Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia |
OMIM:267900 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Defective T cell proliferation, Reduced antigen-specific T cell ... |
OMIM:615897 |
Immunodeficiency, Common Variable, 5 |
|
Antinuclear antibody positivity, Chronic decreased circulating total IgG |
OMIM:613495 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... |
OMIM:616452 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Secretory Component Deficiency |
|
Chronic intestinal candidiasis, Secretory IgA deficiency |
OMIM:269650 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus, Autoimmunity |
OMIM:612227 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level |
OMIM:242880 |
Mahvash Disease |
|
Recurrent pancreatitis, Increased glucagon level, Type II diabetes mellitus, Pancreatic alpha-cel... |
OMIM:619290 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Decreased circulating IgG level, Decreased circulating total IgM, Increased circulating interleuk... |
OMIM:618944 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency |
OMIM:609812 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased circulating total IgM, Reduced isohemagglutinin level, Dec... |
OMIM:618459 |
Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating total IgM, Reduced isohemagglutinin level, Chronic decreased circulating to... |
OMIM:613493 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... |
OMIM:619707 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM |
OMIM:610798 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM |
OMIM:606445 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level |
OMIM:616636 |
Lipase Deficiency, Combined |
|
Pancreatitis, Type II diabetes mellitus |
OMIM:246650 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Arthralgia/arthritis, Autoimmunity, Reactive hypoglycemia, Insulin-resis... |
ORPHA:411593 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... |
OMIM:613502 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Telangiectases of the cheeks |
OMIM:615139 |
Immunodeficiency 61 |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ... |
OMIM:300310 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgA level |
OMIM:613500 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... |
OMIM:617765 |
Immunodeficiency 86 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst |
OMIM:619549 |
Autoimmune Disease |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:109100 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:618987 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Au... |
ORPHA:99886 |
Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:859 |
Immunoglobulin A Deficiency 2 |
|
Autoimmunity, Decreased circulating IgA level |
OMIM:609529 |
Severe Combined Immunodeficiency, X-Linked |
|
Reduced natural killer cell activity, Agammaglobulinemia, Decreased circulating total IgM, Decrea... |
OMIM:300400 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Anti-glutamic acid decarboxylase antibody po... |
OMIM:610582 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... |
OMIM:605258 |
Osteoarthritis Susceptibility 3 |
|
Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c... |
OMIM:607850 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level |
OMIM:242870 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Anti-g... |
OMIM:616329 |
Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM |
OMIM:236000 |
Hashimoto Thyroiditis |
|
Autoimmune antibody positivity, Hashimoto thyroiditis |
OMIM:140300 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Pemphigus Vulgaris, Familial |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:169610 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... |
OMIM:612692 |
Systemic Lupus Erythematosus 16 |
|
Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibo... |
OMIM:614420 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea... |
ORPHA:79084 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... |
OMIM:608106 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, In... |
OMIM:601859 |
Immunoglobulin A Deficiency 1 |
|
Autoimmunity, Decreased circulating IgA level |
OMIM:137100 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Autoimmunity |
OMIM:222100 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus |
OMIM:613791 |
Chondrocalcinosis 2 |
|
Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis |
OMIM:118600 |
Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
Immunodeficiency 70 |
|
Decreased circulating total IgA, Decreased circulating total IgM, Decreased circulating total IgG... |
OMIM:618969 |
Congenital Pancreatic Cyst |
|
Jaundice, Vomiting, Pancreatitis |
ORPHA:313906 |
Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus |
OMIM:613783 |
Sneddon Syndrome |
|
Antiphospholipid antibody positivity, Cerebral hemorrhage, Decreased circulating total IgM, Hyper... |
OMIM:182410 |
Glycoprotein Storage Disease |
|
Gout |
OMIM:232900 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level |
OMIM:235900 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Neutropenia in presence of anti-neutropil antibodies, Decreased circula... |
OMIM:607594 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level |
ORPHA:2572 |
Immunodeficiency 50 |
|
Decreased circulating antibody level |
OMIM:300988 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Autoimmunity, Abnormal immunoglobulin level, Increased circulating IgE level, Decreased circulati... |
ORPHA:98813 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Immunodeficiency 105 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619924 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE, Partial absence o... |
OMIM:619824 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM |
OMIM:153600 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia |
OMIM:618858 |
Osteoarthritis Susceptibility 2 |
|
Osteoarthritis, Heberden's node |
OMIM:140600 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas... |
OMIM:614699 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:611926 |
Chondrocalcinosis 1 |
|
Osteoarthritis, Chondrocalcinosis |
OMIM:600668 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, Reduced natural killer cell activity, Decreased circulating IgG ... |
OMIM:619281 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... |
OMIM:301082 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgE, Peri... |
OMIM:618394 |
Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Decreased circulating total IgM, Increased circulating IgE level |
OMIM:617638 |
Immunodeficiency 11A |
|
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... |
OMIM:615206 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level |
ORPHA:2643 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis, Autoimmunity |
OMIM:216950 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia |
OMIM:200900 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Agammaglobulinemia, Decreased circulatin... |
OMIM:619705 |
Panniculitis-Induced Localized Lipodystrophy |
|
Antinuclear antibody positivity, Vasculitis in the skin, Abnormal immunoglobulin level |
ORPHA:90159 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Insulin-resistant diabetes mellitus, Acute pancreatitis, Hyperglycemia |
OMIM:608600 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
OMIM:619220 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Increased circulating IgA level, Increased circulating IgE level, In... |
OMIM:610163 |
Immunodeficiency 96 |
|
Conjunctival telangiectasia, Decreased circulating total IgM, Defective T cell proliferation, Dec... |
OMIM:619774 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:614069 |
C1Q Deficiency 1 |
|
Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus |
OMIM:613652 |
Immunodeficiency 64 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Increased circulating IgA level, Autoimmune thrombocytopenia, Antinu... |
OMIM:618534 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... |
OMIM:608189 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Diarrhea, Vomiting, Pancreatitis, Hypoglycemia |
OMIM:620137 |
Immunodeficiency, Common Variable, 10 |
|
Anti-thyroid peroxidase antibody positivity, Decreased circulating total IgM, Anti-thyroglobulin ... |
OMIM:615577 |
Mody |
|
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Autoimmune antibody po... |
ORPHA:552 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae |
ORPHA:50809 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus |
OMIM:606176 |
Immunodeficiency 22 |
|
Pericarditis, Autoimmunity, Capillary leak, Decreased circulating total IgM, Decreased circulatin... |
OMIM:615758 |
Osteoarthritis Susceptibility 1 |
|
Hip osteoarthritis |
OMIM:165720 |
Tn Polyagglutination Syndrome |
|
Autoimmunity |
OMIM:300622 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia |
ORPHA:329249 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody level, D... |
OMIM:616100 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Autoimmunity, Decreased specific pneumococcal antibody level |
OMIM:617006 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
Neuronal Intestinal Pseudoobstruction |
|
Patent ductus arteriosus, Decreased circulating antibody level |
ORPHA:99811 |
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia |
ORPHA:209004 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... |
OMIM:262190 |
Immunodeficiency 15B |
|
Agammaglobulinemia, Decreased lymphocyte proliferation in response to mitogen, Decreased circulat... |
OMIM:615592 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:616941 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Hyperglycemia |
OMIM:618856 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis |
OMIM:609655 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:620210 |
Lymphoproliferative Syndrome 3 |
|
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... |
OMIM:618261 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Autoimmune hemolytic anemia, Autoimmunity, Decreased circulating antibody level, Decreased circul... |
ORPHA:331206 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level |
OMIM:162700 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Autoimmunity, Anti-thyroid peroxidase antibody positivity, Increased circulating IgE level, Lack ... |
ORPHA:277 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level |
OMIM:233650 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Panhypogammaglobulinemia |
OMIM:615214 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
Developmental Dysplasia Of The Hip 2 |
|
Hip osteoarthritis, Arthritis |
OMIM:615612 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, R... |
OMIM:603909 |
Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os... |
OMIM:105835 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Decreased circulating antibody level |
OMIM:193670 |
Immunodeficiency, Common Variable, 2 |
|
Autoimmunity, Impaired T cell function, Decreased circulating IgG level, Partial absence of speci... |
OMIM:240500 |
Slipped Femoral Capital Epiphyses |
|
Hip osteoarthritis |
OMIM:182260 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Increased circulating IgM level, Decreased circulating IgG2 level, Decreased specific pneumococca... |
OMIM:615513 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr... |
OMIM:619510 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Subarachnoid hemorrhage, Increased circulating IgE level, Increased circulat... |
OMIM:243700 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Increased circulating antibody level |
OMIM:247800 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia, Hepatic steatosis |
OMIM:261650 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Glycosuria |
OMIM:618857 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, Hepatitis, ... |
ORPHA:444463 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Autoimmune thrombocytopenia, Decreased circulating antibody level |
OMIM:619846 |
Chylous Ascites |
|
Pancreatitis |
ORPHA:1160 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating total IgM, Decreased circulating IgA level |
OMIM:614878 |
Pancreatitis, Hereditary |
|
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... |
OMIM:167800 |
Chilblain Lupus |
|
Antiphospholipid antibody positivity, Rheumatoid factor positive, Raynaud phenomenon, Antinuclear... |
ORPHA:90280 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice |
OMIM:243300 |
Cernunnos-Xlf Deficiency |
|
Autoimmunity, Decreased circulating antibody level |
ORPHA:169079 |
Immunodeficiency 48 |
|
Panhypogammaglobulinemia |
OMIM:269840 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ... |
OMIM:604367 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating total IgM, Decreased circulating IgG level, Increased circulating IgE level... |
OMIM:619752 |
Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level |
OMIM:312863 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
ORPHA:436159 |
Gallbladder Disease 1 |
|
Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic fibrosis, Cholecystitis, Bile du... |
OMIM:600803 |
Immunodeficiency 37 |
|
Decreased circulating antibody level |
OMIM:616098 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, J... |
ORPHA:103918 |
Immunodeficiency 109 With Lymphoproliferation |
|
Decreased lymphocyte proliferation in response to anti-CD3, Decreased circulating IgG level, Comp... |
OMIM:620282 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating IgA level, Antinuclear antibody positivity, Anti-thyroid peroxidase antibod... |
OMIM:618048 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hepatic steatosis, Adrenal insufficiency, Pancreatitis, Hypoglycemia |
OMIM:619386 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia, Absent isohemagglutinin level |
OMIM:613501 |
Hereditary Chronic Pancreatitis |
|
Jaundice, Diabetes mellitus, Recurrent pancreatitis, Pancreatic calcification |
ORPHA:676 |
Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
Epilepsy-Telangiectasia Syndrome |
|
Conjunctival telangiectasia, Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Benign Recurrent Intrahepatic Cholestasis |
|
Jaundice, Chronic diarrhea, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular ... |
ORPHA:65682 |
Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level |
OMIM:300076 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
Eosinophilopenia |
|
Autoimmunity, Allergic rhinitis |
OMIM:131430 |
Myotonic Dystrophy 2 |
|
Tachycardia, Premature ventricular contraction, Right bundle branch block, Decreased circulating ... |
OMIM:602668 |
Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Glucose intolerance, Fasting hypoglycemia, Hyperglycemi... |
ORPHA:2298 |
Immunodeficiency 52 |
|
Autoimmune thrombocytopenia, Decreased circulating antibody level |
OMIM:617514 |
Immunodeficiency, Common Variable, 13 |
|
Decreased circulating antibody level |
OMIM:616873 |
Immunodeficiency, Common Variable, 11 |
|
Decreased circulating IgG level, Increased circulating IgE level |
OMIM:615767 |
Immunodeficiency, Common Variable, 6 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... |
OMIM:613496 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Pancreatitis, Dysphagia |
OMIM:618230 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Increased circulating IgM level, Increased circulating IgE level, Reduced antigen-specific T cell... |
OMIM:617241 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level, Vasculitis in the skin |
ORPHA:90000 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Autoimmunity, Hypoglycemic seizures, Increased hepatic glycogen content,... |
ORPHA:293964 |
Rosaï-Dorfman Disease |
|
Dysgammaglobulinemia |
ORPHA:158014 |
Low Phospholipid-Associated Cholelithiasis |
|
Diabetes mellitus, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirrhosis, Neopl... |
ORPHA:69663 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased T cell activation, Decreased specific anti-polysaccharide antibody level, Decreased CD6... |
OMIM:300853 |
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Transient hypogammaglobulinemia of infancy |
OMIM:251240 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Decreased circ... |
OMIM:619802 |
Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function |
OMIM:267500 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co... |
OMIM:208250 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, Au... |
ORPHA:3261 |
X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level |
ORPHA:2571 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:617744 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616910 |
Immunodeficiency 46 |
|
Decreased circulating antibody level |
OMIM:616740 |
Maple Syrup Urine Disease |
|
Vomiting, Pancreatitis, Hypoglycemia |
OMIM:248600 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Decreased circulating antibody level |
ORPHA:85317 |
Selective Igm Deficiency |
|
Autoimmunity, Autoimmune thrombocytopenia, Raynaud phenomenon, Antinuclear antibody positivity, P... |
ORPHA:331235 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Diarrhea, Biliary atresia, Cholestasis, Acholic stools, Hy... |
OMIM:615710 |
Familial Renal Glucosuria |
|
Hyperglycemia, Insulin resistance, Abnormal oral glucose tolerance, Glycosuria |
ORPHA:69076 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy |
OMIM:183350 |
Activated Pi3K-Delta Syndrome |
|
Increased circulating IgM level, Autoimmunity, Decreased circulating antibody level |
ORPHA:397596 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgG level, Increased circulating IgE level |
OMIM:618982 |
Sjogren Syndrome |
|
Autoimmunity, Xerostomia, Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid ar... |
OMIM:270150 |
Immunodeficiency 43 |
|
Decreased circulating IgG level, Decreased specific antibody response to polysaccharide vaccine, ... |
OMIM:241600 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Decreased circulating antibody level |
OMIM:616576 |
Transcobalamin Ii Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:275350 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Chronic diarrhea, Hepatic steatosis, Pancreatitis |
OMIM:618805 |
Donohue Syndrome |
|
Hyperinsulinemia, Cholestasis, Pancreatic islet-cell hyperplasia, Hepatic fibrosis, Fasting hypog... |
OMIM:246200 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia |
OMIM:604484 |
Lambert Syndrome |
|
Decreased circulating antibody level |
ORPHA:1296 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Vasculitis, Decreased circulating ant... |
OMIM:308240 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Increased circulating IgG level, Autoimmune hemolytic anemia, Autoimmunity |
OMIM:618495 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity |
OMIM:607624 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Retrobulbar optic neuritis, Hyperglycemia |
OMIM:619737 |
Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythema... |
ORPHA:48377 |
Ataxia-Pancytopenia Syndrome |
|
Abnormal platelet function, Decreased circulating antibody level |
ORPHA:2585 |
Familial Calcium Pyrophosphate Deposition |
|
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond... |
ORPHA:1416 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im... |
OMIM:308230 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased circulating antibody level |
OMIM:301045 |
Alpha-Heavy Chain Disease |
|
Dysgammaglobulinemia |
ORPHA:100025 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:90362 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Decreased circulating total IgM, Decrea... |
OMIM:614700 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Autoimmunity, Decreased circulating IgG level, Juvenile rheumatoid arthritis, Hashimoto thyroidit... |
ORPHA:275 |
Alopecia Antibody Deficiency |
|
Decreased circulating antibody level |
ORPHA:1006 |
Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Gastrointestinal hemorrhage, Sinusitis, Pericardit... |
ORPHA:727 |
Subacute Cutaneous Lupus Erythematosus |
|
Antiphospholipid antibody positivity, Rheumatoid factor positive, Anti-histone antibody positivit... |
ORPHA:163525 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Abnormal natural killer cell physiology, Decreased circulating antibody level |
OMIM:613101 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Autoimmune hemolytic anemia, Autoimmunity, Anticardiolipin IgG antibody positivity, Reduced natur... |
OMIM:615559 |
Schnitzler Syndrome |
|
Increased circulating IgM level, Vasculitis |
ORPHA:37748 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Decreased circulating total IgM, Patent ductus arteriosus, Decreased circulating IgG level, Decre... |
OMIM:607143 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Decreased lymphocyte apoptosis, Increased circulating antibody level, Autoimmunity, Autoimmune th... |
OMIM:614470 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Ballooning hepatocyte degeneration, Hepatic fibrosis, Hepatocellular carcino... |
OMIM:603471 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Incr... |
OMIM:102700 |
Igg4-Related Aortitis |
|
Autoimmunity, Increased circulating IgG4 level, Antinuclear antibody positivity, Cytoplasmic anti... |
ORPHA:449400 |
Bone Marrow Failure Syndrome 4 |
|
Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:618116 |
Dyskeratosis Congenita, Digenic |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:620040 |
C3 Glomerulopathy |
|
Autoimmunity, Paraproteinemia, Hypertension, Decreased circulating complement C3 concentration, C... |
ORPHA:329918 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Rheumatoid factor positive, Eczema, Perianal abscess, Lymphadenitis, Splenome... |
OMIM:618935 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level |
OMIM:152800 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia |
OMIM:608184 |
Immunodeficiency 27A |
|
Increased circulating IgG level, Increased circulating IgM level, Rheumatoid factor positive |
OMIM:209950 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Autoimmunity, Right ventricular failure, Decreased circulating ... |
ORPHA:90363 |
Dend Syndrome |
|
Hyperglycemia, Autoimmune antibody positivity, Vomiting |
ORPHA:79134 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media, Panhypogammaglobulinemia |
OMIM:601457 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Partial IgA deficiency, Lack of T cell function, Decreased circulating total IgM, Decreased lymph... |
ORPHA:35078 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin-resistant diabetes mell... |
ORPHA:79083 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Eczema, Constipation, Vomiting, Pancreatitis |
OMIM:606054 |
Bullous Pemphigoid |
|
Diabetes mellitus, Psoriasiform dermatitis, Autoimmunity, Eczema |
ORPHA:703 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Neutropenia in presence o... |
OMIM:615952 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Reduced natural killer cell activity |
OMIM:614493 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Insulin-resistant diabetes mellitus, Hepatic steatosis, Pancreatitis |
ORPHA:435651 |
Lymphoproliferative Syndrome 1 |
|
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Decreased circulating ant... |
OMIM:613011 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Decreased circulating antibody level |
ORPHA:1116 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
Wiskott-Aldrich Syndrome |
|
Autoimmune hemolytic anemia, Epistaxis, Increased circulating IgA level, Reduced natural killer c... |
OMIM:301000 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Hypoglycemia, Tubulointerstitial nephritis, Vomiting, Pancreatitis |
OMIM:251000 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Autoimmunity, Insulin resistance, Insulin-resistant diabetes me... |
ORPHA:79086 |
Reticular Dysgenesis |
|
Decreased circulating antibody level |
ORPHA:33355 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Autoimmunity, Decreased circulating antibody level |
OMIM:617780 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Autoimmunity, Systemic lupus erythematosus, Decreased circulating total IgM, Rheumatoid arthritis... |
ORPHA:183675 |
Adult Acute Respiratory Distress Syndrome |
|
Pancreatitis, Diabetic ketoacidosis, Pneumonia |
ORPHA:70578 |
Immunodeficiency 57 With Autoinflammation |
|
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... |
OMIM:618108 |
Necrotizing Enterocolitis |
|
Diarrhea, Peritonitis, Bloody diarrhea, Vomiting, Abnormal glucose homeostasis, Hyperglycemia |
ORPHA:391673 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Decreased circulating antibody level |
OMIM:618042 |
Adult Idiopathic Neutropenia |
|
Increased circulating IgM level, Antineutrophil antibody positivity |
ORPHA:2688 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Neutropenia in presence o... |
ORPHA:572 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Pancreatitis |
ORPHA:289916 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
ORPHA:79312 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hyperglycemia, Increased circulating cortisol level |
OMIM:615954 |
Agammaglobulinemia, X-Linked |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased circula... |
OMIM:300755 |
Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia |
OMIM:175700 |
Immunodeficiency 36 With Lymphoproliferation |
|
Increased circulating IgM level, Decreased circulating IgG level, Autoimmunity, Decreased circula... |
OMIM:616005 |
Ataxia-Telangiectasia |
|
Mucosal telangiectasiae, Telangiectasia of the skin, Decreased circulating antibody level |
ORPHA:100 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Arthritis... |
ORPHA:69126 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Decreased lymphocyte proliferation in response to anti-CD3, Decreased circulating antibody level,... |
ORPHA:221139 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatic steatosis, Pancreatitis |
ORPHA:2348 |
Mogs-Cdg |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:79330 |
Immunodeficiency 47 |
|
Tricuspid regurgitation, Decreased circulating total IgG, Decreased circulating antibody level, D... |
OMIM:300972 |
Cach Syndrome |
|
Hepatosplenomegaly, Optic neuritis, Vomiting, Dysphagia, Pancreatitis |
ORPHA:135 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Decreased circulating antibody level |
OMIM:300635 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Liver kidney microsome type 1 antibody positivity, Spider hemangioma... |
ORPHA:2137 |
Cole Disease |
|
Hyperglycemia |
OMIM:615522 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Aortic regurgitation, Aortic valve stenosis, Increased circulating antibody level |
OMIM:114065 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Increased circulating IgA level, Antinuclear antibody positivity, In... |
OMIM:617388 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Pancreatic adenocarcinoma, Hyperparathyroidism, Recurrent pancreatitis |
OMIM:145001 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Pericarditis, Rheumatoid factor positive, Monoclonal elevation of ci... |
ORPHA:91139 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Portal hypertension, Splenomegaly, Arthritis... |
ORPHA:465508 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:615190 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:612301 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Iridocyclitis, Type II diabetes mellitus, Dysphagia, Type I diabetes mellitus, Hypothyroidism, Pa... |
ORPHA:412057 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Intraventricular hemorrhage, Telangiectasia, Decreased circulating t... |
ORPHA:420741 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Hepatocellular carcinoma, Abnormal h... |
ORPHA:2088 |
Bardet-Biedl Syndrome 9 |
|
Hyperglycemia |
OMIM:615986 |
Thymoma |
|
Autoimmunity, Abnormal lymphocyte proliferation, Abnormal lymphocyte physiology, Anti-acetylcholi... |
ORPHA:99867 |
Felty Syndrome |
|
Rheumatoid arthritis |
OMIM:134750 |
Pemphigus Erythematosus |
|
Autoimmunity, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, S... |
ORPHA:79480 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Vomiting, Hypoglycemia |
OMIM:615453 |
Rasmussen Subacute Encephalitis |
|
Antinuclear antibody positivity, Decreased circulating total IgA, Autoimmunity, Anti-dsDNA antibo... |
ORPHA:1929 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Rheumatoid factor positive, Rheumatoid arthritis |
ORPHA:79099 |
Boutonneuse Fever |
|
Increased circulating IgG level, Vasculitis, Increased circulating IgM level |
ORPHA:83313 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... |
ORPHA:231154 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interleukin 6 concentration, Tachycardia, Heart block, Increased circulatin... |
ORPHA:542323 |
Bloom Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgG level, Facial telangiectasia in butter... |
OMIM:210900 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Pancreatitis |
ORPHA:27 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II ... |
OMIM:151660 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Decreased T cell activation, Decreased circulating antibody level |
ORPHA:353298 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia |
OMIM:619693 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Vomiting, Hyperglycemia, Hypopituitarism, Hypothyroidism, Nausea |
ORPHA:90065 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased circulating total IgM, Patent ductus arteriosus |
OMIM:618162 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating total IgA, Decreased circulating IgG level, Increased circulating antibody ... |
ORPHA:169160 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Panhypogammaglobulinemia |
ORPHA:251009 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:619767 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Abno... |
ORPHA:85410 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the spleen, Vomiting, Infectious ... |
ORPHA:2552 |
Tempi Syndrome |
|
Intracranial hemorrhage, Increased circulating IgG level, Telangiectasia |
ORPHA:284227 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating luteinizi... |
OMIM:617253 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Antiphospholipid antibody positivity, Rheumatoid factor positive, Increased circulating IgA level... |
OMIM:615934 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Hypoglycemia, Gout, Fasting hypoglycemia, Hepatocellular carcinoma, Intermittent di... |
OMIM:232200 |
Ring Chromosome 21 Syndrome |
|
Decreased circulating antibody level |
ORPHA:1445 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Autoimmune antibody positivity, Glycosuria, Hypergl... |
ORPHA:99885 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy... |
ORPHA:562639 |
Legionnaires Disease |
|
Pericarditis, Myocarditis, Diarrhea, Splenomegaly, Jaundice, Hepatitis, Endocarditis, Infectious ... |
ORPHA:549 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia |
ORPHA:681 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:207750 |
Xq28 (MECP2) duplication |
|
Decreased circulating IgA level |
DECIPHER:45 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating IgA level, Autoimmune thrombocytopenia, Increased circulating IgE level, In... |
ORPHA:169154 |
Hyperlipoproteinemia, Type I |
|
Nausea, Splenomegaly, Jaundice, Hepatosplenomegaly, Vomiting, Pancreatitis |
OMIM:238600 |
Isolated Sedoheptulokinase Deficiency |
|
Portal hypertension, Hepatitis, Cholestasis, Cholestatic liver disease, Steatorrhea, Postprandial... |
ORPHA:440713 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Mitral regurgitation, Decreased circulating antibody level |
OMIM:619750 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Diarrhea, Hepatitis, Me... |
ORPHA:319218 |
Systemic Capillary Leak Syndrome |
|
Myocarditis, Pericarditis, Pancreatitis, Diarrhea |
ORPHA:188 |
Lymphoproliferative Syndrome 2 |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibody level |
OMIM:615122 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Pancreatitis |
OMIM:145980 |
Short Syndrome |
|
Insulin resistance, Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus |
OMIM:269880 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level |
OMIM:215250 |
Bloom Syndrome |
|
Telangiectasia, Decreased circulating antibody level, Decreased circulating total IgM, Decreased ... |
ORPHA:125 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Hypoglycemia, Pancreatic fibrosis, Splenomegaly, Gout, Inflammation of the large in... |
OMIM:232220 |
Secondary Non-Traumatic Avascular Necrosis |
|
Limitation of joint mobility, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus |
ORPHA:399180 |
Immunodeficiency 81 |
|
Autoimmune hemolytic anemia, Reduced natural killer cell activity, Reduced antigen-specific T cel... |
OMIM:619374 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Increased circulating IgE level, Decreased circulating antibody level, Decreased circulating tota... |
ORPHA:508533 |
Pancreatic And Cerebellar Agenesis |
|
Diabetes mellitus, Hypoglycemia, Hyperglycemia, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:609069 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hypoglycemia, Diarrhea, Vomiting, Hyperglycemia |
ORPHA:134 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Decreased circulating total IgM, Patent ductus arteriosus, Restrictive cardiomyopathy, Decreased ... |
ORPHA:369837 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Portal hypertension, Patent ductus arteriosus, Decreased circulating total IgM, Pulmonary arteria... |
OMIM:620005 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, Increase... |
ORPHA:540 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Cutaneous anergy, Panhypogammaglobulinemia, Decreased lymphocyte proliferation in response to ant... |
OMIM:600802 |
Immunodeficiency 92 |
|
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating IgG level... |
OMIM:619652 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
Mirizzi Syndrome |
|
Nausea, Jaundice, Gallbladder perforation, Vomiting, Cholesterol gallstones, Cholelithiasis, Abno... |
ORPHA:521219 |
Primary Sclerosing Cholangitis |
|
Hepatomegaly, Cholangiocarcinoma, Autoimmunity, Portal hypertension, Hepatocellular carcinoma, Sp... |
ORPHA:171 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
OMIM:608612 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgM level, Vasculitis, Increased circulating IgA level |
OMIM:617099 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:615812 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Primary hyperparathyroidism, Pancreatitis |
OMIM:145981 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Autoimmunity, Splenomegaly, Juvenile rhe... |
ORPHA:85414 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Cholangitis, Autoimmunity, Portal hypertension, Hypersplenism, Anti-thyroid peroxidase antibody p... |
ORPHA:228426 |
Bone Marrow Failure Syndrome 5 |
|
Decreased circulating antibody level |
OMIM:618165 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Primary hypercortisolism, Increased circulating cortisol level, Pancreatitis |
OMIM:610475 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Autoimmune hemolytic anemia, Impaired T cell function, Autoimmune thrombocyt... |
OMIM:613179 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Decreased circulating IgG level, Bone marrow hypocellularity, Antine... |
OMIM:301078 |
Achalasia, Familial Esophageal |
|
Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:200400 |
Bare Lymphocyte Syndrome, Type Ii |
|
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia |
OMIM:209920 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Vomiting, Infectious encephalitis, Nep... |
ORPHA:73263 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Diabetes mellitus, Perianal abscess, Jaundice, Hepatosplenomegaly, Recurrent ... |
ORPHA:444490 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypothyroidism, Gout, Hepatic steatosis |
ORPHA:412 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Autoimmune hemolytic anemia, Autoimmunity, Decreased circulating antibody level, Agammaglobulinem... |
OMIM:243150 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgE level, Pulmonic stenosis, Decreased circulating IgA level |
OMIM:618282 |
Rheumatoid Arthritis |
|
Rheumatoid factor positive, Joint stiffness, Anti-citrullinated protein antibody positivity, Join... |
OMIM:180300 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Increased circulating IgM level, Decreased circulating IgA level |
OMIM:242860 |
Acute Lung Injury |
|
Acute pancreatitis, Pneumonia |
ORPHA:178320 |
Schimke Immuno-Osseous Dysplasia |
|
Pancreatitis, Autoimmunity, Abnormality of thyroid physiology, Minimal change glomerulonephritis |
ORPHA:1830 |
Caroli Syndrome |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Hematemesis, C... |
ORPHA:480520 |
Immunodeficiency 23 |
|
Rheumatoid factor positive, Increased circulating IgE level, Increased circulating IgG level, Inc... |
OMIM:615816 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hepatic steatosis, Pancreatitis |
OMIM:236200 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Agammaglobulinemia, Panhypogammaglobulinemia, Decreased circulating antibody level |
OMIM:601495 |
Citrullinemia Type Ii |
|
Hepatomegaly, Diarrhea, Hepatic fibrosis, Vomiting, Hepatocellular carcinoma, Hepatic steatosis, ... |
ORPHA:247585 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Acute pancreatitis, Hypoglycemia, Vomiting, Dysphagia, Hepatic periportal necrosis |
ORPHA:26791 |
Cystic Fibrosis |
|
Hepatomegaly, Meconium ileus, Diarrhea, Recurrent pneumonia, Ileus, Bronchiectasis, Biliary cirrh... |
OMIM:219700 |
Lassa Fever |
|
Shock, Increased circulating IgM level |
ORPHA:99824 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormal immunoglobulin level, Increased circulating IgG level, Decreased lymphocyte proliferatio... |
ORPHA:276 |
Pauci-Immune Glomerulonephritis |
|
Glomerulonephritis, Antinuclear antibody positivity, Cytoplasmic antineutrophil antibody positivi... |
ORPHA:93126 |
Immunodeficiency 56 |
|
Panhypogammaglobulinemia |
OMIM:615207 |
Angiostrongyliasis |
|
Increased circulating specific IgE antibody, Increased circulating IgG level, Increased circulati... |
ORPHA:74 |
X-Linked Agammaglobulinemia |
|
Agammaglobulinemia, Autoimmunity |
ORPHA:47 |
Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level |
OMIM:604928 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatic steatosis, Hepatomegaly, Hypoglycemia, Diarrhea, Enterocolitis, Gout, Ulcerative colitis,... |
ORPHA:79259 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune thrombocytopen... |
ORPHA:227990 |
Familial Mediterranean Fever |
|
Intestinal obstruction, Pericarditis, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Diarrhea... |
ORPHA:342 |
Immunodeficiency 12 |
|
Absent isohemagglutinin level, Complete or near-complete absence of specific antibody response to... |
OMIM:615468 |
Vici Syndrome |
|
Decreased circulating IgG2 level, Decreased circulating IgG level, Cardiomyopathy |
ORPHA:1493 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Pulmonary embolism, Budd-Chiari syndrome, Decreased circulating antibody level |
OMIM:226300 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level |
ORPHA:206594 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Anti-thyroid peroxidase antibody positivity, Secretory diarrhea, Tubulointerstitial nep... |
ORPHA:37042 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune hypoparathyroi... |
ORPHA:227982 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:606056 |
Immunodeficiency 59 And Hypoglycemia |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:233600 |
Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating antibody level |
ORPHA:634 |
Griscelli Syndrome |
|
Bone marrow hypocellularity, Decreased circulating antibody level |
ORPHA:381 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatic steatosis, Pancreatitis |
ORPHA:280365 |
Rabson-Mendenhall Syndrome |
|
Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... |
ORPHA:769 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Diarrhea, Jaundice, Lipid accumulation... |
ORPHA:20 |
Visceral Myopathy 1 |
|
Gastroparesis, Diarrhea, Constipation, Vomiting, Dysphagia, Pancreatitis |
OMIM:155310 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Patent ductus arteriosus, Decreased specific anti-polysaccharide antibody level, Impaired T cell ... |
OMIM:614576 |
Hereditary Folate Malabsorption |
|
Decreased circulating antibody level |
ORPHA:90045 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Decreased lymphocyte proliferation in response to anti-CD3, Increase... |
OMIM:606367 |
Primary Biliary Cholangitis |
|
Orthostatic hypotension, Autoimmunity, Portal hypertension, Increased circulating IgA level, Anti... |
ORPHA:186 |
Autosomal Agammaglobulinemia |
|
Agammaglobulinemia |
ORPHA:33110 |
Zika Virus Disease |
|
Increased circulating IgM level |
ORPHA:448237 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, ... |
OMIM:248370 |
Icf Syndrome |
|
Decreased circulating antibody level |
ORPHA:2268 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Lymphadenitis, Dysphagia, Nephritis, Pancreatitis, Parotitis |
ORPHA:449427 |
Mccune-Albright Syndrome |
|
Hyperthyroidism, Elevated circulating growth hormone concentration, Hepatitis, Cholestasis, Hepat... |
ORPHA:562 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Autoimmunity, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, ... |
ORPHA:64744 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... |
OMIM:106300 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Increased inflammatory response, Pericarditis, Sinusitis, Intestinal... |
ORPHA:900 |
Igg4-Related Kidney Disease |
|
Pericarditis, Inflammatory abnormality of the skin, Rheumatoid factor positive, Antinuclear antib... |
ORPHA:449395 |
Macrophage Activation Syndrome |
|
Increased circulating interleukin 6 concentration, Autoimmunity, Increased circulating interferon... |
ORPHA:158061 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatic steatosis, Acute pancreatitis, Pericarditis, Hepatomegaly, Chilblains, Portal hypertensio... |
OMIM:619487 |
Common Variable Immunodeficiency |
|
Vasculitis, Autoimmune thrombocytopenia, Decreased circulating antibody level |
ORPHA:1572 |
Mgat2-Cdg |
|
Patent ductus arteriosus, Decreased circulating antibody level, Decreased lymphocyte proliferatio... |
ORPHA:79329 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Jaundice, Pancreatitis |
ORPHA:370348 |
Netherton Syndrome |
|
Decreased circulating IgG level, Increased circulating IgE level |
OMIM:256500 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Intrahepatic cholestasis, Fasting hypoglycemia, Glycosuria, Postprandial hyperglycemia |
OMIM:227810 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to anti-CD3, Part... |
OMIM:618986 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Tubulointerstitial neph... |
OMIM:124000 |
Mohr-Tranebjaerg Syndrome |
|
Agammaglobulinemia |
ORPHA:52368 |
Schimke Immunoosseous Dysplasia |
|
Transient ischemic attack, Abnormal immunoglobulin level, Decreased circulating antibody level, H... |
OMIM:242900 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased circulating total IgG, Decreased circulating total IgM, Vasculitis in the skin, Decreas... |
OMIM:619381 |
Macrocephaly/Autism Syndrome |
|
Decreased circulating antibody level |
OMIM:605309 |
Behçet Disease |
|
Gastrointestinal hemorrhage, Increased inflammatory response, Myositis, Pericarditis, Acne, Orchi... |
ORPHA:117 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Autoimmunity, Hashimoto thyroiditis, Portal hypertension, Decreased circulating IgA level |
OMIM:613385 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Splenomegaly, Pancreatitis |
ORPHA:565612 |
Scorpion Envenomation |
|
Acute pancreatitis, Myocarditis, Diarrhea, Hyperhidrosis, Vomiting, Glycosuria, Hyperglycemia |
ORPHA:466677 |
Thyrotoxic Periodic Paralysis |
|
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... |
ORPHA:79102 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Keratitis, Orchitis, Antinuclear antibody positivity, Retroperitoneal fib... |
ORPHA:449563 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Hypoglycemia, Hepatoblastoma, Chronic pancreatitis, Gout, Inflammation of the large... |
OMIM:232240 |
Igg4-Related Submandibular Gland Disease |
|
Autoimmunity, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul... |
ORPHA:449432 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Portal hypertension, Abnormal circulating interferon-gamma concentration, Abnormal circulating in... |
ORPHA:79124 |
Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Abnormality of the spleen, P... |
ORPHA:228123 |
Infection-Related Hemolytic Uremic Syndrome |
|
Diabetes mellitus, Pneumonia, Myocarditis, Diarrhea, Pancreatitis, Secretory diarrhea, Bloody dia... |
ORPHA:544482 |
Melas |
|
Hypoparathyroidism, Diabetes mellitus, Diarrhea, Vomiting, Recurrent pancreatitis, Constipation, ... |
ORPHA:550 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Primary hyperparathyroidism, Pancreatitis |
OMIM:600740 |
Pgm3-Cdg |
|
Rheumatoid factor positive, Autoimmunity, Increased circulating IgA level, Increased circulating ... |
ORPHA:443811 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hyperglycemia, Vomiting, Hypoglycemia |
ORPHA:3008 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Cardiomyopathy, Decreased circulating antibody level |
OMIM:616084 |
Smith-Kingsmore Syndrome |
|
Decreased circulating IgA level |
OMIM:616638 |
Hereditary Orotic Aciduria |
|
Patent ductus arteriosus, Impaired T cell function |
ORPHA:30 |
Mucopolysaccharidosis-Plus Syndrome |
|
Congestive heart failure, Patent ductus arteriosus, Increased circulating IgM level, Bone marrow ... |
OMIM:617303 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Cholangitis, Eczema, Splenomegaly, Chronic diarrhea, Dyspha... |
ORPHA:3260 |
Liver Failure, Infantile, Transient |
|
Decreased circulating IgG level |
OMIM:613070 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Increased circulating IgE level, Panhypogammaglobulinemia |
OMIM:602450 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Splenomegaly, Chronic diarrhea, Gastroesophageal reflux, Recurrent pancreatitis, St... |
OMIM:618268 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Diarrhea, Peritonitis, Bloody diarrhea, Vomiting, Pancreatitis, Acute colitis |
ORPHA:90038 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Portal hypertension, Raynaud phenomenon, Dilated cardiomyopathy, Vasculitis, Decreased circulatin... |
OMIM:615688 |
Familial Hypocalciuric Hypercalcemia |
|
Autoimmunity, Pancreatitis |
ORPHA:405 |
Alg12-Cdg |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... |
ORPHA:79324 |
Good Syndrome |
|
Decreased circulating antibody level |
ORPHA:169105 |
Immunodeficiency 58 |
|
Decreased specific antibody response to vaccination, Decreased T cell activation, Decreased circu... |
OMIM:618131 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Decreased circulating IgA level |
ORPHA:457485 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Glomerulonephritis, Decreased response to growth hormone stimulation test, Antinucl... |
ORPHA:470 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased T cell activation, Orthostatic hypotension due to autonomic dysfunction |
ORPHA:66628 |
Aregenerative Anemia |
|
Abnormality of interleukin secretion, Bone marrow hypocellularity |
ORPHA:101096 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Decreased circulating antibody level |
OMIM:617425 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Patent ductus arteriosus, Increas... |
ORPHA:505248 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Splenomegaly, Hyperinsulinemia, Insulin-resi... |
OMIM:608594 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Autoimmune antibody positivity, Autoimmune thrombocytopenia, Hypotension, Decreased circulating a... |
ORPHA:293978 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Diarrhea, Conjunctivitis, Dysphagia, Pancreatitis |
ORPHA:36426 |
Multiple Myeloma |
|
Increased circulating IgG level, Increased circulating IgA level, Decreased circulating antibody ... |
ORPHA:29073 |
Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Chronic pancreatitis |
OMIM:613159 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased T cell activation, Orthostatic hypotension due to autonomic dysfunction |
ORPHA:179494 |
Marburg Hemorrhagic Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Hypoglycemia, Orchitis, Pancreatitis, Diarrhea,... |
ORPHA:99826 |
Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Osteolysis, Rh... |
ORPHA:100026 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Defective T cell proliferation, Increased circulating IgG level, Decreased T cell activation, Inc... |
OMIM:618213 |
Distal Deletion 19P |
|
Decreased circulating antibody level |
ORPHA:96129 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Nausea, Splenomegaly, Diarrhea, Vomiting, Pancreatitis |
OMIM:222700 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia, Decreased circulating IgA l... |
OMIM:613327 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinuclear anti... |
ORPHA:79078 |
Leprechaunism |
|
Hepatomegaly, Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyperaldosteronism, R... |
ORPHA:508 |
Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Chronic decreased cirulating IgG2 |
OMIM:615607 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Diabetes mellitus, Biliary atresia, Glycosuria, Hyperglycemia, Pancreatic hyp... |
OMIM:600001 |
Glycerol Kinase Deficiency |
|
Episodic vomiting, Adrenal insufficiency, Hypoglycemia, Chronic pancreatitis |
OMIM:307030 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Constipation, Gastroesophageal reflux, Asp... |
ORPHA:444077 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Conjunctivitis, Pancreatitis, Dysphagia |
ORPHA:537 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Decreased circulating total IgM |
ORPHA:83617 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Splenomegaly, Hyperinsulinemia, Insulin-resistant diabetes mell... |
OMIM:269700 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Go... |
ORPHA:293987 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia |
ORPHA:935 |
Rift Valley Fever |
|
Hematemesis, Retinal hemorrhage, Melena, Increased circulating IgG level, Increased circulating I... |
ORPHA:319251 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Decreased circulating IgG level, Decreased circulating IgG2 level, D... |
OMIM:208900 |
Monosomy 18Q |
|
Left-to-right shunt, Congestive heart failure, Patent ductus arteriosus, Mitral regurgitation, Ao... |
ORPHA:1600 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... |
OMIM:617062 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Primary hyperparathyroidism, Constipation, Dysphagia, Pancreatitis |
ORPHA:99880 |
Mannosidosis, Alpha B, Lysosomal |
|
Decreased circulating antibody level |
OMIM:248500 |
Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Acute pancreatitis, Erythema nodosum, Hematemesis, Diarrhea, Epididymitis, Myocardi... |
ORPHA:99827 |
Myasthenia Gravis |
|
Myositis, Anti-acetylcholine receptor antibody positivity, Anti-muscle-specific tyrosine kinase a... |
ORPHA:589 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Primary hyperparathyroidism, Constipation, Dysphagia, Pancreatitis |
ORPHA:143 |
Atypical Werner Syndrome |
|
Diabetes mellitus, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Hyperinsulinemi... |
ORPHA:79474 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hematochezia, Decreased circulating antibody level |
OMIM:618183 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatic adenocarcinoma, Thyroiditis, Neoplasm of the gallbladder, Hepatobl... |
ORPHA:733 |
Bardet-Biedl Syndrome 20 |
|
Pancreatitis |
OMIM:619471 |
Cowden Syndrome 1 |
|
Decreased circulating antibody level |
OMIM:158350 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Panhypogammaglobulinemia |
OMIM:307200 |
Trichothiodystrophy 1, Photosensitive |
|
Decreased circulating IgG level, Telangiectasia |
OMIM:601675 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen |
OMIM:602361 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Oligoclonal T cell expansion, Autoimmunity, Decreased lymphocyte proliferation in response to mit... |
ORPHA:83471 |
Orotic Aciduria |
|
Impaired T cell function |
OMIM:258900 |
Overlap Myositis |
|
Subluxation of the small joints of the hand, Autoimmunity, Antinuclear antibody positivity, Syste... |
ORPHA:206572 |
Vici Syndrome |
|
Decreased circulating IgG level, Congestive heart failure, Dilated cardiomyopathy, Decreased T ce... |
OMIM:242840 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Reduced delayed hypersensitivity |
OMIM:242700 |
Say-Barber-Miller Syndrome |
|
Decreased circulating IgG level, Transient hypogammaglobulinemia of infancy, Impaired neutrophil ... |
ORPHA:3132 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Cardiomyopathy, Pericarditis, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:212065 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Impaired T cell function |
OMIM:201100 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Increased hepatocellular lipid droplets, Microvesicular hepatic steatosis, Vomiting... |
OMIM:220111 |
Yellow Fever |
|
Shock, Increased circulating interleukin 6 concentration, Supraventricular arrhythmia, Hematemesi... |
ORPHA:99829 |
Neutral Lipid Storage Myopathy |
|
Hepatomegaly, Diabetes mellitus, Chronic pancreatitis, Cholecystitis, Hepatic steatosis |
ORPHA:98908 |
Tick-Borne Encephalitis |
|
Increased circulating IgG level, Increased circulating IgM level, Abnormality of serum cytokine l... |
ORPHA:297 |
Lipodystrophy, Familial Partial, Type 7 |
|
Impaired glucose tolerance, Diarrhea, Insulin resistance, Glucose intolerance, Recurrent pancreat... |
OMIM:606721 |
Celiac Disease, Susceptibility To, 1 |
|
Decreased circulating IgA level |
OMIM:212750 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Dysgammaglobulinemia |
OMIM:251260 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmunity, Pneumonia, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Systemic l... |
OMIM:607944 |
Japanese Encephalitis |
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Increased circulating IgM level, Increased circulating antibody level |
ORPHA:79139 |
Trichohepatoenteric Syndrome 1 |
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Aortic regurgitation, Pulmonic stenosis, Decreased circulating antibody level |
OMIM:222470 |
Primary Sjögren Syndrome |
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Raynaud phenomenon, Vasculitis, Decreased circulating antibody level, Decreased circulating compl... |
ORPHA:289390 |
Brucellosis |
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Pericarditis, Transient ischemic attack, Rheumatoid factor positive, Myocarditis, Increased circu... |
ORPHA:1304 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
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Decreased circulating antibody level |
ORPHA:79396 |
Syndromic Diarrhea |
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Aortic regurgitation, Patent ductus arteriosus, Panhypogammaglobulinemia |
ORPHA:84064 |
Mirage Syndrome |
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Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia |
OMIM:617053 |
Lymphoid Interstitial Pneumonia |
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Skin rash, Autoimmunity, Eczema, Autoimmune antibody positivity, Bronchiectasis, Keratoconjunctiv... |
ORPHA:79128 |
Whim Syndrome |
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Decreased circulating antibody level |
ORPHA:51636 |
Cartilage-Hair Hypoplasia |
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Heart block, Cardiomyopathy, Decreased circulating antibody level |
ORPHA:175 |
Congenital Tricuspid Stenosis |
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Rheumatoid arthritis, Bacterial endocarditis |
ORPHA:95459 |
Igg4-Related Retroperitoneal Fibrosis |
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Psoriasiform dermatitis, Rheumatoid factor positive, Deep dermal perivascular inflammatory infilt... |
ORPHA:49041 |
Hereditary Xanthinuria |
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Arthropathy, Rheumatoid arthritis, Gout |
ORPHA:3467 |
Sarcoidosis, Susceptibility To, 1 |
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Pulmonary arterial hypertension, Abnormality of T cell physiology, Increased circulating antibody... |
OMIM:181000 |
Trichothiodystrophy |
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Cardiomyopathy, Panhypogammaglobulinemia |
ORPHA:33364 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat... |
OMIM:256040 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Gastrointestinal hemorrhage, Decreased circulating antibody level |
ORPHA:247598 |
Dubowitz Syndrome |
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Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:223370 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
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Decreased circulating IgG level |
OMIM:271510 |
Hennekam Syndrome |
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Decreased circulating antibody level |
ORPHA:2136 |
Velocardiofacial Syndrome |
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Impaired T cell function |
OMIM:192430 |
Thrombocytopenia-Absent Radius Syndrome |
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Patent ductus arteriosus, Decreased circulating antibody level |
OMIM:274000 |
Parenteral Nutrition-Associated Cholestasis |
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Abnormality of cytokine secretion, Portal hypertension |
ORPHA:567983 |
Progeroid Short Stature With Pigmented Nevi |
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Aortic valve stenosis, Impaired T cell function |
OMIM:176690 |
Pearson Syndrome |
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Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Splenomegaly,... |
ORPHA:699 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Decreased circulating IgG level |
OMIM:618278 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Abnormality of T cell physiology |
ORPHA:2237 |
22Q11.2 Deletion Syndrome |
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Gastrointestinal hemorrhage, Impaired T cell function, Autoimmunity, Patent ductus arteriosus, Tr... |
ORPHA:567 |
Microphthalmia, Syndromic 9 |
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Hypoplastic spleen, Multilobulated spleen |
OMIM:601186 |
Leukocyte Adhesion Deficiency Type Ii |
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Abnormal isohemagglutinin level |
ORPHA:99843 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
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Antinuclear antibody positivity, Autoimmunity, Abnormality of tumor necrosis factor secretion |
ORPHA:85436 |
Alström Syndrome |
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Decreased response to growth hormone stimulation test, Gastroesophageal reflux, Hepatic fibrosis,... |
ORPHA:64 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Increased circulating IgG level, Increased circulating antibody level, Vitreous hemorrhage |
ORPHA:91500 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Transient ischemic attack, Patent ductus arteriosus after birth at term, Secretory IgA deficiency... |
ORPHA:500150 |
Sponastrime Dysplasia |
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Decreased circulating antibody level |
ORPHA:93357 |
Digeorge Syndrome |
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Patent ductus arteriosus, Truncus arteriosus, Impaired T cell function |
OMIM:188400 |
Viss Syndrome |
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Epidural hemorrhage, Patent ductus arteriosus, Increased circulating IgE level, Increased circula... |
OMIM:619472 |
Mowat-Wilson Syndrome |
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Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Decreased circulating antibod... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Patent ductus arteriosus, Hyphema, Decreased circulating antibody level, Pulmonic stenosis, Aorti... |
ORPHA:261552 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Aortic valve stenosis, Pulmonic stenosis, Decreased circulating antibody level |
ORPHA:261537 |