Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber, Ocular hypertension |
OMIM:618880 |
Lymphoid System Deterioration, Progressive |
|
Decreased circulating total IgM, Abnormal T cell morphology, Decreased circulating IgG level, Lym... |
OMIM:247630 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Glaucoma 3, Primary Congenital, E |
|
Megalocornea, Ocular hypertension |
OMIM:617272 |
Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Myocardial eosinophilic infiltration, Anemia, Thrombocytopenia |
OMIM:131400 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Peters Anomaly |
|
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... |
ORPHA:708 |
Immunodeficiency 24 |
|
Defective T cell proliferation, Decreased circulating IgG level, Lymphopenia, Decreased specific ... |
OMIM:615897 |
Weill-Marchesani Syndrome 4 |
|
Phakodonesis, Iridodonesis, Ectopia lentis, Ocular hypertension |
OMIM:613195 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Immunodeficiency 8 |
|
Hyperactivity, Lymphopenia |
OMIM:615401 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Posterior Polymorphous Corneal Dystrophy |
|
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... |
ORPHA:98973 |
Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia, Endocardial ... |
OMIM:607685 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... |
OMIM:616452 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... |
OMIM:122000 |
Exfoliation Syndrome |
|
Lens subluxation, Anisocoria, Asymmetry of intraocular pressure, Mydriasis, Pseudoexfoliation, Ca... |
OMIM:177650 |
Anterior Segment Dysgenesis 5 |
|
Posterior embryotoxon, Microcornea, Peters anomaly, Rieger anomaly, Hypoplasia of the iris, Devel... |
OMIM:604229 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Myeloproliferative disorder, Eosinophilia |
OMIM:131440 |
Iridocorneal Endothelial Syndrome |
|
Hypoplastic iris stroma, Polycoria, Corneal stromal edema, Ectopia pupillae, Iris nevus, Uveal ec... |
ORPHA:64734 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle, Ocular hypertension |
OMIM:156600 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Microphthalmia, Isolated 6 |
|
Microcornea, Ocular hypertension |
OMIM:613517 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
Anterior Segment Dysgenesis 1 |
|
Ocular hypertension, Posterior polar cataract, Opacification of the corneal stroma, Microcornea, ... |
OMIM:107250 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, Decreased ... |
OMIM:618987 |
Glaucoma 1, Primary Open Angle, C |
|
Ocular hypertension |
OMIM:601682 |
Anterior Segment Dysgenesis 2 |
|
Congenital aphakia, Corneal opacity, Ocular hypertension, Microcornea, Peters anomaly, Cataract, ... |
OMIM:610256 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Decreased glomerular filtration rate, Renal interstitial amyloid deposits, Elevated... |
ORPHA:85450 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... |
OMIM:617315 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619707 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Anterior Segment Dysgenesis 7 |
|
Ocular hypertension, Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Scle... |
OMIM:269400 |
Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis |
ORPHA:26137 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level, Erythroid hypoplasia |
OMIM:242880 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Elevated aldolase level, Type 2 muscle fiber a... |
ORPHA:99845 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Nephrolithiasis, Hypokalemia, Intracranial hemorrhage, Ventricular septal defect, Adrenal hyperpl... |
ORPHA:369929 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:619924 |
Late-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Orthostatic hypotension, Elevated serum 11-deoxycortisol... |
ORPHA:556037 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Early-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Orthostatic hypotension, Elevated serum 11-deoxycortisol... |
ORPHA:556030 |
Hyperaldosteronism, Familial, Type I |
|
Abnormality of the urinary system, Adrenal hyperplasia, Adrenogenital syndrome, Decreased circula... |
OMIM:103900 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Decreased glomerular fi... |
ORPHA:470 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Decreased circulating aldosterone level, Orthostatic hypotension, Increased circulating 18-hydrox... |
OMIM:610600 |
Autosomal Dominant Polycystic Kidney Disease |
|
Pituitary growth hormone cell adenoma, Decreased glomerular filtration rate, Hematuria, Enlarged ... |
ORPHA:730 |
Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
ORPHA:517 |
Familial Hyperaldosteronism Type Iii |
|
Hypokalemia, Left ventricular hypertrophy, Intracranial hemorrhage, Epistaxis, Hypercalciuria, Ad... |
ORPHA:251274 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Peters anomaly, Iris coloboma, Ocular anterior segment dysgenesis, Ocular hypertension |
OMIM:610023 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Pupillary Membrane, Persistence Of |
|
Megalocornea, Developmental cataract, Persistent pupillary membrane |
OMIM:178900 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy, Elevated circulating creatine kin... |
OMIM:617713 |
Neovascular Glaucoma |
|
Ocular hypertension, Corneal stromal edema, Abnormal anterior chamber morphology, Abnormal uvea m... |
ORPHA:94058 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Microcornea, Ocular hypertension |
OMIM:602499 |
Weill-Marchesani Syndrome 3 |
|
Microspherophakia, Shallow anterior chamber, Ectopia lentis, Ocular hypertension |
OMIM:614819 |
Corticosterone Methyloxidase Type I Deficiency |
|
Decreased circulating aldosterone level, Increased circulating renin level, Hypotension, Hyponatr... |
OMIM:203400 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Aga... |
OMIM:613500 |
Adrenocortical Carcinoma |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... |
ORPHA:1501 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hyperammonemia, Elevated creatine... |
ORPHA:159 |
Immunodeficiency 7 |
|
Hypereosinophilia |
OMIM:615387 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Partial absen... |
OMIM:301082 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:617765 |
Adenine Phosphoribosyltransferase Deficiency |
|
Nephrolithiasis, Dysuria, Chronic kidney disease, Abnormal enzyme/coenzyme activity, Macroscopic ... |
ORPHA:976 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating aldosterone level, Hypokalemia, Stroke, Left ventricular hypertrophy, Abnor... |
ORPHA:320 |
Acute Adrenal Insufficiency |
|
Stroke, Decreased circulating cortisol level, Orthostatic hypotension, Increased circulating reni... |
ORPHA:95409 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating renin level, Hypo... |
OMIM:177735 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Methylmalonic acid... |
ORPHA:859 |
Immunodeficiency 50 |
|
Neutropenia, Decreased circulating antibody level, Lymphopenia |
OMIM:300988 |
Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypomagnesemia, Hypokalemia, Hy... |
OMIM:601198 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... |
OMIM:613493 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperactive renin-angiotensin system, Hyperaldosteronism, Hypotension, Hyponatremia, Pseudohypoal... |
OMIM:264350 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia |
OMIM:615214 |
Immunodeficiency 11 |
|
Decreased circulating antibody level |
OMIM:615206 |
Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Stroke-like episode, Hyper... |
ORPHA:563 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Increased serum testosterone level, Decreased circulating aldosterone level, Adrenocorticotropic ... |
ORPHA:90791 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... |
OMIM:540000 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypokalemia, Polyuria, Hypercalciuria, Adrenal hyperplasia, Decreased circulating renin level, Hy... |
OMIM:613677 |
Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Hemophagocytosis, Foam cells, Decreased proportion ... |
OMIM:619802 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Left ventricular hypertrophy, Increased urine succinate level, Elevated circulating... |
OMIM:619048 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M... |
OMIM:153600 |
Macrosomia Adiposa Congenita |
|
Eosinophilia |
OMIM:248100 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Nephrolithiasis, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pitu... |
ORPHA:189427 |
Andersen-Tawil Syndrome |
|
Renal tubular dysfunction, Torsade de pointes, Abnormal T-wave, Premature ventricular contraction... |
ORPHA:37553 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Hemorrhagic Fever-Renal Syndrome |
|
Melena, Decreased glomerular filtration rate, Hematuria, Elevated circulating creatinine concentr... |
ORPHA:340 |
Aapoaiv Amyloidosis |
|
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Elevated circulating crea... |
ORPHA:439232 |
Familial Hypoaldosteronism |
|
Adrenal insufficiency, Decreased circulating aldosterone level, Proximal renal tubular acidosis, ... |
ORPHA:427 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Abnormal lymphocyte morphology |
OMIM:609529 |
Immunoglobulin M, Level Of |
|
Decreased circulating total IgM |
OMIM:308250 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Lcat Deficiency |
|
Premature coronary artery atherosclerosis, Decreased glomerular filtration rate, Decreased circul... |
ORPHA:650 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Cutaneous abscess, Increased circulating interleukin 6 concentration, Decreased circulating IgG l... |
OMIM:618944 |
Hyperlysinemia, Type I |
|
Anemia, Hyperactivity |
OMIM:238700 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Decreased circula... |
OMIM:300400 |
Sneddon Syndrome |
|
Bicuspid aortic valve, Stroke, Cerebral hemorrhage, Lymphopenia, Decreased circulating total IgM,... |
OMIM:182410 |
Loeffler Endocarditis |
|
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... |
ORPHA:75566 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia |
ORPHA:157991 |
Bartter Syndrome, Type 3 |
|
Hyperactive renin-angiotensin system, Hypokalemia, Increased urinary potassium, Polyuria, Hypocal... |
OMIM:607364 |
East Syndrome |
|
Hypomagnesemia, Hypokalemia, Abnormal urinary electrolyte concentration, Increased circulating re... |
ORPHA:199343 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Hypovolemic shock, Recurrent tonsillitis, Glucocortocoid-insensitive primary hype... |
ORPHA:171876 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Decreased circulating IgG level, Tricuspid regurgitation, Decreas... |
OMIM:619705 |
Trimethylaminuria |
|
Splenomegaly, Tachycardia, Neutropenia, Trimethylaminuria, Hypertension, Anemia |
OMIM:602079 |
Systemic Capillary Leak Syndrome |
|
Pancreatitis, Leukocytosis, Abnormal renal tubule morphology, Arrhythmia, Myocarditis, Hypotensio... |
ORPHA:188 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis |
OMIM:247800 |
Glaucoma 3, Primary Congenital, A |
|
Buphthalmos, Late onset congenital glaucoma, Ocular hypertension |
OMIM:231300 |
Immunodeficiency 44 |
|
Decreased circulating IgA level, Lymphopenia, Abnormal circulating IgG level, Decreased circulati... |
OMIM:616636 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level, Endocardial fibrosis, Absence of lymph... |
OMIM:235550 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia |
OMIM:616873 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypokalemia, Abnormal T-wave, Neoplasm of the adrenal gland, Increased urinary potassium, Increas... |
ORPHA:231625 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... |
OMIM:212050 |
Oligomeganephronia |
|
Secundum atrial septal defect, Renal tubular atrophy, Decreased glomerular filtration rate, Pulmo... |
ORPHA:2260 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Secundum atrial septal defect, ... |
OMIM:611926 |
Idiopathic Anterior Uveitis |
|
Posterior synechiae of the anterior chamber, Nuclear cataract, Posterior subcapsular cataract, Oc... |
ORPHA:280914 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:612692 |
Gitelman Syndrome |
|
Hypomagnesemia, Hypokalemia, Polyuria, Hypocalciuria, Nocturia, Palpitations, Increased circulati... |
OMIM:263800 |
Acute Monoblastic/Monocytic Leukemia |
|
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopat... |
ORPHA:514 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:613502 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... |
ORPHA:276575 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Gaisböck Syndrome |
|
Angina pectoris, Stroke, Increased circulating renin level, Myocardial infarction, Hyperuricemia,... |
ORPHA:90041 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Abnormal mitral valve morphology, Nephrotic syndrome, Anemia, Nephropathy, Cerebral artery athero... |
ORPHA:1192 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Abnormal coron... |
ORPHA:860 |
Sepsis In Premature Infants |
|
Increased circulating interleukin 6 concentration, Decreased liver function, Elevated circulating... |
ORPHA:90051 |
Glycogen Storage Disease Ia |
|
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... |
OMIM:232200 |
Addison Disease |
|
Thymoma, Decreased circulating cortisol level, Orthostatic hypotension, Increased circulating ren... |
ORPHA:85138 |
Glycogen Storage Disease Ib |
|
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... |
OMIM:232220 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... |
OMIM:601493 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hydrocephalus, Increased CSF lactate, Cerebral hemorrhage, Hyperglycorrhachia, ST segment depress... |
ORPHA:90065 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Elevated circulating creatine kinase concentration, Organic aciduri... |
OMIM:255100 |
Hypokalemic Tubulopathy And Deafness |
|
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting |
OMIM:619406 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... |
OMIM:607271 |
Glaucoma 1, Open Angle, F |
|
Ocular hypertension |
OMIM:603383 |
Myotonic Dystrophy 2 |
|
Type II diabetes mellitus, Decreased circulating IgG level, Premature ventricular contraction, Ty... |
OMIM:602668 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... |
OMIM:619824 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Familial Hyperaldosteronism Type I |
|
Hypokalemia, Intracranial hemorrhage, Adrenal hyperplasia, Abnormal circulating renin, Hypertensi... |
ORPHA:403 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr... |
ORPHA:70593 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... |
ORPHA:289548 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Abnormality of the shoulder girdle musculature, Left ventricular hypertrophy, Quadriceps muscle w... |
ORPHA:206546 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... |
ORPHA:169079 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Anemia, Impaired renal uric acid cle... |
OMIM:174000 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... |
ORPHA:276580 |
Maternally-Inherited Diabetes And Deafness |
|
Type II diabetes mellitus, Abnormal circulating lipid concentration, Arrhythmia, Proteinuria, Ren... |
ORPHA:225 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... |
OMIM:612158 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Ventriculomegaly,... |
OMIM:115210 |
Familial Hyperaldosteronism Type Ii |
|
Hypokalemia, Intracranial hemorrhage, Adrenal hyperplasia, Abnormal circulating renin, Hypertensi... |
ORPHA:404 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... |
ORPHA:168558 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... |
OMIM:608106 |
Preeclampsia |
|
Chronic kidney disease, Abnormality of the hepatic vasculature, Abnormality of the kidney, Elevat... |
ORPHA:275555 |
Halothane Hepatitis |
|
Eosinophilia |
OMIM:234350 |
X-Linked Lymphoproliferative Disease |
|
Increased circulating ferritin concentration, Hemophagocytosis, Hepatic failure, Cervical lymphad... |
ORPHA:2442 |
Lujo Hemorrhagic Fever |
|
Elevated circulating C-reactive protein concentration, Lymphopenia, Leukocytosis, Leukopenia, Ful... |
ORPHA:319213 |
Lassa Fever |
|
Oliguria, Shock, Jaundice, Increased circulating IgM level |
ORPHA:99824 |
Gitelman Syndrome |
|
Graves disease, Type I diabetes mellitus, Proteinuria, Primary hyperaldosteronism, Renal potassiu... |
ORPHA:358 |
Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Nephrotic syndrome, Decreased serum complement C3, Myocardial infarction,... |
ORPHA:54370 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Global glomerulosclerosis, Hypokalemia, Decreased glomerular filtration rate, Reduced renal corti... |
OMIM:602522 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega... |
OMIM:607594 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Hepatomegaly, Hypertrophic cardiomyopathy, Excessive insulin respo... |
ORPHA:276556 |
Fabry Disease |
|
Angina pectoris, Anemia, Left ventricular hypertrophy, Arrhythmia, Hypohidrosis, Myocardial infar... |
OMIM:301500 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Adrenal insufficiency, Pancreatitis, Aminoaciduria, Elevated circulating creatine kinase concentr... |
OMIM:619386 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... |
OMIM:615513 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Splenomegaly, Tachycardia, Increased urinary porphobilinogen, Elevated urinary delt... |
OMIM:121300 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Primary Unilateral Adrenal Hyperplasia |
|
Hypokalemia, Increased urinary potassium, Palpitations, Adrenal hyperplasia, Decreased circulatin... |
ORPHA:231580 |
Infection-Related Hemolytic Uremic Syndrome |
|
Increased circulating interleukin 6 concentration, Hypocalcemia, Pancreatitis, Nephrotic range pr... |
ORPHA:544482 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Nephrolithiasis, Hypokalemia, Left ventricular hypertrophy, Ventricular septal defect, Biventricu... |
OMIM:615474 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Flexion contracture, Micropenis, Skeletal muscle hypertrophy, Left ventricular hypertrophy, Macro... |
OMIM:613156 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
8p23.1 deletion syndrome |
|
Abnormal heart morphology, Atrioventricular canal defect, Hyperactivity, Atrial septal defect |
DECIPHER:39 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Thickened glomerular basement membrane, Proteinuria, Pericarditis, Stage 5 chronic ... |
OMIM:619487 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Intestinal bleeding, Reduced circulating transferrin concentrati... |
ORPHA:90363 |
Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Leukocytosis, Hypovolemia, Arrhythmi... |
ORPHA:31824 |
Kimura Disease |
|
Eosinophilia |
ORPHA:482 |
Glycogen Storage Disease 0, Muscle |
|
Stroke, Left ventricular hypertrophy, Decreased muscle glycogen content, Left atrial enlargement,... |
OMIM:611556 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level |
OMIM:619773 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Ovarian cyst, Abnormal response to ACTH stimulation test, I... |
ORPHA:90793 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... |
OMIM:614699 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hypokalemia, Decreased glomerular filtration rate, Increased urinary potassium, Polyuria, Hyperna... |
OMIM:613090 |
Microscopic Polyangiitis |
|
Pancreatitis, Peritonitis, Arrhythmia, Hematuria, Vasculitis, Oliguria, Renal insufficiency, Glom... |
ORPHA:727 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Increa... |
OMIM:601678 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Spherophakia, Shallow anterior chamber, Ocular hypertension, Spontaneous conjunctival filtering b... |
OMIM:601552 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Increa... |
OMIM:241200 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Hypomagnesemia, Hypokalemia, Polyuria, Hypocalciuria, Renal potassium wasting, Increased circulat... |
OMIM:612780 |
Preeclampsia/Eclampsia 1 |
|
Hypertension, Thrombocytopenia, Proteinuria, Elevated hepatic transaminase |
OMIM:189800 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Iris hypopigmentation, Iris coloboma, Anterior synechiae of the anterior chamber, Microcornea |
ORPHA:3214 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec... |
OMIM:619281 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Decreased serum complement C3, ... |
OMIM:612925 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Decreased circulating IgA level, Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegal... |
OMIM:613327 |
C3 Glomerulopathy |
|
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Decreased serum complemen... |
ORPHA:329918 |
Primary Hyperoxaluria Type 1 |
|
Nephrolithiasis, Dysuria, Stroke, Decreased glomerular filtration rate, Recurrent urinary tract i... |
ORPHA:93598 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Elevated circulating C-reactive protein concentration, Absent isohemagglutinin level, Hepatomegal... |
OMIM:615559 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Adrenal insufficiency, Hyperaldosteronism, Adrenocorticotropic hormone excess, Renal salt wasting |
OMIM:613743 |
Snakebite Envenomation |
|
Muscle fiber necrosis, Stroke, Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotensi... |
ORPHA:449285 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Decreased serum complement C3, ... |
OMIM:612922 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... |
OMIM:605258 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Abnormal magnesium concentration, Increased circulating renin level, Proximal tubulo... |
OMIM:241150 |
Familial Dilated Cardiomyopathy |
|
Left bundle branch block, Left ventricular hypertrophy, Palpitations, Mitral regurgitation, Eleva... |
ORPHA:217607 |
Attrv122I Amyloidosis |
|
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Stroke, Tendon rupture, Atrial arrhy... |
ORPHA:85451 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Sudden cardiac death, Elevated circulating aspartate aminotransferase concentration... |
OMIM:614921 |
Immunodeficiency 70 |
|
Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Decreased ci... |
OMIM:618969 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... |
ORPHA:324575 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Flexion contracture, Left ventricular hypertrophy, Renal dysplasia, Abnormal renal corticomedulla... |
OMIM:616733 |
Uveal Melanoma |
|
Inferior lens subluxation, Iris melanoma, Zonular cataract, Ciliary body melanoma, Ocular hyperte... |
ORPHA:39044 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperprostaglandinuria, Hypomagnesemia, Hypocalcemia, Abnormal renal tubular resorption, Hepatic ... |
ORPHA:73224 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Precocious puberty, Hypokalemia, Decreased circulating cortis... |
ORPHA:90795 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Hypersplenism, Bone marrow hypocellula... |
ORPHA:3261 |
His Bundle Tachycardia |
|
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia |
ORPHA:3283 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Decreased liver function, Increased CSF lactate, Left ventricular hypertrophy, Elevated hepatic t... |
OMIM:616974 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Decreased serum complement C3, Complement deficiency, Decreased serum complem... |
ORPHA:567544 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Decreased glomerular filtration rate, Hepatic cysts, Renal insufficiency, Hypertension, Stage 5 c... |
OMIM:618061 |
Diffuse Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Flexion contracture, Xerostomia, Oliguria, Renal insufficiency, Hyper... |
ORPHA:220393 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Thigh hypertrophy, Left ventricular hypertrophy, Calf muscle hypertrophy, Elevated circulating cr... |
ORPHA:86812 |
Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Myofiber disarray, Cerebral hemorrhage, Tricuspid regurgitation, M... |
OMIM:619897 |
Bilateral Acute Depigmentation Of The Iris |
|
Hypoplastic iris stroma, Iris pigment dispersion, Abnormal anterior chamber morphology, Pigment d... |
ORPHA:69736 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hyperlipidemia, Sudden cardiac death, Hypertriglyceridemia, Myocardial infarction, Hypercholester... |
OMIM:610947 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... |
OMIM:137950 |
Myofibrillar Myopathy 10 |
|
Flexion contracture of finger, EMG: myopathic abnormalities, Left ventricular hypertrophy, Elevat... |
OMIM:619040 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphopenia, Absent specific antibody response, Autoimmune thrombocytopenia, Decreased proportion... |
OMIM:619846 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Heme Oxygenase 1 Deficiency |
|
Increased circulating ferritin concentration, Increased circulating interleukin 6 concentration, ... |
OMIM:614034 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neu... |
OMIM:615285 |
Cardiogenic Shock |
|
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... |
ORPHA:97292 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Decreased serum complement factor H, Microangiopathic hemolytic anemia, Hyperlipidemia, Decreased... |
OMIM:235400 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Ventriculomegaly, Neutropenia |
ORPHA:2643 |
Simple Cryoglobulinemia |
|
Stroke, Complement deficiency, Monoclonal elevation of circulating IgA, Myocardial infarction, Pr... |
ORPHA:91139 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hydrocephalus, Heparan sulfate excretion in urine, Enlarged kidney, Thrombocytopenia, Proteinuria... |
ORPHA:505248 |
Ectopic Aldosterone-Producing Tumor |
|
Hypokalemia, Ovarian neoplasm, Renal cortical adenoma, Decreased circulating renin level, Epistax... |
ORPHA:231632 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Glycogen accumulation in muscle fiber lysosomes, Recurrent myoglobinuria, Chronic kid... |
ORPHA:368 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Gastrointestinal hemorrhage, Ja... |
ORPHA:731 |
Orthostatic Hypotension 2 |
|
Orthostatic hypotension, Anemia, Decreased glomerular filtration rate |
OMIM:618182 |
Fixed Subaortic Stenosis |
|
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... |
ORPHA:3092 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:607487 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Premature coronary artery atherosclerosis, Increased LDL cholesterol c... |
OMIM:615703 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Polyuria, Hypercalciuria, Increased circulating renin level, Hyponatremia, Medullary... |
OMIM:300971 |
Adenine Phosphoribosyltransferase Deficiency |
|
Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Elevated c... |
OMIM:614723 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Cardiomyopathy, Dilated, 1U |
|
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... |
OMIM:613694 |
Atrial Standstill |
|
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... |
ORPHA:1344 |
Phacoanaphylactic Uveitis |
|
Keratitis, Pseudophakia, Hypopyon, Panuveitis, Abnormal pupil morphology, Ocular hypertension, Co... |
ORPHA:209959 |
Idiopathic Panuveitis |
|
Ocular hypertension, Cataract, Choroidal neovascularization, Posterior synechiae of the anterior ... |
ORPHA:280921 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Proteinuria, Renal insufficiency, Hyper... |
OMIM:601894 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Abnor... |
ORPHA:331206 |
Distal Monosomy 6P |
|
Corneal opacity, Abnormal anterior chamber morphology, Ectopia pupillae, Posterior embryotoxon, H... |
ORPHA:96125 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Hypomagnesemia, Decreased circulating IgG level, Hypocalcemia, H... |
ORPHA:90362 |
Immunodeficiency 72 With Autoinflammation |
|
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin... |
OMIM:618982 |
Liddle Syndrome 1 |
|
Decreased circulating aldosterone level, Hypokalemia, Renal insufficiency, Decreased circulating ... |
OMIM:177200 |
Pituitary Adenoma 1, Multiple Types |
|
Pituitary growth hormone cell adenoma, Pituitary adenoma, Elevated circulating growth hormone con... |
OMIM:102200 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Decreased circulating renin level, Decreased circulating aldosterone level, Hypertension |
OMIM:605115 |
Crimean-Congo Hemorrhagic Fever |
|
Melena, Hepatomegaly, Subdural hemorrhage, Hemoperitoneum, Neutrophilia, Hemothorax, Hepatic fail... |
ORPHA:99827 |
Aa Amyloidosis |
|
Adrenal insufficiency, Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of t... |
ORPHA:85445 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Hypertension, Nephropathy, Proteinuria |
ORPHA:2820 |
Vici Syndrome |
|
Decreased circulating IgG level, Left ventricular hypertrophy, Penile hypospadias, Decreased T ce... |
OMIM:242840 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Exocrine pancreatic insufficiency, Elevated circulating alkaline phosphatase concentration, Sever... |
OMIM:620005 |
Bartter Syndrome Type 4 |
|
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Impaired renal concentrating abilit... |
ORPHA:89938 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Abn... |
ORPHA:57777 |
Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Jaundice, Abno... |
ORPHA:91547 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Increased urine alpha-ketoglutarate concentration, Ketonuria, 3-hydroxydicarboxylic aciduria, Hep... |
OMIM:619355 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... |
OMIM:601859 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Eosinophilia, Complete or near-complete absence of specific anti... |
OMIM:610163 |
Congenital Pulmonary Veins Atresia Or Stenosis |
|
Abnormal cardiac septum morphology, Hypertension |
ORPHA:3188 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Decreased circulating IgG level, Elevated circulating C-reactive protein concentrati... |
OMIM:308240 |
Yellow Fever |
|
Supraventricular arrhythmia, Neutrophilia, Pancreatic hyperplasia, Elevated circulating aspartate... |
ORPHA:99829 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormality of interleukin secretion, Increased circulating interleukin 6 concentration, Hyperbil... |
ORPHA:542323 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Iris coloboma, Uveitis, Cata... |
OMIM:221900 |
Exercise-Induced Malignant Hyperthermia |
|
Decreased liver function, Hypocalcemia, Abnormal pulse pressure, Abnormal T-wave, ST segment depr... |
ORPHA:466650 |
Acute Peripheral Arterial Occlusion |
|
Supraventricular tachycardia, Stroke, Leukocytosis, Absent ankle pulse, Myocardial infarction, Li... |
ORPHA:90064 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... |
OMIM:614700 |
Glycogen Storage Disease Ic |
|
Chronic pancreatitis, Hyperlipidemia, Hepatomegaly, Hepatoblastoma, Decreased glomerular filtrati... |
OMIM:232240 |
8P23.1 Duplication Syndrome |
|
Adrenal insufficiency, Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Hydrone... |
ORPHA:251076 |
Heterochromia Iridis |
|
Asymmetry of iris pigmentation, Heterochromia iridis |
OMIM:142500 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating IgA level, Hepatomegaly, Lymphopenia, Diffuse mesangial sclerosis, Aplasia ... |
OMIM:102700 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Sudden card... |
OMIM:608758 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Nephritis, Decreased glomerular filtration rate, Nephropathy, Renal insuff... |
OMIM:162000 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hydrocephalus, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Impaired T ... |
OMIM:614576 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... |
OMIM:608751 |
Schimke Immuno-Osseous Dysplasia |
|
Pancreatitis, Stroke, Impaired T cell function, Abnormal proportion of naive CD4 T cells, Protein... |
ORPHA:1830 |
Variegate Porphyria |
|
Porphyrinuria, Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic acid, Tac... |
OMIM:176200 |
Porphyria Variegata |
|
Chronic kidney disease, Inappropriate antidiuretic hormone secretion, Abnormal enzyme/coenzyme ac... |
ORPHA:79473 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Premature ventricular contraction, Hyperammonemia, Elevated circulating creatine ki... |
OMIM:212138 |
Birdshot Chorioretinopathy |
|
Ocular hypertension, Abnormal chorioretinal morphology, Abnormal choroid morphology, Cataract, Ch... |
ORPHA:179 |
Cardiomyopathy, Dilated, 1Kk |
|
Left ventricular hypertrophy, Mitral regurgitation, Increased left ventricular end-diastolic volu... |
OMIM:615248 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... |
ORPHA:94088 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria, Hypertension, A... |
OMIM:603278 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, Synco... |
OMIM:613838 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Steatorrhea, Hepatic failure, Elevated circulating aspartate aminotransferase conce... |
OMIM:278000 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Telangiectases of the cheeks, Decreased circulating total IgM |
OMIM:615139 |
Anterior Segment Dysgenesis 8 |
|
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... |
OMIM:617319 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602087 |
Potocki-Shaffer Syndrome |
|
Micropenis, Nephroblastoma, Hypothyroidism, Delayed puberty, Hypertension, Anemia |
ORPHA:52022 |
Immunodeficiency 47 |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Elevated circulating aspartate aminotransferase ... |
OMIM:300972 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... |
OMIM:612098 |
Immunodeficiency 64 |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgA level, Decre... |
OMIM:618534 |
Atrial Fibrillation, Familial, 6 |
|
Left ventricular hypertrophy, Atrial fibrillation, Elevated left ventricular end-diastolic diamet... |
OMIM:612201 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... |
OMIM:312863 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Central adrenal insufficiency, ... |
OMIM:615577 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating f... |
ORPHA:263455 |
Megalocornea |
|
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... |
OMIM:309300 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Atrial fib... |
OMIM:614954 |
Cardiomyopathy, Dilated, 1V |
|
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... |
OMIM:613697 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Hyper... |
OMIM:161900 |
Paget Disease Of Bone 6 |
|
Coronary artery atherosclerosis, Left ventricular hypertrophy, Nephrocalcinosis, Elevated circula... |
OMIM:616833 |
Paragangliomas 6 |
|
Hypertension, Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Hyperalaninemia, Left ventricular hypertrophy, Bradycardia |
OMIM:614654 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... |
OMIM:618394 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Decreased circulating aldosterone level, Hypokalemia, Hyperte... |
OMIM:202010 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Hematuria, Elevated circulating... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Hematuria, Elevated circulating... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Hematuria, Elevated circulating... |
OMIM:612926 |
Schimke Immunoosseous Dysplasia |
|
Stroke, Proteinuria, Pancytopenia, Transient ischemic attack, Abnormal T cell morphology, Bilater... |
OMIM:242900 |
Mogs-Cdg |
|
Hydrocele testis, Decreased circulating IgA level, Atrial septal defect, Decreased circulating Ig... |
ORPHA:79330 |
Overlap Myositis |
|
Abnormal circulating lipid concentration, Raynaud phenomenon, Abnormality of the kidney, Leukopen... |
ORPHA:206572 |
Leprechaunism |
|
Hyperinsulinemia, Hypokalemia, Hepatomegaly, Increased circulating renin level, Enlarged kidney, ... |
ORPHA:508 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syn... |
OMIM:610476 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Decreased circulating aldosterone level, Hypokalemia, Hyperten... |
OMIM:218030 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Hydrocephalus, Thrombocytopenia |
OMIM:166990 |
Immunodeficiency 15B |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:615592 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Calf muscle hypertrophy, Insulin-resistant diabetes mellitus at puberty, Abnorm... |
ORPHA:280356 |
Oculoauricular Syndrome |
|
Microphakia, Ocular hypertension, Chorioretinal atrophy, Posterior embryotoxon, Microcornea, Iris... |
OMIM:612109 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Elevated systolic blood pressure, Decreased serum creatinine, Hypernatriuria, Hyponatremia, Decre... |
OMIM:300539 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... |
OMIM:619510 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Tachycardia, Pancreatic islet-cell hyperplasia, ... |
ORPHA:276608 |
Pauci-Immune Glomerulonephritis |
|
Pancreatitis, Nephrotic range proteinuria, Decreased glomerular filtration rate, Macroscopic hema... |
ORPHA:93126 |
Fabry Disease |
|
Angina pectoris, Telangiectasia of the skin, Hematuria, Abnormal myocardium morphology, Proteinur... |
ORPHA:324 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
OMIM:251190 |
Congenital Microcoria |
|
Hypoplastic iris stroma, Nuclear cataract, Ocular hypertension, Corneal stromal edema, Megalocorn... |
ORPHA:566 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Abnormal cardiac septum morphology, Increased endomysial connective tissue, Scapular winging, Inc... |
ORPHA:437572 |
Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Increased circulating brain natriuretic peptide concentration, Left... |
OMIM:601494 |
Ataxia-Telangiectasia |
|
Telangiectasia of the skin, Type II diabetes mellitus, Mucosal telangiectasiae, Lymphopenia, Elev... |
ORPHA:100 |
Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Anemia, Hypospadias, Left ventricular hypertrophy, Camptodactyly, Renal insufficiency, Hydronephr... |
OMIM:611209 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Hypokalemia, Pancreatitis, Leukocytosis, Hemoglobinuria, Perit... |
ORPHA:90038 |
Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Stroke, Tricuspid regurgitation, Left ventricular hypertrophy, Atr... |
OMIM:614022 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Myofiber disarray, Left ventricular hypertrophy, Mitral valve prolapse, Atrial fibrillation, Hype... |
OMIM:614676 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Increased CSF lactate, Left ventricular hypertrophy, EMG: myopathic abnormalities, Elevated circu... |
OMIM:615418 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:300861 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Decreased circulating IgA level, Precocious puberty, Atrial septal defect, Co... |
ORPHA:369837 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate |
OMIM:242530 |
Coronary Arterial Fistula |
|
Angina pectoris, Systolic heart murmur, Coronary artery aneurysm, Cardiomegaly, Abnormal heart mo... |
ORPHA:2041 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602086 |
Lessel-Kubisch Syndrome |
|
Hypertension, Renal hypoplasia, Renal insufficiency, Hypogonadism |
OMIM:618681 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Eosinophilia |
OMIM:618282 |
Nail-Patella-Like Renal Disease |
|
Renal insufficiency, Proteinuria, Glomerulopathy, Hypertension, Microscopic hematuria |
ORPHA:2613 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Gastrointestinal hemorrhage, Lymphadenopathy, Nephrotic syndrome, Splenomegaly, Fol... |
OMIM:603909 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... |
OMIM:613251 |
Sick Sinus Syndrome 2 |
|
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... |
OMIM:163800 |
Tularemia |
|
Increased circulating antibody level, Leukocytosis, Abnormal nasopharyngeal adenoid morphology, A... |
ORPHA:3392 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Cerebral vasculitis, Decreased circulating total IgM, Eosinophilia, Subarachnoid hemorrhage, Incr... |
OMIM:243700 |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Increased urine alpha-ketoglutarate concentration, Left ventricular hypertrophy, Increased CSF la... |
OMIM:614458 |
Roifman Syndrome |
|
Ventricular septal defect, Eosinophilia, Noncompaction cardiomyopathy, Splenomegaly |
OMIM:616651 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Polycystic ovaries, Diabetes mellitus, Coronary art... |
ORPHA:79084 |
Hereditary Coproporphyria |
|
Dark urine, Proximal muscle weakness in lower limbs, Increased urinary porphobilinogen, Nephropat... |
ORPHA:79273 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Par... |
OMIM:618108 |
Isolated Succinate-Coq Reductase Deficiency |
|
Abnormal left ventricular function, Left ventricular hypertrophy, Skeletal myopathy, Distal amyot... |
ORPHA:3208 |
Pituitary Gigantism |
|
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... |
ORPHA:99725 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Chronic kidney disease, Nephrotic syndrome, Decreased glomerular filtration rate, Lateral ventric... |
ORPHA:488627 |
Pparg-Related Familial Partial Lipodystrophy |
|
Pancreatitis, Hepatomegaly, Hyperuricemia, Polycystic ovaries, Splenomegaly, Cirrhosis, Abnormali... |
ORPHA:79083 |
Neuroleptic Malignant Syndrome |
|
Elevated circulating alkaline phosphatase concentration, Proteinuria, Hyperuricemia, Hyperhidrosi... |
ORPHA:94093 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Hypocalcemia, Tricuspid regurgitation, Left ventricular hypertrophy, Mitral r... |
ORPHA:746 |
Cardiac Diverticulum |
|
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... |
ORPHA:1686 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Left ventricular hypertrophy, Muscular dystrophy, Elevated circulating creatine ki... |
OMIM:613153 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Nephrolithiasis, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pitu... |
ORPHA:189439 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
Tangier Disease |
|
Facial diplegia, Hepatomegaly, Splenomegaly, Left ventricular hypertrophy, Decreased HDL choleste... |
OMIM:205400 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Facial diplegia, Quadriceps muscle weakness, Reduced left ventricular ejection fraction, Limb mus... |
ORPHA:254892 |
Takayasu Arteritis |
|
Hypertrophic cardiomyopathy, Anemia, Abnormal aortic valve morphology, Vasculitis, Cerebral ische... |
ORPHA:3287 |
Adrenal Hypoplasia, Cytomegalic Type |
|
Primary adrenal insufficiency, Congenital adrenal hypoplasia |
OMIM:202155 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hyperlipidemia, Abnormal circulating lipid concentration, Muscular dystrophy, Elevated circulatin... |
OMIM:615980 |
Agammaglobulinemia, X-Linked |
|
Decreased circulating IgA level, Prostatitis, Decreased circulating IgG level, Complete or near-c... |
OMIM:300755 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... |
ORPHA:169154 |
Paragangliomas 3 |
|
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, E... |
OMIM:605373 |
Iga Nephropathy, Susceptibility To, 2 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertension, Stage 5 chroni... |
OMIM:613944 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Decreased circulating IgA level, Defective T cell proliferatio... |
OMIM:619774 |
Fibronectin Glomerulopathy |
|
Nephrotic syndrome, Cerebral hemorrhage, Abnormal glomerular mesangium morphology, Renal insuffic... |
ORPHA:84090 |
Eosinophilic Fasciitis |
|
Eosinophilia, Abnormal eosinophil morphology |
ORPHA:3165 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Atrial fibrillation, Left ventricular hypertrophy, Paroxysmal atrial fibrillation, Hypertrophic c... |
OMIM:613874 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated circulating C-reactive protein concentration, Stroke, Hepatomegaly, Type I diabetes mell... |
OMIM:615688 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Lymphopenia, B lymphocytopenia, T lymphocytopenia, Abnormality of humora... |
ORPHA:277 |
Liddle Syndrome 2 |
|
Decreased circulating renin level, Decreased circulating aldosterone level, Hypokalemia, Hyperten... |
OMIM:618114 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Renal salt wasting |
OMIM:201910 |
Omenn Syndrome |
|
Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia... |
OMIM:603554 |
Paragangliomas 1 |
|
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, E... |
OMIM:168000 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
Stroke, Lacunar stroke, Hypertension, Transient ischemic attack, Dilation of Virchow-Robin spaces |
OMIM:616779 |
Alkaptonuria |
|
Nephrolithiasis, Aortic valve calcification, Decreased glomerular filtration rate, Mitral valve c... |
OMIM:203500 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Nephrotic syndrome, Decreased specific pneumococcal antibody level, Podocyte foot process effacem... |
OMIM:617006 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Lymphopenia, Sple... |
OMIM:616100 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Decreased specifi... |
OMIM:613496 |
Focal Segmental Glomerulosclerosis 2 |
|
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hype... |
OMIM:603965 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Cerebral hemorrhage, Decreased circulating total IgM, Hepatosple... |
OMIM:301081 |
Iga Nephropathy, Susceptibility To, 3 |
|
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertensio... |
OMIM:616818 |
Congenital Fibrinogen Deficiency |
|
Micropenis, Right ventricular hypertrophy, Left ventricular hypertrophy, Hemorrhagic ovarian cyst... |
ORPHA:335 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Oligosacchariduria, Macroglossia, Left ventricular outflow tract obstruction, Abnor... |
ORPHA:308552 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Pheochromocytoma, Tachycardia, Episodic hyp... |
OMIM:171420 |
Alstrom Syndrome |
|
Hyperinsulinemia, Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogonadism, Hyperur... |
OMIM:203800 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy |
OMIM:107970 |
Anterior Segment Dysgenesis 3 |
|
Hypoplastic iris stroma, Abnormal iris vasculature, Ectopia pupillae, Axenfeld anomaly, Posterior... |
OMIM:601631 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Decreased liver function, Arrhythmia, Thrombocytopenia, Ventricular septal defect, Patent ductus ... |
OMIM:617021 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Decreased lymphocyte proliferation in response to anti-CD3, Increased circulating ferritin concen... |
OMIM:619313 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arrhythmia, Renal insufficiency, Hyperuricemia, Abnormal aortic morphology, Hypertension, Cardiom... |
ORPHA:3222 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... |
OMIM:619752 |
African Iron Overload |
|
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... |
ORPHA:139507 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... |
OMIM:619374 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Increased circulating antibody level, Renal lymphocytic tubulitis, Vitreous hemorrhage, Elevated ... |
ORPHA:91500 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Chronic kidney disease, Hypomagnesemia, Type 2 muscle fiber atrophy, Polyuria, Leukopenia, Hypere... |
OMIM:613845 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia |
OMIM:253600 |
Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... |
ORPHA:3384 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test, Hypothyroidism |
OMIM:262700 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Flexion contracture, Micropenis, Tachycardia, Ventricular septal defect, Pa... |
OMIM:613870 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Myocardial infarction, Hypertension, Hypercholesterolemia |
OMIM:608320 |
Cinca Syndrome |
|
Eosinophilia, Anemia, Leukocytosis, Hepatosplenomegaly |
OMIM:607115 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Hypoparathyroidism, Hypocalcemia, Hypoplastic left heart, Pulmonic... |
ORPHA:3426 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Eosinophilia |
OMIM:618092 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Cholestasis, Proteinuria,... |
OMIM:105200 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia |
OMIM:601457 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated circulating acylcarnitine concentration, Torsade de pointes, Ketonuria, Hyperammonemia, ... |
OMIM:616878 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephro... |
ORPHA:100024 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Atrial septal defect, Hepatomegaly, Hypoproteinemia, Hyperammonemia, Jaundice, Elev... |
ORPHA:26793 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia of the iris, Posterior ... |
OMIM:602482 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, EMG: myopathic abnormalities, Palpitations, Arrhythmia, ST segment elevati... |
ORPHA:263297 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Abnormality of the hepatic vasculature, Elevated circulating alkaline phosphatase concentration, ... |
ORPHA:247691 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... |
ORPHA:221139 |
Selective Igm Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Thyroid carcinoma, Raynaud phenomenon, Decr... |
ORPHA:331235 |
Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Cerebral hemorrhage, Leukocytosis, Lymphadenitis, C... |
OMIM:618886 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eosinophilia, Cutaneous abscess |
OMIM:147060 |
Roifman Syndrome |
|
Eosinophilia, Noncompaction cardiomyopathy, Hepatosplenomegaly |
ORPHA:353298 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... |
OMIM:604772 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly,... |
OMIM:613101 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Trapezius muscle aplasia, Hydrocephalus |
OMIM:600257 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Adrenal insufficiency, Central adrenal insufficiency, Flexion contracture, Delayed puberty, Hypog... |
OMIM:612079 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni... |
ORPHA:486 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Aneurysm Of Sinus Of Valsalva |
|
Bacterial endocarditis, Stroke, Heart murmur, Oliguria, Dilatation of the sinus of Valsalva, Aort... |
ORPHA:1054 |
Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Calf muscle ... |
ORPHA:79086 |
Immunodeficiency 36 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Splenomegaly, B ly... |
OMIM:616005 |
Distal Renal Tubular Acidosis |
|
Nephrolithiasis, Hypokalemia, Aminoaciduria, Decreased glomerular filtration rate, Low-molecular-... |
ORPHA:18 |
Thymic Neuroendocrine Tumor |
|
Prominent veins on trunk, Pituitary null cell adenoma, Pituitary adenoma, Increased circulating c... |
ORPHA:97289 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Eosinophilia |
OMIM:618523 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Hypospadias, Elevated h... |
OMIM:301045 |
Nephrotic Syndrome, Type 14 |
|
Adrenal insufficiency, Nephrotic syndrome, Lymphopenia, Diffuse mesangial sclerosis, Micropenis, ... |
OMIM:617575 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level |
ORPHA:2572 |
Infantile Sialic Acid Storage Disease |
|
Hydrocephalus, Nephrotic syndrome, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Conjugated... |
OMIM:269920 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Hydrocephalus, Aortic valve stenosis, Atrial septal defect, Hypopl... |
OMIM:220210 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating androgen concentration, Decreased response to growth hormone stimulation te... |
ORPHA:293978 |
Moyamoya Disease With Early-Onset Achalasia |
|
Stroke, Raynaud phenomenon, Abnormal platelet aggregation, Moyamoya phenomenon, Abnormal cerebral... |
ORPHA:401945 |
1Q21.1 Microduplication Syndrome |
|
Hydrocephalus, Hypospadias, Tetralogy of Fallot, Arthrogryposis multiplex congenita, Cryptorchidism |
ORPHA:250994 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen... |
OMIM:600903 |
Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal calcium-phosphate regulating hormone level, Hypoammonemia, Hematuria, Proteinuria, Nephr... |
ORPHA:534 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Macrovesicular ... |
OMIM:600649 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Hyperthyroidism, Palpitations, Tachycardia, Rhabdomyolysis, Goiter |
OMIM:188580 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Elevated circulating C-reactive protein concentration, Elevated circulating amyloid A, Mitral reg... |
OMIM:619750 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Abnormal renal phys... |
ORPHA:540 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Elevated alph... |
OMIM:613095 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplas... |
OMIM:300635 |
Kearns-Sayre Syndrome |
|
Hypoparathyroidism, Renal tubular acidosis, Arrhythmia, Renal Fanconi syndrome, Primary adrenal i... |
OMIM:530000 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Elevated circulating creatine kinase concentration, Myoglobinuria, Tachycardia, Hypotension, Rhab... |
OMIM:145600 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyperactive renin-angiotensin system, Hypokalemia, Hyponatremia, Hyperaldosteronism, Hypochloremia |
OMIM:214700 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... |
ORPHA:231222 |
Incessant Infant Ventricular Tachycardia |
|
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
ORPHA:45453 |
Lambert Syndrome |
|
Intrahepatic biliary atresia, Hypospadias, Cholestasis, Ventricular septal defect, Decreased circ... |
ORPHA:1296 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Supraventricular tachycardia, Abnormal left ventricular function, Muscular dystrophy, Abnormal ly... |
ORPHA:300751 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardiomyopathy |
OMIM:613876 |
Bronchial Neuroendocrine Tumor |
|
Increased serum serotonin, Elevated circulating growth hormone concentration, Abnormal pulmonary ... |
ORPHA:97287 |
Marburg Hemorrhagic Fever |
|
Pancreatitis, Elevated circulating creatinine concentration, Reticulocytosis, Pericarditis, Jaund... |
ORPHA:99826 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Proteinuria, Hypertension, Microscopic hematuria, Stage 5 chr... |
OMIM:613237 |
Lipodystrophy, Familial Partial, Type 4 |
|