain, Rectal prolapse, Biliary tract abnorma... |
OMIM:175200 |
Extracranial Carotid Artery Aneurysm |
|
Diabetes mellitus, Subarachnoid hemorrhage, Vasculitis, Hypertension, Cerebral ischemia, Arteritis |
ORPHA:494424 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Telangiectasia of the skin |
ORPHA:85321 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... |
OMIM:231005 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypertension, Hypothyroidism, Abnormal autonomic nervous system physiology, Hypotension |
ORPHA:93256 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Increased nuchal translucency, Abnormal heart morphology, Persistent l... |
OMIM:618494 |
Sandifer Syndrome |
|
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... |
ORPHA:71272 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Optic atrophy, Hypogonadotropic hypogonadism, Autonomic bladder dysfunction, Delayed puberty |
ORPHA:447896 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... |
ORPHA:66529 |
Congenital Hydrocephalus |
|
Hydrocephalus, Optic atrophy, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Abdominal pain, Intraventricular hemorrhage, Diarrhea, Erythema, Tel... |
ORPHA:420741 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abdominal pain, Congestive heart failure, Splenomega... |
OMIM:615895 |
Focal Segmental Glomerulosclerosis 1 |
|
Hypertension |
OMIM:603278 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Abdominal pain, Jaundice, Extrahepatic cholestasis |
ORPHA:99978 |
Leukodystrophy, Hypomyelinating, 24 |
|
Decreased motor nerve conduction velocity, Hypothyroidism, Ventriculomegaly |
OMIM:619851 |
Meacham Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Patent ductus... |
ORPHA:3097 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy |
ORPHA:103910 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Feeding difficulties in infan... |
OMIM:613070 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Reduced subcutaneous adipose tissue, Telangiectasia of extensor surfaces, Facial telangiectasia i... |
OMIM:137940 |
Systemic Lupus Erythematosus 17 |
|
Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis |
OMIM:301080 |
Seckel Syndrome 10 |
|
Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Elevated circul... |
OMIM:617253 |
Pparg-Related Familial Partial Lipodystrophy |
|
Diabetes mellitus, Maternal diabetes, Congestive heart failure, Insulin-resistant diabetes mellit... |
ORPHA:79083 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
Machado-Joseph Disease |
|
Dilated fourth ventricle, Abnormal autonomic nervous system physiology |
OMIM:109150 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Abdominal pain... |
ORPHA:567983 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Anorexia, Abdominal pain, Malabsorptio... |
ORPHA:79430 |
Nelson Syndrome |
|
Increased urinary cortisol level, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormo... |
ORPHA:199244 |
Apparent Mineralocorticoid Excess |
|
Hypertension, Decreased circulating aldosterone level, Abnormality of circulating cortisol level,... |
ORPHA:320 |
Pseudohypoaldosteronism, Type Iie |
|
Hypertension, Pseudohypoaldosteronism |
OMIM:614496 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Abnormal mesentery m... |
ORPHA:3463 |
Primary Myelofibrosis |
|
Abnormal bleeding, Hepatomegaly, Portal hypertension, Anorexia, Splenomegaly, Hepatosplenomegaly,... |
ORPHA:824 |
3-Hydroxyisobutyric Aciduria |
|
Hypogonadotropic hypogonadism, Ventriculomegaly |
ORPHA:939 |
Xeroderma Pigmentosum, Complementation Group A |
|
Cutaneous photosensitivity, Telangiectasia |
OMIM:278700 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... |
ORPHA:70475 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent duc... |
OMIM:270100 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Inherited Creutzfeldt-Jakob Disease |
|
Vestibular nystagmus, Abnormal autonomic nervous system physiology |
ORPHA:282166 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Hypertension |
OMIM:616733 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Decreased nerve conduction velocity, Ventriculomegaly |
ORPHA:1188 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Nausea and vomiting, Hepatomegaly, Prolonged bleeding time, Splenomegaly, Intracranial hemorrhage... |
ORPHA:3226 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
Stiff-Person Syndrome |
|
Hypertension, Tachycardia, Diabetes mellitus |
OMIM:184850 |
Gaucher Disease, Type I |
|
Hepatomegaly, Epistaxis, Hypersplenism, Splenomegaly, Hypertension, Mitral regurgitation, Pulmona... |
OMIM:230800 |
Rett Syndrome |
|
Abnormal autonomic nervous system physiology, Increased serum leptin |
ORPHA:778 |
H Syndrome |
|
Malabsorption, Abnormal cardiovascular system physiology, Hepatosplenomegaly, Facial telangiectas... |
ORPHA:168569 |
Erythrocytosis, Familial, 1 |
|
Hypertension, Cerebral hemorrhage, Myocardial infarction |
OMIM:133100 |
Overlap Myositis |
|
Elevated hepatic transaminase, Diabetes mellitus, Raynaud phenomenon, Hypertension, Pulmonary art... |
ORPHA:206572 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypertension |
OMIM:166300 |
Mosaic Trisomy 16 |
|
Ventricular septal defect, Large placenta, Patent ductus arteriosus, Abnormal heart morphology, C... |
ORPHA:1708 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Abnormal autonomic nervous system physiology, Orthostatic hypotension due to auto... |
OMIM:105210 |
Beta-Thalassemia |
|
Hepatomegaly, Splenomegaly, Hepatitis, Cholelithiasis, Hypertrophic cardiomyopathy |
ORPHA:848 |
Dermatomyositis |
|
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Feeding difficulties in infancy,... |
ORPHA:221 |
Behçet Disease |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Nausea and vomiting, Myocardial ... |
ORPHA:117 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Lymphedema, Cardiomegaly |
ORPHA:3137 |
Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage, Ventriculomegaly |
OMIM:614483 |
Mpdu1-Cdg |
|
Abnormal circulating enzyme concentration or activity, Decreased serum insulin-like growth factor... |
ORPHA:79323 |
Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Diarrhea, Asymmetric septal hypertrophy |
OMIM:252920 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Cerebral hemorrhage, Congestive he... |
ORPHA:276621 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular... |
OMIM:617168 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hematochezia, Cholestatic liver disease, Cho... |
ORPHA:79095 |
Polyarteritis Nodosa |
|
Raynaud phenomenon, Cardiomyopathy, Pericarditis, Hypertension |
ORPHA:767 |
Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of... |
OMIM:203300 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Post-partum hemorrhage, Melena, Oral cavity bleeding, Gingival ble... |
ORPHA:98870 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Nausea and vomiting, Anorexia, Poor appetite, Malabsorpti... |
ORPHA:97282 |
Juvenile Paget Disease |
|
Hypertension, Optic atrophy |
ORPHA:2801 |
Noonan Syndrome 12 |
|
Decreased response to growth hormone stimulation test, Ventriculomegaly, Supravalvular aortic ste... |
OMIM:618624 |
Pituitary Apoplexy |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:95613 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... |
OMIM:202010 |
Galactosemia I |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Diarrhea, Elevated c... |
OMIM:230400 |
Pseudohypoaldosteronism Type 2 |
|
Hypertension |
ORPHA:757 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Positive regitine blocking test, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, C... |
ORPHA:29072 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Facial palsy, Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Feeding difficulties in infancy... |
OMIM:251880 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... |
OMIM:613027 |
Pontocerebellar Hypoplasia, Type 2E |
|
Facial telangiectasia |
OMIM:615851 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypertension, Elevated circulating alkaline phosphatase concentration, Elevated gamma-glutamyltra... |
OMIM:613095 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Prolonged neonatal jaundice |
OMIM:185000 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Elevated circulating aspartate aminotra... |
OMIM:614921 |
Von Hippel-Lindau Disease |
|
Papilledema, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic endocrine tumor, My... |
ORPHA:892 |
Proteus Syndrome |
|
Thymus hyperplasia, Decreased muscle mass, Sudden cardiac death, Pulmonary embolism, Splenomegaly... |
ORPHA:744 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, As... |
ORPHA:402075 |
Nodular Non-Suppurative Panniculitis |
|
Nausea and vomiting, Hepatomegaly, Abdominal pain, Splenomegaly, Erythema |
ORPHA:33577 |
Rhabdoid Tumor |
|
Hypertension, Internal hemorrhage |
ORPHA:69077 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypertension, Second degree atrioventricular block, Primary hyperaldosteronism, Pulmonary arteria... |
OMIM:615474 |
Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Decreased response to growth hormone stimulation test, Ray... |
ORPHA:1855 |
Serotonin Syndrome |
|
Tachycardia, Hypertension, Hypotension, Abnormality of the autonomic nervous system, Hepatic failure |
ORPHA:43116 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Short stature, Secundum atrial septal defect, Coarctation of aorta, Pe... |
OMIM:600987 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Growth delay, Intraute... |
OMIM:300514 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Cholestasis, Steator... |
ORPHA:79303 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Intestinal malrotation, Duodenal stenosis |
ORPHA:1759 |
Bloom Syndrome |
|
Poor appetite, Esophageal neoplasm, Telangiectasia, Gastroesophageal reflux, Recurrent gastroente... |
ORPHA:125 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Postnatal growth retardation, Short stature, Vascular dilatation, Cardiomegaly |
OMIM:613320 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Lower limb amyotrophy, Myocardial fibr... |
OMIM:300257 |
Monosomy 18P |
|
Hypertension, Hypothyroidism |
ORPHA:1598 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Telangiectasia of the skin, Abdominal pain, Erythema, Gastroesophageal ref... |
ORPHA:2092 |
Adenocarcinoma Of The Anal Canal |
|
Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Neoplasm of the rectum, Neoplasm of t... |
ORPHA:424016 |
Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Hepatomegaly, Petechiae |
OMIM:611490 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Malformation of the hepatic ductal pla... |
OMIM:208540 |
Methylcobalamin Deficiency Type Cble |
|
Hypertension, Hydrocephalus, Ventriculomegaly |
ORPHA:2169 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Hepatomegaly, Pericarditis, Abdominal pain |
ORPHA:85414 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypertension, Second degree atrioventricular block, Pulmonary arterial hypertension, Decreased li... |
OMIM:617021 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology |
OMIM:243000 |
Sifrim-Hitz-Weiss Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Coarctation of aorta, Atrial ... |
OMIM:617159 |
Arterial Tortuosity Syndrome |
|
Aortic regurgitation, Progeroid facial appearance, Hiatus hernia, Hypertension, Ischemic stroke, ... |
OMIM:208050 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Optic nerve hypoplasia, Lateral ventricle dilatation, Normal pressure hydrocephalus, Abnormal aut... |
ORPHA:300570 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypertension, Hypothyroidism |
OMIM:617763 |
Mucolipidosis Type Ii |
|
Aortic regurgitation, Abnormal atrioventricular valve physiology, Splenomegaly, Hepatosplenomegal... |
ORPHA:576 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Episodic abdominal pain, Cardiomyopathy, Arrhythmia,... |
ORPHA:228305 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Aganglionic megacolon, Ventriculomegaly |
OMIM:304100 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Subependymal cysts, Abnormal autonomic nervous system physiology, Optic neuropathy |
ORPHA:478029 |
Incontinentia Pigmenti |
|
Telangiectasia of the skin, Congestive heart failure, Erythema, Retinal hemorrhage, Cerebral isch... |
ORPHA:464 |
Sepsis In Premature Infants |
|
Abnormal bleeding, Hepatomegaly, Tachycardia, Cyanosis, Splenomegaly, Jaundice, Gastrointestinal ... |
ORPHA:90051 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Intrahepatic bile duct dil... |
OMIM:301068 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... |
OMIM:600460 |
Mast Cell Sarcoma |
|
Splenomegaly, Hepatomegaly |
ORPHA:66661 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abdominal pain, Myocarditis, Splenomeg... |
ORPHA:829 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E... |
OMIM:243150 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Dilated cardiomyopathy, Optic atrophy, Ventriculomegaly |
ORPHA:272 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Distal arthrogryposis |
ORPHA:42 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Atrial septal defect, Neonatal dea... |
OMIM:265380 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly |
ORPHA:99931 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Cyanosis, Elevated circulating alanine aminotransferase concentration, Increased he... |
OMIM:261680 |
Secondary Intestinal Lymphangiectasia |
|
Abdominal colic, Intestinal obstruction, Intestinal lymphedema, Right ventricular failure, Celiac... |
ORPHA:90363 |
Prader-Willi Syndrome |
|
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec... |
ORPHA:739 |
Septopreoptic Holoprosencephaly |
|
Ethmoidal encephalocele, Coarctation of aorta |
ORPHA:280195 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... |
ORPHA:95430 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Nausea and vomiting, Abdo... |
ORPHA:83469 |
Cold Agglutinin Disease |
|
Splenomegaly, Hepatomegaly, Diarrhea, Nausea and vomiting |
ORPHA:56425 |
Xq12-Q13.3 Duplication Syndrome |
|
Optic disc pallor, Decreased serum insulin-like growth factor 1, Low alkaline phosphatase, Ventri... |
ORPHA:314389 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous ... |
ORPHA:329971 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Cardiogenic shock, Dilated cardiomyo... |
OMIM:619424 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Feeding difficulties in infancy,... |
ORPHA:565 |
Joubert Syndrome 14 |
|
Hydrocephalus, Optic atrophy, Intracranial hemorrhage, Hypertension, Dandy-Walker malformation |
OMIM:614424 |
Postorgasmic Illness Syndrome |
|
Hypertension, Palpitations |
ORPHA:279947 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly, Mucosal telangiectasiae |
ORPHA:2463 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Optic atrophy, Ventriculomegaly |
OMIM:613151 |
Acrocardiofacial Syndrome |
|
Mitral stenosis, Ventricular septal defect, Camptodactyly of finger, Coarctation of aorta, Atrial... |
ORPHA:2008 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Abnormal autonomic nervous system physiology |
OMIM:300894 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Lead Poisoning |
|
Abnormality of the autonomic nervous system, Hypertension, Decreased circulating osteocalcin leve... |
ORPHA:330015 |
Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Bradycardia, Ascites, Petechiae |
OMIM:617397 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology |
OMIM:256800 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly |
OMIM:306000 |
C3 Glomerulopathy |
|
Hypertension |
ORPHA:329918 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Syncope, Tachycardia, Abnormal autonomic nervous system physiology |
ORPHA:71273 |
Refsum Disease, Classic |
|
Cardiomyopathy, Limb muscle weakness, Cardiomegaly |
OMIM:266500 |
Alexander Disease Type Ii |
|
Abnormal autonomic nervous system physiology |
ORPHA:363722 |
Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... |
ORPHA:449400 |
Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He... |
ORPHA:906 |
Rothmund-Thomson Syndrome Type 1 |
|
Diarrhea, Functional abnormality of the gastrointestinal tract, Facial erythema, Telangiectasia, ... |
ORPHA:221008 |
Acquired Generalized Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Abnormal cardiovascular system physiology,... |
ORPHA:79086 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Hepatocellular carcinoma, High-output congestive heart failure, Jaundice, Splenomeg... |
ORPHA:231222 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Telangiectasia of the skin, Erythema, Telangiectasia, Cutaneous phot... |
ORPHA:910 |
Hemorrhagic Fever-Renal Syndrome |
|
Elevated hepatic transaminase, Shock, Tachycardia, Epistaxis, Nausea, Abdominal pain, Hematemesis... |
ORPHA:340 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear... |
ORPHA:2209 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Papilledema, Premature thelarche, Atrioventricular block, Hypertension, Type I diabetes mellitus,... |
ORPHA:371428 |
Hallermann-Streiff Syndrome |
|
Hypertension, Pulmonary arterial hypertension, Telangiectasia |
OMIM:234100 |
49,Xxxyy Syndrome |
|
Increased circulating gonadotropin level, Primary gonadal insufficiency, Male hypogonadism, Decre... |
ORPHA:261534 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Elev... |
OMIM:616433 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Abdominal pain, Malabsorption, Diarrhea, Xerostomia, Hematochezia, Hamartomatous polypo... |
OMIM:175500 |
Mucopolysaccharidosis, Type Iiia |
|
Splenomegaly, Hepatomegaly, Diarrhea, Asymmetric septal hypertrophy |
OMIM:252900 |
Chédiak-Higashi Syndrome |
|
Edema, Pericardial effusion, Splenomegaly, Hepatosplenomegaly, Pleural effusion |
ORPHA:167 |
Denys-Drash Syndrome |
|
Hypertension |
ORPHA:220 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hypertension, Optic disc pallor, Portal hypertension |
OMIM:216360 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Poor wound healing, Congestive heart failure, Arterial rupture, Exce... |
OMIM:225400 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Abdominal pain, Congestive h... |
ORPHA:465508 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Achalasia, Telangiectasia of the skin |
OMIM:616007 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology |
OMIM:614575 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Hypertension, Optic atrophy, Ventriculomegaly |
OMIM:610965 |
Hereditary Acrokeratotic Poikiloderma |
|
Abnormality of the gastrointestinal tract, Telangiectasia of the skin, Erythema, Xerostomia, Urti... |
ORPHA:2907 |
Sick Sinus Syndrome 2 |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse |
OMIM:163800 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertension, Type II diabetes mellitus, Myocardial infarction |
OMIM:615812 |
Rothmund-Thomson Syndrome, Type 2 |
|
Premature graying of hair, Annular pancreas, Cutaneous photosensitivity, Telangiectasia |
OMIM:268400 |
Kindler Syndrome |
|
Esophageal stenosis, Telangiectasia of the skin, Dysphagia, Cutaneous photosensitivity, Fragile skin |
OMIM:173650 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... |
ORPHA:30391 |
Schimke Immunoosseous Dysplasia |
|
Transient ischemic attack, Elevated circulating thyroid-stimulating hormone concentration, Hypert... |
OMIM:242900 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate |
OMIM:607361 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Skeletal muscle atrophy, Pulmonic stenosis, Coarctation of aorta |
OMIM:614300 |
Loeys-Dietz Syndrome 4 |
|
Torticollis, Bicuspid aortic valve, Arterial tortuosity, Mitral valve prolapse, Ascending tubular... |
OMIM:614816 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Pituitary Adenoma 4, Acth-Secreting |
|
Hypertension, Pituitary adenoma, Increased circulating ACTH level |
OMIM:219090 |
Hereditary Mixed Polyposis Syndrome |
|
Abnormal bleeding, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, D... |
ORPHA:157794 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Vomiting |
OMIM:201450 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hypertension, Mitral regurgitation |
OMIM:173900 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Pedal edema, Atrial septal defect, Patent foram... |
ORPHA:439 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegaly, Splenomegaly, Hepatospleno... |
OMIM:608013 |
Pagod Syndrome |
|
Encephalocele, Short stature, Congenital diaphragmatic hernia, Spina bifida, Situs inversus total... |
ORPHA:991 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Contractures of ... |
ORPHA:324410 |
Melkersson-Rosenthal Syndrome |
|
Abnormal autonomic nervous system physiology, Facial palsy |
ORPHA:2483 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Congenital ... |
OMIM:600001 |
Yellow Fever |
|
Shock, Abnormal bleeding, Acute pancreatitis, Elevated circulating aspartate aminotransferase con... |
ORPHA:99829 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Pericardial effusion, Dilated cardiomyopathy, Pulmonary edema |
ORPHA:73224 |
Adenine Phosphoribosyltransferase Deficiency |
|
Hypertension, Atrial fibrillation, Abnormal circulating enzyme concentration or activity |
ORPHA:976 |
Mcleod Syndrome |
|
Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,... |
OMIM:300842 |
Bloom Syndrome |
|
Cutaneous photosensitivity, Hepatic steatosis, Facial erythema, Facial telangiectasia in butterfl... |
OMIM:210900 |
1P36 Deletion Syndrome |
|
Feeding difficulties in infancy, Abnormality of the spleen, Pyloric stenosis, Dilated cardiomyopa... |
ORPHA:1606 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Muscle fiber atrophy, Decreased muscle mass, Elbow flexion contracture, Limb muscle weakness, Mit... |
ORPHA:1900 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cholestatic liver disease, C... |
ORPHA:540 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Fragile skin, Telangiectases of the cheeks |
OMIM:616295 |
Bardet-Biedl Syndrome |
|
Hypertension, Hypoplasia of the ovary, Hypogonadism |
ORPHA:110 |
De Sanctis-Cacchione Syndrome |
|
Cutaneous photosensitivity, Telangiectasia |
OMIM:278800 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy, Camptodactyly of toe, Intrauterine growth retardation, Oligohydramnios |
ORPHA:158687 |
Martin-Probst Syndrome |
|
Telangiectasia |
OMIM:300519 |
Toriello-Carey Syndrome |
|
Short stature, Postnatal growth retardation, Patent ductus arteriosus, Coarctation of aorta, Card... |
ORPHA:3338 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Episodic hypertension |
OMIM:619483 |
Haddad Syndrome |
|
Aganglionic megacolon, Abnormal autonomic nervous system physiology |
ORPHA:99803 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Short stature, Ventricular septal defect, Rhizomelia, Coarctation of aorta, Growth delay, Severe ... |
OMIM:614114 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Diabetes mellitus, Hyperthyroidism, Hypothyroidism, Hypertension |
ORPHA:449291 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Cardiomegaly, Feeding difficulties in infancy, Elevated circulating alanine aminotr... |
ORPHA:308552 |
Cirrhosis, Familial |
|
Hypertension, Jaundice, Pulmonary arterial hypertension, Fulminant hepatitis |
OMIM:215600 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Subarachnoid hemorrhage, Cardiomegaly, Splenomegaly, Increased muscle glycogen cont... |
OMIM:232300 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Coarctation of aorta, ... |
OMIM:617602 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Diarrhea, Esophageal varix, Hepatocell... |
ORPHA:264580 |
Phace Syndrome |
|
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Microcephaly, Coarctation of aorta, ... |
ORPHA:42775 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hepatomegaly, Hypertrophic cardiomyopathy |
OMIM:619053 |
Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Pheochromocyto... |
OMIM:171300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Elevated circulating aspartate aminotransferase concentration, Hydrocephalus, O... |
OMIM:613154 |
Schimke Immuno-Osseous Dysplasia |
|
Transient ischemic attack, Abnormality of thyroid physiology, Congestive heart failure, Hypertens... |
ORPHA:1830 |
Cystic Echinococcosis |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal peritoneum morphology, Abdominal symptom, P... |
ORPHA:400 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormal autonomic nervous system p... |
ORPHA:99027 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Thoracic aortic aneurysm, Transient ischemic attack, Glycogen accumulation in muscl... |
ORPHA:365 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Abdominal pain, Diarrhea, Rectal prolapse, Multiple gastric polyps, Hema... |
OMIM:174900 |
Lowry-Maclean Syndrome |
|
Congenital diaphragmatic hernia, Coarctation of aorta, Growth delay, Intrauterine growth retardat... |
ORPHA:2409 |
Nephronophthisis 2 |
|
Hypertension, Pulmonary insufficiency |
OMIM:602088 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... |
OMIM:300967 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Conotruncal defect, Coarctation of aorta, Growth delay, Macroglossia, Abnormal cardiac septum mor... |
ORPHA:96147 |
Lymphangioleiomyomatosis |
|
Lymphedema, Chylopericardium, Chylothorax, Ascites, Pulmonary lymphangiomyomatosis |
ORPHA:538 |
Rift Valley Fever |
|
Elevated hepatic transaminase, Abnormal bleeding, Anorexia, Hematemesis, Jaundice, Retinal hemorr... |
ORPHA:319251 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Absent brainstem auditory responses, Optic atrophy, Hypertension, ... |
ORPHA:90321 |
Arteriosclerosis, Severe Juvenile |
|
Hypertension, Myocardial infarction, Delayed puberty |
OMIM:208060 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Fatal Familial Insomnia |
|
Abnormal autonomic nervous system physiology |
OMIM:600072 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, C... |
OMIM:264480 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Perianal erythema, Poor appetite, Splenomegaly, Diarrhea, Perioral erythema |
OMIM:201100 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Cyanosis, Ventricular tachycardia, Cardiomyopathy, H... |
ORPHA:159 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph... |
ORPHA:95699 |
Sickle Cell Disease |
|
Hepatomegaly, Cardiomegaly, Abdominal pain, Splenomegaly, Jaundice, Splenic infarction, Hypertens... |
OMIM:603903 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Mitral atresia, Congenital diaphragmatic hernia, Short stature, Double out... |
ORPHA:1596 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Aganglionic megacolon, Intestinal malrotation, Bowel incontinence, F... |
ORPHA:567 |
Meester-Loeys Syndrome |
|
Short stature, Mitral valve prolapse, Ascending tubular aorta aneurysm, Aortic root aneurysm, Dil... |
OMIM:300989 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Cardiomegaly, Proximal muscle weakness... |
ORPHA:268 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly |
OMIM:617967 |
Sandhoff Disease |
|
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Hepatosplenomegaly, Macroglossia, Cherry red... |
OMIM:268800 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tachycardia, Chemodectoma, Glomus ... |
OMIM:115310 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Telangiectasia of the skin, Enlarged kidney |
ORPHA:276280 |
Mosaic Variegated Aneuploidy Syndrome |
|
Short stature, Rhabdomyosarcoma, Polyhydramnios, Increased nuchal translucency, Coarctation of ao... |
ORPHA:1052 |
Ochoa Syndrome |
|
Hypertension |
ORPHA:2704 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Hypertension |
OMIM:618061 |
Beck-Fahrner Syndrome |
|
Facial hypotonia, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Tenorio Syndrome |
|
Raynaud phenomenon, Hydrocephalus, Syncope, Hypoinsulinemia, Ventriculomegaly |
OMIM:616260 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Atrioventricular canal defect, Dextrocardia, Coarctation of aorta |
OMIM:618929 |
Multiple System Atrophy 1, Susceptibility To |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology |
OMIM:146500 |
Fanconi Renotubular Syndrome 5 |
|
Hypertension |
OMIM:618913 |
Kabuki Syndrome 2 |
|
Short stature, Postnatal growth retardation, Coarctation of aorta, Pulmonic stenosis, Atrial sept... |
OMIM:300867 |
Mercury Poisoning |
|
Hypertension, Tachycardia, Hypotension |
ORPHA:330021 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Hypertension, Hepatic failure |
OMIM:619758 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Myocardial infarction, Congestive... |
ORPHA:183 |
Infant Botulism |
|
Hypertension, Cardiac arrest, Hypotension |
ORPHA:178478 |
Caudal Regression Syndrome |
|
Hypertension, Maternal diabetes |
ORPHA:3027 |
Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Short stature... |
ORPHA:580 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
Mogs-Cdg |
|
Hepatomegaly, Pulmonary edema, Edema, Cardiomegaly, Polyhydramnios, Hepatosplenomegaly, Atrial se... |
ORPHA:79330 |
Multiple Endocrine Neoplasia Type 2 |
|
Paraganglioma of head and neck, Aganglionic megacolon, Thyroid C cell hyperplasia, Primary hyperp... |
ORPHA:653 |
Rothmund-Thomson Syndrome |
|
Nasogastric tube feeding in infancy, Diarrhea, Telangiectasia of the skin, Vomiting |
ORPHA:2909 |
Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Cardiomegaly |
OMIM:618886 |
Monosomy 13Q34 |
|
Epistaxis, Hematochezia, Prolonged prothrombin time, Pulmonic stenosis, Hepatic steatosis |
ORPHA:96168 |
Gitelman Syndrome |
|
Pericardial effusion, Varicose veins, Rhabdomyolysis, Delayed puberty |
ORPHA:358 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Malabsorption, Splenomegaly, Pyloric stenosis, Tracheoesophageal fis... |
ORPHA:379 |
Alagille Syndrome 2 |
|
Hypertension, Pulmonic stenosis |
OMIM:610205 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Short stature, Congenital diaphragmatic hernia, Cardiomegaly, Rhizomelia, ... |
OMIM:245600 |
Alternating Hemiplegia Of Childhood |
|
Cardiac conduction abnormality, Cardiomyopathy, Abnormal autonomic nervous system physiology, Abn... |
ORPHA:2131 |
Scheie Syndrome |
|
Aortic regurgitation, Hepatomegaly, Splenomegaly |
ORPHA:93474 |
Atypical Werner Syndrome |
|
Prominent superficial veins, Telangiectasia of the skin, Prematurely aged appearance, Progeroid f... |
ORPHA:79474 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Hepatomegaly, Erythema |
OMIM:619183 |
Apert Syndrome |
|
Hypertension, Hydrocephalus, Optic atrophy, Ventriculomegaly |
ORPHA:87 |
Trisomy 20P |
|
Abnormal autonomic nervous system physiology |
ORPHA:261318 |
Oculoectodermal Syndrome |
|
Transient ischemic attack, Lymphedema, Patent ductus arteriosus, Coarctation of aorta, Growth del... |
OMIM:600268 |
Nephroblastoma |
|
Hypertension |
ORPHA:654 |
Immunodeficiency 47 |
|
Elevated hepatic transaminase, Hepatomegaly, Accessory spleen, Tricuspid regurgitation, Elevated ... |
OMIM:300972 |
Acute Transverse Myelitis |
|
Orthostatic hypotension, Subarachnoid hemorrhage, Hypertension, Abnormal autonomic nervous system... |
ORPHA:139417 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Raynaud phenomenon, Dilated cardiomyopathy, V... |
OMIM:615688 |
Fryns Syndrome |
|
Congenital diaphragmatic hernia, Polyhydramnios, Abnormal aortic arch morphology, Abnormal cardia... |
ORPHA:2059 |
Long Qt Syndrome 15 |
|
Left ventricular noncompaction |
OMIM:616249 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis |
OMIM:266200 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Tachycardia |
OMIM:229700 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hypertension, Hydrocephalus, Optic atrophy |
ORPHA:1555 |
Malignant Migrating Focal Seizures Of Infancy |
|
Aortopulmonary collateral arteries |
ORPHA:293181 |
Nestor-Guillermo Progeria Syndrome |
|
Decreased serum leptin, Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary ... |
OMIM:614008 |
Ramon Syndrome |
|
Angiokeratoma, Telangiectasia |
OMIM:266270 |
Coats Disease |
|
Retinal telangiectasia |
OMIM:300216 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Abnormal autonomic nervous system physiology, Aganglionic megacolon, Decreased heart rate variabi... |
OMIM:209880 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hepatomegaly, Skeletal muscle atrophy, Patent ductus arteriosus, Flexion contracture, Ragged-red ... |
ORPHA:17 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Polyhydramnios, Aort... |
OMIM:620025 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:256810 |
Opitz Gbbb Syndrome |
|
Enlarged ovaries, Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Pate... |
ORPHA:2745 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Severe short stature, Facial palsy, Coarctation of aorta, Aortic valve stenosis, Spina bifida occ... |
ORPHA:2780 |
Birk-Landau-Perez Syndrome |
|
Hypertension, Optic atrophy |
OMIM:617595 |
Isolated Ectopia Lentis |
|
Hypertension |
ORPHA:1885 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Polyhydramnios, Fetal ascites, Ascending aorta hypoplasia, Patent duct... |
ORPHA:141127 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... |
OMIM:613795 |
Neuroblastoma, Susceptibility To, 1 |
|
Hypertension, Horner syndrome |
OMIM:256700 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Antenatal intracerebral hemorrhage, Cardiomegaly, Dilated cardiomyopathy, Increased... |
OMIM:608836 |
Lambert-Eaton Myasthenic Syndrome |
|
Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunction |
ORPHA:43393 |
Aneurysm-Osteoarthritis Syndrome |
|
Camptodactyly of finger, Arterial tortuosity, Patent ductus arteriosus, Abnormal heart morphology... |
ORPHA:284984 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Patent ductus arteriosus, Mitral stenosis, Short stature, Coarctation of aorta |
OMIM:617260 |
Argininemia |
|
Hepatomegaly, Anorexia, Micronodular cirrhosis, Cholestasis, Portal fibrosis, Vomiting, Episodic ... |
OMIM:207800 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sh... |
ORPHA:217085 |
2Q37 Microdeletion Syndrome |
|
Umbilical hernia, Abnormal aortic morphology, Short stature, Congenital diaphragmatic hernia |
ORPHA:1001 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... |
ORPHA:31826 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hypertension, Hydrocephalus, Optic atrophy, Ventriculomegaly |
OMIM:123790 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis |
OMIM:194380 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Feeding difficulties, Retinal telangiectasia |
OMIM:620157 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimu... |
ORPHA:79443 |
Young-Onset Parkinson Disease |
|
Abnormal autonomic nervous system physiology |
ORPHA:2828 |
Cadds |
|
Elevated hepatic transaminase, Ventriculomegaly, Adrenal hypoplasia |
ORPHA:369942 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Abnormal autonomic nervous system physiology |
OMIM:616840 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Hypothyroidism, Abnormal autonomic nervous system physiology |
ORPHA:453499 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sh... |
ORPHA:217093 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hypertension, Hydrocephalus, Lateral ventricular asymmetry |
OMIM:616914 |
Tick-Borne Encephalitis |
|
Elevated hepatic transaminase, Facial palsy, Abnormal glossopharyngeal nerve morphology, Abnormal... |
ORPHA:297 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypertension, Delayed puberty |
ORPHA:251004 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Ventricular septal defect, Short stature, Polyhydramnios, Patent ductus arteriosus, Hypoplastic a... |
OMIM:617506 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Increased circulating lactate dehydrogenase concentration, Elev... |
ORPHA:466677 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypertension, Hyperaldosteronism, Increased circulating renin level |
OMIM:612780 |
Fg Syndrome Type 1 |
|
Progressive flexion contractures, Short stature, Mitral valve prolapse, Coarctation of aorta, Atr... |
ORPHA:93932 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Abnormal autonomic nervous system physiology, Abnormal cranial nerve morphology |
ORPHA:247234 |
Renal Hypodysplasia/Aplasia 1 |
|
Hypertension |
OMIM:191830 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hypertension, Delayed puberty |
OMIM:232200 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Vasculitis, Bloody diarrhea, Hematochezia, Subconjunctival hemorrhage, Inflammation of the large ... |
OMIM:617718 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Hypertension, Hypothyroidism |
ORPHA:98808 |
Gaisböck Syndrome |
|
Diabetes mellitus, Angina pectoris, Myocardial infarction, Hypovolemia, Elevated diastolic blood ... |
ORPHA:90041 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Multiple joint contractures, Cardiomegaly, Macroglossia, Umbilical hernia, Arthrogr... |
OMIM:618143 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Hypertension, Orthostatic hypotension, Tachycardia |
OMIM:223900 |
Sarcoidosis, Susceptibility To, 1 |
|
Pericardial effusion, Hepatomegaly, Pleural effusion, Splenomegaly |
OMIM:181000 |
Poliomyelitis |
|
Hypertension, Hypovolemic shock, Abnormal motor nerve conduction velocity, Hypotension |
ORPHA:2912 |
Stuve-Wiedemann Syndrome 1 |
|
Pulmonary arterial hypertension, Abnormal autonomic nervous system physiology |
OMIM:601559 |
Hurler Syndrome |
|
Angina pectoris, Hydrocephalus, Cardiomyopathy, Hypertension, Abnormal nerve conduction velocity |
ORPHA:93473 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypertension, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus |
OMIM:151660 |
Nmda Receptor Encephalitis |
|
Orthostatic hypotension, Orthostatic tachycardia, Neoplasm of the thymus, Abnormal autonomic nerv... |
ORPHA:217253 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Congenital adrenal hyperplasia, Ventriculomegaly, Increased serum testosterone level |
ORPHA:96181 |
Familial Dysautonomia |
|
Hypertension, Orthostatic hypotension, Optic atrophy, Tachycardia |
ORPHA:1764 |
Hereditary Spherocytosis |
|
Hepatomegaly, Restrictive cardiomyopathy, Abdominal pain, Splenomegaly, Jaundice, Abdominal diste... |
ORPHA:822 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Limb muscle weakness, Cardiomegaly |
OMIM:619259 |
Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Epistaxis, Hematemesis, Diarrhea, Chronic diarrhea, Large vessel vasculi... |
OMIM:301000 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage, Reduced circulating growth hormone concentration, Ventriculomegaly |
OMIM:616430 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Angina pectoris, Splenomegaly, Low-output congestive heart failure, Cardiomyopathy,... |
ORPHA:565612 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Abnormality of the liver, Supraventricular tachycardia, Abnormal bleedin... |
ORPHA:97214 |
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Coarctation of abdominal aorta, Cardiomyopathy, Endocardial fibroelastosis |
OMIM:226100 |
Carey-Fineman-Ziter Syndrome |
|
Ventriculomegaly, Facial palsy, Hypertensive crisis |
ORPHA:1358 |
Parkinson Disease, Late-Onset |
|
Abnormal autonomic nervous system physiology |
OMIM:168600 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Nausea, Abdominal pain, Abdominal distention, Jaundice, Diarrhea, Vomiting, Constip... |
ORPHA:469 |
Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Lymphedema, Atrial septal def... |
OMIM:300855 |
Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Cardiomegaly |
ORPHA:349 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
ORPHA:309854 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Aganglionic megacolon, Nephrogenic diabetes insipidus, Hypertension, Hypogonadism |
OMIM:209900 |
Giant Cell Arteritis |
|
Pericarditis, Vasculitis, Aortic dissection, Double outlet right ventricle with subpulmonary vent... |
ORPHA:397 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hypertension, Inf... |
OMIM:232220 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Elevated hepatic transaminase, Decreased response to growth hormone stimulation test, Central dia... |
ORPHA:293987 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Splenomegaly, Hepatomegaly, Jaundice |
OMIM:616689 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, C... |
ORPHA:137675 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
Cryoglobulinemia, Familial Mixed |
|
Hypertension |
OMIM:123550 |
Ramos-Arroyo Syndrome |
|
Aganglionic megacolon, Abnormal autonomic nervous system physiology |
ORPHA:1051 |
Turcot Syndrome With Polyposis |
|
Intestinal polyposis, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Desmoid tumors, He... |
ORPHA:99818 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Premature graying of hair, Intestinal bleeding, Gastrointestinal telangiectasia, Retinal telangie... |
OMIM:612199 |
Fucosidosis |
|
Hepatomegaly, Short stature, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia, Cherr... |
OMIM:230000 |
Galloway-Mowat Syndrome 3 |
|
Hypertension, Ventriculomegaly |
OMIM:617729 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Patent ductus arterios... |
OMIM:618454 |
Mosaic Trisomy 1 |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Polyhydramni... |
ORPHA:1692 |
Kleefstra Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Short stature, Pulmonary artery stenosis, Coarc... |
ORPHA:261494 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Macular telangiectasia, Retinal neovascularization |
ORPHA:891 |
Plague |
|
Abnormal bleeding, Hepatomegaly, Tachycardia, Anorexia, Abdominal pain, Hematemesis, Splenomegaly... |
ORPHA:707 |
Cockayne Syndrome A |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Hyperten... |
OMIM:216400 |
Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... |
ORPHA:1435 |
Cowden Syndrome |
|
Enlarged polycystic ovaries, Colorectal polyposis, Hamartomatous polyposis, Mucosal telangiectasiae |
ORPHA:201 |
Parkinsonian-Pyramidal Syndrome |
|
Abnormal autonomic nervous system physiology |
ORPHA:171695 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Abnormal bleeding, Hepatomegaly, Epistaxis, Diarrhea, Prolonged bleeding following procedure, Hep... |
ORPHA:79259 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Optic disc pallor, Optic atrophy, Shortened PR interval, Hyperten... |
OMIM:614947 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Abdominal pain, Splenomegaly, Peritonitis, Diarrhea, Episodic abdomin... |
OMIM:249100 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Palpebral edema, Diastasis recti, Cardiomegaly, Splenomegaly, Myelopathy, Growth de... |
OMIM:252500 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Congestive heart failure, Pulmonary carcinoid tumor, Intracranial hemorrhage, Hypertension, Mitra... |
ORPHA:363618 |
Familial Pseudohyperkalemia |
|
Hypertension |
ORPHA:90044 |
Porphyria, Acute Intermittent |
|
Hypertension, Tachycardia |
OMIM:176000 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Hepatic steatosis, Angina pectoris |
ORPHA:412 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Aortic dissection, Varicose veins, Pulmonic stenosis, Camptodactyly, Vascular dilatation |
OMIM:618343 |
Autosomal Recessive Robinow Syndrome |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Camptodactyly of finger, Abnormal... |
ORPHA:1507 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614120 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Short stature, Polyhydramnios, Splenomegaly, Patent ductus arteriosus, Coarctation ... |
OMIM:617088 |
Gabriele-De Vries Syndrome |
|
Facial hypotonia, Aortopulmonary collateral arteries, Distal arthrogryposis, Intrauterine growth ... |
OMIM:617557 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hepatomegaly, Aganglionic megacolon, Abdominal pain, Splenomegaly, Ileus, Premature graying of ha... |
ORPHA:163746 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Hydrocephalus, Small pituitary gland, Ventriculomegaly |
OMIM:614195 |
Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Postnatal growth retardation, Coarctat... |
OMIM:616145 |
Choreoacanthocytosis |
|
Elevated circulating aspartate aminotransferase concentration, Abnormal erythrocyte enzyme level,... |
ORPHA:2388 |
Homozygous Familial Hypercholesterolemia |
|
Precocious atherosclerosis, Abnormal internal carotid artery morphology, Tendon xanthomatosis, Pe... |
ORPHA:391665 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Palmar telangiectasia |
OMIM:607823 |
Beta-Ketothiolase Deficiency |
|
Hypertension, Hypotension |
ORPHA:134 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Type I diabetes mellitus, Hypothyroidism, Hepatitis, Ventriculomegaly |
OMIM:304790 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... |
OMIM:618748 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Skeletal muscle atrophy, Polyhydramnios, Patent ductus arteriosus, Aortic rupture, Myopathy, Type... |
OMIM:614557 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Hypertension, Elevated circulating alkaline phosphatase concentrat... |
ORPHA:84081 |
Geleophysic Dysplasia 2 |
|
Hepatomegaly, Tricuspid stenosis, Mitral regurgitation, Aortic valve stenosis, Pulmonary arterial... |
OMIM:614185 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Torticollis, Spina bifida, Patent ductus arteriosus, Coarctation of aorta, Unilateral facial pals... |
OMIM:619480 |
Acute Intermittent Porphyria |
|
Hypertension, Tachycardia, Abnormal circulating enzyme concentration or activity |
ORPHA:79276 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Short stature, Cardiomegaly, Calcification of the aorta, A... |
ORPHA:51 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Elevated hepatic transaminase, Congestive heart failure, Hepatic failure, Ventriculomegaly |
OMIM:619355 |
Alport Syndrome 2, Autosomal Recessive |
|
Hypertension |
OMIM:203780 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Type I diabetes mellitus, Ventriculomegaly, Sinus bradycardia |
OMIM:618397 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renovascular hypertension, Large vessel vasculitis, Hypertension, Budd-Chiari syndrome, Hashimoto... |
ORPHA:49041 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... |
OMIM:200995 |
Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Hypertension |
OMIM:301050 |
Leptospirosis |
|
Nausea and vomiting, Hepatomegaly, Pericarditis, First degree atrioventricular block, Anorexia, A... |
ORPHA:509 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hypertension |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hypertension |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hypertension |
OMIM:612926 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypertension, Hypertrophic cardiomyopathy, Arrhythmia |
OMIM:614052 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hypertension |
OMIM:612924 |
Immunodeficiency 87 And Autoimmunity |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Dilated cardiomyopathy, ... |
OMIM:619573 |
Encephalocraniocutaneous Lipomatosis |
|
Coarctation of aorta, Abnormal aortic morphology, Tricuspid valve prolapse, Interrupted aortic ar... |
ORPHA:2396 |
Marfan Syndrome |
|
Skeletal muscle atrophy, Mitral valve calcification, Descending aortic dissection, Meningocele, D... |
ORPHA:558 |
8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Feeding difficulties in infancy, Nasogastric tube feeding in infancy... |
ORPHA:508488 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Pancreatic fibrosis, Anorexia, Mala... |
OMIM:557000 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:98754 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hypertension |
OMIM:612925 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Abnormal circulating enzyme concentration or activity, Subdural hemo... |
ORPHA:25 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Tachycardia... |
ORPHA:348 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Ventricular septal defect, Shoulder muscle hypoplasia, Spina bifida,... |
OMIM:274000 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Truncus arteriosus, Bicuspid aortic valve, Ventricular septal defect, Facial palsy, Spina bifida,... |
ORPHA:508498 |
Marshall-Smith Syndrome |
|
Optic nerve hypoplasia, Hydrocephalus, Premature ventricular contraction, Hypertension, Pulmonary... |
OMIM:602535 |
Orofaciodigital Syndrome Vi |
|
Occipital meningocele, Hypoplastic left heart, Short stature, Coarctation of aorta |
OMIM:277170 |
Leprosy |
|
Abnormality of the seventh cranial nerve, Abnormality of the adrenal glands, Epistaxis, Abnormal ... |
ORPHA:548 |
Holoprosencephaly |
|
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphra... |
ORPHA:2162 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Hypertension, Pheochromocytoma, Parathyroid adenoma |
OMIM:162200 |
Neurofibroma |
|
Multiple intestinal neurofibromatosis, Intestinal bleeding, Abnormal biliary tract morphology |
ORPHA:252183 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia |
OMIM:614653 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:98793 |
Primary Progressive Freezing Gait |
|
Hypertension |
ORPHA:75567 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Limb hypertonia, Cardiomegaly |
OMIM:620306 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormal myocardium morphology, Cardiomyopathy, Hepatomegaly, Cardiomegaly |
ORPHA:228308 |
Tuberous Sclerosis Complex |
|
Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Noncommunicating hydrocep... |
ORPHA:805 |
Renal Hypoplasia, Bilateral |
|
Hypertension |
ORPHA:97362 |
Nephronophthisis 1 |
|
Hypertension |
OMIM:256100 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia, Umbilical hernia, Ab... |
ORPHA:581 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:177904 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Hydrops fetalis, Congenital diaphragmatic hernia, Coarctation of aorta |
ORPHA:268249 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:177901 |
Papillorenal Syndrome |
|
Hypertension, Optic disc coloboma |
OMIM:120330 |
Wagro Syndrome |
|
Hypertension |
OMIM:612469 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:99889 |
Bohring-Opitz Syndrome |
|
Facial hypotonia, Short stature, Cardiomegaly, Bilateral wrist flexion contracture, Congenital co... |
ORPHA:97297 |
Focal Dermal Hypoplasia |
|
Hiatus hernia, Intestinal malrotation, Telangiectasia |
OMIM:305600 |
Von Hippel-Lindau Syndrome |
|
Hypertension, Pheochromocytoma, Paraganglioma |
OMIM:193300 |
Cystic Fibrosis |
|
Hepatomegaly, Meconium ileus, Rectal prolapse, Diarrhea, Ileus, Biliary cirrhosis, Hepatosplenome... |
OMIM:219700 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Camptodactyly of finger, Splenomegaly, Patent ductus arteriosus, Large p... |
OMIM:249000 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Duodenal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Intestinal bleeding, Colon can... |
ORPHA:261584 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:207750 |
You-Hoover-Fong Syndrome |
|
Coarctation of aorta, Double aortic arch, Vascular ring |
OMIM:616954 |
Autosomal Dominant Polycystic Kidney Disease |
|
Hypertension, Pituitary growth hormone cell adenoma |
ORPHA:730 |
Robinow Syndrome |
|
Ventricular septal defect, Short stature, Coarctation of aorta, Abnormal heart morphology, Pulmon... |
ORPHA:97360 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Viral hepatitis, Abnormality of the peripheral nervous system, Raynaud pheno... |
ORPHA:48435 |
Hutchinson-Gilford Progeria Syndrome |
|
Aortic regurgitation, Female hypogonadism, Mitral stenosis, Decreased serum leptin, Angina pector... |
ORPHA:740 |
Oligomeganephronia |
|
Hypertension, Optic disc coloboma |
ORPHA:2260 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Right ventricular dilatation, At... |
OMIM:619472 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hypertension, Increased circulating lactate dehydrogenase concentration, Myocardial infarction |
ORPHA:90038 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Hypertension, Hypotension |
OMIM:174000 |
17Q11 Microdeletion Syndrome |
|
Telangiectasia of the skin, Gastrointestinal stroma tumor, Renovascular hypertension, Hypertensio... |
ORPHA:97685 |
Renal Hypoplasia |
|
Hypertension |
ORPHA:93101 |
Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Ventricular septal defect, Short stature, Coarctation of aorta |
OMIM:244450 |
Cockayne Syndrome B |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Hyperten... |
OMIM:133540 |
Au-Kline Syndrome |
|
Hypertension, Ventriculomegaly |
OMIM:616580 |
Noonan Syndrome 1 |
|
Ventricular septal defect, Short stature, Lymphedema, Postnatal growth retardation, Patent ductus... |
OMIM:163950 |
Cockayne Syndrome |
|
Elevated hepatic transaminase, Optic disc pallor, Diabetes mellitus, Decreased nerve conduction v... |
ORPHA:191 |
Somatomammotropinoma |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati... |
ORPHA:314769 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Growth delay, Short stature, Coarctation of aorta |
OMIM:163200 |
Jacobsen Syndrome |
|
Ventricular septal defect, Short stature, Spina bifida, Coarctation of aorta, Growth delay, Hypop... |
ORPHA:2308 |
Mucoepithelial Dysplasia, Hereditary |
|
Melena, Chronic diarrhea, Corneal neovascularization |
OMIM:158310 |
Myhre Syndrome |
|
Precocious puberty, Hypertension, Hypogonadism |
ORPHA:2588 |
Liver Disease, Severe Congenital |
|
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... |
OMIM:619991 |
Rabin-Pappas Syndrome |
|
Feeding difficulties, Retinal telangiectasia |
OMIM:620155 |
Acromegaly |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati... |
ORPHA:963 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Abnormality of the adrenal glands, Ventriculomegaly |
ORPHA:289483 |
Arima Syndrome |
|
Dilated fourth ventricle, Hypertension, Optic atrophy |
OMIM:243910 |
Xeroderma Pigmentosum, Complementation Group B |
|
Decreased nerve conduction velocity, Optic atrophy, Hypogonadism, Ventriculomegaly |
OMIM:610651 |
Scalp-Ear-Nipple Syndrome |
|
Type I diabetes mellitus, Hypertension |
ORPHA:2036 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Ventricular septal defect, Nonimmune hydrops fetalis, Short stature, Abnor... |
ORPHA:124 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hypertension |
OMIM:235400 |
Williams Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Periorbital edema, At... |
ORPHA:904 |
Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Hypertension, Diabetes mellitus, Hypertensive crisis |
ORPHA:544482 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Hepatomegaly, Anhidrotic ectodermal dysplasia, Splenomegaly, Chronic diarrhea, Recurrent infectio... |
OMIM:612132 |
Smith-Lemli-Opitz Syndrome |
|
Aganglionic megacolon, Precocious puberty, Hydrocephalus, Hypertension, Colpocephaly, Hypertrophi... |
OMIM:270400 |
Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Short stature, Coarctation of aorta, Small thenar ... |
OMIM:105650 |
Mullegama-Klein-Martinez Syndrome |
|
Short stature, Facial palsy, Congenital diaphragmatic hernia, Coarctation of aorta, Hypoplastic l... |
OMIM:301022 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Hypertension, Pulmonary arterial hypertension |
OMIM:613834 |
Rubinstein-Taybi Syndrome 1 |
|
Ventricular septal defect, Short stature, Polyhydramnios, Spina bifida, Postnatal growth retardat... |
OMIM:180849 |
Blau Syndrome |
|
Hypertension, Pericarditis, Abnormal cranial nerve morphology |
OMIM:186580 |
Scalp-Ear-Nipple Syndrome |
|
Supraventricular tachycardia, Hypertension, Lateral ventricle dilatation, Congestive heart failure |
OMIM:181270 |
Bartter Syndrome Type 4 |
|
Hypertension, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating ren... |
ORPHA:89938 |
Orofaciodigital Syndrome Type 1 |
|
Elevated hepatic transaminase, Hypertension, Dandy-Walker malformation |
ORPHA:2750 |
Stüve-Wiedemann Syndrome |
|
Hypothyroidism, Abnormal autonomic nervous system physiology, Ectopic thyroid |
ORPHA:3206 |
Posterior Urethral Valve |
|
Hypertension |
ORPHA:93110 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Prolonged QT interval, Elevated hepatic transaminase, High urinary gonadotropin level, Myocardial... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Prolonged QT interval, Elevated hepatic transaminase, High urinary gonadotropin level, Myocardial... |
ORPHA:99228 |
Monosomy X |
|
Prolonged QT interval, Elevated hepatic transaminase, High urinary gonadotropin level, Myocardial... |
ORPHA:99226 |
Turner Syndrome |
|
Prolonged QT interval, Elevated hepatic transaminase, High urinary gonadotropin level, Myocardial... |
ORPHA:881 |
Loeys-Dietz Syndrome |
|
Camptodactyly of finger, Arterial tortuosity, Patent ductus arteriosus, Aortic dissection, Arteri... |
ORPHA:60030 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Rhabdomyosarcoma, S... |
ORPHA:116 |
Adams-Oliver Syndrome 1 |
|
Hypertension, Pulmonic stenosis, Pulmonary arterial hypertension, Aortic valve stenosis, Ventricu... |
OMIM:100300 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Short stature, Patent ductus arteriosus, Vascul... |
ORPHA:353281 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Short stature, Polyhydramnios, Cardiomegaly, Postnatal growth retardat... |
ORPHA:3472 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... |
OMIM:201750 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hypertension, Ventriculomegaly |
OMIM:266920 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypertension, Pulmonary embolism |
ORPHA:567546 |
Nephronophthisis-Like Nephropathy 1 |
|
Hypertension |
OMIM:613159 |
Neurofibromatosis Type 1 |
|
Abnormality of the endocrine system, Precocious puberty, Hydrocephalus, Hypertension, Pheochromoc... |
ORPHA:636 |
Esophageal Atresia |
|
Ventricular septal defect, Polyhydramnios, Coarctation of aorta, Growth delay, Tetralogy of Fallot |
ORPHA:1199 |
Orofaciodigital Syndrome I |
|
Hypertension, Hydrocephalus |
OMIM:311200 |
Renal Agenesis |
|
Hypertension |
ORPHA:411709 |
Osteogenesis Imperfecta |
|
Abnormal endocardium morphology, Short stature, Rhizomelia, Cerebral hemorrhage, Flexion contract... |
ORPHA:666 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hypertension, Optic atrophy |
OMIM:617913 |
20Q13.33 Microdeletion Syndrome |
|
Hematochezia |
ORPHA:261311 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Short stature, Cardiomegaly, Aortic valve calcification, Pleural effu... |
OMIM:182250 |
Alport Syndrome 3A, Autosomal Dominant |
|
Hypertension |
OMIM:104200 |
Carney Complex |
|
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Elevated circulating growth hormone ... |
ORPHA:1359 |
Alkaptonuria |
|
Hypertension, Myocardial infarction |
ORPHA:56 |
Alport Syndrome |
|
Hypertension |
ORPHA:63 |
Lipodystrophy, Familial Partial, Type 7 |
|
Type I diabetes mellitus, Hypertension, Orthostatic hypotension, Pulmonary arterial hypertension |
OMIM:606721 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
OMIM:618278 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Myocardial infarction, Pulmonary embolism, Abnormal erythrocyte enzyme level, Jaundice, Hypertens... |
ORPHA:447 |
Marfan Syndrome |
|
Decreased muscle mass, Bicuspid aortic valve, Flexion contracture, Mitral annular calcification, ... |
OMIM:154700 |
Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Hypertension, Mitral regurgitation |
OMIM:611962 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Muscular ventricular se... |
OMIM:210710 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia... |
OMIM:130650 |
Autosomal Dominant Cutis Laxa |
|
Postnatal growth retardation, Dilatation of the ventricular cavity, Coarctation of aorta, Intraut... |
ORPHA:90348 |
Familial Osteodysplasia, Anderson Type |
|
Hypertension |
ORPHA:2769 |
Kabuki Syndrome |
|
Abnormal cardiac septum morphology, Short stature, Congenital diaphragmatic hernia, Coarctation o... |
ORPHA:2322 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Ventricular septal defect, Polyhydramnios, Short stature, Postnatal growth... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Ventricular septal defect, Polyhydramnios, Short stature, Postnatal growth... |
ORPHA:353277 |
Abetalipoproteinemia |
|
Hepatomegaly, Distal lower limb muscle weakness, Myopathy, Cardiomegaly |
ORPHA:14 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hypertension |
OMIM:613610 |
Alagille Syndrome 1 |
|
Ventricular septal defect, Coarctation of aorta, Stroke, Renal artery stenosis, Atrial septal def... |
OMIM:118450 |
Blomstrand Lethal Chondrodysplasia |
|
Rhizomelia, Polyhydramnios, Hydrops fetalis, Coarctation of aorta, Neonatal short-limb short stature |
ORPHA:50945 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Optic disc coloboma, Ventriculomegaly |
OMIM:120200 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Skeletal muscle atrophy, Short stature, Camptodactyly of finger, Cardiomegaly, Sple... |
OMIM:256040 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Patent ductus arteriosus, Muscular ventricular septal defect, Coarctation ... |
OMIM:612474 |
Neurooculorenal Syndrome |
|
Decreased circulating cortisol level, Ectopic posterior pituitary, Aqueductal stenosis, Decreased... |
OMIM:620305 |
Floating-Harbor Syndrome |
|
Short stature, Coarctation of aorta, Atrial septal defect, Umbilical hernia, Mesocardia, Persiste... |
OMIM:136140 |
Nicolaides-Baraitser Syndrome |
|
Short stature, Coarctation of aorta, Growth delay, Umbilical hernia, Mild short stature, Intraute... |
OMIM:601358 |
Denys-Drash Syndrome |
|
Hypertension |
OMIM:194080 |
Pmm2-Cdg |
|
Pericarditis, Multiple joint contractures, Lymphedema, Pericardial effusion, Intracranial hemorrh... |
ORPHA:79318 |
African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Papilledema, Abnormality of the endocrine system, Myocarditis, Conges... |
ORPHA:3385 |
Blau Syndrome |
|
Pericarditis, Facial palsy, Large vessel vasculitis, Hypertension, Pulmonary arterial hypertensio... |
ORPHA:90340 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Hypertension, Lateral ventricle dilatation |
OMIM:300896 |
Arteriovenous Malformations Of The Brain |
|
Cerebral arteriovenous malformation |
OMIM:108010 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Coarctation of aorta, Left ventricul... |
OMIM:220111 |
Igg4-Related Kidney Disease |
|
Pericarditis, Pedal edema, Abnormal aortic morphology, Arteritis, Enlarged kidney |
ORPHA:449395 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bicuspid aortic valve, Short stature, Coarctation of aorta, Delayed puberty, Muscle hypertrophy o... |
ORPHA:1772 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hematochezia, Chronic constipation, Feeding difficulties |
OMIM:619575 |
Pallister-Hall Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Coarctation of aorta, Intraut... |
ORPHA:672 |
Williams-Beuren Syndrome |
|
Diabetes mellitus, Portal hypertension, Early onset of sexual maturation, Hypertension, Mitral re... |
OMIM:194050 |
Ctcf-Related Neurodevelopmental Disorder |
|
Atrial septal defect, Patent ductus arteriosus, Joint contracture of the 5th finger, Coarctation ... |
ORPHA:363611 |
Pierson Syndrome |
|
Hypertension, Retinal hemorrhage |
OMIM:609049 |
Systemic Lupus Erythematosus |
|
Raynaud phenomenon, Hypertension |
ORPHA:536 |
Floating-Harbor Syndrome |
|
Short stature, Tetralogy of Fallot, Coarctation of aorta, Growth delay, Atrial septal defect, Mes... |
ORPHA:2044 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Hypertension, Aganglionic megacolon, Corneal neovascularization, Ventriculomegaly |
OMIM:308205 |
Kabuki Syndrome 1 |
|
Ventricular septal defect, Short stature, Postnatal growth retardation, Coarctation of aorta, Gro... |
OMIM:147920 |
Renal Dysplasia |
|
Hypertension |
ORPHA:93108 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Ventricular septal defect, Hypoplasia of facial musculature, Patent duct... |
OMIM:164210 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Scapular winging, Internal carotid artery dissection, Bicuspid aortic valve, Mild postnatal growt... |
OMIM:150230 |
Keutel Syndrome |
|
Hypertension, Pulmonic stenosis |
OMIM:245150 |
Pallister-Killian Syndrome |
|
Edema of the dorsum of feet, Ventricular septal defect, Rhizomelia, Congenital diaphragmatic hern... |
OMIM:601803 |
Mowat-Wilson Syndrome |
|
Bicuspid aortic valve, Pulmonary artery sling, Short stature, Patent ductus arteriosus, Flexion c... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Pulmonary artery sling, Ventricular septal defect, Abnormal pulmonary valv... |
ORPHA:261552 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bicuspid aortic valve, Pulmonary artery sling, Abnormal pulmonary valve morphology, Short stature... |
ORPHA:261537 |