Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Autoimmunity, Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific pneu... |
OMIM:617006 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Pneumonia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Glomerulonephritis, ... |
OMIM:247800 |
Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Anti-thyroid peroxidase antibody positivity, Mediastinal lymphadenopathy,... |
OMIM:618534 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
OMIM:601859 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Autoimmunity, Lymphadenopathy, Splenomegaly, Increased proportion autoreactive unresponsive CD21-... |
OMIM:615559 |
Immunodeficiency 24 |
|
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... |
OMIM:615897 |
Immunodeficiency 72 With Autoinflammation |
|
Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Bron... |
OMIM:618982 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... |
OMIM:619375 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased circulating IgG level, Otitis media, Decreased proportion of CD4-... |
OMIM:312863 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
OMIM:603909 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... |
OMIM:619220 |
Immunodeficiency, Common Variable, 6 |
|
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Decreased specific pneumococcal antibody lev... |
OMIM:613496 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Recurrent otitis media, Defective T cell proliferat... |
OMIM:615615 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia |
OMIM:183350 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Immunodeficiency 15A |
|
Recurrent otitis media, Acne inversa, Chronic mucocutaneous candidiasis, Decreased proportion of ... |
OMIM:618204 |
Wiskott-Aldrich Syndrome 2 |
|
Eczema, Defective T cell proliferation, Reduced natural killer cell activity, Decreased proportio... |
OMIM:614493 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmunity, Lymphadenopathy, Recurrent otitis media, Splenomegaly, Recurrent urin... |
OMIM:618495 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Immunodeficiency 27A |
|
Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Pneumonia, Lymphadenopathy, Salmone... |
OMIM:209950 |
Immunodeficiency 25 |
|
Erythroderma, Complete or near-complete absence of specific antibody response to tetanus vaccine,... |
OMIM:610163 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Erythroderma, Lymphadenopathy, Increased circulating IgA level, Decreased lymphocyte... |
ORPHA:169154 |
Immunodeficiency 14A, Autosomal Dominant |
|
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... |
OMIM:615513 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Absent tonsils, Decreased circulating IgA level, Decreased circulating IgG level, Abnormality of ... |
OMIM:611926 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Mental Retardation, Autosomal Recessive 2 |
|
Attention deficit hyperactivity disorder |
OMIM:607417 |
Nephrotic Syndrome, Type 7 |
|
Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... |
OMIM:615008 |
Immunodeficiency 17 |
|
Eczema, Recurrent otitis media, Decreased proportion of CD8-positive T cells, Autoimmune hemolyti... |
OMIM:615607 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level, Thrombocytopenia, Hematuria, Glomerulonephritis |
OMIM:314000 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed ... |
OMIM:617241 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly |
OMIM:606445 |
Caspase 8 Deficiency |
|
Eczema, Pneumonia, Lymphadenopathy, Decreased circulating IgA level, Decreased circulating IgG le... |
OMIM:607271 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... |
OMIM:618987 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, B lymphocytopenia, Sinusitis, Inflammatory abnormality of the skin, Autoimmunity,... |
ORPHA:277 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Autoimmunity, Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, S... |
OMIM:614470 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmunity, Lymphadenopathy, Hepatitis, Recurrent otitis media, Systemic lupus erythematosus, S... |
ORPHA:444463 |
Histiocytosis, Familial Lipochrome |
|
Increased alpha-globulin, Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Systemic Lupus Erythematosus |
|
Lupus nephritis, Pericarditis, Leukopenia, Nephritis, Systemic lupus erythematosus, Arthritis, Ma... |
OMIM:152700 |
Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... |
OMIM:247630 |
Immunodeficiency 52 |
|
Bronchiectasis, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Ly... |
OMIM:617514 |
Immunodeficiency 48 |
|
Hepatomegaly, Eczematoid dermatitis, Pneumonia, Splenomegaly, Panhypogammaglobulinemia |
OMIM:269840 |
Tubulointerstitial Nephritis With Uveitis |
|
Elevated circulating creatinine concentration, Reversible renal failure, Circulating immune compl... |
OMIM:607665 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Hepatomegaly, Eczema, Pneumonia, Lymphadenopathy, Splenomegaly, Otitis media, T lymphocytopenia |
OMIM:608971 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level... |
OMIM:615285 |
Autoimmune Hepatitis |
|
Inflammation of the large intestine, Splenomegaly, Diffuse hepatic steatosis, Jaundice, Increased... |
ORPHA:2137 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level, Erythroid hypoplasia |
OMIM:242880 |
C1Q Deficiency |
|
Autoimmunity, Systemic lupus erythematosus, Decreased serum complement factor I, Membranoprolifer... |
OMIM:613652 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Mediastinal lymphadenopathy, Decreased CD69 upregulation upon TCR activation, Bronchiectasis, Lym... |
OMIM:300853 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Pneumonia... |
OMIM:607594 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... |
OMIM:606843 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmunity, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, N... |
ORPHA:3261 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Bence Jones Proteinuria, Anemia, Splenomega... |
ORPHA:100024 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of CD3-positive T cells, Jaundice, Absent tonsils, Lymph node hypoplasia, Re... |
ORPHA:276 |
Severe Combined Immunodeficiency, X-Linked |
|
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Pne... |
OMIM:300400 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder |
OMIM:618830 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia |
OMIM:233650 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Abnormal glomerular mesangium morphology, Synovitis, Nephrotic syndrome, Decreased serum compleme... |
ORPHA:567544 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
C3 Glomerulopathy |
|
Autoimmunity, C3 nephritic factor positivity, Nephrotic syndrome, Decreased serum complement C4, ... |
ORPHA:329918 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Nephrotic syndrome, Systemic lupus erythematosus, Decreased serum complement C3, Membranoprolifer... |
OMIM:613779 |
Glycoprotein Storage Disease |
|
Gout, Splenomegaly |
OMIM:232900 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Nephrotic syndrome, Stomatitis, Lymphadenopathy, Lymphadenitis, Pneumonia, Chronic oral candidias... |
ORPHA:911 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... |
OMIM:614699 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Autoimmunity, Follicular hyperplasia, Bronchiectasis, Lymphadenopathy, Decreased ci... |
OMIM:240500 |
Transcobalamin Deficiency |
|
Neutropenia, Methylmalonic aciduria, Decreased circulating IgA level, Decreased circulating IgG l... |
ORPHA:859 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anti-glutamic acid decarboxylase antibody positivity, Eczema, Neutropenia, Erythroderma, Glomerul... |
OMIM:304790 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Neutropenia, Infectious encephalitis, Lymphadenopathy, Reduced natural killer cell ... |
OMIM:308240 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Atopic dermatitis, Decreased proportion of class-switched memory B cells, Increased circulating i... |
OMIM:618944 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... |
OMIM:153600 |
Immunodeficiency 89 And Autoimmunity |
|
Hypochromic microcytic anemia, Bronchiectasis, Increased circulating IgA level, Increased circula... |
OMIM:619632 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Eczema, Psoriasiform dermatitis, Bronchiectasis, Lymphadenopathy, Decreased circula... |
OMIM:616100 |
Neutropenia, Chronic Familial |
|
Periodontitis, Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Nephrotic Syndrome, Type 23 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... |
OMIM:619201 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Nephrotic syndrome, Membranous nephropathy, Hepatic cysts, Colonic eosinophili... |
OMIM:618999 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Autoimmunity, Leukopenia, Stomatitis, Lymphadenopathy, Decreased circulating IgG le... |
OMIM:613011 |
Immunodeficiency 60 And Autoimmunity |
|
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Perinuclear ant... |
OMIM:618394 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells, Bronchiectasis |
OMIM:608957 |
Pgm3-Cdg |
|
Autoimmunity, Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Chronic ... |
ORPHA:443811 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Autoimmunity, Abnormal B cell count, Lymphadenitis, Decreased circulating IgA level... |
ORPHA:331206 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Keratoconjunctivitis sicca, Hepatomegaly, Increased circulating IgA level, Increased circulating ... |
OMIM:617388 |
Immunodeficiency 50 |
|
Eczema, Neutropenia, Decreased circulating antibody level, Recurrent urinary tract infections, Ly... |
OMIM:300988 |
Immunodeficiency 76 |
|
B lymphocytopenia, Colitis, Lymphadenopathy, Splenomegaly, Recurrent pneumonia, Lymphopenia, T ly... |
OMIM:619164 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Elevated urinary delta-aminolevulinic acid, Nonspherocytic hemolytic anemia, Splenomegaly |
OMIM:206400 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Iron deficiency anemia, Antineutrophil antibody positivity, Cardiomegaly, Rheumatoi... |
ORPHA:99931 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia |
OMIM:200900 |
Immunodeficiency 84 |
|
B lymphocytopenia, Perianal abscess, Splenomegaly |
OMIM:619437 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Thrombocytosis, Pustule, Leukopenia, Myositis, Increased circulating IgA level, Paratracheal lymp... |
OMIM:615934 |
Complement Component 4A Deficiency |
|
Decreased serum complement C4, Reduced hemolytic complement activity, Glomerulonephritis, Systemi... |
OMIM:614380 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Renal insufficiency, Nephrotic syndrome, Glomerular deposits |
ORPHA:69063 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Nephrotic syndrome, Monocytosis, Lymphadenopathy, Hemolytic-uremic syndrome, Renal ... |
OMIM:619644 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Erythroderma, Decreased circulating total IgA, Pneumonia, Chronic oral candidiasis, Hepatitis, De... |
ORPHA:169160 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi... |
OMIM:613101 |
Nephrotic Syndrome, Type 10 |
|
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon... |
OMIM:615861 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Autoimmunity, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:228312 |
Candidiasis, Familial, 2 |
|
Lymphadenopathy, Chronic oral candidiasis, Decreased serum iron, Increased circulating IgE level,... |
OMIM:212050 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, B lymphocytopenia, Inflammation of the large intestine, Monocytosis... |
OMIM:619281 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Decreased prealbumin level, Eczema, Ne... |
ORPHA:37042 |
Selective Igm Deficiency |
|
Autoimmunity, Non-infectious meningitis, Neutropenia in presence of anti-neutropil antibodies, Ly... |
ORPHA:331235 |
Lymphoproliferative Syndrome 3 |
|
Lymphadenopathy, Decreased circulating antibody level, Reduced natural killer cell count, Hepatos... |
OMIM:618261 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy, Decreased circulating IgA level, Decreased circulating IgG level, Epididymitis, ... |
OMIM:608106 |
Trimethylaminuria |
|
Neutropenia, Anemia, Splenomegaly, Recurrent pneumonia, Trimethylaminuria |
OMIM:602079 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia |
ORPHA:231393 |
Boutonneuse Fever |
|
Leukopenia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgM level, Ma... |
ORPHA:83313 |
Thymoma |
|
Autoimmunity, Imbalanced hemoglobin synthesis, Abnormal lymphocyte proliferation, Anti-acetylchol... |
ORPHA:99867 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
B lymphocytopenia, Neutropenia, Leukopenia, Bronchiectasis, Lymphadenitis, Partial absence of spe... |
OMIM:618986 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly |
OMIM:619175 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Hyperlipoproteinemia, Splenomegaly |
OMIM:118830 |
Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ... |
OMIM:613493 |
Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:256020 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Lymphadenopathy, Rheumatoid factor positive, Splenomegaly, Microcytic anemia, Recur... |
OMIM:618852 |
Immunodeficiency 36 |
|
Chronic lymphatic leukemia, Autoimmunity, Bronchiectasis, Decreased circulating antibody level, S... |
OMIM:616005 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Discoid lupus rash, Chronic myelomonocytic leukemia, System... |
ORPHA:90280 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Inflammation of the large intestine, Folliculitis, Colitis, Hepatitis, Acne, Decrea... |
OMIM:300635 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Autoimmunity, Interstitial pneumonitis, Neutropenia in presence of anti-neutro... |
ORPHA:231154 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
Immunodeficiency 70 |
|
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... |
OMIM:618969 |
Igg4-Related Aortitis |
|
Autoimmunity, Hydronephrosis, Increased circulating IgG4 level, Cytoplasmic antineutrophil antibo... |
ORPHA:449400 |
Simple Cryoglobulinemia |
|
Chronic lymphatic leukemia, Pericarditis, Monoclonal elevation of circulating IgA, Nephrotic synd... |
ORPHA:91139 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity |
OMIM:617796 |
Igg4-Related Kidney Disease |
|
Tubulointerstitial nephritis, Lymphadenopathy, Antinuclear antibody positivity, Rheumatoid factor... |
ORPHA:449395 |
Schnitzler Syndrome |
|
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Arthritis, Splenomegaly, Increased circulati... |
ORPHA:37748 |
Cernunnos-Xlf Deficiency |
|
B lymphocytopenia, Autoimmunity, Decreased circulating antibody level, Anemia, Lymphopenia, Throm... |
ORPHA:169079 |
Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Increased circulating ferritin concentration,... |
OMIM:618963 |
Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
Nephrotic Syndrome, Type 15 |
|
Minimal change glomerulonephritis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbumi... |
OMIM:617609 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Nephrotic syndrome, Abnormal circulating lipid concentration, Hematuria, Decreased serum compleme... |
OMIM:608709 |
C3 Glomerulopathy 3 |
|
Hematuria, Renal insufficiency, Stage 5 chronic kidney disease, Glomerulonephritis |
OMIM:614809 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Colitis, Hyperlipoproteinemia, Splenomegaly |
OMIM:615947 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Neutropenia, Stomatitis, Chronic hepatitis, Sclerosing cholangitis, Decreased circu... |
OMIM:308230 |
Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Decreased circulating IgG level, Lymphopenia, Neonatal hypoproteinemia |
OMIM:152800 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, B lymphocytopenia, Hepatomegaly, Pneumonia, Decreased circulating IgA level, Reduced r... |
OMIM:102700 |
Immunodeficiency, Common Variable, 11 |
|
Decreased proportion of class-switched memory B cells, Inflammation of the large intestine, Decre... |
OMIM:615767 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased specifi... |
OMIM:617765 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Aicardi-Goutieres Syndrome 7 |
|
Atopic dermatitis, Hepatomegaly, Nephrotic syndrome, Splenomegaly, Increased circulating antibody... |
OMIM:615846 |
Cystic Echinococcosis |
|
Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Abscess, Hepatic cysts... |
ORPHA:400 |
Immunodeficiency 23 |
|
Eczema, Allergic rhinitis, Neutropenia, Bronchiectasis, Abscess, Increased circulating IgG level,... |
OMIM:615816 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity, Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Granulocy... |
OMIM:608898 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy, Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig cl... |
OMIM:605258 |
Immunodeficiency 85 And Autoimmunity |
|
Eczema, Erythroderma, Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG ... |
OMIM:619510 |
Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... |
OMIM:619374 |
X-Linked Lymphoproliferative Disease |
|
Myocarditis, Autoimmunity, Inflammation of the large intestine, Lymphadenopathy, Decreased circul... |
ORPHA:2442 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Abnormal platelet function, Acute myelomonocytic leukemia, Decreased circulat... |
ORPHA:2585 |
Kimura Disease |
|
Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia |
ORPHA:482 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Autoimmunity, Abnormal lymphocyte morphology |
OMIM:609529 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly |
OMIM:615593 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk |
OMIM:616657 |
Schimke Immuno-Osseous Dysplasia |
|
Decreased proportion of naive CD8 T cells, Focal segmental glomerulosclerosis, Autoimmunity, Neut... |
ORPHA:1830 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Conjunctivitis, Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Increased circu... |
OMIM:603552 |
Lysinuric Protein Intolerance |
|
Tubulointerstitial nephritis, Oroticaciduria, Decreased glomerular filtration rate, Decreased cir... |
ORPHA:470 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Autoimmunity, Decreased circulating IgA level, Chronic oral candidiasis, Decreased circulating Ig... |
ORPHA:275 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly, Dysgammaglobulinemia, Hypocalcemia |
ORPHA:100025 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Abnormality of the intrahepatic bile duct, Inflammation of the large intestine, Interlobular bile... |
ORPHA:562639 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, B... |
OMIM:607616 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... |
OMIM:202700 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, Pneumonia, T lymphocytopenia, Atopic dermat... |
OMIM:618806 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity |
OMIM:615493 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Lymphadenopathy, Abscess,... |
OMIM:150550 |
Immunodeficiency 92 |
|
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... |
OMIM:619652 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... |
OMIM:133180 |
Galactosemia Iii |
|
Hepatomegaly, Hypergalactosemia, Splenomegaly, Aminoaciduria, Galactosuria, Jaundice |
OMIM:230350 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... |
ORPHA:567548 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Decreased circulating antibody level, Lymphopenia, Splenomegaly |
OMIM:605309 |
Brucellosis |
|
Myocarditis, Lymphadenopathy, Knee osteoarthritis, Rheumatoid factor positive, Septic arthritis, ... |
ORPHA:1304 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Nephrotic syndrome, Hematuria, Decreased serum complement C3, Membranoproliferative glomeruloneph... |
OMIM:613913 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Jaundice, Reticulocytosis,... |
OMIM:237800 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Ascites, Lymphadenopathy, Decreased circulating antibody level, EBV encephalitis, D... |
OMIM:615122 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly, Cholestasis, Skin rash, Nephropathy, P... |
OMIM:105200 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
Leishmaniasis |
|
Hepatomegaly, Leukopenia, Lymphadenopathy, Rhinitis, Anemia, Splenomegaly, Abnormal macrophage mo... |
ORPHA:507 |
Macrophage Activation Syndrome |
|
Autoimmunity, Neutropenia, Lymphadenopathy, Hepatitis, Splenomegaly, Increased circulating ferrit... |
ORPHA:158061 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Arthritis, Mesangial hypercellularity, Crescentic glomerulonephritis, Elevated circulating C-reac... |
OMIM:616414 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... |
ORPHA:656 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity |
ORPHA:356996 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Eczema, Nephrotic syndrome, Lymphadenopathy, Lymphadenitis, Abscess, Rheumatoid factor positive, ... |
OMIM:618935 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Thrombocytopenia, Increased circulating antibody level, Skin rash |
OMIM:618048 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Pustule, Lack of T... |
ORPHA:35078 |
Mast Cell Sarcoma |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis |
ORPHA:66661 |
Thrombocythemia 1 |
|
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced plat... |
OMIM:187950 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:607685 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia, Bronchiectasis |
OMIM:193670 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Aminoaciduria, Splenomegaly |
ORPHA:417 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
Multiple Myeloma |
|
Hyperproteinemia, Hypercalcemia, Nephrotic syndrome, Lymphadenopathy, Increased circulating IgA l... |
ORPHA:29073 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eczema, Inflammation of the large int... |
OMIM:301000 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, B lymphocytopenia, Eczema, Psoriasiform dermatitis, Erythroderma, Lymphadenopat... |
OMIM:606367 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Hyperbilirubinemia, Splenomegaly |
OMIM:179700 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG, Antinuclear antibody positivity |
OMIM:613495 |
Felty Syndrome |
|
Rheumatoid arthritis, Neutropenia, Splenomegaly |
OMIM:134750 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia |
OMIM:614480 |
Galactose Epimerase Deficiency |
|
Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly |
ORPHA:79238 |
Agammaglobulinemia 8, Autosomal Dominant |
|
B lymphocytopenia, Agammaglobulinemia, Recurrent otitis media |
OMIM:616941 |
Igg4-Related Retroperitoneal Fibrosis |
|
Anti-thyroid peroxidase antibody positivity, Rheumatoid factor positive, Ureteropelvic junction o... |
ORPHA:49041 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Lymphadenopathy, Splenomegaly, Uveitis, Decreased circulatin... |
OMIM:614700 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Hypospadias, Hepatomegaly, Ascites, Decreased circulating antibody level, Micronodular cirrhosis,... |
OMIM:301045 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Leukocytosis, Lymphadenopathy, Arthritis, Splenomegaly, Skin rash, Recurrent aphthous stomatitis,... |
OMIM:611762 |
Immunodeficiency 37 |
|
Decreased circulating antibody level, Infectious encephalitis, Colitis, Decreased proportion of c... |
OMIM:616098 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Autoimmunity, Neutropenia, Lack of T cell function, Neutropenia in presence of anti-ne... |
ORPHA:572 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Autoimmunity, Prostatitis, Lymphadenopathy, Retroperitoneal fibrosis, Increased circ... |
ORPHA:449432 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, A... |
OMIM:613673 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, Pneumonia, Arthritis, Otitis media, Panhypogammaglobulinemia, T lymphocytopeni... |
OMIM:601457 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Atopic dermatitis, B lymphocytopenia, Pneumonia, Chronic otitis media, Increased circulating IgE ... |
ORPHA:217390 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... |
ORPHA:766 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Splenomegaly |
OMIM:618541 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Skin rash, Maculopapu... |
ORPHA:98848 |
Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nep... |
OMIM:616730 |
Tularemia |
|
Brain abscess, Leukocytosis, Mediastinal lymphadenopathy, Pneumonia, Lymphadenopathy, Anemia, Abn... |
ORPHA:3392 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Hemochromatosis, Type 2B |
|
Increased serum iron, Hepatomegaly, Hepatic fibrosis, Anemia, Elevated transferrin saturation, Sp... |
OMIM:613313 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Leukocytosis, Increased circulating IgG level |
ORPHA:206594 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Chronic kidney disease, Glomerulonephritis |
ORPHA:2172 |
Pauci-Immune Glomerulonephritis |
|
Macroscopic hematuria, Tubulointerstitial nephritis, Antinuclear antibody positivity, Elevated ci... |
ORPHA:93126 |
Autoinflammation With Infantile Enterocolitis |
|
Enterocolitis, Reduced natural killer cell activity, Anemia, Splenomegaly, Reduced natural killer... |
OMIM:616050 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the lymph nodes, Abnormality of the pancreas, Abnormali... |
ORPHA:543 |
Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Hypouricemia, Pneumonia, Neutropenia in presence of anti-neutropil antibodies, Lymph n... |
OMIM:613179 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Po... |
OMIM:615234 |
Marfanoid Habitus With Microcephaly And Glomerulonephritis |
|
Glomerulonephritis, Renal insufficiency |
OMIM:248760 |
Primary Sjögren Syndrome |
|
Tubulointerstitial nephritis, Lymphadenopathy, Normochromic anemia, Decreased circulating antibod... |
ORPHA:289390 |
Tempi Syndrome |
|
Ascites, Polycythemia, Increased circulating IgG level, Increased hematocrit, Abnormality of the ... |
ORPHA:284227 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Autoimmunity, Panniculitis, Anemia, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:618398 |
Immunodeficiency 13 |
|
B lymphocytopenia, Bronchiectasis, Recurrent otitis media, Decreased proportion of CD4-positive h... |
OMIM:615518 |
Immunodeficiency 32B |
|
Sinusitis, Bronchiectasis, Pneumonia, Splenomegaly |
OMIM:226990 |
Bacterial Toxic-Shock Syndrome |
|
Sinusitis, Myocarditis, Fasciitis, Hepatitis, Septic arthritis, Increased circulating myelocyte c... |
ORPHA:36234 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Abnormal lymphatic vessel morphology, Ascites, Decreased circulating IgA level, ... |
ORPHA:90362 |
Reticular Dysgenesis |
|
Lack of T cell function, Impaired T cell function |
OMIM:267500 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... |
ORPHA:75564 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Minimal change glomerulonephritis, Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidn... |
OMIM:301006 |
Cirrhosis, Familial |
|
Cirrhosis, Chronic active hepatitis, Increased circulating antibody level, Hepatitis |
OMIM:118900 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Sinusitis, Hepatomegaly, Myositis, Lymphadenopathy, Panniculitis, Anemia, Arthritis, Splenomegaly... |
OMIM:617591 |
Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Harderoporphyria |
|
Hepatomegaly, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Increased urine harderopo... |
OMIM:618892 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Renal hypoplasia, Chronic tubulointerstitial nephritis, Elevated circulating creati... |
OMIM:614376 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy, Increased circulatin... |
OMIM:617099 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Nephroblastoma, Hepatocellular carcinoma, Abnormal ren... |
ORPHA:158057 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Lymphatic Filariasis |
|
Lymphangiectasis, Nephrotic syndrome, Lymphadenopathy, Lymphadenitis, Abnormality of the lymphati... |
ORPHA:2035 |
Complement Factor I Deficiency |
|
Sinusitis, Decreased serum complement factor H, Recurrent otitis media, Pyelonephritis, Arthritis... |
OMIM:610984 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Autoimmunity, Systemic lupus erythematosus, Autoimmune antibody positivity,... |
ORPHA:411593 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypocholesterolemia, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia |
OMIM:610539 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Cold Agglutinin Disease |
|
Hepatomegaly, Autoimmunity, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia |
ORPHA:56425 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Thrombocytosis, Macrocytic anemia, Eczema, Autoimmunity, Megaloblastic anemia, Decreased circulat... |
OMIM:617780 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Insulin-Resistance Syndrome Type B |
|
Autoimmunity, Enlarged ovaries, Hypotriglyceridemia, Enlarged polycystic ovaries, Skin rash, Hypo... |
ORPHA:2298 |
Postinfectious Vasculitis |
|
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Inflammatory a... |
ORPHA:48435 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Combined Saposin Deficiency |
|
Hepatomegaly, Splenomegaly |
OMIM:611721 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Autoimmunity, Pericarditis, Lymphadenopathy, Splenomegaly, Anterior uveitis, Juveni... |
ORPHA:85414 |
Autoimmune Hemolytic Anemia |
|
Autoimmunity, Splenomegaly, Abnormal urinary color, Hemolytic anemia, Abnormal leukocyte morphology |
ORPHA:98375 |
Adult Idiopathic Neutropenia |
|
Neutropenia, Monocytosis, Increased circulating IgM level, Lymphopenia, Monocytopenia, Recurrent ... |
ORPHA:2688 |
Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmunity, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly... |
ORPHA:100026 |
Sandhoff Disease |
|
Hepatomegaly, Splenomegaly |
ORPHA:796 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Decreased circulating ant... |
OMIM:618108 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Eczema, Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Skin rash |
ORPHA:2584 |
Prolidase Deficiency |
|
Hepatomegaly, Eczema, Systemic lupus erythematosus, Anemia, Splenomegaly, Crusting erythematous d... |
OMIM:170100 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Cutaneous anergy, Recurren... |
OMIM:600802 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... |
OMIM:612840 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity |
OMIM:618090 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli... |
OMIM:121300 |
Galloway-Mowat Syndrome 7 |
|
Renal tubular atrophy, Eczema, Focal segmental glomerulosclerosis, Minimal change glomerulonephri... |
OMIM:618348 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Hepatoportal Sclerosis |
|
Leukopenia, Hepatocellular carcinoma, Ascites, Anticardiolipin IgM antibody positivity, Anticardi... |
ORPHA:64743 |
Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... |
ORPHA:846 |
Nephronophthisis 19 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Nephronophthisis, Stage 5 chronic kidney... |
OMIM:616217 |
Felty Syndrome |
|
Sinusitis, Hepatomegaly, Autoimmunity, Neutropenia, Pericarditis, Episcleritis, Synovitis, Lympha... |
ORPHA:47612 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Complete o... |
OMIM:613494 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity |
OMIM:608747 |
Membranoproliferative Glomerulonephritis, X-Linked |
|
Membranoproliferative glomerulonephritis |
OMIM:305800 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Neutropenia, Lymphadenopathy, Abnormal renal physiology, Decreased circulating antibody level, Sp... |
ORPHA:540 |
Q Fever |
|
Myocarditis, Lymphadenopathy, Hepatitis, Rheumatoid factor positive, Splenomegaly, Hepatosplenome... |
ORPHA:781 |
Omenn Syndrome |
|
B lymphocytopenia, Hepatomegaly, Hypoproteinemia, Erythroderma, Pneumonia, Lymphadenopathy, Hypop... |
OMIM:603554 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, Neonatal ch... |
OMIM:214900 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Anemia, Splenomegaly |
ORPHA:75563 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Sp... |
OMIM:616860 |
Omenn Syndrome |
|
Leukocytosis, Hepatomegaly, Autoimmunity, Erythroderma, Nephrotic syndrome, Pneumonia, Lymphadeno... |
ORPHA:39041 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Hyperammonemia, Cirrhosis, Splen... |
OMIM:271500 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Sézary Syndrome |
|
Hepatomegaly, Erythroderma, Lymphadenopathy, Abnormal immunoglobulin level, Abnormal lymphocyte m... |
ORPHA:3162 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Cholestasis, Hypocalcemia, Jaundice |
ORPHA:172 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Splenomegaly, Elevated circulating gamma-aminobutyric acid concentration, Chole... |
OMIM:619658 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM |
ORPHA:2643 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Hyperbilirubinemia, Sple... |
OMIM:616278 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Pustule, Myositis, Lymphadenopathy, Acne, Arthritis, Increased inflammatory response, Crohn's dis... |
ORPHA:69126 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypospadias, Abnormality of the ureter, Ascites, Anemia, Splenomegaly, Renal hypoplasia/aplasia, ... |
ORPHA:1046 |
Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Glomerulonephriti... |
OMIM:104200 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Chronic lymphatic leukemia, Autoimmunity, Systemic lupus erythematosus, Splenomegaly, Autoimmune ... |
ORPHA:90033 |
Poikiloderma With Neutropenia |
|
Neutropenia, Elevated circulating creatine kinase concentration, Recurrent otitis media, Splenome... |
OMIM:604173 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Ascites, Nephrotic syndrome, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly, Co... |
OMIM:269920 |
Pulmonary Nodular Lymphoid Hyperplasia, Familial |
|
IgA deposition in the glomerulus, Systemic lupus erythematosus, Increased circulating antibody le... |
OMIM:178610 |
Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
Pfapa Syndrome |
|
Hepatomegaly, Infectious encephalitis, Lymphadenopathy, Arthritis, Splenomegaly |
ORPHA:42642 |
Babesiosis |
|
Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Renal insufficiency, ... |
ORPHA:108 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Horseshoe kidney, Decreased circulating IgG level, Decreased circulating antibody l... |
ORPHA:508533 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Thrombocytopenia, Blepharitis, Sea-blue ... |
ORPHA:158029 |
Hyper-Igd Syndrome |
|
Leukocytosis, Lymphadenopathy, Lymphadenitis, Chronic oral candidiasis, Increased circulating IgA... |
OMIM:260920 |
Hemochromatosis, Type 2A |
|
Increased serum iron, Hepatomegaly, Arthritis, Splenomegaly, Cirrhosis, Increased circulating fer... |
OMIM:602390 |
Griscelli Syndrome |
|
Hepatomegaly, Leukopenia, Ascites, Lymphadenopathy, Abnormal circulating lipid concentration, Hep... |
ORPHA:381 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Increased LDL cholesterol concentration, Elevated circulating creatine kinase conce... |
OMIM:616828 |
Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Leukopenia, Ascites, Biliary tract obstruction, Hematuria, Anemia, Splenomegaly, Ci... |
ORPHA:77259 |
Immunodeficiency 22 |
|
Autoimmunity, Panniculitis, Decreased proportion of CD4-positive helper T cells |
OMIM:615758 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Prolonged neonatal jaundice, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, R... |
OMIM:224120 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Macroscopic hematuria, Hypercalcemia, Episodic hemolytic anemia, Increased blood urea nitrogen, M... |
ORPHA:251004 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM |
OMIM:251190 |
Spondylometaphyseal Dysplasia, Axial |
|
Recurrent pneumonia, Splenomegaly |
OMIM:602271 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Pigment gallstones, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... |
OMIM:613470 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Chronic otitis media, Bone marrow hy... |
ORPHA:3226 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormal... |
ORPHA:79301 |
Dysplastic Cortical Hyperostosis |
|
Abnormality of the urinary system, Hepatomegaly, Splenomegaly |
ORPHA:2204 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
Neurodegeneration, Infantile-Onset, Biotin-Responsive |
|
Decreased circulating IgG level |
OMIM:618973 |
Adult-Onset Still Disease |
|
Myocarditis, Leukocytosis, Hepatomegaly, Pericarditis, Abnormal circulating lipid concentration, ... |
ORPHA:829 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormal T cell morphology, Eczematoid dermatitis, Pyoderma, Bronchiectasis, Aplasia of the thymu... |
OMIM:242700 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly |
OMIM:616719 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Hemoglobinuria, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Decre... |
OMIM:300908 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myelomonocytic leukemia, Bone marrow hypocellularity, Splenomegaly, Acute myeloid leukemia,... |
ORPHA:86843 |
Osteopetrosis, Autosomal Recessive 8 |
|
Thrombocytopenia, Anemia, Hepatomegaly, Splenomegaly |
OMIM:615085 |
Ataxia-Telangiectasia |
|
Sinusitis, Bronchiectasis, Leukemia, Decreased circulating IgA level, Hypoplasia of the thymus, D... |
OMIM:208900 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosplenomegaly, Hypertri... |
OMIM:612526 |
Ornithine Transcarbamylase Deficiency |
|
Hyperammonemia, Aminoaciduria, Splenomegaly |
ORPHA:664 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoproteinemia, Decreased circulating IgG level, Neutropenia, Hypoalbuminemia |
OMIM:600351 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Hemolytic-uremic syndrome, Impaired platelet aggregation, Conjunctivitis, Leukocytosis... |
ORPHA:2968 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Hyperammonemia, Splenomegaly, Thrombocytopenia, ... |
ORPHA:79312 |
Follicular Lymphoma |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Splenomegaly |
ORPHA:545 |
Cryoglobulinemic Vasculitis |
|
Keratoconjunctivitis sicca, Hepatomegaly, Mediastinal lymphadenopathy, Cryoglobulinemia, Hematuri... |
ORPHA:91138 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia |
OMIM:610333 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly |
ORPHA:90037 |
Inflammatory Pseudotumor Of The Liver |
|
Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Autoimmune antibody positivity, Incr... |
ORPHA:90003 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
Aminoacylase 1 Deficiency |
|
Hyperactivity |
OMIM:609924 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Leukocytosis, Decreased urine output, Tubulointerstitial nephritis, Increased circu... |
ORPHA:340 |
Angiostrongyliasis |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... |
ORPHA:74 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Acholic stools, Hyperlipidemia, Biliary tract abnormality, Abnormality of urine hom... |
ORPHA:1414 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormality of iron homeostasis, Hepatitis, Anemia, Abnormal hemoglobin, Cholelithi... |
ORPHA:848 |
Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Pustule, Myositis, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Common Variable Immunodeficiency |
|
Pneumonia, Bronchiectasis, Lymphadenopathy, Chronic otitis media, Decreased circulating antibody ... |
ORPHA:1572 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity |
OMIM:607624 |
Immunodeficiency 54 |
|
Lymphadenopathy, Reduced natural killer cell count, Hepatomegaly, Splenomegaly |
OMIM:609981 |
Immunodeficiency 47 |
|
Hepatomegaly, Normocytic anemia, Hepatic fibrosis, Leukopenia, Decreased circulating total IgA, D... |
OMIM:300972 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Lymphadenitis, Nephritis, Increased circulating IgG4 level, Pancreatitis, Parotitis, C... |
ORPHA:449427 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Splenomegaly |
OMIM:608540 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Eczema, Bronchiectasis, Recurrent otitis media, Keratitis, Increased circulating IgE level, Eosin... |
OMIM:618523 |
Coccidioidomycosis |
|
Lymphadenopathy, Eosinophilia, Morbilliform rash, Abnormality of the bladder, Pericarditis, Folli... |
ORPHA:228123 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, Decreased circulating IgA level, Reduced natural killer cel... |
OMIM:242860 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Pulmonary lymphangiectasia, Abnormal renal glomerulus morphology, Membranoproliferative glomerulo... |
OMIM:137940 |
Gaucher Disease Type 2 |
|
Hepatomegaly, Splenomegaly |
ORPHA:77260 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Jaundice |
ORPHA:75234 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbiliru... |
OMIM:616689 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Leukocytosis, Thrombocytosis, Defective T cell proliferation, Increased circulating IgG level, Hy... |
OMIM:618213 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Neutropenia, Methylmalonic aciduria, Decreased circulating IgA level, Decrease... |
OMIM:275350 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Nonsphe... |
OMIM:235700 |
Sitosterolemia 1 |
|
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Arthrit... |
OMIM:210250 |
Neuraminidase Deficiency |
|
Hepatomegaly, Ascites, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomegaly, Urinary excr... |
OMIM:256550 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Nephrotic syndrome, Glomerular sclerosis, Glomerulonephritis, Proteinuria |
OMIM:619428 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Keratoconjunctivitis sicca, Autoimmunity, Tubulointerstitial nephritis, Myositis, Lymphadenopathy... |
ORPHA:79078 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Sinusitis, Eczema, Inflammation... |
OMIM:600903 |
Erythrocytosis, Familial, 8 |
|
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... |
OMIM:222800 |
Immunodeficiency 68 |
|
B lymphocytopenia, Lymphadenitis, Abscess, Septic arthritis, Recurrent skin infections, T lymphoc... |
OMIM:612260 |
Igg4-Related Thyroid Disease |
|
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Retroperitoneal fibrosis, Increased ci... |
ORPHA:64744 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Neutropenia, Hyperlipidemia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophago... |
ORPHA:79477 |
Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Neutropenia, Leukopenia,... |
OMIM:617303 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Increased circulating IgE level, Recurr... |
OMIM:147060 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Cholangitis, Autoimmunity, Decreased specific pneumococcal antibody level, Decreased circulating ... |
ORPHA:183675 |
Actinic Prurigo |
|
Cheilitis, Glomerulonephritis, Pyoderma |
OMIM:174770 |
Juvenile Huntington Disease |
|
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based gait, G... |
ORPHA:248111 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
Aregenerative Anemia |
|
Neutropenia, Abnormal proportion of CD8-positive T cells, Lymphadenopathy, Abnormality of interle... |
ORPHA:101096 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia |
OMIM:611490 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Atopic dermatitis, Leukocytosis, Autoimmunity, Increased circulating IgE level, Hypereosinophilia... |
ORPHA:2902 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Dystonia, Ataxia |
OMIM:615924 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Leukocytosis, Hepatomegaly, Abnormal inflammatory response,... |
ORPHA:77297 |
Hereditary Orotic Aciduria |
|
Abnormality of the ureter, Oroticaciduria, Impaired T cell function, Anemia, Orotic acid crystall... |
ORPHA:30 |
Gaucher Disease, Type Iii |
|
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:231000 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Autoimmunity, Episcleritis, Ascites, Lymphadenopathy, Hematuria, Arthritis, Splenom... |
ORPHA:36412 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Transient neutropenia, Liver abscess |
OMIM:607676 |
Spherocytosis, Type 5 |
|
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612690 |
Legionnaires Disease |
|
Myocarditis, Hyponatremia, Pericarditis, Infectious encephalitis, Endocarditis, Lymphadenopathy, ... |
ORPHA:549 |
Purine Nucleoside Phosphorylase Deficiency |
|
Abnormal T cell morphology, Hypouricemia, Autoimmunity, Decreased urinary urate, Systemic lupus e... |
ORPHA:760 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Hypoproteinemia, Infectious encephalitis, Leukopenia, Lymphadenopathy... |
OMIM:603553 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Skin rash |
ORPHA:391 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity |
ORPHA:85288 |
Spherocytosis, Type 4 |
|
Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612653 |
Hurler-Scheie Syndrome |
|
Rhinitis, Hepatomegaly, Abnormality of the tonsils, Splenomegaly |
ORPHA:93476 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Macroscopic hematuria, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Asc... |
ORPHA:567546 |
Sickle Cell Anemia |
|
Leukocytosis, Hepatomegaly, Hematuria, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red ... |
OMIM:603903 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly |
OMIM:314050 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Abnormality of the liver, Mala... |
ORPHA:398124 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Impaired T cell function, Splenomegaly |
OMIM:201100 |
Refractory Celiac Disease |
|
Inflammatory abnormality of the skin, Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Iron... |
ORPHA:398063 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia |
OMIM:239500 |
Farber Lipogranulomatosis |
|
Hepatomegaly, Lipogranulomatosis, Arthritis, Splenomegaly |
OMIM:228000 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Recurrent aspiration pneumonia, Anemia, Splenomegaly, Thrombocytopenia |
OMIM:230900 |
Primary Myelofibrosis |
|
Leukocytosis, Thrombocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... |
ORPHA:824 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Hemolytic anemia... |
OMIM:185000 |
Iga Pemphigus |
|
Pustule, Increased circulating IgA level, Neutrophilic infiltration of the skin, Autoimmune antib... |
ORPHA:555905 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity |
OMIM:619031 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity |
OMIM:604317 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Increased red cell hemolysis by shear stress, Hemoglobinuria, Hepatitis, Cholelithi... |
OMIM:194380 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hyperproteinemia, Hepatomegaly, Abnormal inflammatory response, Neutropenia, Abnormal cytokine si... |
ORPHA:158048 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Nephrocalcinosis, Decreased cir... |
OMIM:616084 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Hepatomegaly, Abnormality of iron homeostasis, Erythroid hyperplasia, Elevated hepa... |
ORPHA:231222 |
Autoimmune Polyendocrinopathy Type 4 |
|
Keratoconjunctivitis sicca, Macrocytic anemia, Autoimmunity, Tubulointerstitial nephritis, Leukop... |
ORPHA:227990 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemi... |
OMIM:182900 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Allergic rhinitis, Anemia, Splenomegaly, Jaundice, Skin rash, Exocrine pancreatic i... |
OMIM:612714 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Unconjugated hyperbilirubinemia, Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecys... |
OMIM:266200 |
Sialidosis Type 2 |
|
Hepatomegaly, Nephropathy, Ascites, Splenomegaly |
ORPHA:87876 |
Spherocytosis, Type 2 |
|
Acanthocytosis, Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemi... |
OMIM:616649 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly |
OMIM:617441 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Eczema, Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Hepatosplenomegaly, ... |
OMIM:615688 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Myositis, Lymphadenopathy, Panniculitis, Splenomegaly, Autoimmune hemolytic anemia |
OMIM:619183 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Splenomeg... |
OMIM:263200 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Hepatocellular carcinoma, Ascites, Nodular regenerative hyperplasia of liver, Splen... |
OMIM:619463 |
Fish-Eye Disease |
|
Lymphadenopathy, Hepatomegaly, Decreased HDL cholesterol concentration, Splenomegaly |
ORPHA:79292 |
Mevalonic Aciduria |
|
Splenomegaly |
ORPHA:29 |
Systemic Sclerosis |
|
Myocarditis, Pericarditis, Elevated circulating creatine kinase concentration, Antinuclear antibo... |
ORPHA:90291 |
Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:185020 |
Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Autoimmunity, Panniculitis, Splenomegaly, Inflammatory abnormality of the eye |
ORPHA:33577 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Eczematoid dermatitis, Lymphadenopathy, Lymphadenitis, Discoid lupus rash, Splenome... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Eczematoid dermatitis, Lymphadenopathy, Lymphadenitis, Discoid lupus rash, Splenome... |
OMIM:233710 |
Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Lymphadenopathy, Splenomegaly, Parotitis, Acute pancreatitis, Pancytopenia, Morbilli... |
ORPHA:99827 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Increased hepatic echogenicity, Hepatic fi... |
OMIM:278000 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Eczema, Inflammation of the large intestine, Neutropenia, Decreased circulating IgG level, Chroni... |
OMIM:608809 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Lymphadenopathy, Increased circulating interleukin 8, Splenomegaly, Parotitis, Elevated circulati... |
OMIM:256040 |
Muckle-Wells Syndrome |
|
Hepatomegaly, Episcleritis, Nephrotic syndrome, Anemia, Arthritis, Splenomegaly, Uveitis, Skin ra... |
ORPHA:575 |
Thymic Aplasia |
|
Sinusitis, Eczematoid dermatitis, Autoimmunity, Decreased proportion of naive T cells, Hypocalcem... |
ORPHA:83471 |
Glycine Encephalopathy |
|
Hyperactivity, Lethargy |
OMIM:605899 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Osteopetrosis, Autosomal Dominant 3 |
|
Hepatomegaly, Anemia, Splenomegaly |
OMIM:618107 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Neutropenia, Enlarged platelet dense granules, Chronic oral candidiasis, Absent pla... |
OMIM:608233 |
Rift Valley Fever |
|
Infectious encephalitis, Hematuria, Hepatitis, Anemia, Increased circulating IgG level, Uveitis, ... |
ORPHA:319251 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Inflammation of the large intestine, Impaired T cell function, Elevated circulating... |
OMIM:614576 |
Mevalonic Aciduria |
|
Fluctuating splenomegaly, Leukocytosis, Increased circulating IgD level, Normocytic hypoplastic a... |
OMIM:610377 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Biliary cirrhosis, Portal hypertension, Scler... |
OMIM:617394 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity |
OMIM:248510 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Hypocalcemic seizures, Decreased circulating IgA level, Decreased circulating IgG l... |
OMIM:612301 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypoproteinemia, Infectious ... |
OMIM:267700 |
Morm Syndrome |
|
Hyperactivity |
ORPHA:75858 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Eczematoid dermatitis, Lymphadenopathy, Lymphadenitis, Discoid lupus rash, Splenome... |
OMIM:306400 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Eczematoid dermatitis, Lymphadenopathy, Lymphadenitis, Discoid lupus rash, Splenome... |
OMIM:233690 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Prostatitis, Lymphadenopathy, Retroperitoneal fibrosis, Increased circula... |
ORPHA:449563 |
Cinca Syndrome |
|
Leukocytosis, Hepatomegaly, Lymphadenopathy, Retrobulbar optic neuritis, Anemia, Abnormal granulo... |
ORPHA:1451 |
Vici Syndrome |
|
Cutaneous anergy, Decreased circulating IgG level, Chronic mucocutaneous candidiasis, Left ventri... |
OMIM:242840 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Splenomegaly |
ORPHA:66518 |
Immunodeficiency, Common Variable, 10 |
|
Anti-thyroid peroxidase antibody positivity, Psoriasiform dermatitis, Decreased circulating IgA l... |
OMIM:615577 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Autoimmunity, Pneumonia, Lymphadenopathy, Chronic otitis media, Splenomegaly, Throm... |
ORPHA:169090 |
Autoimmune Polyendocrinopathy Type 3 |
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Keratoconjunctivitis sicca, Macrocytic anemia, Autoimmunity, Tubulointerstitial nephritis, Leukop... |
ORPHA:227982 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
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B lymphocytopenia, Psoriasiform dermatitis, Recurrent aspiration pneumonia, Decreased circulating... |
ORPHA:221139 |
Immunoneurologic Disorder, X-Linked |
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Functional abnormality of the bladder, Decreased circulating IgG2 level |
OMIM:300076 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Reduced hematocrit, Tubulointerstitial nephritis, Normochromic anemia, Decreased glomerular filtr... |
ORPHA:91500 |
O'Sullivan-Mcleod Syndrome |
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Eosinophilia, Increased circulating antibody level |
ORPHA:99965 |
Wolman Disease |
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Hepatomegaly, Ascites, Bone-marrow foam cells, Anemia, Splenomegaly |
ORPHA:75233 |
Juvenile Idiopathic Arthritis |
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Hepatomegaly, Psoriasiform dermatitis, Autoimmunity, Mediastinal lymphadenopathy, Arthritis, Sple... |
ORPHA:92 |
Ige Responsiveness, Atopic |
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Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
American Trypanosomiasis |
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Myocarditis, Hepatomegaly, Infectious encephalitis, Lymphadenopathy, Splenomegaly, Autoimmune ant... |
ORPHA:3386 |
Osteopetrosis, Autosomal Recessive 5 |
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Hepatomegaly, Ascites, Anemia, Decreased osteoclast count, Hyperbilirubinemia, Splenomegaly, Abse... |
OMIM:259720 |
Mixed Connective Tissue Disease |
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Myocarditis, Hepatomegaly, Keratoconjunctivitis sicca, Autoimmunity, Mediastinal lymphadenopathy,... |
ORPHA:809 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
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Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice |
ORPHA:59303 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
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Hyperkalemia, Hepatomegaly, Splenomegaly, Hemolytic anemia, Jaundice |
OMIM:608885 |
Ebola Hemorrhagic Fever |
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Leukopenia, Hepatitis, Increased circulating antibody level, Acute pancreatitis, Lymphopenia, Mac... |
ORPHA:319218 |
Roifman Syndrome |
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Hepatomegaly, Eczema, Lymphadenopathy, Recurrent otitis media, Splenomegaly, Recurrent pneumonia,... |
OMIM:616651 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
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Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Intrahepatic cho... |
OMIM:602347 |
Netherton Syndrome |
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Allergic rhinitis, Erythroderma, Decreased circulating IgG level, Increased circulating IgE level... |
OMIM:256500 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Hepatomegaly, Hydronephrosis, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Ane... |
OMIM:612541 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Hyperactivity, Lethargy |
OMIM:274270 |
Dehydrated Hereditary Stomatocytosis |
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Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Immunodeficiency 82 With Systemic Inflammation |
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Hypernatremia, Lymphadenopathy, Hepatitis, Splenomegaly, Gastritis, Crohn's disease, Decreased ci... |
OMIM:619381 |
Tick-Borne Encephalitis |
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Leukocytosis, Abnormality of serum cytokine level, Leukopenia, Increased circulating IgG level, I... |
ORPHA:297 |
Intellectual Developmental Disorder, X-Linked 104 |
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Hyperactivity, Ataxia |
OMIM:300983 |
Gray Platelet Syndrome |
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Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla... |
OMIM:139090 |
Elliptocytosis 1 |
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Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly |
OMIM:611804 |
Glycogen Storage Disease Xii |
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Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... |
OMIM:611881 |
Congenital Rubella Syndrome |
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Hepatomegaly, Anemia, Splenomegaly, Skin rash, Thrombocytopenia, Jaundice |
ORPHA:290 |
X-Linked Immunoneurologic Disorder |
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Functional abnormality of the bladder, Decreased circulating IgG2 level |
ORPHA:2571 |
Fetal Gaucher Disease |
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