Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... |
OMIM:606843 |
Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... |
OMIM:247630 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration |
OMIM:615517 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia |
OMIM:615214 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly |
OMIM:606445 |
Immunodeficiency 50 |
|
Eczema, Decreased circulating antibody level, Neutropenia, Lymphopenia |
OMIM:300988 |
Plasma Fibronectin Deficiency |
|
Reduced circulating fibronectin level |
OMIM:614101 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy, Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig cl... |
OMIM:605258 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy, Decreased circulating IgA level, Decreased circulating IgG level, Impaired Ig cl... |
OMIM:608106 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... |
OMIM:153600 |
Neutropenia, Chronic Familial |
|
Periodontitis, Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Abnormal lymphocyte morphology |
OMIM:609529 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level, Erythroid hypoplasia |
OMIM:242880 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
Immunoglobulin M, Level Of |
|
Decreased circulating total IgM |
OMIM:308250 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... |
OMIM:618987 |
Immunodeficiency 11 |
|
Decreased circulating antibody level |
OMIM:615206 |
Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ... |
OMIM:613493 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Transcobalamin Deficiency |
|
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... |
ORPHA:859 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
OMIM:618883 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia, Recurrent otitis media |
OMIM:613501 |
Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... |
OMIM:614699 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia, Decreased circulating total IgM |
OMIM:610798 |
Caspase 8 Deficiency |
|
Eczema, Pneumonia, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG le... |
OMIM:607271 |
Immunodeficiency 24 |
|
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... |
OMIM:615897 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Pneumonia... |
OMIM:607594 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Decreased circulating antibody level, Agammaglobulinemia |
OMIM:616911 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Severe Combined Immunodeficiency, X-Linked |
|
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Pne... |
OMIM:300400 |
Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, Inflammation of the large intestine, B lymphocytopenia, Monocytosis... |
OMIM:619281 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level... |
OMIM:615285 |
Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent viral infections, Osteoporosis |
OMIM:615468 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased specifi... |
OMIM:617765 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
Hypomagnesemia 1, Intestinal |
|
Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia |
OMIM:613502 |
Immunodeficiency 14A, Autosomal Dominant |
|
Increased proportion of transitional B cells, Decreased specific pneumococcal antibody level, Dec... |
OMIM:615513 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Trypsinogen Deficiency |
|
Hypoproteinemia |
OMIM:614044 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6, Decreased proportion of class-switched memory B cells, Decre... |
OMIM:618944 |
Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia |
OMIM:615361 |
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Absent tonsils, Decreased circulating IgA level, Decreased circulating IgG level, Abnormality of ... |
OMIM:611926 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... |
OMIM:619220 |
Immunodeficiency 48 |
|
Eczematoid dermatitis, Hepatomegaly, Pneumonia, Splenomegaly, Panhypogammaglobulinemia |
OMIM:269840 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia |
OMIM:200900 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Follicular hyperplasia, Impaired T cell function, Decreased circulating IgA level, ... |
OMIM:240500 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Immunodeficiency 33 |
|
Increased circulating IgA level, Decreased circulating total IgM |
OMIM:300636 |
Immunodeficiency 70 |
|
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... |
OMIM:618969 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... |
OMIM:202700 |
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia |
ORPHA:209004 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Agammaglobulinemia |
OMIM:613500 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Agammaglobulinemia 8, Autosomal Dominant |
|
B lymphocytopenia, Agammaglobulinemia, Recurrent otitis media |
OMIM:616941 |
Immunodeficiency 60 And Autoimmunity |
|
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, C... |
OMIM:618394 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating antibody level, Recurrent skin infections |
OMIM:617744 |
Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Mediastinal lymphadenopathy, Increased ci... |
OMIM:618534 |
Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG |
OMIM:613495 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Psoriasiform dermatitis, Eczema, Hepatomegaly, Bronchiectasis, Decreased circulating IgA level, L... |
OMIM:616100 |
Thrombocytopenia 7 |
|
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla... |
OMIM:619130 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Neutropenia, Decreased lymphocyte apoptosis, Leukemia, Monocytosis, Splenomegaly, I... |
OMIM:614470 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor... |
OMIM:308220 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Immune Deficiency Disease |
|
Cholangitis, Fulminant hepatitis, Decreased circulating total IgM |
OMIM:242850 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia, Bronchiectasis |
OMIM:193670 |
Immunodeficiency 72 With Autoinflammation |
|
Herpes simplex encephalitis, Increased B cell count, Increased proportion of memory T cells, Bron... |
OMIM:618982 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Secretory Component Deficiency |
|
Secretory IgA deficiency |
OMIM:269650 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Neutropenia, Thrombocytopenia, Stomatitis, Decreased circulating IgA level, Impaire... |
OMIM:308230 |
Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia |
OMIM:615592 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Immunodeficiency 46 |
|
Neutropenia, Chronic oral candidiasis, Decreased circulating antibody level, Anemia, Intermittent... |
OMIM:616740 |
Lymphoproliferative Syndrome 3 |
|
Lymphadenopathy, Decreased circulating antibody level, Reduced natural killer cell count, Hepatos... |
OMIM:618261 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating total IgA, Erythroderma, Pneumonia, Decreased circulating IgG level, Hepati... |
ORPHA:169160 |
Palmoplantar Keratoderma, Epidermolytic |
|
Increased circulating IgE level |
OMIM:144200 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased circulating IgG level, Otitis media, Decreased proportion of CD4-... |
OMIM:312863 |
Immunodeficiency 25 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Increased cir... |
OMIM:610163 |
Cirrhosis, Familial |
|
Cirrhosis, Chronic active hepatitis, Increased circulating antibody level, Hepatitis |
OMIM:118900 |
Immunodeficiency 85 And Autoimmunity |
|
Eczema, Erythroderma, Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG ... |
OMIM:619510 |
Kimura Disease |
|
Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia |
ORPHA:482 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Sinusitis, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Pneumonia, Bronchiectasis, Decreas... |
OMIM:601495 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:300861 |
Immunodeficiency 92 |
|
Cholangitis, Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cel... |
OMIM:619652 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Infectious encephalitis, Neutropenia, Lymphadenopathy, Reduced natural killer cell ... |
OMIM:308240 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Pneumonia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Glomerulonephritis, ... |
OMIM:247800 |
Candidiasis, Familial, 2 |
|
Lymphadenopathy, Increased circulating IgE level, Chronic oral candidiasis, Hypereosinophilia |
OMIM:212050 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... |
OMIM:601859 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed hypersen... |
OMIM:617241 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Increased circulating antibody level, Autoimmune hem... |
OMIM:618495 |
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 Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Inflammatory abnormality of the skin, B lymphocytopenia, Absent tonsils, Lack of T cel... |
ORPHA:277 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Decreased circulating IgA level, Lymphadenitis, Decreased ci... |
ORPHA:331206 |
Immunodeficiency, Common Variable, 11 |
|
Inflammation of the large intestine, Decreased proportion of class-switched memory B cells, Decre... |
OMIM:615767 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level, Thrombocytopenia, Glomerulonephritis |
OMIM:314000 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level |
ORPHA:2572 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM |
ORPHA:2643 |
Immunodeficiency 84 |
|
B lymphocytopenia, Perianal abscess, Splenomegaly |
OMIM:619437 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... |
OMIM:619271 |
Immunodeficiency 27A |
|
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Lymphadenopathy, Anemia, Increased ... |
OMIM:209950 |
Glanzmann Thrombasthenia 2 |
|
Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Impaired collagen-in... |
OMIM:619267 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... |
OMIM:616098 |
Immunodeficiency 52 |
|
Bronchiectasis, Lymphadenopathy, Coombs-positive hemolytic anemia, Increased proportion of gamma-... |
OMIM:617514 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Lichtenstein Syndrome |
|
Decreased circulating IgA level, Neutropenia |
OMIM:246550 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Sinusitis, Atopic dermatitis, B lymphocytopenia, Decreased specific antibody response to polysacc... |
ORPHA:70593 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Chronic oral candidiasis, Decre... |
ORPHA:275 |
Immunodeficiency 61 |
|
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Arthritis, Recurrent ... |
OMIM:300310 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Interstitial pneumonitis, Ulcerative colitis, Decreased circulat... |
OMIM:614878 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level,... |
OMIM:275350 |
Schnitzler Syndrome |
|
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating IgM level |
ORPHA:37748 |
Mannose-Binding Lectin Deficiency |
|
Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurrent herpes, Recurr... |
OMIM:614372 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level, Macronodular cirrhosis, Abnormal T cell morphology |
OMIM:215250 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Erythroderma, Neutropenia, Increased circulating IgA level, Lymphadenopathy, Decreased lymphocyte... |
ORPHA:169154 |
Cernunnos-Xlf Deficiency |
|
B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Thrombocytopenia, T... |
ORPHA:169079 |
Platelet Signal Processing Defect |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platele... |
OMIM:173590 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Transient neutropenia, Liver abscess |
OMIM:607676 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM |
OMIM:251190 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94090 |
Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
Blue Diaper Syndrome |
|
Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
Athrombia, Essential |
|
Prolonged bleeding time, Impaired platelet aggregation, Impaired platelet adhesion |
OMIM:209050 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Lymphadenopathy, Splenomegaly, Uveitis, Decreased circulatin... |
OMIM:614700 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level |
OMIM:616873 |
Immunodeficiency 43 |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:241600 |
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 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific pneumococcal antib... |
OMIM:617006 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
B lymphocytopenia, Neutropenia, Pancytopenia, Leukopenia, Partial absence of specific antibody re... |
OMIM:618986 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:2239 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi... |
OMIM:613101 |
Thrombocythemia 1 |
|
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... |
OMIM:187950 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Abnormal platelet function, Decreased circulating antibody level, Acute myelo... |
ORPHA:2585 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
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 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Pustule, Lack of T... |
ORPHA:35078 |
Bone Marrow Failure Syndrome 5 |
|
Decreased circulating antibody level, Anemia, Pure red cell aplasia |
OMIM:618165 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Psoriasiform dermatitis, Eczema, B lymphocytopenia, Erythroderma, Decreased circulating IgA level... |
OMIM:606367 |
Adult Idiopathic Neutropenia |
|
Neutropenia, Monocytosis, Increased circulating IgM level, Lymphopenia, Monocytopenia, Recurrent ... |
ORPHA:2688 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Inflammation of the large intestine, Folliculitis, Hepatitis, Decreased circulating... |
OMIM:300635 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Bronchiectasis, Decreased circulating antibody level, Recurrent skin infections, Recurrent pneumo... |
OMIM:616576 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Agammaglobulinemia, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, Conjunctivitis |
OMIM:612692 |
Neurodegeneration, Infantile-Onset, Biotin-Responsive |
|
Decreased circulating IgG level |
OMIM:618973 |
Immunodeficiency, Common Variable, 10 |
|
Psoriasiform dermatitis, Decreased circulating IgA level, Decreased circulating IgG level, Recurr... |
OMIM:615577 |
Myopathy, Tubular Aggregate, 2 |
|
Elevated circulating creatine kinase concentration, Hypocalcemia |
OMIM:615883 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy, Dysgammaglobulinemia, Anemia |
ORPHA:158014 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Severe recurrent varicella |
OMIM:300645 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Mediastinal lymphadenopathy, Decreased CD69 upregulation upon TCR activation, Bronchiectasis, Lym... |
OMIM:300853 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Decreased circulating IgG level, Neutropenia |
OMIM:600351 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Incr... |
OMIM:300291 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... |
OMIM:603909 |
Immunodeficiency 30 |
|
Recurrent infections, Recurrent mycobacterial infections |
OMIM:614891 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating... |
ORPHA:100024 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating antibody level, Pneumonia |
OMIM:614069 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, Decreased circulating IgA level, Reduced natural killer cel... |
OMIM:242860 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Decreased circulating ant... |
OMIM:618108 |
Okur-Chung Neurodevelopmental Syndrome |
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Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... |
OMIM:617062 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Sinusitis, Abnormal CD4:CD8 ratio, Neutropenia, Lack of T cell function, Neutropenia in presence ... |
ORPHA:572 |
Hypoparathyroidism, Familial Isolated, 1 |
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Hyperphosphatemia, Hypocalcemia |
OMIM:146200 |
Reticular Dysgenesis |
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Leukopenia, Chronic otitis media, Decreased circulating antibody level, Anemia, Skin rash, Aplasi... |
ORPHA:33355 |
Bone Marrow Failure Syndrome 4 |
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Eczema, Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Th... |
OMIM:618116 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
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Hypoproteinemia |
OMIM:207731 |
Complement Component 8 Deficiency, Type Ii |
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Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
Riddle Syndrome |
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Decreased circulating IgG level |
OMIM:611943 |
Complement Factor D Deficiency |
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Recurrent bacterial infections |
OMIM:613912 |
X-Linked Lymphoproliferative Disease |
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Myocarditis, Inflammation of the large intestine, Lymphadenopathy, Decreased circulating antibody... |
ORPHA:2442 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
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Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
Immunodeficiency 89 And Autoimmunity |
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Hypochromic microcytic anemia, Bronchiectasis, Increased circulating IgA level, Increased circula... |
OMIM:619632 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
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Lymphadenopathy, Thrombocytopenia, Increased circulating antibody level |
OMIM:618048 |
Boutonneuse Fever |
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Leukopenia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgM level, Ce... |
ORPHA:83313 |
Combined Immunodeficiency Due To Dock8 Deficiency |
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Atopic dermatitis, B lymphocytopenia, Pneumonia, Chronic otitis media, Increased circulating IgE ... |
ORPHA:217390 |
Erythema Elevatum Diutinum |
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Increased circulating antibody level |
ORPHA:90000 |
Alpha-Heavy Chain Disease |
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Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Dysgammaglobulinemia |
ORPHA:100025 |
Platelet Aggregation, Spontaneous |
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Abnormal platelet function, Spontaneous platelet aggregation |
OMIM:173400 |
Lymphangiectasia, Intestinal |
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Intestinal lymphangiectasia, Decreased circulating IgG level, Lymphopenia |
OMIM:152800 |
Thrombocytopenia, Cyclic |
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Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
Neuronal Intestinal Pseudoobstruction |
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Decreased circulating antibody level |
ORPHA:99811 |
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia |
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Decreased circulating antibody level |
OMIM:618042 |
Bare Lymphocyte Syndrome, Type Ii |
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Cholangitis, Agammaglobulinemia, Infectious encephalitis, Neutropenia, Biliary tract abnormality,... |
OMIM:209920 |
Immunoneurologic Disorder, X-Linked |
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Decreased circulating IgG2 level |
OMIM:300076 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
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Thrombocytosis, Eczema, Macrocytic anemia, Decreased circulating antibody level, Megaloblastic an... |
OMIM:617780 |
Macrocephaly/Autism Syndrome |
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Hepatomegaly, Decreased circulating antibody level, Lymphopenia, Splenomegaly |
OMIM:605309 |
Myotonic Dystrophy 2 |
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Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:602668 |
Complement Component 6 Deficiency |
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Recurrent meningococcal disease |
OMIM:612446 |
Panniculitis-Induced Localized Lipodystrophy |
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Abnormal immunoglobulin level |
ORPHA:90159 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
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Increased circulating IgE level, Eczema, Thyroiditis |
OMIM:618985 |
Primary Intestinal Lymphangiectasia |
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Abnormal lymphatic vessel morphology, Decreased circulating IgA level, Decreased circulating IgG ... |
ORPHA:90362 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Absent tonsils, Pneumonia, Lymph node hypoplasia, Aplasia of the thymus, Otitis media, Panhypogam... |
OMIM:602450 |
Xq28 (MECP2) duplication |
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Decreased circulating IgA level |
DECIPHER:45 |
Congenital Disorder Of Glycosylation, Type Iir |
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Hepatomegaly, Decreased circulating antibody level, Micronodular cirrhosis, Hepatic steatosis, De... |
OMIM:301045 |
Reticular Dysgenesis |
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Lack of T cell function, Leukopenia, Impaired T cell function, Congenital agranulocytosis, Hypopl... |
OMIM:267500 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
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Eczema, Bronchiectasis, Recurrent otitis media, Keratitis, Increased circulating IgE level, Eosin... |
OMIM:618523 |
Pseudohypoparathyroidism, Type Ib |
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Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Lymphoproliferative Syndrome 2 |
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Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level, Decreased lymphocyte prolife... |
OMIM:615122 |
Myelolymphatic Insufficiency |
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Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
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Eczema, Eosinophilia, Erythroderma, Neutropenia, Lymphadenopathy, Coombs-positive hemolytic anemi... |
OMIM:304790 |
Autosomal Agammaglobulinemia |
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Sinusitis, Agammaglobulinemia, Neutropenia, Bronchiectasis, Chronic otitis media, Hepatitis, Arth... |
ORPHA:33110 |
Bleeding Disorder, Platelet-Type, 18 |
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Prolonged bleeding time, Impaired platelet aggregation |
OMIM:615888 |
Immunodeficiency 36 |
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Chronic lymphatic leukemia, Bronchiectasis, Decreased circulating antibody level, Splenomegaly, L... |
OMIM:616005 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia |
OMIM:183350 |
Peeling Skin Syndrome 1 |
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Increased circulating IgE level |
OMIM:270300 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
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Increased circulating IgE level |
ORPHA:1858 |
Parathyroid Carcinoma |
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Hypercalcemia |
OMIM:608266 |
X-Linked Agammaglobulinemia |
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Sinusitis, Agammaglobulinemia, Neutropenia, Recurrent cutaneous abscess formation, Chronic otitis... |
ORPHA:47 |
Glanzmann Thrombasthenia 1 |
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Decreased platelet glycoprotein IIb-IIIa, Prolonged bleeding time, Impaired platelet aggregation,... |
OMIM:273800 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
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Reduced natural killer cell activity, Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis |
OMIM:608898 |
Vitamin D-Dependent Rickets, Type 3 |
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Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Pulmonary Nodular Lymphoid Hyperplasia, Familial |
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Increased circulating antibody level |
OMIM:178610 |
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
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Transient hypogammaglobulinemia of infancy |
OMIM:251240 |
Diamond-Blackfan Anemia 18 |
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Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
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Increased circulating IgE level |
ORPHA:89843 |
Bleeding Disorder, Platelet-Type, 22 |
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Impaired platelet aggregation |
OMIM:618462 |
Lambert Syndrome |
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Jaundice, Decreased circulating antibody level, Cholestasis, Intrahepatic biliary atresia |
ORPHA:1296 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
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Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media |
OMIM:616022 |
Immunodeficiency 76 |
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B lymphocytopenia, T lymphocytopenia, Lymphopenia, Splenomegaly |
OMIM:619164 |
Cyclic Neutropenia |
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Neutropenia, Cyclic neutropenia |
OMIM:162800 |
Melorheostosis With Osteopoikilosis |
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Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Pancreatic insufficiency, combined exocrine |
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Hypoproteinemia |
OMIM:260450 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
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Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Increased circulating IgE level, Recurr... |
OMIM:147060 |
Cystic Fibrosis |
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Hepatomegaly, Biliary cirrhosis, Decreased circulating antibody level, Exocrine pancreatic insuff... |
ORPHA:586 |
Familial Hemophagocytic Lymphohistiocytosis |
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Hepatomegaly, Abnormality of serum cytokine level, Increased circulating interleukin 6, Erythrode... |
ORPHA:540 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
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Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... |
OMIM:619041 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
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Eczema, Inflammation of the large intestine, Neutropenia, Decreased circulating IgG level, Chroni... |
OMIM:608809 |
Neutrophil Actin Dysfunction |
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Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 28 |
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Recurrent mycobacterial infections |
OMIM:614889 |
Platelet Responsiveness To Adrenaline, Depressed |
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Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Granulomatous disease with defect in neutrophil chemotaxis |
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Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... |
ORPHA:231154 |
Gray Platelet Syndrome |
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Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Myelofibrosis,... |
OMIM:139090 |
Ataxia-Telangiectasia |
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Sinusitis, Bronchiectasis, Decreased circulating IgA level, Leukemia, Defective B cell differenti... |
OMIM:208900 |
X-Linked Immunoneurologic Disorder |
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Decreased circulating IgG2 level |
ORPHA:2571 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
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Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Lymp... |
OMIM:617099 |
Immunodeficiency, Common Variable, 6 |
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Hepatomegaly, Decreased specific pneumococcal antibody level, Glomerulonephritis, Complete or nea... |
OMIM:613496 |
Immunodeficiency 51 |
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Chronic furunculosis, Recurrent bronchitis, Chronic oral candidiasis, Recurrent otitis media, Chr... |
OMIM:613953 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
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Decreased circulating antibody level, Lymphopenia |
ORPHA:1116 |
Acquired Idiopathic Sideroblastic Anemia |
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Leukocytosis, Hepatomegaly, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... |
ORPHA:75564 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
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Cholangitis, Decreased specific pneumococcal antibody level, Decreased circulating total IgM, Liv... |
ORPHA:183675 |
Hypocalcemia, Autosomal Dominant 1 |
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Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
Immunodeficiency 81 |
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Recurrent cutaneous abscess formation, Reduced natural killer cell activity, Recurrent infections... |
OMIM:619374 |
Insulin Autoimmune Syndrome |
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Increased circulating antibody level |
ORPHA:411593 |
Bleeding Disorder, Platelet-Type, 16 |
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Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Lymphadenopathy, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, ... |
OMIM:615559 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Cutaneous anergy, Recurren... |
OMIM:600802 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
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Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia |
OMIM:619658 |
Refractory Anemia |
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Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... |
ORPHA:98826 |
Immunodeficiency With Hyper-Igm, Type 4 |
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Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Osteomyelitis,... |
OMIM:608184 |
Interstitial Lung Disease 2 |
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Cirrhosis, Increased circulating antibody level |
OMIM:178500 |
Bleeding Disorder, Platelet-Type, 21 |
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Thrombocytopenia, Recurrent viral infections, Impaired platelet aggregation |
OMIM:617443 |
Lymphoproliferative Syndrome 1 |
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Hepatomegaly, Leukopenia, Stomatitis, Lymphadenopathy, Decreased circulating IgG level, Decreased... |
OMIM:613011 |
Specific Granule Deficiency 1 |
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Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... |
OMIM:245480 |
Refractory Celiac Disease |
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Hypoproteinemia, Hypoalbuminemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia |
ORPHA:398063 |
Nephrotic Syndrome, Type 22 |
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Hypoproteinemia |
OMIM:619155 |
Trimethylaminuria |
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Anemia, Recurrent pneumonia, Neutropenia, Splenomegaly |
OMIM:602079 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
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Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections |
OMIM:614868 |
Immunodeficiency 47 |
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Hepatomegaly, Decreased circulating total IgA, Hepatic fibrosis, Decreased circulating total IgG,... |
OMIM:300972 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Osteopetrosis, Autosomal Recessive 7 |
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Hepatomegaly, Decreased circulating IgA level, Decreased circulating IgG level, Anemia, Splenomeg... |
OMIM:612301 |
Immunodeficiency 13 |
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B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... |
OMIM:615518 |
Immunodeficiency 15A |
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Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... |
OMIM:618204 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia, Colitis |
OMIM:615190 |
Smith-Kingsmore Syndrome |
|
Decreased circulating IgA level, Thrombocytopenia |
OMIM:616638 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
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Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616910 |
Hyperostosis Corticalis Generalisata |
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Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3416 |
Ficolin 3 Deficiency |
|
Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat... |
OMIM:613860 |
Bloom Syndrome |
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Bronchiectasis, Decreased circulating IgA level, Leukemia, Decreased circulating IgG level, Malar... |
OMIM:210900 |
Pgm3-Cdg |
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Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Chronic otitis media, ... |
ORPHA:443811 |
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death |
|
Decreased circulating IgA level, Abnormality of the thymus, Leukemia |
OMIM:208910 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Jaundice, Skin rash, Thrombocyt... |
OMIM:603552 |
Tempi Syndrome |
|
Polycythemia, Increased hematocrit, Increased circulating IgG level |
ORPHA:284227 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Increased circulating antibody level, Thrombocytopenia, Splenomegaly |
OMIM:615846 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Keratoconjunctivitis sicca, Hepatomegaly, Increased circulating IgA level, Increased circulating ... |
OMIM:617388 |
+173470 integrin, beta-3 |
|
Decreased platelet glycoprotein IIb-IIIa, Post-transfusion thrombocytopenia, Impaired platelet ag... |
OMIM:173470 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Alopecia Antibody Deficiency |
|
Decreased circulating antibody level |
ORPHA:1006 |
Inflammatory Pseudotumor Of The Liver |
|
Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Increased hepatitis B virus antibody... |
ORPHA:90003 |
Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia |
ORPHA:172 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
Rasmussen Subacute Encephalitis |
|
Decreased circulating total IgA |
ORPHA:1929 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Pustule, Myositis, Lymphadenopathy, Acne, Arthritis, Increased inflammatory response, Crohn's dis... |
ORPHA:69126 |
Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Complement deficiency, Increased circulating IgE level, Increas... |
ORPHA:449400 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Discoid lupus rash, Chronic myelomonocytic leukemia, Malar ... |
ORPHA:90280 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Decreased circulating antibody level |
ORPHA:85317 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... |
OMIM:267700 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Decreased circulating IgA level, Hepatitis, Splenomegaly, Hypersplenism, Pancytopen... |
OMIM:613385 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Eczema, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil antibodies, Decreased... |
OMIM:615952 |
Hypotrichosis Simplex Of The Scalp |
|
Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis |
ORPHA:90368 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Increased circulating IgA level... |
OMIM:600903 |
Platelet Disorder, Undefined |
|
Thrombocytopenia, Prolonged bleeding time, Impaired platelet aggregation |
OMIM:173420 |
Angiostrongyliasis |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... |
ORPHA:74 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Increased circulating IgE level, Blepharitis, Erythroderma, Pustule |
OMIM:614328 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Iga Pemphigus |
|
Pustule, Increased circulating IgA level, Neutrophilic infiltration of the skin, Monoclonal eleva... |
ORPHA:555905 |
Immunodeficiency 31B |
|
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections |
OMIM:613796 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bo... |
ORPHA:2790 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Coccidioidomycosis, Severe toxoplasmosis, BCGosis, Salmonella osteomyelitis, Histoplasmosis, Diss... |
ORPHA:319552 |
Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Increased circulating interleukin 6, Neutropenia, Lymphadenopathy, Hepatitis, Anemi... |
ORPHA:158061 |
Thrombocytopenia 1 |
|
Eczema, Increased circulating IgA level, Decreased mean platelet volume, Intermittent thrombocyto... |
OMIM:313900 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation |
OMIM:614009 |
Omenn Syndrome |
|
B lymphocytopenia, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymphocytopenia, Thro... |
OMIM:603554 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Psoriasiform dermatitis, B lymphocytopenia, Decreased circulating total IgA, Decreased specific a... |
ORPHA:221139 |
Netherton Syndrome |
|
Allergic rhinitis, Erythroderma, Decreased circulating IgG level, Increased circulating IgE level... |
OMIM:256500 |
Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin |
ORPHA:86816 |
Hypomagnesemia 4, Renal |
|
Hypomagnesemia |
OMIM:611718 |
Neutropenia, Severe Congenital, X-Linked |
|
Neutropenia |
OMIM:300299 |
Immunodeficiency 23 |
|
Eczema, Allergic rhinitis, Neutropenia, Bronchiectasis, Abscess, Increased circulating IgG level,... |
OMIM:615816 |
Mogs-Cdg |
|
Hepatomegaly, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circula... |
ORPHA:79330 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Leukocytosis, Increased circulating IgG level |
ORPHA:206594 |
2P21 Microdeletion Syndrome |
|
Hypocalcemia |
ORPHA:163693 |
Bleeding Disorder, Platelet-Type, 8 |
|
Impaired ADP-induced platelet aggregation |
OMIM:609821 |
Immunodeficiency 55 |
|
Lymphadenopathy, Eczema, Recurrent skin infections, Neutropenia |
OMIM:617827 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Reduced delayed hypersensitivity |
OMIM:607624 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Lymphadenopathy, Chronic ... |
OMIM:150550 |
Good Syndrome |
|
Sinusitis, Mediastinal lymphadenopathy, Bronchiectasis, Decreased circulating antibody level, Ane... |
ORPHA:169105 |
Immunodeficiency 56 |
|
Cholangitis, Bronchiectasis, Recurrent otitis media, Cirrhosis, Panhypogammaglobulinemia, Recurre... |
OMIM:615207 |
Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections |
OMIM:608957 |
Immunodeficiency 68 |
|
B lymphocytopenia, Abscess, T lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Bone marrow hypocellularity, Neutropenia |
OMIM:617243 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Thrombocytosis, Pustule, Leukopenia, Myositis, Increased circulating IgA level, Paratracheal lymp... |
OMIM:615934 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia |
ORPHA:93324 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
ORPHA:3261 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Abnormality of the intrahepatic bile duct, Interface hepatitis, Granulomatous cholangitis, Increa... |
ORPHA:562639 |
Lassa Fever |
|
Increased circulating IgM level, Jaundice |
ORPHA:99824 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Decreased circulating IgA level |
ORPHA:457485 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Leishmaniasis |
|
Hepatomegaly, Leukopenia, Rhinitis, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophage mo... |
ORPHA:507 |
Felty Syndrome |
|
Sinusitis, Hepatomegaly, Pericarditis, Episcleritis, Synovitis, Neutropenia, Chronic otitis media... |
ORPHA:47612 |
Von Willebrand Disease, Type 3 |
|
Thrombocytopenia, Joint hemorrhage, Prolonged bleeding time, Impaired platelet aggregation |
OMIM:277480 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Anemia, Splenomegaly, Acute ... |
ORPHA:158057 |
Aggressive Systemic Mastocytosis |
|
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Lymphadenopathy, Anemia, Abnormal mast cel... |
ORPHA:98850 |
Autoimmune Hepatitis |
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Hepatocellular carcinoma, Fulminant hepatitis, Increased circulating IgG level, Acute hepatitis, ... |
ORPHA:2137 |
Bone Marrow Failure Syndrome 6 |
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Neutropenia, Increased mean corpuscular volume, Bone marrow hypocellularity, Anemia, Persistence ... |
OMIM:618849 |
Simple Cryoglobulinemia |
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Viral hepatitis, Chronic lymphatic leukemia, Monoclonal immunoglobulin M proteinemia, Complement ... |
ORPHA:91139 |
Citrullinemia Type Ii |
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Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia, A... |
ORPHA:247585 |
Tularemia |
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Brain abscess, Leukocytosis, Mediastinal lymphadenopathy, Thrombocytopenia, Pneumonia, Lymphadeno... |
ORPHA:3392 |
Hyper-Igd Syndrome |
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Leukocytosis, Increased circulating IgA level, Lymphadenitis, Chronic oral candidiasis, Lymphaden... |
OMIM:260920 |
Riddle Syndrome |
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Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Chronic sinusitis, A... |
ORPHA:420741 |
Thymic Tumor |
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Dysgammaglobulinemia, Pericarditis, Mediastinal lymphadenopathy, Neoplasm of the thymus |
ORPHA:100100 |
Griscelli Syndrome |
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Hepatomegaly, Leukopenia, Lymphadenopathy, Hepatitis, Decreased circulating antibody level, Bone ... |
ORPHA:381 |
Aspergillosis |
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Sinusitis, Infectious encephalitis, Neutropenia, Pneumonia, Bronchiectasis, Hepatitis, Osteomyeli... |
ORPHA:1163 |
Roifman Syndrome |
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Eczema, Lymphadenopathy, Decreased circulating antibody level, Recurrent otitis media, Hepatosple... |
ORPHA:353298 |
Bloom Syndrome |
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Acute lymphoblastic leukemia, Abnormal proportion of CD8-positive T cells, Pneumonia, Decreased c... |
ORPHA:125 |
Whim Syndrome |
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Sinusitis, Neutropenia, Pneumonia, Bronchiectasis, Lymphadenitis, Decreased circulating antibody ... |
ORPHA:51636 |
Purine Nucleoside Phosphorylase Deficiency |
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Sinusitis, Pneumonia, Impaired T cell function, Neutropenia in presence of anti-neutropil antibod... |
OMIM:613179 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Decreased circulating IgA level, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:613327 |
Hereditary Folate Malabsorption |
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Cheilitis, Decreased circulating antibody level, Megaloblastic anemia, Pancytopenia, Thrombocytop... |
ORPHA:90045 |
Mast Cell Sarcoma |
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Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis |
ORPHA:66661 |
Schimke Immunoosseous Dysplasia |
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Abnormal T cell morphology, Neutropenia, Abnormal immunoglobulin level, Anemia, Lymphopenia, Thro... |
OMIM:242900 |
Quebec Platelet Disorder |
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Thrombocytopenia, Joint hemorrhage, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
Celiac Disease, Susceptibility To, 1 |
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Thrombocytosis, Eczema, Macrocytic anemia, Stomatitis, Decreased circulating IgA level, Iron defi... |
OMIM:212750 |
Osteochondrosis Of The Metatarsal Bone |
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Joint stiffness, Sclerosis of foot bone, Arthritis, Thickened cortex of bones |
ORPHA:564003 |
Autoimmune Hypoparathyroidism |
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Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:36913 |
Congenital Disorder Of Glycosylation, Type Ia |
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Hepatomegaly, Thrombocytosis, Hepatic fibrosis, Decreased circulating IgA level, Decreased circul... |
OMIM:212065 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
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Abnormal dense granule content, Prolonged bleeding time, Abnormal alpha granule content, Thromboc... |
OMIM:601399 |
Renal Tubular Acidosis, Distal, 1 |
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Hypocalcemia |
OMIM:179800 |
Bleeding Disorder, Platelet-Type, 12 |
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Joint hemorrhage, Impaired platelet aggregation |
OMIM:605735 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
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Hypoproteinemia, Elevated circulating creatine kinase concentration, Increased circulating free f... |
ORPHA:26793 |
Hypercalcemia, Infantile, 2 |
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Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Immunodeficiency 82 With Systemic Inflammation |
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Lymphadenopathy, Hepatitis, Splenomegaly, Gastritis, Crohn's disease, Decreased circulating total... |
OMIM:619381 |
Maternal Uniparental Disomy Of Chromosome 1 |
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Pancytopenia, Hepatomegaly, Panhypogammaglobulinemia |
ORPHA:251009 |
Neutropenia, Lethal Congenital, With Eosinophilia |
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Eosinophilia, Neutropenia |
OMIM:257100 |
Pyoderma Gangrenosum |
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Inflammation of the large intestine, Pustule, Myositis, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Idiopathic Chronic Eosinophilic Pneumonia |
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Atopic dermatitis, Increased circulating IgE level, Hypereosinophilia, Leukocytosis |
ORPHA:2902 |
Sclerosteosis |
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Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3152 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Hyponatremia, Hypoproteinemia, Increased total bilirubin, Increased circulating ferritin concentr... |
OMIM:603553 |
Congenital Disorder Of Glycosylation, Type Ij |
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Hypoproteinemia |
OMIM:608093 |
Primary Biliary Cholangitis |
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Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Increased ... |
ORPHA:186 |
Dengue Fever |
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Hypoproteinemia |
ORPHA:99828 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
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Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
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Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Secondary Intestinal Lymphangiectasia |
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Constrictive pericarditis, Decreased circulating IgA level, Decreased circulating antibody level,... |
ORPHA:90363 |
Hypervitaminosis A, Susceptibility To |
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Hypercalcemia |
OMIM:240150 |
Small Cell Carcinoma Of The Bladder |
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Hypercalcemia |
ORPHA:284400 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
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Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Recurren... |
OMIM:243700 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
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Thrombocytopenia, Abnormal platelet function |
ORPHA:231393 |
Neutrophilia, Hereditary |
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Neutrophilia, Hepatosplenomegaly |
OMIM:162830 |
Fanconi Anemia, Complementation Group G |
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Leukemia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614082 |
Igg4-Related Submandibular Gland Disease |
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Cholangitis, Lymphadenopathy, Retroperitoneal fibrosis, Increased circulating IgG4 level, Increas... |
ORPHA:449432 |
Autosomal Dominant Hypophosphatemic Rickets |
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Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
Ataxia-Telangiectasia |
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Decreased circulating antibody level, Lymphopenia, Aplasia/Hypoplasia of the thymus |
ORPHA:100 |
Icf Syndrome |
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Abnormality of neutrophils, Decreased circulating antibody level, Anemia, Lymphopenia |
ORPHA:2268 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Eczema, Tubulointerstitial nephritis, Neutropenia, Neutropenia in presence of anti-neutropil anti... |
ORPHA:37042 |
Zika Virus Disease |
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Thrombocytopenia, Increased circulating IgM level |
ORPHA:448237 |
Agammaglobulinemia, X-Linked |
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Sinusitis, Enteroviral hepatitis, Agammaglobulinemia, Infectious encephalitis, Pyoderma, Pneumoni... |
OMIM:300755 |
Subcorneal Pustular Dermatosis |
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Increased circulating antibody level |
ORPHA:48377 |
Hyperimmunoglobulinemia D With Periodic Fever |
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Hepatomegaly, Peritonitis, Increased circulating IgA level, Lymphadenopathy, Arthritis, Recurrent... |
ORPHA:343 |
3-Methylglutaconic Aciduria, Type Vii |
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Neutropenia |
OMIM:616271 |
Sézary Syndrome |
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Hepatomegaly, Erythroderma, Lymphadenopathy, Abnormal immunoglobulin level, Abnormal lymphocyte m... |
ORPHA:3162 |
Hermansky-Pudlak Syndrome 2 |
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Hepatomegaly, Neutropenia, Reduced natural killer cell activity, Chronic oral candidiasis, Recurr... |
OMIM:608233 |
Mucopolysaccharidosis-Plus Syndrome |
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Hepatomegaly, Neutropenia, Leukopenia, Bone marrow hypocellularity, Anemia, Splenomegaly, Macrove... |
OMIM:617303 |
Familial Isolated Hypoparathyroidism |
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Hypocalcemia |
ORPHA:2238 |
Selective Igm Deficiency |
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Non-infectious meningitis, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy,... |
ORPHA:331235 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
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Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
Common Variable Immunodeficiency |
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Pneumonia, Bronchiectasis, Chronic otitis media, Lymphadenopathy, Decreased circulating antibody ... |
ORPHA:1572 |
Granulomatous Slack Skin |
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Hypercalcemia |
ORPHA:33111 |
Wiskott-Aldrich Syndrome |
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Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... |
OMIM:301000 |
Hermansky-Pudlak Syndrome 6 |
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Abnormal platelet granules, Prolonged bleeding time, Recurrent upper respiratory tract infections... |
OMIM:614075 |
Multiple Myeloma |
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Increased circulating IgA level, Lymphadenopathy, Decreased circulating antibody level, Anemia, I... |
ORPHA:29073 |
Ghosal Hematodiaphyseal Dysplasia |
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Craniofacial hyperostosis, Abnormal cortical bone morphology |
ORPHA:1802 |
Glutathione Synthetase Deficiency |
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Hemolytic anemia, Neutropenia |
OMIM:266130 |
Specific Granule Deficiency 2 |
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