Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
Hydroxyacyl Glutathione Hydrolase Deficiency |
|
Glyoxalase deficiency |
OMIM:614033 |
Deoxyribose-5-Phosphate Aldolase Deficiency |
|
Abnormal circulating enzyme concentration or activity |
OMIM:125460 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Corneal Dystrophy, Band-Shaped |
|
Band-shaped corneal dystrophy |
OMIM:217500 |
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy |
|
Punctate corneal dystrophy |
OMIM:183850 |
Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Cataract 44 |
|
Developmental cataract |
OMIM:616509 |
Alcohol Sensitivity, Acute |
|
Reduced acetaldehyde dehydrogenase level |
OMIM:610251 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome |
|
Ectopia lentis |
ORPHA:2084 |
Cardiomyopathy, Dilated, 1M |
|
Reduced left ventricular ejection fraction, Impaired myocardial contractility, Congestive heart f... |
OMIM:607482 |
Cardiomyopathy, Dilated, 1L |
|
Reduced left ventricular ejection fraction, Sudden cardiac death, Reduced systolic function, Cong... |
OMIM:606685 |
Cataract 12, Multiple Types |
|
Developmental cataract, Progressive cataract |
OMIM:611597 |
Cardiomyopathy, Dilated, 1J |
|
Sudden death, Sudden cardiac death, Abnormal left ventricular function, Congestive heart failure,... |
OMIM:605362 |
Immunodeficiency 24 |
|
Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level... |
OMIM:615897 |
Cardiomyopathy, Dilated, 1Dd |
|
Congestive heart failure, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden c... |
OMIM:613172 |
Cardiomyopathy, Dilated, 1R |
|
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... |
OMIM:613424 |
Corneal Dystrophy, Groenouw Type I |
|
Cataract, Granular corneal dystrophy, Punctate corneal dystrophy, Nodular corneal dystrophy |
OMIM:121900 |
Cardiomyopathy, Dilated, 1I |
|
Reduced left ventricular ejection fraction, Reduced systolic function, Congestive heart failure, ... |
OMIM:604765 |
Cardiomyopathy, Dilated, 2A |
|
Cardiomyocyte hypertrophy, Myofiber disarray, Congestive heart failure, Increased left ventricula... |
OMIM:611880 |
Pupillary Membrane, Persistence Of |
|
Megalocornea, Developmental cataract, Persistent pupillary membrane |
OMIM:178900 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Increased... |
OMIM:618944 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Sudden cardiac death, Left bundle b... |
OMIM:601493 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Pulmonary arterial hypertension, Cardiomyocyte hypertrophy, Apical hypertrophic cardiomyopathy, L... |
OMIM:613255 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Increased ... |
OMIM:212050 |
Cardiomyopathy, Dilated, 1Ff |
|
Increased left ventricular end-diastolic volume, Severely reduced left ventricular ejection fract... |
OMIM:613286 |
Cardiomyopathy, Dilated, 1Ee |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Congestive heart failure... |
OMIM:613252 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Osteopenia, Intention tremor, Hypersplenism, Thrombocytopenia, Hypocholesterolemia, Splen... |
OMIM:610539 |
Cardiomyopathy, Dilated, 1P |
|
Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia |
OMIM:609909 |
Histiocytosis, Familial Lipochrome |
|
Increased alpha-globulin, Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Cardiomyopathy, Dilated, 1Z |
|
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
OMIM:611879 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Sudden death, Congestive ... |
OMIM:192600 |
Cornea Plana 1, Autosomal Dominant |
|
Flat cornea |
OMIM:121400 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Cardiomyopathy, Dilated, 1U |
|
Left ventricular hypertrophy, Syncope, Severely reduced left ventricular ejection fraction, First... |
OMIM:613694 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Chest tightness, Left ventricular noncompaction cardiomyopathy, Mit... |
OMIM:604169 |
Cardiomyopathy, Dilated, 1Hh |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy |
OMIM:613881 |
Cardiac Lipidosis, Familial |
|
Cardiomyopathy, Congestive heart failure |
OMIM:212080 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:312863 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Left at... |
OMIM:608751 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells, Defective T cell proliferation, R... |
OMIM:614493 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Palpitations, S... |
OMIM:604400 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Left ventricular systolic dysfunction, Mitral regurgitati... |
OMIM:615373 |
Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Congestive heart failure, Dilated cardiomyopathy, Ventricular ... |
OMIM:600884 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Prolonged QTc interval, Reduced left ventricular ejection fraction, Torsade de po... |
OMIM:613485 |
Incessant Infant Ventricular Tachycardia |
|
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Left ventricular systolic dysfunc... |
ORPHA:45453 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Left ventricular noncompaction, Syncope, Congestive heart failur... |
OMIM:615396 |
Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Ectopia lentis, Corneal opacity |
OMIM:613086 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Abnormal cardiac ventricular function, Congestive heart failure, Dilated cardiomyopathy |
ORPHA:217622 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Decreased circulating IgG2 level, Increased circulating IgE leve... |
OMIM:610163 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Hepatosplenomegaly, Increased circulating IgE level, Increased circulating IgG level, Increased p... |
OMIM:618982 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Increased circulating IgE level, Increased circulating IgM level, Reduc... |
OMIM:617241 |
Cardiomyopathy, Dilated, 1Kk |
|
Mitral regurgitation, Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Congestive heart... |
OMIM:615248 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Ventricular tachycardia, Left ventricular hypertrophy, Left ventricular outflow tract obstruction... |
OMIM:613251 |
Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Congestive heart fail... |
OMIM:613642 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating IgA level, Hepatosplenomegaly, Increased circulating antibody level, Decrea... |
ORPHA:169154 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
Atrial Standstill |
|
Mobitz I atrioventricular block, Ventricular tachycardia, Reduced left ventricular ejection fract... |
ORPHA:1344 |
Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Granuloma, Hepatosplenomegaly, Lymphopenia, Thrombocytopenia, Elevated proporti... |
OMIM:619802 |
Cardiomyopathy, Dilated, 1V |
|
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Syncope, First degree a... |
OMIM:613697 |
Loeffler Endocarditis |
|
Mitral regurgitation, Left ventricular hypertrophy, Palpitations, Fatigue, Aortic regurgitation, ... |
ORPHA:75566 |
Atrial Septal Defect, Sinus Venosus Type |
|
Paradoxical splitting of the second heart sound, Tricuspid regurgitation, Supraventricular arrhyt... |
ORPHA:99105 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Cardiac arrest, Chest pain, Left anterior fascicular block, Ventricular tachycardia, Atrial septa... |
OMIM:612098 |
Cardiomyopathy, Dilated, 1Bb |
|
Severely reduced left ventricular ejection fraction, Left bundle branch block, Congestive heart f... |
OMIM:612877 |
Immunodeficiency 95 |
|
Increased circulating IgG3 level, Lymphopenia, Decreased circulating IgG3 level |
OMIM:619773 |
Cardiomyopathy, Dilated, 1K |
|
Gallop rhythm, Congestive heart failure, Dilated cardiomyopathy |
OMIM:605582 |
Familial Progressive Cardiac Conduction Defect |
|
Heart block, Syncope, Arrhythmia, Abdominal pain, Bundle branch block, Congestive heart failure |
ORPHA:871 |
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet |
|
Posterior corneal stroma punctiform multicolored opacities |
OMIM:619871 |
Schnyder Corneal Dystrophy |
|
Crystalline corneal dystrophy, Corneal dystrophy |
OMIM:121800 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Neutropenia, Decreased circulating IgA level, Decreased c... |
OMIM:606843 |
Immunodeficiency 48 |
|
Panhypogammaglobulinemia, Absence of CD8-positive T cells, Splenomegaly |
OMIM:269840 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal opacity, Corneal dystrophy |
OMIM:300779 |
Cataract-Microcornea Syndrome |
|
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea |
ORPHA:1377 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Abnormality of humoral immunity, Increased circulating IgE level, Lymphopenia, B lymphocytopenia,... |
ORPHA:277 |
Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... |
OMIM:618204 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ... |
OMIM:620058 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Cardiomyopathy, Dilated, 2B |
|
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation, Reduced left ventricular e... |
OMIM:614672 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level, Erythroid hypoplasia |
OMIM:242880 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, ... |
OMIM:619824 |
Cardiomyopathy, Dilated, 1G |
|
Ventricular tachycardia, Reduced left ventricular ejection fraction, Premature atrial contraction... |
OMIM:604145 |
Cardiomyopathy, Dilated, 1O |
|
Ventricular tachycardia, Impaired myocardial contractility, Congestive heart failure, Dilated car... |
OMIM:608569 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiac arrest, Left ventricular diastolic dysfunction, Cardiomyocyte hypertrophy, Concentric hyp... |
OMIM:618052 |
Immunodeficiency 89 And Autoimmunity |
|
Increased circulating IgA level, Increased circulating IgE level, Reduced circulating interleukin... |
OMIM:619632 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Asymmetric septal hypertrophy, Chest pain, Prolonged QRS complex, Wolff-Parkinson-White syndrome,... |
OMIM:600858 |
Carvajal Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
Immunodeficiency, Common Variable, 11 |
|
Decreased proportion of class-switched memory B cells, Increased circulating IgE level, Decreased... |
OMIM:615767 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased circulating IgA level, Hepatosplenomegaly, Decreased proportion of CD4-positive T cells... |
OMIM:618534 |
Immunodeficiency 105 |
|
Hepatosplenomegaly, Decreased circulating total IgM, Impaired lymphocyte transformation with phyt... |
OMIM:619924 |
Cardiomyopathy, Dilated, 1D |
|
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Left ventricular noncom... |
OMIM:601494 |
Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, Decreased circulating total IgM, Impaired lymphocyte transformation wit... |
OMIM:300400 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... |
OMIM:611926 |
Fixed Subaortic Stenosis |
|
Ventricular septal defect, Bacterial endocarditis, Left ventricular outflow tract obstruction, At... |
ORPHA:3092 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Increased ... |
OMIM:601859 |
Cataract 10, Multiple Types |
|
Zonular cataract, Nuclear cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Craniosynostosis, Increased circulating IgE level, Osteopenia, Eosinophilia, Cutaneous abscess, R... |
OMIM:147060 |
Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Decreased circulating total IgM, Increased circulating IgE level, Decreased circulating IgA level... |
OMIM:619752 |
Sudden Cardiac Failure, Infantile |
|
Myocarditis, Myocardial fibrosis, Sudden cardiac death, Congestive heart failure, Hypertrophic ca... |
OMIM:617222 |
Cardiomyopathy, Dilated, 2F |
|
Ventricular tachycardia, Severely reduced left ventricular ejection fraction, Congestive heart fa... |
OMIM:619747 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Cardiac arrest, Prolonged QTc interval, Left anterior fascicular block, Atrial fibrillation, Paro... |
OMIM:616117 |
Peripartum Cardiomyopathy |
|
Myocarditis, Reduced left ventricular ejection fraction, Diabetes mellitus, Abdominal pain, Abnor... |
ORPHA:563 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... |
OMIM:619220 |
Familial Dilated Cardiomyopathy |
|
Left ventricular systolic dysfunction, Mitral regurgitation, Reduced left ventricular ejection fr... |
ORPHA:217607 |
Cataract 1, Multiple Types |
|
Nuclear cataract, Pulverulent cataract, Microcornea, Posterior subcapsular cataract |
OMIM:116200 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased proportion of class-switched memory B cells, Decreased circulating IgG2 level, Increase... |
OMIM:615513 |
Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Salmonella osteomyelitis, Histiocytosis, Increased circ... |
OMIM:209950 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Ventricular tachycardia, Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventri... |
OMIM:607450 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Arrhythmia, Hypertension, Pulmonary embolism, Abnormal heart valve morphology, Congestive heart f... |
ORPHA:1345 |
Cardiomyopathy, Dilated, 1A |
|
Second degree atrioventricular block, First degree atrioventricular block, Sudden cardiac death, ... |
OMIM:115200 |
Congenital Heart Defects, Multiple Types, 2 |
|
Tetralogy of Fallot, Ventricular septal defect, Left ventricular outflow tract obstruction, Subva... |
OMIM:614980 |
Cernunnos-Xlf Deficiency |
|
Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Decreased circulating antibody level, T... |
ORPHA:169079 |
Isolated Right Ventricular Hypoplasia |
|
Systolic heart murmur, Right ventricular failure, Atrial septal defect, Right-to-left shunt, Card... |
ORPHA:439 |
Cardiomyopathy, Dilated, 1Oo |
|
Reduced left ventricular ejection fraction, Atrial septal defect, Second degree atrioventricular ... |
OMIM:620247 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Congestive heart failure, Fatigue, Abdominal pain |
OMIM:616794 |
Coronary Arterial Fistula |
|
Abnormal EKG, Pulmonary arterial hypertension, Systolic heart murmur, Continuous heart murmur, At... |
ORPHA:2041 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia |
ORPHA:217390 |
Ebstein Malformation Of The Tricuspid Valve |
|
Right bundle branch block, Abnormal endocardium morphology, Chest pain, Atrial septal defect, Arr... |
ORPHA:1880 |
Maternally-Inherited Diabetes And Deafness |
|
Arrhythmia, Hypertension, Type II diabetes mellitus, Congestive heart failure, Hypertrophic cardi... |
ORPHA:225 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Decreased circulating total IgM, Oligoarthritis, Decrease... |
OMIM:619510 |
Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Endocardial fibroelastosis, Congestive heart failure, Anterior hypopi... |
ORPHA:2022 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Heart block, Syncope, Supraventricular tachycardia, Sinoatrial block, Sudden cardiac death, Atria... |
ORPHA:300751 |
Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Reduced left ventricular ejection fraction, Abnormal ST segment, Congestive... |
OMIM:615916 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia, Increased circulating antibody level |
OMIM:247800 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy |
OMIM:616198 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Diabetes mellitus, Arrhythmia, Hype... |
OMIM:540000 |
Cataract 3, Multiple Types |
|
Cerulean cataract, Sutural cataract, Developmental cataract, Nuclear pulverulent cataract |
OMIM:601547 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating IgA level, Decreased proportion of memory B cells, Increased CD4:CD8 ratio,... |
OMIM:618048 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Craniosynostosis, Increased circulating IgE level, Joint contracture of the hand, Eosinophilia |
OMIM:618523 |
Cataract 8, Multiple Types |
|
Developmental cataract, Nuclear cataract |
OMIM:115665 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Pulmonary arterial hypertension, Systolic heart murmur, Pulmonic ... |
ORPHA:99095 |
Butyrylcholinesterase Deficiency |
|
Myocardial infarction, Congestive heart failure |
ORPHA:132 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Arrhythmi... |
ORPHA:85451 |
Cataract 41 |
|
Nuclear cataract |
OMIM:116400 |
Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
Cataract 18 |
|
Nuclear cataract |
OMIM:610019 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Cardiac arrest, Right bundle branch block, Reduced left ventricular ejection fraction, Hepatomega... |
OMIM:115197 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
Cataract 22, Multiple Types |
|
Developmental cataract, Nuclear cataract |
OMIM:609741 |
Sandhoff Disease |
|
Congestive heart failure, Hepatomegaly, Splenomegaly |
ORPHA:796 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Osteolysis, Increased circulating antibody level, Anemia, Osteoporosis, Sp... |
ORPHA:100024 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Increased circulating IgE level, Decreased circulating total IgM, Eosinophilia |
OMIM:617638 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Maternal diabetes, Abnormal pulmonary valve morphology, Abnormality of blood circulation, Abnorma... |
ORPHA:860 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Decreased circulating total IgM, Increased circulating IgE level, Reduced natural killer cell cou... |
OMIM:243700 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Pulmonic valve myxoma, Tricuspid regurgitation, Congestive heart failure,... |
ORPHA:615 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Prolonged QTc interval, Left anterior fascicular block, Mitral regurgitation, Left atrial enlarge... |
OMIM:617047 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Ectopia lentis, Aniridia |
ORPHA:1068 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Myalgia, Congestive heart failure, Dilated cardiomyopathy, Left ventricular hypertrophy |
ORPHA:206546 |
Hemochromatosis, Type 2A |
|
Arrhythmia, Cardiomyopathy, Hepatomegaly, Splenomegaly, Congestive heart failure, Dilated cardiom... |
OMIM:602390 |
Kimura Disease |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Decreased circulat... |
ORPHA:859 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, Complete or near-complete absence of specific antibody re... |
ORPHA:70593 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic ... |
OMIM:614096 |
Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... |
OMIM:617319 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM... |
OMIM:153600 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Increased ... |
OMIM:603909 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Ventricular tachycardia, Congestive heart failure, Cardiomyocyte hypertrophy, Dilated cardiomyopathy |
OMIM:605676 |
Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hepatosplenomegaly, Decreased specific anti-polysaccharide antibody level, Hemolytic anemia, Decr... |
OMIM:606367 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Congestive heart failure |
OMIM:301021 |
Immunodeficiency 62 |
|
Decreased proportion of memory B cells, Decreased circulating total IgM, Reduced isohemagglutinin... |
OMIM:618459 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Arrhythmia, Severely reduced left ventricular ejection fraction, Sudden cardiac death, Congestive... |
OMIM:611705 |
Cirrhotic Cardiomyopathy |
|
Left ventricular diastolic dysfunction, Third heart sound, Global systolic dysfunction, Reduced l... |
ORPHA:57777 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Morbid Obesity And Spermatogenic Failure |
|
Myocardial infarction, Hypertension, Type II diabetes mellitus, Congestive heart failure |
OMIM:615703 |
Immunodeficiency 102 |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of naive CD8 T cells, ... |
OMIM:301082 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia, T lymphocytopenia |
DECIPHER:16 |
Igg4-Related Aortitis |
|
Hypereosinophilia, Increased circulating IgG4 level, Increased circulating antibody level, Increa... |
ORPHA:449400 |
Pgm3-Cdg |
|
Increased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Leukopenia... |
ORPHA:443811 |
Exfoliation Syndrome |
|
Cataract, Mydriasis, Phakodonesis, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Pigm... |
OMIM:177650 |
Naxos Disease |
|
Arrhythmia, Cardiomyopathy, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricula... |
ORPHA:34217 |
Megalocornea |
|
Cataract, Megalocornea, Astigmatism, Iridodonesis, Mosaic corneal dystrophy, Decreased corneal th... |
OMIM:309300 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Left ventricular hypertrophy, Hepatomegaly, Ventricular hypertrophy, Congestive heart failure, Br... |
OMIM:619048 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati... |
OMIM:616636 |
Congenital Left Ventricular Aneurysm |
|
Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnormal ST segment, Congestive ... |
ORPHA:1055 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiac arrest, Ventricular septal defect, Diabetes mellitus, Atrial septal defect, Congestive he... |
ORPHA:49827 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Lower limb pain, Hypertension, Exercise intolerance, Fatigue, Congestive heart failure, Dilated c... |
ORPHA:1349 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Mitral regurgitation, Reduced left ventricular ejection fraction, Sinus tachycardia, Hypertension... |
OMIM:614473 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Congestive heart failure |
OMIM:300886 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Congestive heart failure, Hypertrophic cardiomyopathy |
OMIM:615440 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Extramedullary hematopoiesis, Increased circulating antibody level, Anemia, Thrombocy... |
OMIM:615285 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, Neutropenia, Arthritis, Eos... |
OMIM:304790 |
Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia, Syncope, Abnormal QRS complex, Increased heart rate variability |
OMIM:614896 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Hepatomegaly, Complete atrioventricular canal defect, Postexertion... |
ORPHA:1329 |
Hemochromatosis, Type 2B |
|
Hypogonadism, Cardiomyopathy, Hepatomegaly, Congestive heart failure, Splenomegaly |
OMIM:613313 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Ventricular tachycardia, Syncope, Sudden death, Polymorphic ventricular tachycardia, Bradycardia |
OMIM:611938 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Fatigue, Tachycardia, Congestive heart failure, Splenomegaly |
ORPHA:90037 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Increased circulating antibody level, Anemia, Neutropenia, Eosinophilia... |
OMIM:202700 |
Aorto-Ventricular Tunnel |
|
Abnormal heart valve morphology, Heart murmur, Congestive heart failure, Ventricular hypertrophy |
ORPHA:3400 |
Hydrops Fetalis, Nonimmune |
|
Congestive heart failure |
OMIM:236750 |
Cataract 20, Multiple Types |
|
Membranous cataract, Cortical cataract, Sutural cataract, Lamellar cataract |
OMIM:116100 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Syncope, Palpitations, Elevated jugular venous pressure, Hepatom... |
ORPHA:422 |
Cataract 39, Multiple Types |
|
Developmental cataract, Anterior polar cataract, Lamellar cataract |
OMIM:615188 |
Caspase 8 Deficiency |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:607271 |
Congenital Myopathy 8 |
|
Cardiomegaly, Congestive heart failure |
OMIM:618654 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Leukocytosis, Increased circulating IgG level, Limited elbow flexion, Tremor, Limitation of movem... |
ORPHA:206594 |
Atrial Septal Defect, Ostium Secundum Type |
|
Abnormal mitral valve morphology, Tricuspid regurgitation, Transient ischemic attack, Supraventri... |
ORPHA:99103 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Sp... |
OMIM:614470 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased LDL cholesterol concentration, Steatorrhea, Acanthocytosis, Hypertriglyceridemia, Decre... |
OMIM:615558 |
Familial Cutaneous Collagenoma |
|
Cardiomyopathy, Angina pectoris, Congestive heart failure, Atrial septal defect |
ORPHA:53296 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hemophagocytosis, Aplastic anemia, Neutropenia, Reduced natural killer cell activity, Increased c... |
OMIM:308240 |
Desminopathy |
|
Concentric hypertrophic cardiomyopathy, Sudden cardiac death, Supraventricular arrhythmia, Conges... |
ORPHA:98909 |
Hyperferritinemia With Or Without Cataract |
|
Nuclear cataract, Pulverulent cataract |
OMIM:600886 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating total IgM, Decreased circulating IgA level, Transient neutropenia, Absent c... |
OMIM:619707 |
Immunodeficiency 43 |
|
Hypoproteinemia, Lung abscess, Decreased circulating beta-2-microglobulin level, Reduced natural ... |
OMIM:241600 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, Decreased ... |
OMIM:618987 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Cardiomyopathy, Dilated, 1Y |
|
Ventricular tachycardia, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Con... |
OMIM:611878 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Atrial Septal Defect, Ostium Primum Type |
|
Tricuspid regurgitation, Atrial fibrillation, Pulmonary arterial hypertension, Third heart sound,... |
ORPHA:99106 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating total IgM, Neutropenia, Decreased circulating IgA level, Decreased circulat... |
OMIM:613502 |
Naxos Disease |
|
Prolonged QRS complex, Abnormal morphology of right ventricular trabeculae, Right ventricular car... |
OMIM:601214 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... |
OMIM:246700 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormal immunoglobulin level, Decreased proportion of CD3-positive T cells, Decreased circulatin... |
ORPHA:276 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Autoimmune Lymphoproliferative Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... |
ORPHA:3261 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Elevated circulating C-reactive... |
ORPHA:2902 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
Autoimmune Hemolytic Anemia |
|
Arrhythmia, Fatigue, Abdominal pain, Congestive heart failure, Splenomegaly |
ORPHA:98375 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Diabetes mellitus, Arrhythmia, Cardiomyopathy, Hepatomegaly, Abdominal pain, ... |
OMIM:235200 |
Cataract 5, Multiple Types |
|
Zonular cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Nuclear cataract |
OMIM:116800 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG2 level, Reduced red cell adenosine dea... |
OMIM:102700 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportio... |
OMIM:613011 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Congestive heart failure, Wolff-Parkinson-White syndrome, Hepatomegaly, Hypertrophic cardiomyopathy |
OMIM:618234 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Increased circulating IgG level, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Splenomegaly |
OMIM:618495 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Increased circulating IgE level, Decreased circulating IgA level, Eosinophilia, Cutaneous abscess... |
OMIM:618282 |
Babesiosis |
|
Hepatomegaly, Fatigue, Congestive heart failure, Arthralgia, Myocardial infarction, Myalgia, Sple... |
ORPHA:108 |
Danon Disease |
|
Ventricular tachycardia, Wolff-Parkinson-White syndrome, Syncope, Severely reduced left ventricul... |
OMIM:300257 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Descemet Membrane Folds, Corneal guttata, Corneal dystrophy, Corneal stromal edema, Corneal degen... |
OMIM:136800 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy |
OMIM:608099 |
Cardiac Valvular Dysplasia, X-Linked |
|
Short chordae tendineae of the mitral valve, Mitral regurgitation, Aortic regurgitation, Tricuspi... |
OMIM:314400 |
Immunodeficiency 23 |
|
Hemolytic anemia, Abscess, Increased circulating IgE level, Lymphopenia, Increased circulating Ig... |
OMIM:615816 |
Aniridia 2 |
|
Cataract, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Liver abscess, Transient neutropenia |
OMIM:607676 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased proportion of memory B cells, Decreased circulating total IgM, Decreased circulating Ig... |
OMIM:618394 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Sinus tachycardia, Palpitations, Fatigue, Hypertension associated with pheoc... |
ORPHA:94080 |
Lead Poisoning |
|
Increased LDL cholesterol concentration, Anemia, Abnormality of humoral immunity, Increased circu... |
ORPHA:330015 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Reduced bone mineral density, Decreased circulating total IgM, Leukopenia, Joint stiffness, Lymph... |
OMIM:620210 |
Atransferrinemia |
|
Congestive heart failure |
OMIM:209300 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, Panhypogammaglobulinemia, Arthritis, T lymphocytopenia |
OMIM:601457 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Increased circulating IgE level, Lymphopenia, Aplasia of the thymus, Eosinophilia, Panhypogammagl... |
OMIM:602450 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplastic... |
OMIM:619313 |
Idiopathic Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Syncope, Palpitations, Tricuspid regurgitation, Right ventricula... |
ORPHA:275766 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract |
OMIM:116300 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Ventricular tachycardia, Ventricular couplet, Paroxysmal atrial fibrillation, Effort-induced poly... |
OMIM:604772 |
Cardiomyopathy, Dilated, 1S |
|
Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Ventricular tachycardia, Mitral r... |
OMIM:613426 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal guttata, Corneal dystrophy |
OMIM:615523 |
Combined Oxidative Phosphorylation Deficiency 22 |
|
Pulmonary arterial hypertension, Congestive heart failure |
OMIM:616045 |
Wild Type Abeta2M Amyloidosis |
|
Pain, Neck pain, Arrhythmia, Shoulder pain, Gastrointestinal hemorrhage, Congestive heart failure |
ORPHA:85446 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatosplenomegaly, Absent isohemagglutinin level, Decreased proportion of memory B cells, Decrea... |
OMIM:615559 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Neonatal hypoproteinemia, Lymphopenia |
OMIM:152800 |
Graves Disease, Susceptibility To, 1 |
|
Graves disease, Goiter, Increased circulating free T3, Decreased thyroid-stimulating hormone leve... |
OMIM:275000 |
Immunodeficiency 22 |
|
Decreased circulating total IgM, Anemia, Abscess, Decreased circulating IgA level, Decreased circ... |
OMIM:615758 |
Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Flexion contracture of toe, Increased circulating IgE level, Osteoporosi... |
ORPHA:3409 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Impaired Ig class switch recombination, Increased circulating IgA level, Hemolytic anemia, Neutro... |
OMIM:308230 |
Polymyositis |
|
Vasculitis, Arrhythmia, Abnormal mitral valve morphology, Hepatomegaly, Fatigue, Abdominal pain, ... |
ORPHA:732 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Situs inversus totalis, Atrial situs ambiguous, Wolff-Parkinson-White syndrome, Ventricular septa... |
ORPHA:216694 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Fourth heart sound, Right axis deviation, Sinus tachycardia, Elevated jugular venous pressure, Bi... |
OMIM:255160 |
Congenital Tricuspid Stenosis |
|
Pulmonary arterial hypertension, Hypotension, Bacterial endocarditis, Tricuspid regurgitation, Co... |
ORPHA:95459 |
Cardiomyopathy, Dilated, 2G |
|
Monomorphic ventricular tachycardia, Mitral regurgitation, Cerebral hemorrhage, Left atrial enlar... |
OMIM:619897 |
Pulmonary Hypertension, Primary, 5 |
|
Pulmonary arterial hypertension, Syncope, Fatigue, Right ventricular hypertrophy, Angina pectoris... |
OMIM:265400 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Anemia, Abnormal natural killer cell physiology, Hypertrigl... |
OMIM:613101 |
Familial Dyskinesia And Facial Myokymia |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:324588 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, Leukocytosis, Decreased circulating IgA level, Reduced natural k... |
OMIM:619281 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Neutropenia in presence of anti-neutropil antibodies, Abnormality of humoral immunity, Autoimmune... |
ORPHA:572 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Asymmetric septal hypertrophy, Ventricular tachycardia, Reduced left ventricular ejection fractio... |
OMIM:613838 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Rickets, Steatorrhea, Conjugated hyperbilirubinemia, Hypocholesterolemia, Splenomegaly |
OMIM:607765 |
Schnitzler Syndrome |
|
Increased bone mineral density, Leukocytosis, Anemia, Arthritis, Increased circulating IgM level,... |
ORPHA:37748 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Autoimmune thromb... |
OMIM:300853 |
Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Eosinophilia |
OMIM:270300 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Testicular atrophy, Diabetes mellitus, Arrhythmia, Cardiomyopathy, Elevated jugular venous pressu... |
ORPHA:465508 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Increased circulating IgA level, Leukopenia, Joint stiffness, Anemia, Lymphopenia, Increased circ... |
OMIM:615934 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Ventricular tachycardia, Syncope, Palpitations, Bidirectional ventricular tachyca... |
OMIM:614021 |
Immunodeficiency 104 |
|
Splenomegaly, T lymphocytopenia |
OMIM:608971 |
Immunodeficiency 32B |
|
Impaired oxidative burst, Anemia, Abnormal circulating IgG level, Eosinophilia, Thrombocytopenia,... |
OMIM:226990 |
Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Pulmonic stenosis, Hepatomegaly, Chylopericardium, Tricuspid reg... |
ORPHA:2414 |
Non-Involuting Congenital Hemangioma |
|
Congestive heart failure, Telangiectasia of the skin |
ORPHA:141179 |
Immunodeficiency 70 |
|
Decreased circulating total IgM, Decreased circulating total IgA, Decreased circulating total IgG... |
OMIM:618969 |
Wiskott-Aldrich Syndrome |
|
Increased circulating IgA level, Decreased circulating total IgM, Impaired lymphocyte transformat... |
OMIM:301000 |
Cataract 31, Multiple Types |
|
Nuclear cataract, Anterior subcapsular cataract, Posterior subcapsular cataract |
OMIM:605387 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... |
OMIM:612692 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia pupillae, Ectopia lentis, Persistent pupillary membrane, Iris transillumination... |
OMIM:225200 |
Immunodeficiency 57 With Autoinflammation |
|
Partial absence of specific antibody response to tetanus vaccine, Reduced natural killer cell cou... |
OMIM:618108 |
Thrombocytopenia 1 |
|
Increased circulating IgA level, Intermittent thrombocytopenia, Increased circulating IgE level, ... |
OMIM:313900 |
Cednik Syndrome |
|
Congestive heart failure, Hypogonadism |
ORPHA:66631 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Craniosynostosis, Increased circulating IgE level, Osteopenia, Eosinophilia, Osteomyelitis, Joint... |
ORPHA:2314 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Asymmetric septal hypertrophy, Chest pain, Ventricular tachycardia, Left ventricular hypertrophy,... |
OMIM:608758 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Fatigue, Congestive heart failure, Arthralgia, Tachycardia, Splenomegaly |
ORPHA:90033 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Arrhythmia, Congestive heart failure |
ORPHA:157973 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Craniosynostosis, Hypereosinophilia, Decreased circulating total IgM, Increased circulating IgE l... |
ORPHA:508533 |
Immunodeficiency 19 |
|
Abnormal B cell morphology, Abnormal natural killer cell morphology, T lymphocytopenia |
OMIM:615617 |
Immunodeficiency 11 |
|
Reduced antigen-specific T cell proliferation, Monocytopenia, Agammaglobulinemia, Decreased circu... |
OMIM:615206 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, Palpitations, First degree atrioventricular block, Permanent atri... |
OMIM:617280 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Prolonged QTc interval, Hypopituitarism, Cerebral hemorrhage, Left ventricular hypertrophy, Synco... |
ORPHA:90065 |
Leishmaniasis |
|
Abnormal macrophage morphology, Leukopenia, Increased circulating antibody level, Anemia, Thrombo... |
ORPHA:507 |
Spinal Arteriovenous Metameric Syndrome |
|
Bone pain, Fatigue, Gangrene, Congestive heart failure, Arthralgia |
ORPHA:53721 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas... |
OMIM:614699 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Hepatosplenomegaly, Leukopenia, Partial absence of specific antibody response to Haemophilus infl... |
OMIM:618986 |
Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Chronic decreased cirulating IgG2, Abnormal B cell morphology, Decre... |
OMIM:615607 |
Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... |
OMIM:613493 |
Peroxisome Biogenesis Disorder 3B |
|
Elevated circulating phytanic acid concentration, Steatorrhea, Osteoporosis, Hypocholesterolemia |
OMIM:266510 |
Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Congestive heart failure, Hepatomegaly, Splenomegaly |
OMIM:269920 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Steatorrhea, Decreased circulating IgA level, Osteopenia, Tremor, Intention tremor, Decreased cir... |
OMIM:212065 |
Laubry-Pezzi Syndrome |
|
Chest pain, Right ventricular outlet tract obstruction, Subarterial ventricular septal defect, Ve... |
ORPHA:99094 |
American Trypanosomiasis |
|
Myocarditis, Arrhythmia, Cardiomyopathy, Achalasia, Hepatomegaly, Abdominal pain, Congestive hear... |
ORPHA:3386 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Bowel incontinence, Arrhythmia, Hepatomegaly, Myocardial infarction, Congestive hea... |
ORPHA:330001 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Eosinophilia, Lymph... |
ORPHA:911 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Increased circulating IgE level |
OMIM:616069 |
Cataract 15, Multiple Types |
|
Nuclear cataract, Cortical cataract, Lamellar cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
|
Nuclear cataract, Cortical cataract, Lamellar cataract |
OMIM:611391 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Low-output congestive heart failure, Hypertrophic cardiomyopathy |
ORPHA:91130 |
Rapidly Involuting Congenital Hemangioma |
|
Congestive heart failure, Telangiectasia of the skin |
ORPHA:141184 |
Peters Anomaly |
|
Subcapsular cataract, Thinning of Descemet membrane, Anterior synechiae of the anterior chamber, ... |
ORPHA:708 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
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Cataract, Microcornea |
OMIM:619082 |
Long Qt Syndrome 15 |
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Cardiac arrest, Prolonged QTc interval, Left ventricular noncompaction, Syncope, Ventricular bige... |
OMIM:616249 |
Anterior Segment Dysgenesis 1 |
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Opacification of the corneal stroma, Posterior polar cataract, Microcornea, Peters anomaly, Ocula... |
OMIM:107250 |
Chronic Atrial And Intestinal Dysrhythmia |
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Mitral regurgitation, Pulmonic stenosis, Left atrial enlargement, Sick sinus syndrome, Bicuspid a... |
OMIM:616201 |
3-Methylglutaconic Aciduria, Type V |
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Noncompaction cardiomyopathy, Atrial septal defect, Sudden cardiac death, Congestive heart failur... |
OMIM:610198 |
Multiple Myeloma |
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Increased circulating IgA level, Pathologic fracture, Anemia, Hyperproteinemia, Osteopenia, Incre... |
ORPHA:29073 |
Anterior Segment Dysgenesis 7 |
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Cataract, Iris coloboma, Buphthalmos, Anterior synechiae of the anterior chamber, Sclerocornea, C... |
OMIM:269400 |
Secondary Intestinal Lymphangiectasia |
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Decreased circulating total IgM, Secondary hyperaldosteronism, Decreased prealbumin level, Decrea... |
ORPHA:90363 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Neutropenia in presence of anti-neutropil antibodies, Abnormal blood ion concentration, Increased... |
ORPHA:37042 |
Atrial Fibrillation, Familial, 10 |
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Paroxysmal atrial fibrillation, Left atrial enlargement, Left ventricular hypertrophy, Tricuspid ... |
OMIM:614022 |
Stuve-Wiedemann Syndrome 2 |
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Pulmonary arterial hypertension, Congestive heart failure |
OMIM:619751 |
Pancreatic Lipase Deficiency |
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Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
Immunodeficiency 76 |
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T lymphocytopenia, B lymphocytopenia, Lymphopenia, Splenomegaly |
OMIM:619164 |
Myopia 28, Autosomal Recessive |
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Cataract |
OMIM:619781 |
Autoinflammation With Arthritis And Dyskeratosis |
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Increased circulating IgA level, Hypereosinophilia, Autoimmune hemolytic anemia, Increased circul... |
OMIM:617388 |
Tempi Syndrome |
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Increased circulating IgG level, Increased hematocrit, Polycythemia |
ORPHA:284227 |
Corneal Endothelial Dystrophy |
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Abnormal Descemet membrane morphology, Increased corneal thickness, Opacification of the corneal ... |
OMIM:217700 |
Brugada Syndrome |
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Cardiac arrest, ST segment elevation, Syncope, Supraventricular tachycardia, Trifascicular block,... |
ORPHA:130 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
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Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Lymphopenia, ... |
OMIM:619846 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Hepatosplenomegaly, Decreased circulating total IgM, Abnormal B cell count, Decreased proportion ... |
ORPHA:331206 |
Dk1-Cdg |
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Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Arrhythmia, Congestive heart failure, D... |
ORPHA:91131 |
Combined Oxidative Phosphorylation Defect Type 23 |
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Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Severely reduced left ventricular e... |
ORPHA:444013 |
Chylomicron Retention Disease |
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Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia, Acanthocytosis |
ORPHA:71 |
Boutonneuse Fever |
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Increased circulating IgG level, Thrombocytopenia, Leukopenia, Increased circulating IgM level |
ORPHA:83313 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
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Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... |
OMIM:616834 |
Immune-Mediated Necrotizing Myopathy |
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Myocarditis, Raynaud phenomenon, Palpitations, Congestive heart failure, Arthralgia, Myalgia, Che... |
ORPHA:206569 |
Sick Sinus Syndrome 2 |
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Cardiac arrest, Prolonged QTc interval, Paroxysmal atrial fibrillation, Left ventricular hypertro... |
OMIM:163800 |
Aortic Arch Interruption |
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Ventricular septal defect, Left ventricular outflow tract obstruction, Abnormal heart morphology,... |
ORPHA:2299 |
Alg12-Cdg |
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Camptodactyly, Partial absence of specific antibody response to Haemophilus influenzae type b (Hi... |
ORPHA:79324 |
Aspergillosis |
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Increased circulating IgE level, Neutropenia, Osteomyelitis, Eosinophilia |
ORPHA:1163 |
Cardiogenic Shock |
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Cardiac arrest, Abnormal EKG, ST segment elevation, Mitral regurgitation, Hypotension, Elevated j... |
ORPHA:97292 |
Refsum Disease, Classic |
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Arrhythmia, Cardiomyopathy, Cardiomegaly, Congestive heart failure |
OMIM:266500 |
Fabry Disease |
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Delayed puberty, Left ventricular hypertrophy, Arrhythmia, Hypertension, Abdominal pain, Transien... |
OMIM:301500 |
Selective Igm Deficiency |
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Neutropenia in presence of anti-neutropil antibodies, Decreased circulating total IgM, Decreased ... |
ORPHA:331235 |
Carnitine Deficiency, Systemic Primary |
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Mitral regurgitation, Cardiomyopathy, Hepatomegaly, Congestive heart failure, Hypertrophic cardio... |
OMIM:212140 |
Polycythemia Vera |
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Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit... |
OMIM:263300 |
Congenital Heart Defects, Multiple Types, 3 |
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Right bundle branch block, Tetralogy of Fallot, Atrial septal defect, Abnormal heart morphology, ... |
OMIM:614954 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
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Cerebral hemorrhage, Pheochromocytoma, Congestive heart failure, Positive regitine blocking test,... |
OMIM:171420 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
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Mitral regurgitation, Tricuspid regurgitation, Atrial flutter, Aortic valve stenosis, Congestive ... |
ORPHA:324410 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Leukocytosis, Hypochromic anemia, Increased circulating IgE level, Increased circulating IgG leve... |
OMIM:618213 |
Cardiac Diverticulum |
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Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Abnormal heart morphology, ... |
ORPHA:1686 |
Tako-Tsubo Cardiomyopathy |
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Prolonged QTc interval, Angina pectoris, Bradycardia, Atrial fibrillation, Mitral regurgitation, ... |
ORPHA:66529 |
Netherton Syndrome |
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Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia |
OMIM:256500 |
X-Linked Lymphoproliferative Disease |
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Hemophagocytosis, Histiocytosis, Increased circulating IgM level, B lymphocytopenia, Hepatospleno... |
ORPHA:2442 |
Barth Syndrome |
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Arrhythmia, Exercise intolerance, Fatigue, Tricuspid regurgitation, Congestive heart failure, Inc... |
OMIM:302060 |
Immunodeficiency 13 |
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Decreased CD4:CD8 ratio, Lymphopenia, B lymphocytopenia, Decreased proportion of CD4-positive hel... |
OMIM:615518 |
Immunodeficiency, Common Variable, 14 |
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Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:617765 |
Immunodeficiency 36 With Lymphoproliferation |
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Decreased proportion of naive CD8 T cells, Chronic lymphatic leukemia, Decreased circulating IgA ... |
OMIM:616005 |
Mulibrey Nanism |
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Hepatomegaly, Congestive heart failure, Pericardial constriction, Myocardial fibrosis, Cardiomegaly |
OMIM:253250 |
Whim Syndrome 1 |
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Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia |
OMIM:193670 |
Hb Bart'S Hydrops Fetalis |
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Pericarditis, Congestive heart failure, Hepatomegaly, Splenomegaly |
ORPHA:163596 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
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Abnormal pulmonary valve morphology, Arrhythmia, Hepatomegaly, Congestive heart failure, Hypertro... |
ORPHA:1194 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
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Increased circulating IgA level, Thrombocytopenia |
OMIM:314000 |
Immunodeficiency, Common Variable, 1 |
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Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... |
OMIM:607594 |
Renal Glucosuria |
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Polyphagia, Polydipsia |
OMIM:233100 |
Immunodeficiency With Hyper-Igm, Type 2 |
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Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... |
OMIM:605258 |
Collagenoma, Familial Cutaneous |
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Vasculitis, Right ventricular cardiomyopathy, Cardiomyopathy, Tricuspid regurgitation, Congestive... |
OMIM:115250 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Abnormal erythrocyte morphology, Decreased LDL cholesterol concentration, Abetalipoproteinemia, A... |
ORPHA:96180 |
Pediatric-Onset Graves Disease |
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Graves disease, Goiter, Sinus tachycardia, Palpitations, Hypertension, Hepatomegaly, Puberty and ... |
ORPHA:525731 |
Squalene Synthase Deficiency |
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Decreased LDL cholesterol concentration, Knee flexion contracture, Elevated circulating methylsuc... |
OMIM:618156 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
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Increased circulating IgE level |
OMIM:618985 |
Cataract 23, Multiple Types |
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Lamellar cataract |
OMIM:610425 |
Attrv30M Amyloidosis |
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Arrhythmia, Cardiomyopathy, Cardiomegaly, Atrioventricular block |
ORPHA:85447 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
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Hepatosplenomegaly, Increased circulating antibody level, Decreased proportion of CD3-positive T ... |
ORPHA:169160 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
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Congestive heart failure, Dilated cardiomyopathy |
OMIM:606703 |
Primary Lipodystrophy |
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Cardiomyopathy, Hypertension, Angina pectoris, Type II diabetes mellitus, Congestive heart failur... |
ORPHA:90970 |
Primary Intestinal Lymphangiectasia |
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Hypoproteinemia, Decreased circulating total IgM, Anemia, Decreased proportion of CD3-positive T ... |
ORPHA:90362 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
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Congestive heart failure, Abnormal heart morphology, Hypertrophic cardiomyopathy |
ORPHA:70472 |
Atrial Septal Defect 6 |
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Bradycardia, Atrial fibrillation, Atrial septal defect |
OMIM:613087 |
Ataxia-Telangiectasia |
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Hypoplasia of the thymus, Decreased circulating IgG2 level, Elevated circulating alpha-fetoprotei... |
OMIM:208900 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Increased circulating antibody level, Anemia, Lymphopenia, Arthritis, Hypertriglyceridemia, Throm... |
OMIM:617591 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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ST segment elevation, Prolonged QRS complex, Hypotension, Enlarged kidney, Increased myocardial g... |
OMIM:261740 |
Klippel-Trénaunay Syndrome |
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Atrial septal defect, Pulmonary embolism, Hepatomegaly, Abnormal tricuspid valve morphology, Gast... |
ORPHA:90308 |
Aniridia And Absent Patella |
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Cataract, Aniridia |
OMIM:106220 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
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Cerebral hemorrhage, Sinus tachycardia, Palpitations, Adrenal pheochromocytoma, Fatigue, Hyperten... |
ORPHA:276621 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Impaired lymphocyte transformation with phytohemagglutinin, Abnormality of B cell physiology, Abs... |
OMIM:600802 |
Familial Short Qt Syndrome |
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Syncope, Palpitations, Shortened QT interval, Sudden cardiac death, Atrioventricular block, Ventr... |
ORPHA:51083 |
Agammaglobulinemia, X-Linked |
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Decreased circulating total IgM, Anemia, Neutropenia, Decreased circulating IgA level, Decreased ... |
OMIM:300755 |
Maternal Uniparental Disomy Of Chromosome X |
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Primary gonadal insufficiency, Congestive heart failure |
ORPHA:261519 |
Sitosterolemia 1 |
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Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Reduced haptoglobin lev... |
OMIM:210250 |
Timothy Syndrome |
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Pulmonary arterial hypertension, Ventricular tachycardia, Ventricular septal defect, Tetralogy of... |
OMIM:601005 |
Cornea Guttata With Anterior Polar Cataracts |
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Anterior polar cataract |
OMIM:121390 |
Immunodeficiency 96 |
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Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Decreased circulati... |
OMIM:619774 |
Caffey Disease |
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Calvarial hyperostosis, Increased circulating antibody level, Cortical thickening of long bone di... |
ORPHA:1310 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Decreased circulating total IgM, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decrea... |
OMIM:616100 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
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Cardiomyopathy, Fatigue, Congestive heart failure, Myalgia, Cardiomegaly |
OMIM:619259 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
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Diabetes insipidus, Congestive heart failure, Atrial septal defect |
ORPHA:500533 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
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Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Absent ci... |
OMIM:619705 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
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Hemophagocytosis, Bone marrow hypocellularity, Autoimmune hemolytic anemia, Decreased circulating... |
OMIM:301078 |
Immunodeficiency 92 |
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Decreased proportion of class-switched memory B cells, Leukocytosis, Partial absence of specific ... |
OMIM:619652 |
Sodium-Dependent Multivitamin Transporter Deficiency |
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Decreased circulating IgG level |
OMIM:618973 |
Adult Idiopathic Neutropenia |
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Lymphopenia, Increased circulating IgM level, Monocytopenia, Abnormal neutrophil count, Monocytos... |
ORPHA:2688 |
Pseudoxanthoma Elasticum |
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Hypertension, Intermittent claudication, Weak pulse, Angina pectoris, Restrictive cardiomyopathy,... |
OMIM:264800 |
Pparg-Related Familial Partial Lipodystrophy |
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Maternal diabetes, Diabetes mellitus, Hypertension, Hepatomegaly, Congestive heart failure, Hyper... |
ORPHA:79083 |
Carney Complex, Type 1 |
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Elevated circulating growth hormone concentration, Thyroid follicular hyperplasia, Pheochromocyto... |
OMIM:160980 |
Cardiomyopathy, Familial Hypertrophic, 17 |
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Ventricular tachycardia, Left ventricular hypertrophy, Palpitations, Angina pectoris, Hypertrophi... |
OMIM:613873 |
Immunodeficiency 81 |
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Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... |
OMIM:619374 |
Absence Of The Pulmonary Artery |
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Abnormal EKG, Pulmonary arterial hypertension, Chest pain, Systolic heart murmur, Reduced left ve... |
ORPHA:980 |
Mitochondrial Trifunctional Protein Deficiency |
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Mitral regurgitation, Left ventricular hypertrophy, Hypoparathyroidism, Cardiomyopathy, Arrhythmi... |
ORPHA:746 |
Aorta Coarctation |
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Pulmonary arterial hypertension, Hypoplastic left heart, Tetralogy of Fallot, Hypertension, Perim... |
ORPHA:1457 |
Ghosal Hematodiaphyseal Dysplasia |
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Increased bone mineral density, Leukopenia, Bone marrow hypocellularity, Refractory anemia, Throm... |
OMIM:231095 |
Liddle Syndrome |
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Arrhythmia, Hypertension, Cerebral ischemia, Fatigue |
ORPHA:526 |
Long Qt Syndrome 16 |
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Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Perimembranous ve... |
OMIM:618782 |
Immunodeficiency With Hyper-Igm, Type 5 |
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Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... |
OMIM:608106 |
Cataract 40 |
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Nuclear cataract, Sutural cataract |
OMIM:302200 |
Potocki-Lupski Syndrome |
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Hypocholesterolemia |
OMIM:610883 |
Classic Multiminicore Myopathy |
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Mitral valve prolapse, Right ventricular hypertrophy, Congestive heart failure, Right ventricular... |
ORPHA:324604 |
Hereditary Pheochromocytoma-Paraganglioma |
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Elevated calcitonin, Cerebral hemorrhage, Sinus tachycardia, Palpitations, Adrenal pheochromocyto... |
ORPHA:29072 |
Abetalipoproteinemia |
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Reticulocytosis, Anemia, Decreased LDL cholesterol concentration, Steatorrhea, Osteopenia, Acanth... |
ORPHA:14 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
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Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... |
OMIM:614069 |
Gaucher Disease Type 1 |
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Increased bone mineral density, Osteolysis, Leukopenia, Increased circulating antibody level, Ane... |
ORPHA:77259 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
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Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Epsilon wave, Fibrofatty replacem... |
OMIM:609040 |
Cataract 24 |
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Anterior polar cataract |
OMIM:601202 |
Eosinophilic Granulomatosis With Polyangiitis |
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Myocarditis, Vasculitis, Recurrent intrapulmonary hemorrhage, Abnormal pericardium morphology, En... |
ORPHA:183 |
Amoebic Keratitis |
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Cataract, Corneal perforation, Corneal ulceration, Abnormal corneal epithelium morphology, Puncta... |
ORPHA:67043 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Hepatosplenomegaly, Decreased circulating total IgM, Impaired lymphocyte transformation with phyt... |
ORPHA:35078 |
Microcephalic Primordial Dwarfism, Toriello Type |
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