Marcus-Gunn Syndrome |
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Postnatal growth retardation, Unilateral ptosis, Abnormal fifth cranial nerve morphology, Abnorma... |
ORPHA:91412 |
Neurotrophic Keratopathy |
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Abnormal fifth cranial nerve morphology, Corneal scarring, Corneal stromal edema, Astigmatism, Re... |
ORPHA:137596 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
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Intrauterine growth retardation, Truncus arteriosus, Short stature, Highly arched eyebrow |
OMIM:611867 |
Schwannomatosis 1 |
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Vestibular schwannoma, Peripheral schwannoma |
OMIM:162091 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
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Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Situs inversus totalis, Cholest... |
OMIM:615415 |
Igg4-Related Ophthalmic Disease |
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Palpebral edema, Cholangitis, Abnormal fifth cranial nerve morphology, Abnormality of infra-orbit... |
ORPHA:449563 |
Deafness, Autosomal Dominant 9 |
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Abnormality of the vestibulocochlear nerve |
OMIM:601369 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
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Ventricular septal defect, Abnormal aortic morphology, Blepharophimosis, Intrauterine growth reta... |
ORPHA:2516 |
Congenital Heart Defects, Multiple Types, 9 |
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Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Verheij Syndrome |
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Branchial cyst, Ventricular septal defect, Optic nerve hypoplasia, Short stature, Growth delay, I... |
OMIM:615583 |
Adams-Oliver Syndrome 6 |
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Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fi... |
OMIM:616589 |
Burning Mouth Syndrome |
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Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials |
ORPHA:353253 |
Scimitar Syndrome |
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Heart block, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus a... |
ORPHA:185 |
Microphthalmia, Syndromic 9 |
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Severe short stature, Truncus arteriosus, Ventricular septal defect, Short stature, Blepharophimo... |
OMIM:601186 |
14Q24.1Q24.3 Microdeletion Syndrome |
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Ventricular septal defect, Synophrys, Abnormal heart morphology, Atrial septal defect, Truncus ar... |
ORPHA:401935 |
Double Outlet Right Ventricle |
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Tachycardia, Ventricular septal defect, Short stature, Double outlet right ventricle, Heart murmu... |
ORPHA:3426 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
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Abnormal peripheral action potential amplitude, Abnormality of the seventh cranial nerve |
ORPHA:90117 |
Aortic Arch Interruption |
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Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... |
ORPHA:2299 |
Emanuel Syndrome |
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Truncus arteriosus, Ventricular septal defect, Patent ductus arteriosus, Upslanted palpebral fiss... |
OMIM:609029 |
Emanuel Syndrome |
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Truncus arteriosus, Ventricular septal defect, Hooded eyelid, Patent ductus arteriosus, Growth de... |
ORPHA:96170 |
Stankiewicz-Isidor Syndrome |
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Patent ductus arteriosus, Truncus arteriosus, Abnormal optic disc morphology, Ventricular septal ... |
OMIM:617516 |
Truncus Arteriosus |
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Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Superficial Siderosis |
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Subarachnoid hemorrhage, Abnormality of the vestibulocochlear nerve, Anisocoria, Abnormality of t... |
ORPHA:247245 |
Arnold-Chiari Malformation Type I |
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Myelopathy, Cranial nerve compression, Abnormality of the vestibulocochlear nerve, Abnormality of... |
ORPHA:268882 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
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Decreased compound muscle action potential amplitude, Vestibular schwannoma |
OMIM:613641 |
Hemoglobin D Disease |
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Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Absence Of The Pulmonary Artery |
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Abnormal coronary artery morphology, Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ab... |
ORPHA:980 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
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Hydranencephaly, Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
Conotruncal Heart Malformations |
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Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Cleft-Limb-Heart Malformation Syndrome |
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Truncus arteriosus |
OMIM:215850 |
22Q11.2 Deletion Syndrome |
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Abnormal eyelid morphology, Abnormal aortic arch morphology, Hypoplasia of the thymus, Atrial sep... |
ORPHA:567 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Aortic regurgitation, Unilateral ptosis, Bicuspid aortic valve, Truncus arteriosus, Ventricular s... |
ORPHA:508498 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Absent gallbladder, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal... |
OMIM:600001 |
Congenital Rubella Syndrome |
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Hepatomegaly, Cataract, Corneal opacity, Ventricular septal defect, Short stature, Splenomegaly, ... |
ORPHA:290 |
Acrocardiofacial Syndrome |
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Ventricular septal defect, Mitral stenosis, Coarctation of aorta, Long eyelashes, Atrial septal d... |
ORPHA:2008 |
Hemochromatosis, Type 2B |
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Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Cardiomyopat... |
OMIM:613313 |
Attrv122I Amyloidosis |
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Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys... |
ORPHA:85451 |
Ring Dermoid Of Cornea |
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Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
Anemia, Congenital Dyserythropoietic, Type Ib |
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Hepatomegaly, Reticulocytosis, Short stature, Anemia of inadequate production, Anisocytosis, Sple... |
OMIM:615631 |
Transaldolase Deficiency |
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Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Micronodular cirrhosis, Pate... |
OMIM:606003 |
Structural Heart Defects And Renal Anomalies Syndrome |
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Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... |
OMIM:617478 |
Osteopetrosis, Autosomal Recessive 4 |
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Hepatomegaly, Optic disc pallor, Reticulocytosis, Facial palsy, Splenomegaly, Optic atrophy, Grow... |
OMIM:611490 |
8Q24.3 Microdeletion Syndrome |
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Branchial cyst, Atrioventricular canal defect, Spina bifida occulta, Dysplastic aortic valve, Sho... |
ORPHA:508488 |
Distal 22Q11.2 Microdeletion Syndrome |
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Aortic regurgitation, Branchial fistula, Ventricular septal defect, Short stature, Highly arched ... |
ORPHA:261330 |
Leprosy |
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Absent eyebrow, Epistaxis, Abnormality of the spleen, Abnormality of the seventh cranial nerve, L... |
ORPHA:548 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
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Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Extramedullary hematopoiesis, ... |
OMIM:617021 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
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Hepatomegaly, Splenomegaly, Thrombocytopenia, Optic atrophy, Cardiomyopathy, Stroke, Neutropenia,... |
ORPHA:79312 |
Osteopetrosis, Autosomal Recessive 8 |
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Hepatomegaly, Facial palsy, Splenomegaly, Thrombocytopenia, Optic atrophy, Anemia |
OMIM:615085 |
Gillespie Syndrome |
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Hypoplasia of the iris, Truncus arteriosus, Aniridia |
OMIM:206700 |
Hemochromatosis, Type 4 |
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Hepatomegaly, Cataract, Cardiomyopathy, Cirrhosis, Arrhythmia, Hepatic steatosis, Anemia |
OMIM:606069 |
Neonatal Lupus Erythematosus |
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Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Hemolytic anemia, Aplastic an... |
ORPHA:398124 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
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Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Optic atrophy, Leukopenia, Cardiomyopathy, Pan... |
ORPHA:27 |
Thanatophoric Dysplasia, Glasgow Variant |
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Neonatal death, Cataract, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Cholesteryl Ester Storage Disease |
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Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Elevated gamma-gluta... |
OMIM:278000 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Short st... |
OMIM:613673 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... |
OMIM:616860 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
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Hepatomegaly, Thrombocytopenia, Optic atrophy, Growth delay, Neutropenia, Pancreatitis, Anemia |
ORPHA:289916 |
Digeorge Syndrome |
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Ventricular septal defect, Short stature, Sclerocornea, Splenomegaly, Patent ductus arteriosus, T... |
OMIM:188400 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Aortic regurgitation, Epicanthus, Cataract, Bicuspid aortic valve, Sutural cataract, Highly arche... |
OMIM:612474 |
Cyanosis, Transient Neonatal |
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Hepatomegaly, Reticulocytosis, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Reticulocytosis, Anisocytosis, Reduced red cell pyruvate kinase level, Splenomegaly, Abnormal ery... |
ORPHA:766 |
Al Amyloidosis |
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Gastrointestinal hemorrhage, Hepatomegaly, Abnormal EKG, Howell-Jolly bodies, Abnormal cardiac ve... |
ORPHA:85443 |
Fanconi Anemia, Complementation Group T |
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Acute myeloid leukemia, Pancytopenia, Short stature, Facial palsy, Anemia, Thrombocytopenia |
OMIM:616435 |
Beta-Thalassemia |
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Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... |
ORPHA:848 |
Alpha-Thalassemia |
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Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Fabry Disease |
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Angina pectoris, Corneal dystrophy, Myocardial infarction, Transient ischemic attack, Congestive ... |
OMIM:301500 |
Peripartum Cardiomyopathy |
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Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
Hepatoportal Sclerosis |
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Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera... |
ORPHA:64743 |
Tangier Disease |
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Accelerated atherosclerosis, Peripheral axonal neuropathy, Corneal opacity, Carotid artery stenos... |
ORPHA:31150 |
Anemia, Congenital Dyserythropoietic, Type Ia |
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Hepatomegaly, Hemolytic anemia, Reticulocytosis, Mild postnatal growth retardation, Reduced level... |
OMIM:224120 |
Dehydrated Hereditary Stomatocytosis |
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Hemolytic anemia, Reticulocytosis, Increased circulating lactate dehydrogenase concentration, Mac... |
ORPHA:3202 |
Microgastria-Limb Reduction Defect Syndrome |
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Hepatomegaly, Abnormality of the spleen, Growth delay, Atrial septal defect, Truncus arteriosus |
ORPHA:2538 |
Glycogen Storage Disease Xii |
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Normocytic anemia, Hepatomegaly, Epicanthus, Increased circulating lactate dehydrogenase concentr... |
OMIM:611881 |
Osteopetrosis, Autosomal Recessive 2 |
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Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Cranial nerve compression, Optic at... |
OMIM:259710 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
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Hepatomegaly, Splenomegaly, Growth delay, Decreased mean corpuscular volume, Poikilocytosis, Elev... |
OMIM:615234 |
Combined Oxidative Phosphorylation Deficiency 42 |
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Cardiomyopathy, Decreased liver function, Neonatal death, Intrauterine growth retardation, Anemia |
OMIM:618839 |
Hb Bart'S Hydrops Fetalis |
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Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia |
ORPHA:163596 |
Combined Oxidative Phosphorylation Deficiency 40 |
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Decreased liver function, Neonatal death, Intrauterine growth retardation, Hypertrophic cardiomyo... |
OMIM:618835 |
Lattice Corneal Dystrophy Type I |
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Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Hereditary Spherocytosis |
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Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Restri... |
ORPHA:822 |
Sitosterolemia 1 |
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Reticulocytosis, Carotid artery stenosis, Splenomegaly, Thrombocytopenia, Giant platelets, Xanthe... |
OMIM:210250 |
Benign Schwannoma |
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Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth cranial nerve, Sclera... |
ORPHA:252164 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
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Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosu... |
ORPHA:99050 |
Gaucher Disease, Type I |
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Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Thrombocytopenia, Hypertensio... |
OMIM:230800 |
Eisenmenger Syndrome |
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Ventricular tachycardia, Aortopulmonary window, Iron deficiency anemia, Abnormality of the liver,... |
ORPHA:97214 |
Congenital Dyserythropoietic Anemia Type Iii |
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Elevated hepatic transaminase, Short stature, Anisocytosis, Abnormal erythrocyte morphology, Mele... |
ORPHA:98870 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Accessory spleen, Elevated hepatic transaminase, Cataract, Severe B lymphocytopenia, Portal hyper... |
OMIM:620005 |
Full Schwannomatosis |
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Schwannoma, Cataract, Peripheral schwannoma, Bilateral vestibular schwannoma |
ORPHA:93921 |
Femoral-Facial Syndrome |
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Short stature, Ventricular septal defect, Upslanted palpebral fissure, Pulmonic stenosis, Truncus... |
OMIM:134780 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Papilledema, Mitral valve calcification, Spontaneous, recurrent epistaxis, Corneal opacity, Pancy... |
ORPHA:2072 |
Neurofibromatosis, Type Iii, Mixed Central And Peripheral |
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Palmar neurofibroma, Paraspinal neurofibroma, Bilateral vestibular schwannoma, Lisch nodules |
OMIM:162260 |
Schwannomatosis, Vestibular |
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Bilateral vestibular schwannoma, Retinal hamartoma, Peripheral schwannoma, Occasional neurofibrom... |
OMIM:101000 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
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Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Legius Syndrome |
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Cataract, Short stature, Acute monocytic leukemia, Paroxysmal atrial tachycardia, Neurofibroma, M... |
ORPHA:137605 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
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Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
Osteopetrosis, Autosomal Recessive 3 |
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Extramedullary hematopoiesis, Short stature, Hepatosplenomegaly, Optic nerve compression, Anemia |
OMIM:259730 |
Blau Syndrome |
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Pericarditis, Cataract, Facial palsy, Keratitis, Splenomegaly, Large vessel vasculitis, Aortic an... |
ORPHA:90340 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
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Hepatomegaly, Ventricular septal defect, Optic nerve hypoplasia, Aortopulmonary collateral arteri... |
OMIM:620025 |
Amoebic Keratitis |
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Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
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Epistaxis, Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Telangiecta... |
OMIM:175050 |
Paroxysmal Nocturnal Hemoglobinuria |
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Hemolytic anemia, Reticulocytosis, Pancytopenia, Myocardial infarction, Pulmonary embolism, Abnor... |
ORPHA:447 |
Full Nf2-Related Schwannomatosis |
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Facial palsy, Bilateral vestibular schwannoma, Retinal hamartoma, Myelopathy, Posterior subcapsul... |
ORPHA:637 |
Costello Syndrome |
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Epicanthus, Ventricular septal defect, Short stature, Mitral valve prolapse, Vestibular schwannom... |
OMIM:218040 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
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Laterally extended eyebrow, Ventricular septal defect, Short stature, Highly arched eyebrow, Secu... |
OMIM:600987 |
15Q14 Microdeletion Syndrome |
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Atrial septal defect, Ventricular septal defect, Short stature |
ORPHA:261190 |