Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastroesophageal reflux, Poor suck, Nausea and vomiting, Abnormal large intestine morphology, Poo... |
ORPHA:2198 |
Plasma Clot Retraction Factor, Deficiency Of |
|
Bruising susceptibility, Poor wound healing, Gastrointestinal hemorrhage |
OMIM:262800 |
Isolated Polycystic Liver Disease |
|
Gastroesophageal reflux, Abnormality of the pancreas, Feeding difficulties in infancy, Abdominal ... |
ORPHA:2924 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Malabsorption, Jaundice, Elevated hepatic transaminase, Abnormal bleeding, Biliary tra... |
ORPHA:79301 |
Telangiectasia, Hereditary Hemorrhagic, Type 5 |
|
Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia, Elevated hepatic transaminase |
OMIM:615506 |
Paragangliomas 6 |
|
Elevated circulating catecholamine level, Hypertension, Paraganglioma |
OMIM:618464 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy, Hepatomegaly |
ORPHA:79281 |
Familial Hypofibrinogenemia |
|
Epistaxis, Abnormal bleeding, Gingival bleeding, Gastrointestinal hemorrhage |
ORPHA:101041 |
Familial Dysfibrinogenemia |
|
Epistaxis, Abnormal bleeding, Gingival bleeding, Gastrointestinal hemorrhage |
ORPHA:98881 |
Porokeratosis 2, Palmar, Plantar, And Disseminated Type |
|
Palmar telangiectasia, Plantar telangiectasia |
OMIM:175850 |
Non-Involuting Congenital Hemangioma |
|
Subcutaneous calcification, Congestive heart failure, Prominent superficial veins, Hepatic hemang... |
ORPHA:141179 |
Factor Vii And Factor Viii, Combined Deficiency Of |
|
Intestinal bleeding |
OMIM:134430 |
Moyamoya Disease 1 |
|
Telangiectasia, Inflammatory arteriopathy |
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 |
|
Subcutaneous calcification, Congestive heart failure, Prominent superficial veins, Hepatic hemang... |
ORPHA:141184 |
Nephrosialidosis |
|
Pericardial effusion, Ascites, Bone-marrow foam cells |
OMIM:256150 |
Mastocytosis, Cutaneous |
|
Telangiectasia macularis eruptiva perstans, Erythema, Urticaria |
OMIM:154800 |
Congenital Factor V Deficiency |
|
Persistent bleeding after trauma, Post-partum hemorrhage, Intracranial hemorrhage, Bruising susce... |
ORPHA:326 |
Uv-Sensitive Syndrome 3 |
|
Cutaneous photosensitivity, Telangiectasia |
OMIM:614640 |
Immune Thrombocytopenia |
|
Cerebral hemorrhage, Petechiae, Purpura, Bruising susceptibility, Epistaxis, Gingival bleeding, G... |
ORPHA:3002 |
Budd-Chiari Syndrome |
|
Cirrhosis, Malabsorption, Jaundice, Peritonitis, Elevated hepatic transaminase, Abdominal pain, C... |
ORPHA:131 |
Capillary Malformation-Arteriovenous Malformation 2 |
|
Telangiectasia |
OMIM:618196 |
Familial Multiple Trichoepithelioma |
|
Telangiectasia of the skin |
ORPHA:867 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Nausea and vomiting, Jaundice, Abdominal pain, Acholic stools, Biliary tract abnormali... |
ORPHA:1414 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Premature graying of hair, Retinal telangiectasia, Gastrointestinal hemorrhage, Esophageal varix,... |
OMIM:617341 |
Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding after dental extraction, Bruising susceptibility |
OMIM:137560 |
Cerebral Cavernous Malformations 2 |
|
Telangiectasia, Cerebral hemorrhage |
OMIM:603284 |
Neuroendocrine Tumor Of The Rectum |
|
Hypotension, Bloody diarrhea, Facial telangiectasia, Abdominal pain, Elevated hepatic transaminas... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hypotension, Bloody diarrhea, Facial telangiectasia, Abdominal pain, Elevated hepatic transaminas... |
ORPHA:100082 |
Cutaneous Collagenous Vasculopathy |
|
Prominent superficial blood vessels, Petechiae, Bruising susceptibility, Erythema, Vascular skin ... |
ORPHA:280779 |
Neuroendocrine Tumor Of The Colon |
|
Hypotension, Bloody diarrhea, Facial telangiectasia, Abdominal pain, Elevated hepatic transaminas... |
ORPHA:100080 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Purpura, Epistaxis, Gingival bleeding, Gastrointestinal hemorrhage, Menorrhagi... |
OMIM:231200 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:294 |
Burkitt Lymphoma |
|
Abnormality of the pancreas, Abnormality of the liver, Nausea and vomiting, Abdominal pain, Intes... |
ORPHA:543 |
Dengue Fever |
|
Hypotension, Diarrhea, Cerebral hemorrhage, Petechiae, Nausea and vomiting, Abdominal pain, Bruis... |
ORPHA:99828 |
Congenital Factor X Deficiency |
|
Prolonged bleeding after surgery, Hemoperitoneum, Post-partum hemorrhage, Antepartum hemorrhage, ... |
ORPHA:328 |
Moyamoya Disease |
|
Telangiectasia |
ORPHA:2573 |
Telangiectasia, Hereditary Benign |
|
Diffuse telangiectasia |
OMIM:187260 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding |
OMIM:600195 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Myocardial infarction, Hypertension |
OMIM:608320 |
Familial Aortic Dissection |
|
Patent ductus arteriosus, Aortic root aneurysm, Cardiomegaly, Descending aortic dissection, Mucoi... |
ORPHA:229 |
Uv-Sensitive Syndrome 1 |
|
Cutaneous photosensitivity, Telangiectasia |
OMIM:600630 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Elevated circulating alanine aminotransferase concentration, Vomiting, Diarrhea, Elevated circula... |
OMIM:605911 |
Hemophilia A |
|
Intracranial hemorrhage, Splenic rupture, Bleeding with minor or no trauma, Oral cavity bleeding,... |
ORPHA:98878 |
Rombo Syndrome |
|
Facial telangiectasia |
OMIM:180730 |
Intracranial Hypertension, Idiopathic |
|
Papilledema, Hypertension |
OMIM:243200 |
Klippel-Trénaunay Syndrome |
|
Patent ductus arteriosus, Pulmonary embolism, Abnormality of the pulmonary artery, Atrial septal ... |
ORPHA:90308 |
Angioma, Hereditary Neurocutaneous |
|
Gastrointestinal hemorrhage |
OMIM:106070 |
Diffuse Cutaneous Mastocytosis |
|
Hypotension, Darier's sign, Vomiting, Abnormality of the liver, Diarrhea, Dermatographic urticari... |
ORPHA:79456 |
Capillary Malformation-Arteriovenous Malformation 1 |
|
Arteriovenous malformation, Arteriovenous fistula |
OMIM:608354 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Hypersplenism, Jaundice, Esophage... |
ORPHA:64743 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Recurrent aphthous stomatitis, Diarrhea, Vasculitis, Abdominal pain, Acrocyanosis, Purpura, Intes... |
ORPHA:343 |
Hemochromatosis, Type 1 |
|
Cirrhosis, Telangiectasia, Abdominal pain, Elevated hepatic transaminase, Hepatocellular carcinom... |
OMIM:235200 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Left ventricular hy... |
OMIM:613424 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:619874 |
Glanzmann Thrombasthenia |
|
Spontaneous, recurrent epistaxis, Purpura, Bruising susceptibility, Ecchymosis, Prolonged bleedin... |
ORPHA:849 |
Hereditary Hemorrhagic Telangiectasia |
|
Retinal telangiectasia, Subarachnoid hemorrhage, Pulmonary embolism, Transient ischemic attack, C... |
ORPHA:774 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Hypertension |
OMIM:166990 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Arterial Dissection-Lentiginosis Syndrome |
|
Arteriovenous malformation, Arterial dissection |
ORPHA:1682 |
Prothrombin Deficiency, Congenital |
|
Bruising susceptibility, Ecchymosis, Epistaxis, Gingival bleeding, Gastrointestinal hemorrhage, M... |
OMIM:613679 |
Congenital Factor Vii Deficiency |
|
Post-partum hemorrhage, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Gingival ble... |
ORPHA:327 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Retinal telangiectasia |
OMIM:267900 |
Cryoglobulinemic Vasculitis |
|
Abnormality of the liver, Petechiae, Abdominal pain, Purpura, Cutis marmorata, Viral hepatitis, H... |
ORPHA:91138 |
Distal Trisomy 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology, Short stature |
ORPHA:1705 |
Glanzmann Thrombasthenia 1 |
|
Purpura, Intracranial hemorrhage, Bruising susceptibility, Ecchymosis, Epistaxis, Subdural hemorr... |
OMIM:273800 |
Mpi-Cdg |
|
Hepatic fibrosis, Vomiting, Diarrhea, Protein-losing enteropathy, Gastrointestinal hemorrhage, He... |
ORPHA:79319 |
Vein Of Galen Aneurysmal Malformation |
|
Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology |
ORPHA:1053 |
Obesity Due To Sim1 Deficiency |
|
Hypotension, Abnormal autonomic nervous system physiology, Hyperinsulinemia, Postural hypotension... |
ORPHA:369873 |
Cutaneous Mastocytoma |
|
Hypotension, Telangiectasia macularis eruptiva perstans, Darier's sign, Vomiting, Diarrhea, Derma... |
ORPHA:79455 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arteriovenous malformation, Abnormal aortic arch morphology, Microcephaly, Overriding aorta, Intr... |
ORPHA:1110 |
Neuroendocrine Tumor Of Stomach |
|
Hypotension, Bloody diarrhea, Facial telangiectasia, Cardiogenic shock, Elevated hepatic transami... |
ORPHA:100075 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Oligohydramnios, Pleural effusion, Hypertrophic cardiomyopathy, Cardiomegal... |
OMIM:614702 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal hemorrhage, Telangiectasia, Punctate vasculitis skin lesions, Raynaud phenomenon, Elevate... |
OMIM:192315 |
Typhoid |
|
Diarrhea, Cardiac arrest, Abdominal pain, Epistaxis, Arrhythmia, Constipation, Gastrointestinal h... |
ORPHA:99745 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Petechiae, Purpura, Intracranial hemorrhage, Abnormal bleeding, Ecchymosis, Cephalohematoma, Gast... |
ORPHA:853 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomyopathy |
OMIM:609016 |
Transaldolase Deficiency |
|
Premature skin wrinkling, Cirrhosis, Telangiectasia, Hepatosplenomegaly |
ORPHA:101028 |
Leber Hereditary Optic Neuropathy, Autosomal Recessive |
|
Retinal telangiectasia |
OMIM:619382 |
Cerebral Arteriovenous Malformation |
|
Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology |
ORPHA:46724 |
Limited Cutaneous Systemic Sclerosis |
|
Pulmonary arterial hypertension, Gastroesophageal reflux, Mucosal telangiectasiae, Nausea and vom... |
ORPHA:220402 |
Cantu Syndrome |
|
Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Lymphedema, Pericardial effus... |
OMIM:239850 |
Polycythemia Vera |
|
Pulmonary embolism, Abdominal pain, Intermittent claudication, Angina pectoris, Bruising suscepti... |
ORPHA:729 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hypertrophic cardiomyopathy, Telangiectasia, Hepatomegaly, Telangiectasia of the skin |
ORPHA:79279 |
Congenital Factor Xi Deficiency |
|
Abnormal bleeding, Epistaxis, Menorrhagia, Gastrointestinal hemorrhage, Prolonged bleeding after ... |
ORPHA:329 |
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Hypertension, Cutis marmorata, Telangiectases producing 'marbled' skin |
OMIM:206570 |
Congenital Heart Defects, Multiple Types, 4 |
|
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
Left Ventricular Noncompaction 1 |
|
Patent ductus arteriosus, Ventricular septal defect, Left ventricular hypertrophy, Noncompaction ... |
OMIM:604169 |
Preeclampsia/Eclampsia 1 |
|
Elevated hepatic transaminase, Hypertension |
OMIM:189800 |
Pure Autonomic Failure |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Syncope, Abnormality of ci... |
ORPHA:441 |
Capillary Malformation-Arteriovenous Malformation |
|
Telangiectasia, Cerebral ischemia, Arteriovenous malformation, Cerebral arteriovenous malformatio... |
ORPHA:137667 |
Reynolds Syndrome |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Cirrhosis, Mucosal telangiectasiae, ... |
ORPHA:779 |
Blue Rubber Bleb Nevus |
|
Arteriovenous malformation, Intestinal bleeding, Microcytic anemia |
ORPHA:1059 |
Parkes Weber Syndrome |
|
Vascular dilatation, Bounding pulse, Lower limb muscle weakness, Arteriovenous malformation, Cere... |
ORPHA:90307 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Neonatal death, Abnormal cardiac septum morphology, Coarctation of aorta |
OMIM:601612 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cutaneous photosensitivity, Retinal telangiectasia, Telangiectasia of the skin |
ORPHA:438134 |
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency |
|
Abnormal neuron morphology, Ventriculomegaly |
ORPHA:329228 |
Wyburn-Mason Syndrome |
|
Vascular dilatation, Cerebral hemorrhage, Abnormal cerebral vascular morphology, Arteriovenous ma... |
ORPHA:53719 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Pulmonary arterial hypertension, Pulmonary hemorrhage, Telangiectasia, Ischemic stroke,... |
ORPHA:2038 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Sudden cardiac death, Type II diabetes mellitus, Myocardial infarction, Hypertension |
OMIM:610947 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Cyanosis, Hepatic arteriovenous malformation, Facial telangiectasia, Ischemic stroke, Spontaneous... |
OMIM:600376 |
Carcinoid Syndrome |
|
Episodic abdominal pain, Facial telangiectasia, Heart murmur, Nausea and vomiting, Hepatic necros... |
ORPHA:100093 |
Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Arteriovenous malformation, Intracranial hemorrhage, Venous insufficiency, Ar... |
ORPHA:624 |
Aorto-Ventricular Tunnel |
|
Aortic root aneurysm, Ventricular hypertrophy, Abnormal aortic morphology, Aorto-ventricular tunn... |
ORPHA:3400 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Restrictive cardiomyopathy, Pulmonary insufficiency, Portal vein hypoplasia, Portal artery hyperp... |
OMIM:619433 |
Congenital Pulmonary Veins Atresia Or Stenosis |
|
Hypertension |
ORPHA:3188 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Prolonged bleeding after surgery, Hemoperitoneum, Subcutaneous hemorrhage, Epidural hemorrhage, P... |
ORPHA:465 |
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A |
|
Hypotension, Abnormal autonomic nervous system physiology |
OMIM:156310 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce... |
OMIM:132900 |
Mastocytosis |
|
Hypotension, Diarrhea, Nausea and vomiting, Telangiectasia of the skin, Anorexia, Hepatomegaly, A... |
ORPHA:98292 |
Lymphatic Malformation 8 |
|
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge... |
OMIM:618773 |
Tricuspid Atresia |
|
Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, Atrial sept... |
ORPHA:1209 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of the liver, Hepatomegaly, Subcutaneous hemorrhage |
ORPHA:1980 |
Combined Deficiency Of Factor V And Factor Viii |
|
Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Prolonged bleeding following circumc... |
ORPHA:35909 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
Malignant Atrophic Papulosis |
|
Gastrointestinal infarctions, Constrictive pericarditis, Gastrointestinal hemorrhage |
OMIM:602248 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Esophageal varix, Portal hypertension, Splenomegaly |
OMIM:617068 |
Craniofaciofrontodigital Syndrome |
|
Patent ductus arteriosus, Polyhydramnios, Anomalous branches of internal carotid artery, Ventricu... |
ORPHA:363705 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension |
OMIM:605572 |
Von Willebrand Disease, Type 1 |
|
Persistent bleeding after trauma, Bruising susceptibility, Epistaxis, Gastrointestinal hemorrhage... |
OMIM:193400 |
Autoimmune Hepatitis |
|
Spider hemangioma, Cirrhosis, Fulminant hepatitis, Sclerosing cholangitis, Diffuse hepatic steato... |
ORPHA:2137 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Arteriovenous malformation, Congestive heart failure, Venous insufficiency |
ORPHA:137608 |
Severe Hemophilia A |
|
Prolonged bleeding after surgery, Persistent bleeding after trauma, Epidural hemorrhage, Intracra... |
ORPHA:169802 |
Adams-Oliver Syndrome |
|
Pulmonary arterial hypertension, Leukopenia, Encephalocele, Arteriovenous malformation, Abnormal ... |
ORPHA:974 |
Spinal Arteriovenous Metameric Syndrome |
|
Arteriovenous malformation, Congestive heart failure, Spinal arteriovenous malformation |
ORPHA:53721 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Hemophilia B |
|
Persistent bleeding after trauma, Abnormal bleeding, Gastrointestinal hemorrhage, Joint hemorrhage |
OMIM:306900 |
Hypoplastic Left Heart Syndrome 1 |
|
Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta |
OMIM:241550 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Cyanosis, Hepatic arteriovenous malformation, Ischemic stroke, Spontaneous, recurrent epistaxis, ... |
OMIM:187300 |
Coproporphyria, Hereditary |
|
Cutaneous photosensitivity, Splenomegaly, Vomiting, Diarrhea, Jaundice, Abdominal pain, Hypertens... |
OMIM:121300 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncomp... |
OMIM:612158 |
Moderate Hemophilia A |
|
Subcutaneous hemorrhage, Epidural hemorrhage, Abnormal bleeding, Intracranial hemorrhage, Bleedin... |
ORPHA:169805 |
Ganglioneuroma |
|
Episodic abdominal pain, Colorectal polyposis, Multiple intestinal neurofibromatosis, Hypertensio... |
ORPHA:251992 |
Polymyositis |
|
Gastroesophageal reflux, Abnormal atrioventricular conduction, Abdominal pain, Congestive heart f... |
ORPHA:732 |
Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Petechiae, Hepatocellular carcinoma, Elevated hepatic ... |
OMIM:619463 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Myofiber disarray, Pulmonary edema, Pericardial effusion, Transient isch... |
OMIM:115197 |
Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Stomach cancer, Vomiting, Enlarged polycystic ovaries, Abnormality of ... |
ORPHA:2869 |
Ménétrier Disease |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Stomach cancer, Vomiting, Diarrhea, ... |
ORPHA:2494 |
Angiokeratoma Corporis Diffusum With Arteriovenous Fistulas |
|
Arteriovenous fistula |
OMIM:600419 |
Afibrinogenemia, Congenital |
|
Epidural hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Bruising susceptibilit... |
OMIM:202400 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Patent ductus arteriosus, Ventricular septal defect, Abnormal mitral valve morphology, Levotransp... |
ORPHA:860 |
Polycythemia Vera |
|
Cerebral ischemia, Cerebral hemorrhage, Gastrointestinal hemorrhage, Splenomegaly, Budd-Chiari sy... |
OMIM:263300 |
Aorta Coarctation |
|
Patent ductus arteriosus, Aortic valve atresia, Perimembranous ventricular septal defect, Interru... |
ORPHA:1457 |
Congenital Pulmonary Lymphangiectasia |
|
Hydrops fetalis, Pulmonic stenosis, Chylopericardium, Pleural effusion, Growth delay, Hepatomegal... |
ORPHA:2414 |
Hydrops Fetalis |
|
Polyhydramnios, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Ab... |
ORPHA:1041 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypertension |
ORPHA:71529 |
Wild Type Abeta2M Amyloidosis |
|
Congestive heart failure, Arrhythmia, Abnormal intestine morphology, Gastrointestinal hemorrhage,... |
ORPHA:85446 |
Systemic Primary Carnitine Deficiency |
|
Vomiting, Elevated hepatic transaminase, Hepatomegaly |
ORPHA:158 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the stomach, Abnormality of the liver, Neoplasm of the gastrointestinal tract, Nausea... |
ORPHA:44890 |
Riboflavin Transporter Deficiency |
|
Diabetes insipidus, Hypogonadism, Abnormal autonomic nervous system physiology, Hypertension, Abn... |
ORPHA:97229 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Vomiting, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Splen... |
OMIM:614480 |
Acquired Von Willebrand Syndrome |
|
Hypotension, Persistent bleeding after trauma, Subcutaneous hemorrhage, Intracranial hemorrhage, ... |
ORPHA:99147 |
Lymphatic Malformation 7 |
|
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial septal defec... |
OMIM:617300 |
Periodic Fever, Familial, Autosomal Dominant |
|
Vomiting, Chronic constipation, Abdominal pain, Gastrointestinal hemorrhage, Chronic diarrhea, He... |
OMIM:142680 |
Bernard-Soulier Syndrome |
|
Petechiae, Spontaneous, recurrent epistaxis, Abnormal bleeding, Bruising susceptibility, Gingival... |
ORPHA:274 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
Transient ischemic attack, Lacunar stroke, Hypertension |
OMIM:616779 |
Episodic Pain Syndrome, Familial, 3 |
|
Abnormal autonomic nervous system physiology |
OMIM:615552 |
Aggressive Systemic Mastocytosis |
|
Hypotension, Diarrhea, Malabsorption, Hypersplenism, Abdominal pain, Abdominal cramps, Hepatosple... |
ORPHA:98850 |
Transaldolase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Telangiectasia, Poor suck, Hepatosplenomegaly, Micronodular cirrhosi... |
OMIM:606003 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Heart murmur, Elevated jugular venous pressure, Syncope, Palpita... |
ORPHA:422 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial... |
OMIM:601493 |
Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... |
ORPHA:555874 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Retinal hemorrhage, Bloody diarrhea, Vitreous hemorrhage, Abnormality of the liver, Morphological... |
ORPHA:464321 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Intermittent jaundice, Episodic abdominal pain, Facial telangiectasia, Diarrhea, Heart murmur, Ne... |
ORPHA:100085 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Arteriovenous malformation, Telangiectasia of the skin, Cerebral ischemia, Arrhythmia |
ORPHA:60040 |
Polycystic Kidney Disease 7 |
|
Hypertension |
OMIM:620056 |
Bronchial Neuroendocrine Tumor |
|
Hypotension, Hepatic failure, Facial telangiectasia, Poor appetite, Cardiogenic shock, Dermatolog... |
ORPHA:97287 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Congestive heart failure, Hypertension, Myocardial infarction |
OMIM:615703 |
Dural Sinus Malformation |
|
Cerebellar hemorrhage, Hypoplasia of the frontal lobes, Cerebral edema, Vascular dilatation, Cere... |
ORPHA:97339 |
Preeclampsia |
|
Elevated systolic blood pressure, Elevated hepatic transaminase, Hypertension, Type I diabetes me... |
ORPHA:275555 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Livedo, Telangiectases of the cheeks |
OMIM:615139 |
Ataxia-Telangiectasia |
|
Mucosal telangiectasiae, Premature graying of hair, Elevated hepatic transaminase, Telangiectasia... |
ORPHA:100 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Diarrhea... |
OMIM:613812 |
Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Congestive heart failure, Hepatomegal... |
OMIM:613313 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Polyhydramnios, Limb hypertonia, Short stature, Pericardial effusion, Aortic aneurysm, Atrial sep... |
OMIM:620070 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
Atrial Septal Defect 4 |
|
Patent foramen ovale, Atrial septal defect, Coarctation of aorta |
OMIM:611363 |
Tempi Syndrome |
|
Facial erythema, Ascites, Telangiectasia, Intracranial hemorrhage |
ORPHA:284227 |
Meckel Syndrome, Type 8 |
|
Pericardial effusion, Enlarged kidney, Occipital encephalocele, Encephalocele |
OMIM:613885 |
Phakomatosis Pigmentovascularis |
|
Arteriovenous malformation, Cerebral cortical atrophy, Cerebral calcification |
ORPHA:2875 |
Congenital Disorder Of Glycosylation, Type Il |
|
Abnormal cardiac septum morphology, Pericardial effusion, Hepatosplenomegaly, Edema, Hepatomegaly... |
OMIM:608776 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Telangiectasia, Elevated hepatic transaminase, Splenomegaly, Hepatomegaly |
OMIM:608799 |
Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:613642 |
Hyperaldosteronism, Familial, Type Iv |
|
Hyperaldosteronism, Hypertension |
OMIM:617027 |
Plin1-Related Familial Partial Lipodystrophy |
|
Abnormal circulating hormone concentration, Hyperinsulinemia, Hypertension, Insulin-resistant dia... |
ORPHA:280356 |
Pelizaeus-Merzbacher Disease |
|
Arteriovenous malformation, Cerebral cortical atrophy, Microcephaly, Short stature |
ORPHA:702 |
Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Abnormal EKG, Abnormal autonomic nervous sy... |
ORPHA:330001 |
Microscopic Polyangiitis |
|
Diarrhea, Subcutaneous hemorrhage, Nausea and vomiting, Abdominal pain, Congestive heart failure,... |
ORPHA:727 |
Ppoma |
|
Intermittent jaundice, Diarrhea, Neoplasm of the pancreas, Intestinal obstruction, Hepatomegaly, ... |
ORPHA:97278 |
Autosomal Dominant Coarctation Of Aorta |
|
Patent ductus arteriosus, Aortic arch aneurysm, Ventricular septal defect, Abnormal aortic arch m... |
ORPHA:1455 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Hypertension |
ORPHA:2820 |
Propionic Acidemia |
|
Cardiomyopathy, Constipation, Hepatomegaly, Arrhythmia |
ORPHA:35 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastroesophageal reflux, Intestinal perforation, Vomiting, Diarrhea, Petechiae, Abnormality of th... |
ORPHA:85450 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Diabetes mellitus, Hyperinsulinemia, Hypertension |
ORPHA:79084 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly |
OMIM:610293 |
Leber Hereditary Optic Neuropathy |
|
Arrhythmia, Ventricular preexcitation, Retinal telangiectasia |
ORPHA:104 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Feeding difficulties in infancy, Jaundice, Elevated circulating aspartate aminotransferase concen... |
OMIM:614876 |
Xeroderma Pigmentosum Variant |
|
Cutaneous photosensitivity, Telangiectasia |
ORPHA:90342 |
Ebola Hemorrhagic Fever |
|
Vomiting, Diarrhea, Poor appetite, Hepatitis, Abdominal pain, Abnormal bleeding, Acute pancreatit... |
ORPHA:319218 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly |
ORPHA:882 |
Galactose Epimerase Deficiency |
|
Nausea and vomiting, Jaundice, Hepatomegaly, Feeding difficulties, Splenomegaly |
ORPHA:79238 |
Maternally-Inherited Diabetes And Deafness |
|
Type II diabetes mellitus, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, A... |
ORPHA:225 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Diarrhea, Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obl... |
OMIM:619849 |
Bleeding Disorder, Platelet-Type, 17 |
|
Petechiae, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Epistaxis, Prolonged bleeding ... |
OMIM:187900 |
Waldenström Macroglobulinemia |
|
Retinal hemorrhage, Diarrhea, Malabsorption, Vasculitis, Purpura, Congestive heart failure, Cutis... |
ORPHA:33226 |
Bleeding Disorder, Platelet-Type, 12 |
|
Bruising susceptibility, Epistaxis, Intestinal bleeding, Menorrhagia, Joint hemorrhage |
OMIM:605735 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:616501 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Abnormal auton... |
ORPHA:101016 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Hepat... |
OMIM:615381 |
Orthostatic Intolerance |
|
Orthostatic tachycardia |
OMIM:604715 |
Pulmonary Hypertension, Primary, 1 |
|
Pulmonary arterial hypertension, Telangiectasia, Hypertension, Increased pulmonary vascular resis... |
OMIM:178600 |
Pituitary Adenoma 1, Multiple Types |
|
Increased circulating prolactin concentration, Pituitary adenoma, Prolactinoma, Hypertension, Inc... |
OMIM:102200 |
Acrogeria |
|
Excessive wrinkled skin, Prematurely aged appearance, Telangiectasia of the skin |
ORPHA:2500 |
Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Splenomegaly, Hepatomegaly |
OMIM:607685 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Cutaneous photosensitivity, Telangiectasia, Esophageal stricture, Fragile skin, Erythema |
ORPHA:158673 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Nodular regenerative hyperplasia of liver, Telangiectasia, Punctate vasculitis skin lesions, Rayn... |
ORPHA:247691 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatic failure, Fulminant hepatitis, Poor appetite, Jaundice, Elevated hepatic transaminase, Gin... |
OMIM:618549 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Abnormal autonomic nervous system physiology, Atrioventricular block, Arrhythmia |
ORPHA:85447 |
Sandhoff Disease |
|
Splenomegaly, Congestive heart failure, Hepatomegaly |
ORPHA:796 |
Malignant Atrophic Papulosis |
|
Intestinal fistula, Intestinal perforation, Ischemic stroke, Nausea and vomiting, Abdominal pain,... |
ORPHA:679 |
Familial Cervical Artery Dissection |
|
Cerebral ischemia, Transient ischemic attack, Facial palsy, Hypertension, Diabetes mellitus, Suba... |
ORPHA:36382 |
Melorheostosis |
|
Skeletal muscle atrophy, Peripheral arteriovenous fistula |
ORPHA:2485 |
Paragangliomas 3 |
|
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Elevated circulating catecho... |
OMIM:605373 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
ORPHA:228190 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Venous varicosities of celiac and mesenteric vessels, Dilatation of mesenteric artery, Palate tel... |
OMIM:610655 |
Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Abnormal au... |
ORPHA:85451 |
Hyperaldosteronism, Familial, Type I |
|
Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level, Hypertension, Adre... |
OMIM:103900 |
Desmoid Tumor |
|
Malabsorption, Abdominal pain, Intestinal polyposis, Intestinal obstruction, Gastrointestinal hem... |
ORPHA:873 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertension, Diabetes mellitus, Abnorm... |
OMIM:540000 |
Reynolds Syndrome |
|
Biliary cirrhosis, Jaundice, Raynaud phenomenon, Elevated hepatic transaminase, Steatorrhea, Chol... |
OMIM:613471 |
Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Hepatic arteriovenous malformation, Telangiectasia, Gastrointestinal carcinoma, Epistaxis, Juveni... |
OMIM:175050 |
Scleroderma, Familial Progressive |
|
Telangiectasia, Abnormal abdomen morphology |
OMIM:181750 |
Dysautonomia-Like Disorder |
|
Abnormal autonomic nervous system physiology |
OMIM:224000 |
Necrobiosis Lipoidica |
|
Fragile skin, Erythema, Telangiectasia of the skin |
ORPHA:542592 |
Foix-Alajouanine Syndrome |
|
Lower limb muscle weakness, Distal lower limb amyotrophy, Arteriovenous fistula, Venous malformat... |
ORPHA:79093 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion |
OMIM:614684 |
Hemochromatosis, Type 2A |
|
Cirrhosis, Dilated cardiomyopathy, Congestive heart failure, Hepatomegaly, Arrhythmia, Splenomega... |
OMIM:602390 |
Hyperaldosteronism, Familial, Type Ii |
|
Hyperaldosteronism, Hypertension |
OMIM:605635 |
Prolidase Deficiency |
|
Petechiae, Elevated circulating aspartate aminotransferase concentration, Hepatomegaly, Prolonged... |
OMIM:170100 |
Al Amyloidosis |
|
Abnormality of the liver, Dysphagia, Reduced left ventricular ejection fraction, Abnormal EKG, Ab... |
ORPHA:85443 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Perimembranous ventricular septal defect, Atrial septal defect, Oligohydramnios, Hypertrophic car... |
OMIM:620135 |
Immunodeficiency 104 |
|
Diarrhea, Gastroesophageal reflux, Splenomegaly, Hepatomegaly |
OMIM:608971 |
Partington Syndrome |
|
Facial telangiectasia |
ORPHA:94083 |
Truncus Arteriosus |
|
Truncus arteriosus, Pulmonary artery stenosis, Ventricular septal defect, Interrupted aortic arch... |
ORPHA:3384 |
Cholesteryl Ester Storage Disease |
|
Hepatic failure, Cirrhosis, Diarrhea, Nausea and vomiting, Jaundice, Hepatomegaly, Esophageal var... |
ORPHA:75234 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Fixed Subaortic Stenosis |
|
Patent ductus arteriosus, Atrioventricular canal defect, Ascending tubular aorta aneurysm, Bacter... |
ORPHA:3092 |
Glutaric Aciduria Iii |
|
Reduced peroxisomal glutaryl-CoA oxidase activity, Hyperthyroidism, Hypertension, Goiter |
OMIM:231690 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Short stature, Arteriovenous malformation, Macrocephaly, Aortic aneurysm, Intracranial hemorrhage... |
ORPHA:109 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the liver, Abdominal pain, Neoplasm of the rectum, Intestinal bleeding, Anal canal sq... |
ORPHA:424019 |
Cutis Marmorata Telangiectatica Congenita |
|
Patent ductus arteriosus, Telangiectasia of the skin, Arteriovenous malformation, Arterial stenosis |
ORPHA:1556 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Telangiectasia |
ORPHA:459033 |
Hypocomplementemic Urticarial Vasculitis |
|
Angioedema, Small vessel vasculitis, Pericardial effusion, Abnormal heart valve morphology, Pleur... |
ORPHA:36412 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:46532 |
Lessel-Kubisch Syndrome |
|
Hypertension, Hypogonadism |
OMIM:618681 |
Somatostatinoma |
|
Intermittent jaundice, Episodic abdominal pain, Extrahepatic cholestasis, Diarrhea, Poor appetite... |
ORPHA:97283 |
Familial Atrial Myxoma |
|
Pedal edema, Bacterial endocarditis, Vascular dilatation, Pulmonic valve myxoma, Cardiac myxoma, ... |
ORPHA:615 |
Wolfram Syndrome, Mitochondrial Form |
|
Diabetes insipidus, Abnormal autonomic nervous system physiology, Diabetes mellitus, Optic atrophy |
OMIM:598500 |
Neuraminidase Deficiency |
|
Hydrops fetalis, Short stature, Skeletal muscle atrophy, Bone-marrow foam cells, Hepatomegaly, Ca... |
OMIM:256550 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Cirrhosis, Diarrhea, Malabsorption, Jaundice, Elevated hepatic transaminase, Portal inflammation,... |
OMIM:602347 |
Persistent Idiopathic Facial Pain |
|
Abnormal autonomic nervous system physiology |
ORPHA:398147 |
Paragangliomas 1 |
|
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Elevated circulating catecho... |
OMIM:168000 |
Grfoma |
|
Intermittent jaundice, Diarrhea, Neoplasm of the pancreas, Intestinal obstruction, Hepatomegaly, ... |
ORPHA:97261 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:617228 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Livedo, Telangiectasia, Facial telangiectasia |
OMIM:614564 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Pericardial effusion, Hypertrophic cardiomyopathy, Persistent left sup... |
OMIM:618775 |
Multiple System Atrophy |
|
Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiolog... |
ORPHA:102 |
Congenital Sialidosis Type 2 |
|
Telangiectasia, Petechiae, Abnormal EKG, Hepatosplenomegaly, Hepatomegaly, Ascites |
ORPHA:93400 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Bruising susceptibility, Arrhythmia |
ORPHA:230839 |
Melorheostosis With Osteopoikilosis |
|
Hypertension |
ORPHA:1879 |
Mucopolysaccharidosis Type 7 |
|
Arteriovenous malformation, Splenomegaly, Umbilical hernia |
ORPHA:584 |
Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Internally nucleated skelet... |
OMIM:618654 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Currarino Syndrome |
|
Arteriovenous malformation |
ORPHA:1552 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Malabsorption, Jaundice, Elevated hepatic transaminase, Neonatal cholestatic liver dis... |
OMIM:214900 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Gastric adenocarcinoma, Abdominal pain, Fundic gland polyposis, Melena |
OMIM:619182 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormal aortic morphology, Ventricular septal defect, Short stature, Abnormality of the pulmonar... |
ORPHA:1166 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level |
OMIM:605115 |
Juvenile Dermatomyositis |
|
Cutaneous photosensitivity, Dysphagia, Mucosal telangiectasiae, Bundle branch block, Telangiectas... |
ORPHA:93672 |
Glucocorticoid Resistance, Generalized |
|
Increased serum testosterone level, Increased circulating cortisol level, Increased circulating A... |
OMIM:615962 |
Trimethylaminuria |
|
Tachycardia, Hypertension |
OMIM:602079 |
Galactosemia Iii |
|
Jaundice, Vomiting, Splenomegaly, Hepatomegaly |
OMIM:230350 |
Timothy Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Tetralog... |
OMIM:601005 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Complete atrioventricula... |
OMIM:217095 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated circulating aspar... |
OMIM:620010 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Petechiae, Gastrointestinal hemorrhage, Hepatomegaly, Urticaria, Splenomegaly, Vasculitis |
OMIM:603909 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic failure, Hepatic fibrosis, Jaundice, Elevated hepatic transaminase, Portal fibrosis, Hepa... |
OMIM:616278 |
Lig4 Syndrome |
|
Cutaneous photosensitivity, Malabsorption, Telangiectasia of the skin, Erythema, Hepatomegaly |
ORPHA:99812 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Cardiac-Urogenital Syndrome |
|
Patent ductus arteriosus, Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlar... |
OMIM:618280 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Hypoplastic pulmonary veins, Ventricular septal defect, Secundum a... |
OMIM:613854 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:615158 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatic failure, Fat malabsorption, Elevated hepatic transaminase, Elevated circulating aspartate... |
OMIM:214950 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatitis, Jaundice, Hepatic failure, Hepatomegaly |
ORPHA:60 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Abnormal aortic morphology, Intrauterine growth retardation, Truncus arteriosus, Ventricular sept... |
ORPHA:2516 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615373 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatic failure, Jaundice, Elevated hepatic transaminase, Abdominal distention, Cholestasis, Hepa... |
OMIM:618528 |
Diffuse Cutaneous Systemic Sclerosis |
|
Pulmonary arterial hypertension, Gastroesophageal reflux, Nausea and vomiting, Malabsorption, Tel... |
ORPHA:220393 |
Tyrosinemia, Type I |
|
Cirrhosis, Hepatic failure, Enlarged kidney, Paralytic ileus, Elevated hepatic transaminase, Hepa... |
OMIM:276700 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ventricular septal defect, Joint contracture of the hand, Lymphedema, Pericardial effusion, Thyro... |
OMIM:235510 |
Mixed Connective Tissue Disease |
|
Pulmonary arterial hypertension, Gastroesophageal reflux, Purpura, Pericarditis, Gastritis, Xeros... |
ORPHA:809 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
OMIM:604381 |
Schöpf-Schulz-Passarge Syndrome |
|
Ectodermal dysplasia, Facial telangiectasia |
ORPHA:50944 |
Primary Sclerosing Cholangitis |
|
Spider hemangioma, Cholangiocarcinoma, Elevated hepatic transaminase, Hepatocellular carcinoma, C... |
ORPHA:171 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Abnormal autonomic nervous system physiology, Aganglionic megacolon, Hypertension |
OMIM:613870 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Polyhydramnios, Abnormal aortic morphology, Hydrops fetalis, Ventricular septal defect, Abnormal ... |
ORPHA:3405 |
Glucagonoma |
|
Intermittent jaundice, Diarrhea, Neoplasm of the pancreas, Intestinal obstruction, Hepatomegaly, ... |
ORPHA:97280 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Ramon Syndrome |
|
Telangiectasia of the skin |
ORPHA:3019 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Micronodular cirrhosis, Hepatomegaly,... |
OMIM:301045 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal autonomic nervous system physiology |
DECIPHER:59 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia... |
OMIM:618780 |
Nail-Patella-Like Renal Disease |
|
Hypertension |
ORPHA:2613 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia |
ORPHA:1345 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Neonatal death, Cardiomegaly, Increased variability in muscle fiber ... |
OMIM:614096 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Short stature, Abnormal mitochondria in muscle tissue, Dilated cardiomyopath... |
OMIM:252011 |
Hepatic Veno-Occlusive Disease |
|
Abdominal pain, Jaundice, Elevated hepatic transaminase, Hepatomegaly, Ascites |
ORPHA:890 |
Cardiac Diverticulum |
|
Bicuspid pulmonary valve, Pulmonary artery stenosis, Endocarditis, Patent foramen ovale, Ventricu... |
ORPHA:1686 |
Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Decreased serum leptin, Decreased adiponectin level, Hypertension |
OMIM:615238 |
Gaucher Disease Type 2 |
|
Cardiac arrest, Splenomegaly, Hepatomegaly, Dysphagia |
ORPHA:77260 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Hypertension |
ORPHA:1276 |
Systemic Sclerosis |
|
Pulmonary arterial hypertension, Gastroesophageal reflux, Gastrointestinal telangiectasia, Telang... |
ORPHA:90291 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Elevated circulating alanine aminotransferase concentration, Feeding difficulties in infancy, Lef... |
OMIM:619048 |
Multiple System Atrophy, Parkinsonian Type |
|
Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiolog... |
ORPHA:98933 |
Whipple Disease |
|
Hypotension, Diarrhea, Malabsorption, Abdominal pain, Pericarditis, Myocardial infarction, Anorex... |
ORPHA:3452 |
Hypertension And Brachydactyly Syndrome |
|
Hypertension |
OMIM:112410 |
Methimazole Embryofetopathy |
|
Polyhydramnios, Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta, Intr... |
ORPHA:1923 |
Hemoglobin H Disease |
|
Splenomegaly, Hepatomegaly |
OMIM:613978 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Decreased liver function, Hypertension, Arrhythmia |
OMIM:617021 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Ventriculomegaly |
OMIM:115210 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Restrictive cardiomyopathy, Pericardial effusion, Nonimmune hydrops fetalis, Right atrial enlarge... |
OMIM:619313 |
Multiple Endocrine Neoplasia, Type Iia |
|
Parathyroid adenoma, Increased circulating cortisol level, Aganglionic megacolon, Hypertension, P... |
OMIM:171400 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Portal fibr... |
ORPHA:369 |
Vascular Hyalinosis |
|
Diarrhea, Premature graying of hair, Malabsorption, Protein-losing enteropathy, Subarachnoid hemo... |
OMIM:277175 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pulmonary edema, Pericardial effusion, Enlarged kidney, Macroglossia, Pleural effusion, Hypertrop... |
OMIM:261740 |
Progressive Familial Intrahepatic Cholestasis |
|
Malabsorption, Jaundice, Cholestasis, Hepatomegaly, Splenomegaly |
ORPHA:172 |
Amyloidosis, Familial Visceral |
|
Hypertension, Splenomegaly, Cholestasis, Hepatomegaly |
OMIM:105200 |
Fanconi Anemia |
|
Patent ductus arteriosus, Leukopenia, Abnormal aortic morphology, Anemia, Abnormal cardiac septum... |
ORPHA:84 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Carotid artery calcification, Cardiomegaly, Short stature, Abdominal aortic calcification, Dilate... |
OMIM:208000 |
Simple Cryoglobulinemia |
|
Abnormality of the gastrointestinal tract, Abdominal pain, Raynaud phenomenon, Purpura, Congestiv... |
ORPHA:91139 |
Primary Intestinal Lymphangiectasia |
|
Pericardial effusion, Pleural effusion, Edema, Intestinal lymphangiectasia, Growth delay, Ascites... |
ORPHA:90362 |
Immunodeficiency 48 |
|
Diarrhea, Splenomegaly, Hepatomegaly |
OMIM:269840 |
Cutis Marmorata Telangiectatica Congenita |
|
Cutis marmorata, Telangiectasia, Hypertension |
OMIM:219250 |
Glycogen Storage Disease Vi |
|
Increased hepatic glycogen content, Elevated hepatic transaminase, Hepatomegaly |
OMIM:232700 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... |
ORPHA:261243 |
Inflammatory Bowel Disease 11 |
|
Inflammation of the large intestine, Abdominal pain, Hematochezia, Diarrhea |
OMIM:191390 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Abnormal autonomic nervous system physiology |
OMIM:615548 |
Coronary Arterial Fistula |
|
Patent ductus arteriosus, Patent foramen ovale, Pedal edema, Bacterial endocarditis, Vascular dil... |
ORPHA:2041 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic root aneurysm, Abdominal aortic aneurysm, Patent ductus arteriosus, Cardiomegaly, Ischemic... |
ORPHA:91387 |
Pediatric Hepatocellular Carcinoma |
|
Hepatic fibrosis, Vomiting, Hepatic necrosis, Abdominal pain, Portal vein thrombosis, Hepatomegaly |
ORPHA:33402 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly, Cardiomyopathy |
OMIM:610717 |
Angioosteohypotrophic Syndrome |
|
Prominent superficial veins, Telangiectasia of the skin |
ORPHA:75508 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly |
OMIM:606445 |
Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice, Hepatomegaly |
OMIM:613977 |
Potocki-Shaffer Syndrome |
|
Hypothyroidism, Delayed puberty, Hypertension |
ORPHA:52022 |
Pseudoxanthoma Elasticum |
|
Retinal hemorrhage, Restrictive cardiomyopathy, Mitral stenosis, Intermittent claudication, Angin... |
OMIM:264800 |
Mitchell Syndrome |
|
Abnormal autonomic nervous system physiology |
OMIM:618960 |
Neurooculocardiogenitourinary Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... |
OMIM:618652 |
Partial Atrioventricular Septal Defect |
|
Patent ductus arteriosus, Double outlet right ventricle, Partial atrioventricular canal defect, B... |
ORPHA:1330 |
Hypoplastic Left Heart Syndrome |
|
Patent ductus arteriosus, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic left... |
ORPHA:2248 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Hypertension |
OMIM:601894 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Conjunctival telangiectasia, Cutaneous photosensitivity, Telangiectasia, Dysphagia |
OMIM:615919 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, Hepatomega... |
OMIM:618234 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal ascites, Splenomegaly, Hepatomegaly |
OMIM:619462 |
Bile Acid Conjugation Defect 1 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Jaundice, Elevated ... |
OMIM:619232 |
Anonychia With Flexural Pigmentation |
|
Macular telangiectasia |
ORPHA:69125 |
Bonnemann-Meinecke-Reich Syndrome |
|
Decreased response to growth hormone stimulation test, Ventriculomegaly |
ORPHA:1261 |
Myxopapillary Ependymoma |
|
Autonomic bladder dysfunction |
ORPHA:251643 |
Adrenocortical Carcinoma |
|
Increased serum estradiol, Hyperaldosteronism, Increased circulating cortisol level, Adrenocortic... |
ORPHA:1501 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cirrhosis, Splenomegaly, Diarrhea, Fat malabsorption, Jaundice, Epistaxis, Hepatomegaly, Intrahep... |
OMIM:211600 |
Classic Homocystinuria |
|
Pulmonary embolism, Cerebral ischemia, Subcutaneous hemorrhage, Elevated hepatic transaminase, In... |
ORPHA:394 |
Carney-Stratakis Syndrome |
|
Abdominal pain, Intestinal obstruction, Gastrointestinal hemorrhage, Dysphagia, Gastrointestinal ... |
ORPHA:97286 |
Familial Hyperaldosteronism Type Ii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Abnormal circulating renin, ... |
ORPHA:404 |
Congenital Enterovirus Infection |
|
Polyhydramnios, Hydrops fetalis, Pericardial effusion, Pleural effusion, Fetal ascites, Myocardit... |
ORPHA:292 |
Scimitar Syndrome |
|
Truncus arteriosus, Hypoplasia of the diaphragm, Abnormal vena cava morphology, Abnormal hemidiap... |
ORPHA:185 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Oligohydramnios, Myopathy, Hepatomegaly, Cardiomegaly, Cardiomyopathy |
OMIM:617713 |
Tetanus |
|
Abnormal autonomic nervous system physiology, Hypertension, Autonomic bladder dysfunction, Bradyc... |
ORPHA:3299 |
Mulibrey Nanism |
|
Hydrops fetalis, Pericardial constriction, Short stature, Myocardial fibrosis, Growth delay, Hepa... |
OMIM:253250 |
Fish-Eye Disease |
|
Splenomegaly, Angina pectoris, Hepatomegaly |
ORPHA:79292 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:615954 |
Coach Syndrome 2 |
|
Hydrocephalus, Elevated hepatic transaminase, Hypertension |
OMIM:619111 |
Hyperzincemia With Functional Zinc Depletion |
|
Diarrhea, Hepatomegaly, Vasculitis |
OMIM:601979 |
Renal Failure, Progressive, With Hypertension |
|
Hypertension |
OMIM:161900 |
Heterotaxy, Visceral, 12, Autosomal |
|
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Left superior ven... |
OMIM:619702 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Aortic rupture, Aortic aneurysm, Ascending aortic dissection, Descending aortic dissection |
OMIM:613780 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Aortic tortuosity, Mitral valve prolapse, Ascending aortic dissection, Thoracic aortic aneurysm |
OMIM:616166 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Patent ductus arteriosus, Short stature, Atrial septal defect, Coarctation of aorta |
OMIM:615502 |
Sclerosing Cholangitis, Neonatal |
|
Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jaundice, Acholic stools, ... |
OMIM:617394 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Vomiting, Elevated hepatic transaminase, Dilated cardiomyopathy, Ventricular tachycardia, Hepatom... |
OMIM:600649 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion |
ORPHA:411703 |
Iga Nephropathy, Susceptibility To, 3 |
|
Hypertension |
OMIM:616818 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Spina bifida, Bicuspid aortic valve, Abn... |
ORPHA:1120 |
Multiple System Atrophy, Cerebellar Type |
|
Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiolog... |
ORPHA:227510 |
Gaucher Disease Type 1 |
|
Pedal edema, Pericardial effusion, Delayed puberty, Growth delay, Hepatomegaly, Ascites, Splenome... |
ORPHA:77259 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Elevated circulating alanine aminotransferase concentration, Jaundice, Acholic stools, Elevated c... |
OMIM:619868 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Abnormal autonomic nervous system physiology |
OMIM:617935 |
Iga Nephropathy, Susceptibility To, 2 |
|
Hypertension |
OMIM:613944 |
Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Splenomegaly, Hepatomegaly |
OMIM:237800 |
Solitary Rectal Ulcer Syndrome |
|
Episodic abdominal pain, Bloody diarrhea, Intermittent diarrhea, Rectal prolapse, Stercoral ulcer... |
ORPHA:209964 |
Fabry Disease |
|
Transient ischemic attack, Abnormal autonomic nervous system physiology, Congestive heart failure... |
OMIM:301500 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart |
ORPHA:2001 |
Duodenal Neuroendocrine Tumor |
|
Hypotension, Cardiogenic shock, Elevated hepatic transaminase, Palpitations, Hematemesis, Gastroi... |
ORPHA:100076 |
Pseudoxanthoma Elasticum |
|
Sudden cardiac death, Retinal hemorrhage, Restrictive cardiomyopathy, Angina pectoris, Bruising s... |
ORPHA:758 |
Cap Polyposis |
|
Atrophic gastritis, Colorectal polyposis, Diarrhea, Abdominal pain, Abdominal distention, Constip... |
ORPHA:160148 |
Peripartum Cardiomyopathy |
|
Pulmonary arterial hypertension, Abnormal T-wave, Abnormality of thyroid physiology, Heart murmur... |
ORPHA:563 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Anterior hypopituitarism, Hypertension, Type I diabetes mellitus |
ORPHA:181 |
Enterocolitis |
|
Enterocolitis, Hematochezia, Ulcerative colitis, Abdominal distention |
OMIM:226150 |
Autoerythrocyte Sensitization Syndrome |
|
Vomiting, Diarrhea, Intracranial hemorrhage, Bruising susceptibility, Ecchymosis, Epistaxis, Oral... |
ORPHA:324636 |
Caroli Syndrome |
|
Cholangiocarcinoma, Elevated hepatic transaminase, Hepatomegaly, Hematemesis, Abnormality of the ... |
ORPHA:480520 |
Hemochromatosis, Type 4 |
|
Cirrhosis, Hepatic steatosis, Hepatomegaly, Arrhythmia, Cardiomyopathy |
OMIM:606069 |
Congenital Toxoplasmosis |
|
Cardiomegaly, Ascites, Intrauterine growth retardation, Hepatomegaly |
ORPHA:858 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Dilated cardiomyopathy, Hepatic stea... |
OMIM:618805 |
8P23.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Abnormal car... |
ORPHA:251071 |
Methanol Poisoning |
|
Permanent atrial fibrillation, Cerebral hemorrhage, Type II diabetes mellitus, Type I diabetes me... |
ORPHA:31825 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Hypertension |
OMIM:137950 |
Focal Segmental Glomerulosclerosis 5 |
|
Hypertension |
OMIM:613237 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:615917 |
Indolent Systemic Mastocytosis |
|
Darier's sign, Splenomegaly, Abdominal cramps, Flushing, Hepatomegaly, Generalized abnormality of... |
ORPHA:98848 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Pericardial effusion, Skeletal muscle atrophy, Cardiomyopathy |
OMIM:620089 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Abnormal autonomic nervous system physiology |
ORPHA:101046 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology |
ORPHA:139578 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Ascending tubular aorta aneurysm, Moyamoya phenomenon, Descending aortic dissection, Aortic aneur... |
OMIM:611788 |
Focal Segmental Glomerulosclerosis 2 |
|
Hypertension |
OMIM:603965 |
Lig4 Syndrome |
|
Cutaneous photosensitivity, Telangiectasia |
OMIM:606593 |
Familial Hyperaldosteronism Type I |
|
Hypertension, Abnormal circulating renin, Adrenal hyperplasia, Secretory adrenocortical adenoma, ... |
ORPHA:403 |
Juvenile Polyposis Syndrome |
|
Juvenile colonic polyposis, Hepatic arteriovenous malformation, Diarrhea, Neoplasm of the gastroi... |
ORPHA:2929 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Abnormal aortic morphology, Cardiomyopathy |
ORPHA:3222 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertension, Prominent superficial veins, Acute pancreatitis, Hepatomegaly, Increased subcutaneo... |
OMIM:608600 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cirrhosis, Hepatic failure, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly, Chol... |
OMIM:616828 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hypertension |
OMIM:607832 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertension, Insulin-resistant diabetes mellitus |
OMIM:613877 |
Aicardi-Goutieres Syndrome 9 |
|
Pericardial effusion, Left ventricular hypertrophy, Hepatosplenomegaly, Pericarditis, Edema, Hepa... |
OMIM:619487 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Cardiac arrest, Abnormal autonomic nervous system physiology, Arrhythmia |
ORPHA:168593 |
Pseudohypoaldosteronism, Type Iia |
|
Pseudohypoaldosteronism, Hypertension |
OMIM:145260 |
Dubin-Johnson Syndrome |
|
Abnormal gastric mucosa morphology, Abnormality of the liver, Jaundice, Abdominal pain, Biliary t... |
ORPHA:234 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Decreased circulating aldosterone level, Optic atrophy, Adrenal insufficiency, Abnormal autonomic... |
OMIM:231550 |
Immunoglobulin A Vasculitis |
|
Nausea and vomiting, Vasculitis, Abdominal pain, Purpura, Bruising susceptibility, Anorexia, Eryt... |
ORPHA:761 |
Drug-Induced Lupus Erythematosus |
|
Pericardial effusion, Pericarditis |
ORPHA:231111 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Arteria... |
ORPHA:99050 |
Adiposis Dolorosa |
|
Diarrhea, Bruising susceptibility, Xerostomia, Constipation, Telangiectasia of the skin |
ORPHA:36397 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Concentric hypertrophic cardiomyopathy, Nonimmune hydrops fetalis, Ventricular septal hypertrophy... |
OMIM:618052 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Abnormal autonomic nervous system physiology, Optic atrophy |
ORPHA:329284 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... |
OMIM:617205 |
Glomuvenous Malformation |
|
Arteriovenous malformation, Gastrointestinal arteriovenous malformation, Venous malformation |
ORPHA:83454 |
African Iron Overload |
|
Hepatic fibrosis, Hepatitis, Hepatocellular carcinoma, Congestive heart failure, Hepatic bridging... |
ORPHA:139507 |
Carney Triad |
|
Diarrhea, Nausea and vomiting, Abdominal pain, Hypertension, Anorexia, Gastrointestinal hemorrhag... |
ORPHA:139411 |
Aortic Valve Disease 2 |
|
Aortic tortuosity, Patent foramen ovale, Bicuspid aortic valve, Calcification of the aorta, Aorti... |
OMIM:614823 |
Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology |
OMIM:605543 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased serum testosterone level, Increased circulating cortisol level, Decreased circulating d... |
OMIM:610489 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intermittent jaundice, Cirrhosis, Diarrhea, Fat malabsorption, Hepatocellular carcinoma, Intrahep... |
OMIM:601847 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypothyroidism, Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, Hypopituitarism... |
ORPHA:90065 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Petechiae, Abnormal bleeding, Hepatosplenomegaly, Epistaxis, Hepatomegaly, Splenomegaly |
OMIM:612840 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Anomalous origin of ri... |
OMIM:610338 |
Biliary Atresia, Extrahepatic |
|
Atretic gallbladder, Cirrhosis, Extrahepatic biliary duct atresia, Jaundice, Elevated hepatic tra... |
OMIM:210500 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatic failure, Cirrhosis, Diarrhea, Fat malabsorption, Jaundice, Elevated hepatic transaminase,... |
OMIM:607765 |
Meacham Syndrome |
|
Aplasia of the left hemidiaphragm, Ventricular septal defect, Enlarged kidney, Atrial septal defe... |
OMIM:608978 |
Galactose Mutarotase Deficiency |
|
Decreased liver function, Cholestasis, Hepatomegaly |
ORPHA:570422 |
Cirrhotic Cardiomyopathy |
|
Elevated pulmonary artery pressure, Cirrhosis, Left ventricular diastolic dysfunction, Third hear... |
ORPHA:57777 |
Hennekam Syndrome |
|
Camptodactyly of finger, Delayed eruption of teeth, Arteriovenous malformation, Pericardial effus... |
ORPHA:2136 |
Porphyria Variegata |
|
Abnormal autonomic nervous system physiology, Elevated hepatic transaminase, Hypertension, Abnorm... |
ORPHA:79473 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Hypertension, Type I diabetes mellitus |
ORPHA:1192 |
Juvenile Idiopathic Arthritis |
|
Pericardial effusion, Joint swelling, Splenomegaly, Hepatomegaly |
ORPHA:92 |
Alpha-Heavy Chain Disease |
|
Malabsorption, Abdominal pain, Hepatomegaly, Abnormal small intestine morphology, Ascites, Spleno... |
ORPHA:100025 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Crohn's disease, Enterocolitis, Perianal abscess, Colitis, Hematochezia |
OMIM:613148 |
Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Pleural effusion, Splenomegaly, Hepatomegaly |
OMIM:613011 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypotension, Decreased circulating cortisol level, Hypertension |
OMIM:611489 |
Cardiomyopathy, Dilated, 1A |
|
Pericardial effusion, Dilated cardiomyopathy |
OMIM:115200 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pancreatic cysts, Hepatic fibrosis, Periportal fibrosis, Enlarged kidney, Esophageal varix, Hyper... |
OMIM:263200 |
Holt-Oram Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Ventricular ... |
ORPHA:392 |
Blue Rubber Bleb Nevus |
|
Abnormality of the liver, Intussusception, Volvulus, Intestinal bleeding, Rectal prolapse |
OMIM:112200 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Telangiectasia, Raynaud phenomenon, Cutis marmorata, Livedo reticularis, Erythema |
OMIM:615934 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic failure, Hepatic fibrosis, Hepatic bridging fibrosis, Hepatomegaly, Splenomegaly |
OMIM:616719 |
Antisynthetase Syndrome |
|
Pulmonary arterial hypertension, Telangiectasia of the skin, Aortic regurgitation, Xerostomia, Dy... |
ORPHA:81 |
Q Fever |
|
Endocarditis, Splenomegaly, Pericardial effusion, Hepatosplenomegaly, Pericarditis, Pleural effus... |
ORPHA:781 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Pericardial effusion, Dilated cardiomyopathy, Abnormal myocardium morphology, Muscular dystrophy |
ORPHA:300751 |
Moyamoya Disease With Early-Onset Achalasia |
|
Raynaud phenomenon, Hypertension |
ORPHA:401945 |
Alagille Syndrome |
|
Hypertension, Reduced number of intrahepatic bile ducts, Cholestasis, Hepatomegaly, Telangiectasi... |
ORPHA:52 |
Aortic Valve Disease 3 |
|
Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascending aortic dissection, A... |
OMIM:618496 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Aortic root aneurysm, Carotid artery stenosis, Pericardial effusion, Mitral valve prolapse, Varic... |
ORPHA:536532 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy, Ventriculomegaly, Optic atrophy |
OMIM:618228 |
Zollinger-Ellison Syndrome |
|
Peptic ulcer, Extrahepatic cholestasis, Episodic abdominal pain, Diarrhea, Duodenal ulcer, Jaundi... |
ORPHA:913 |
Pediatric-Onset Graves Disease |
|
Sinus tachycardia, Increased circulating T4 concentration, Jaundice, Thyrotoxicosis with diffuse ... |
ORPHA:525731 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Facial telangiectasia, Pulmonic stenosis |
OMIM:620141 |
Autosomal Recessive Polycystic Kidney Disease |
|
Fat malabsorption, Cholangiocarcinoma, Hepatoblastoma, Hepatosplenomegaly, Protein-losing enterop... |
ORPHA:731 |
Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatic cysts, Hepatomegaly |
OMIM:617004 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatic failure, Diarrhea, Jaundice, Elevated hepatic transaminase, Steatorrhea, Intrahepatic cho... |
OMIM:235555 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Abnormal T-wave, Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating cor... |
ORPHA:231625 |
Familial Hyperaldosteronism Type Iii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Adrenal hyperplasia, Abnorma... |
ORPHA:251274 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Scleros... |
OMIM:619662 |
Absence Of The Pulmonary Artery |
|
Patent ductus arteriosus, Patent foramen ovale, Pedal edema, Cardiomegaly, Truncus arteriosus, Ab... |
ORPHA:980 |
Lynch Syndrome |
|
Pancreatic adenocarcinoma, Nausea and vomiting, Malabsorption, Abdominal pain, Neoplasm of the pa... |
ORPHA:144 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... |
OMIM:615436 |
Mulibrey Nanism |
|
Hepatomegaly |
ORPHA:2576 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Hypertension, Adrenal hyperplasia |
OMIM:201910 |
Diabetic Embryopathy |
|
Abnormal aortic morphology, Spinal dysraphism, Aplasia/Hypoplasia of the abdominal wall musculatu... |
ORPHA:1926 |
Pleural Mesothelioma |
|
Abnormal cardiovascular system physiology, Hepatomegaly, Dysphagia |
ORPHA:50251 |
Glycogen Storage Disease Iii |
|
Hepatic fibrosis, Elevated hepatic transaminase, Hepatomegaly, Cardiomyopathy |
OMIM:232400 |
Liddle Syndrome |
|
Hypertension, Cerebral ischemia, Arrhythmia |
ORPHA:526 |
Cystic Hamartoma Of Lung And Kidney |
|
Hypertension |
ORPHA:2111 |
Superficial Siderosis |
|
Abnormal vertebral artery morphology, Lower limb muscle weakness, Arteriovenous malformation, Int... |
ORPHA:247245 |
Immunodeficiency 42 |
|
Recurrent aphthous stomatitis, Splenomegaly, Hepatomegaly |
OMIM:616622 |
Alkuraya-Kucinskas Syndrome |
|
Pericardial effusion, Camptodactyly, Pleural effusion, Edema, Arthrogryposis multiplex congenita |
OMIM:617822 |