Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
Cystic Angiomatosis Of Bone, Diffuse |
|
Cystic angiomatosis of bone |
OMIM:123880 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... |
OMIM:615897 |
Immunodeficiency 14A, Autosomal Dominant |
|
Recurrent sinopulmonary infections, Splenomegaly, Decreased specific pneumococcal antibody level,... |
OMIM:615513 |
Immunodeficiency 72 With Autoinflammation |
|
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Increased B cel... |
OMIM:618982 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Immunodeficiency 37 |
|
Colitis, Decreased circulating antibody level, Recurrent infections, Infectious encephalitis, Dec... |
OMIM:616098 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Elevated circulating C-reactive protein concentration, Hepatomegaly, Hemophagocytosis, Aplastic a... |
OMIM:308240 |
Immunodeficiency 48 |
|
Recurrent candida infections, Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Panhypogammaglob... |
OMIM:269840 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Recurrent otitis media, Neutropenia in presence of anti-neutropil antibodies, Recurrent oral herp... |
OMIM:619220 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Decreased circulating IgG level, Otitis media, Decreased proportion of CD8-positive T ... |
OMIM:312863 |
Immunodeficiency 64 |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgA level, Decre... |
OMIM:618534 |
Histiocytosis, Familial Lipochrome |
|
Increased alpha-globulin, Increased circulating antibody level, Recurrent infections, Histiocytosis |
OMIM:235900 |
Immunodeficiency 95 |
|
Lymphopenia, Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections... |
OMIM:619773 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Immunodeficiency 86 |
|
Impaired oxidative burst, BCGitis, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level, T ... |
OMIM:242870 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... |
OMIM:608106 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Erythroderma, Recurrent viral infections, Increased circulating antibody level, Increased circula... |
ORPHA:169154 |
Lymphoid System Deterioration, Progressive |
|
Decreased circulating total IgM, Abnormal T cell morphology, Decreased circulating IgG level, Lym... |
OMIM:247630 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Lymphoproliferative Syndrome 2 |
|
EBV meningitis, Decreased lymphocyte proliferation in response to mitogen, Hepatomegaly, Hemophag... |
OMIM:615122 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent protozoan infections, Colitis, Viral hepatitis, Recurrent fungal infections, Recurrent ... |
OMIM:209920 |
Immunodeficiency 18 |
|
Recurrent gastroenteritis, Defective T cell proliferation, Lymphopenia, Recurrent otitis media, D... |
OMIM:615615 |
Immunodeficiency 25 |
|
Recurrent candida infections, Increased circulating IgA level, Recurrent herpes, Eosinophilia, Co... |
OMIM:610163 |
Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Hemophagocytosis, Eczema, Decreased proportion of C... |
OMIM:619802 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M... |
OMIM:153600 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Cutaneous abscess, Increased circulating interleukin 6 concentration, Decreased circulating IgG l... |
OMIM:618944 |
Immunodeficiency 36 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Enlarged tonsils, ... |
OMIM:616005 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In... |
OMIM:209950 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Sepsis, Recurrent opportunistic infections, Pneumonia, Recurrent Haemophilus influe... |
ORPHA:276 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Lymphocytic interstitial pneumonia, Splenomegaly, Recurrent urinary tract infection... |
OMIM:618495 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Impaired memory B cell generation, Sepsis, Absence of lymph node germinal center, D... |
OMIM:308230 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating total IgM, Recurrent bacterial infections,... |
OMIM:613500 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Onychomycosis, Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Deep dermat... |
OMIM:212050 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Eczema, Decreased proportion of CD8-positive T cells, Reduced nat... |
OMIM:614493 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Persistent CMV viremia, Auto... |
OMIM:300853 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgA level, Recurrent fungal infections, Decreased circulating IgG level, He... |
OMIM:300400 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Decreased circulating total IgM, Recurrent infections |
OMIM:606445 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... |
OMIM:607271 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Sepsis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic... |
OMIM:300755 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Recurrent fungal infections, Eosinophilic infiltration of the esophagus, Eosinophilia, Decreased ... |
OMIM:243700 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Eczema, Decreased proportion of CD8-positive T cells, Decreased proport... |
OMIM:617241 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Adult Idiopathic Neutropenia |
|
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact... |
ORPHA:2688 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Maculopapular exant... |
ORPHA:540 |
Immunodeficiency 102 |
|
Hepatomegaly, Partial absence of specific antibody response to unconjugated pneumococcus vaccine,... |
OMIM:301082 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Cervical l... |
OMIM:618987 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619707 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:611926 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Recurrent respiratory infections, Decreased circulating IgG level, B lymphocytopenia, T lymphocyt... |
OMIM:233650 |
Immunodeficiency 15A |
|
Acne inversa, Decreased proportion of CD8-positive T cells, Recurrent sinusitis, Decreased propor... |
OMIM:618204 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... |
OMIM:601859 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level, Erythroid hypoplasia |
OMIM:242880 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
Immunodeficiency 11 |
|
Decreased circulating antibody level |
OMIM:615206 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... |
OMIM:613493 |
Selective Igm Deficiency |
|
Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Otitis media, Rheuma... |
ORPHA:331235 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgA level, Recurrent otitis media, Decreased circulating IgG level, Decreas... |
OMIM:613502 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Prostatitis, Enteroviral dermatomyositis syndrome, Pyoderma, Enteroviral hepatitis, Re... |
OMIM:307200 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Lymphopenia, Splen... |
OMIM:617514 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L... |
OMIM:615285 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Skin rash... |
OMIM:618048 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:612692 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Schnitzler Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Skin rash, Arthritis, Increased circulating IgM level, ... |
ORPHA:37748 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... |
OMIM:616452 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Otitis media, Purulent rhinitis, Recurrent opportunistic infections, B lymphocytopenia, T lymphoc... |
OMIM:601457 |
Immunodeficiency 44 |
|
Decreased circulating IgA level, Lymphopenia, Abnormal circulating IgG level, Decreased circulati... |
OMIM:616636 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Skin rash, Decreas... |
OMIM:619924 |
Immunodeficiency 89 And Autoimmunity |
|
Crohn's disease, Reduced circulating interleukin 27 concentration, Elevated circulating C-reactiv... |
OMIM:619632 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Recurrent candida infections, Increased circulating antibody level, Decreased lymphocyte prolifer... |
ORPHA:169160 |
Immunodeficiency 50 |
|
Lymphopenia, Eczema, Recurrent urinary tract infections, Decreased circulating antibody level, Ne... |
OMIM:300988 |
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Cryoglobulinemia, Increased circulating beta-2-microglobulin level, Monoclonal immunoglobulin M p... |
ORPHA:209004 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Lymphopenia, Recurrent ... |
ORPHA:277 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... |
OMIM:614699 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... |
OMIM:605258 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis, Neutropenia |
OMIM:162700 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Par... |
OMIM:240500 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... |
OMIM:619824 |
Zika Virus Disease |
|
Skin rash, Maculopapular exanthema, Myelitis, Arthritis, Meningitis, Increased circulating IgM le... |
ORPHA:448237 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Follicular hyperplasia, Increased circulating IgG le... |
OMIM:603909 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased specific anti-polysaccharide antibody level, Sinusitis, Recurrent upper and lower respi... |
ORPHA:70593 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Elevated circulating C-reactive protein concentration, Absent isohemagglutinin level, Hepatomegal... |
OMIM:615559 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... |
OMIM:613495 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Aut... |
OMIM:614470 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent bacterial infections,... |
OMIM:613494 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Abnormal lymphocyte morphology |
OMIM:609529 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Colitis, Hepatomegaly, Folliculitis, Hemophagocytos... |
OMIM:300635 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Hemophagocytosis, Sp... |
OMIM:603553 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level, Lymphopenia, Glomerulonephritis, Plasmacytosis, Pneumonia, ... |
OMIM:247800 |
Secretory Component Deficiency |
|
Secretory IgA deficiency |
OMIM:269650 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt... |
OMIM:619281 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia |
OMIM:615214 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia |
OMIM:610798 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent infection of the gastrointestinal tract, Lymphadenitis, Recurrent opportunistic infecti... |
ORPHA:911 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Agamma... |
OMIM:613501 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... |
ORPHA:859 |
Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia, Recurrent infections, Recurrent otitis media, Agammaglobulinemia, Post-vaccina... |
OMIM:616941 |
X-Linked Lymphoproliferative Disease |
|
Increased circulating ferritin concentration, Hemophagocytosis, Cervical lymphadenopathy, Aplasti... |
ORPHA:2442 |
Immunoglobulin M, Level Of |
|
Decreased circulating total IgM |
OMIM:308250 |
Immunodeficiency 70 |
|
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Rec... |
OMIM:618969 |
Immunodeficiency 46 |
|
Chronic oral candidiasis, Sepsis, Meningitis, Decreased circulating antibody level, Intermittent ... |
OMIM:616740 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Immunodeficiency, Common Variable, 11 |
|
Crohn's disease, Decreased circulating IgG level, Inflammation of the large intestine, Decreased ... |
OMIM:615767 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Recurrent bacterial infections, Recurrent upper respiratory trac... |
OMIM:193670 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Crohn's disease, Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, H... |
OMIM:616100 |
Aspergillosis |
|
Keratitis, Sinusitis, Osteomyelitis, Unusual CNS infection, Invasive pulmonary aspergillosis, Eos... |
ORPHA:1163 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Cerebellar atrophy, Decreased circulating IgG level, Cerebral atrophy, Polymicrogyria |
OMIM:618973 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Arthritis, Recurrent pharyngitis, Infectious encephalitis, Lymphadeno... |
ORPHA:42642 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Colitis, Hemophagocytosis, Splenomegaly, Abnormal n... |
OMIM:613101 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Lymphadenitis, Abnormal B cell count, Recurrent viral infections, Abnormal T cell c... |
ORPHA:331206 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Severe varicella zoster infection, Decreased circulating antibody level, Recu... |
OMIM:618261 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent candida infections, Onychomycosis, Recurrent bacterial skin infections, Atopic dermatit... |
ORPHA:217390 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Sepsis, B lymphocytopenia, Pancytopenia, Monocytopenia, Severe varicella zoster in... |
OMIM:618986 |
Pgm3-Cdg |
|
Abnormal proportion of CD8-positive T cells, Eczema, Sepsis, Chronic sinusitis, Bone marrow hypoc... |
ORPHA:443811 |
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, Recurrent bacterial infections, B lymphocytopenia, T lymphocytopenia, Decreased circ... |
ORPHA:169079 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgA level, Neutrophilia, Elevated circulating C-reactive protein concentrat... |
OMIM:617099 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Increased LDL choles... |
OMIM:267700 |
Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Bronchiectasis, Recurrent viral infections, Absence of CD8-positi... |
OMIM:608957 |
Lymphoproliferative Syndrome 1 |
|
Increased circulating ferritin concentration, Decreased circulating IgG level, Elevated circulati... |
OMIM:613011 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG level, Lymphopenia, Re... |
OMIM:619510 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent gastroenteritis, Decreased circulating IgA level, R... |
ORPHA:275 |
Immunodeficiency 23 |
|
Lymphopenia, Eosinophilia, Abscess, Eczema, Increased circulating IgG level, Membranoproliferativ... |
OMIM:615816 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr... |
OMIM:611521 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati... |
ORPHA:572 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... |
OMIM:202700 |
Congenital Enterovirus Infection |
|
Leukocytosis, Hyperammonemia, Skin rash, Leukopenia, Sepsis, Cholestasis, Abnormal macrophage mor... |
ORPHA:292 |
Q Fever |
|
Hepatomegaly, Maculopapular exanthema, Myocarditis, Pneumonia, Pericarditis, Lymphadenopathy, Inc... |
ORPHA:781 |
Boutonneuse Fever |
|
Skin rash, Cervical lymphadenopathy, Maculopapular exanthema, Leukopenia, Increased circulating I... |
ORPHA:83313 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Decreased serum complement C8, Recurrent Neisserial infections |
OMIM:613789 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Lymphopen... |
OMIM:615934 |
Immunodeficiency 17 |
|
Recurrent gastroenteritis, Recurrent otitis media, Chronic oral candidiasis, Eczema, T lymphocyto... |
OMIM:615607 |
Legionnaires Disease |
|
Pancreatitis, Lymphopenia, Splenomegaly, Sepsis, Endocarditis, Myocarditis, Hepatitis, Recurrent ... |
ORPHA:549 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:617765 |
Immunodeficiency 104 |
|
Hepatomegaly, Otitis media, Splenomegaly, Eczema, Recurrent opportunistic infections, T lymphocyt... |
OMIM:608971 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... |
ORPHA:2585 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Herpes simplex encephalitis, Recurrent skin infections, Acne inversa, Sepsis, Recur... |
OMIM:233600 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Acute otitis media, Decreased lymphocyte proliferation in response to mi... |
ORPHA:35078 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc... |
OMIM:618394 |
Distal Osteosclerosis |
|
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis |
OMIM:126250 |
Immunodeficiency 92 |
|
Decreased circulating IgA level, Osteomyelitis, Decreased circulating IgG level, Lymphocytosis, L... |
OMIM:619652 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Decreased circulating IgA level, Increased proportion of gamma... |
OMIM:619774 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media, Lymphopenia, ... |
OMIM:600802 |
Bacterial Toxic-Shock Syndrome |
|
Sepsis, Abscess, Myocarditis, Severe viral infection, Elevated circulating creatinine concentrati... |
ORPHA:36234 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Hepatomeg... |
OMIM:617388 |
Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
Brucellosis |
|
Elevated circulating C-reactive protein concentration, Hepatomegaly, Myocarditis, Epididymitis, H... |
ORPHA:1304 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphopenia, Recurrent sinopulmonary infections, Absent specific antibody response, Follicular hy... |
OMIM:619846 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Decreased circulating IgA level, Sinusitis, T lymphocytopenia, Increased circulating IgM level, P... |
OMIM:242860 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Abnormal circulating IgG level, Recurrent bacterial infections, ... |
OMIM:300291 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
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Recurrent otitis media, Decreased circulating IgG level, Hepatomegaly, Hemophagocytosis, Splenome... |
OMIM:301078 |
Avian Influenza |
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Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Elevated circulat... |
ORPHA:454836 |
Complement Component 8 Deficiency, Type I |
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Meningitis, Decreased serum complement C8 |
OMIM:613790 |
Wiskott-Aldrich Syndrome |
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Eczema, Sepsis, Decreased mean platelet volume, Abnormal delayed hypersensitivity skin test, Decr... |
OMIM:301000 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
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Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Recurrent skin inf... |
OMIM:619752 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1 |
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Recurrent herpes, Herpes simplex encephalitis |
OMIM:610551 |
Tularemia |
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Increased circulating antibody level, Conjunctivitis, Leukocytosis, Abnormal nasopharyngeal adeno... |
ORPHA:3392 |
Mucopolysaccharidosis-Plus Syndrome |
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Hepatomegaly, Nephritis, Recurrent bronchopulmonary infections, Splenomegaly, Brain atrophy, Leuk... |
OMIM:617303 |
Immunodeficiency, Common Variable, 6 |
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Hepatomegaly, Decreased specific pneumococcal antibody level, Recurrent bacterial infections, Chr... |
OMIM:613496 |
Immunodeficiency 15B |
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Agammaglobulinemia, Decreased circulating antibody level |
OMIM:615592 |
Immunodeficiency 33 |
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Increased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... |
OMIM:300636 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... |
OMIM:602450 |
Immunoglobulin A Deficiency 1 |
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Decreased circulating IgA level |
OMIM:137100 |
Mu-Heavy Chain Disease |
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Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, ... |
ORPHA:100024 |
Autoinflammation With Infantile Enterocolitis |
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Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:616050 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism |
OMIM:183350 |
Autoimmune Lymphoproliferative Syndrome |
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Abnormal proportion of CD8-positive T cells, Hepatomegaly, Gastritis, Uveitis, Bone marrow hypoce... |
ORPHA:3261 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Eczema, B lymphocytopenia, Erythroderma, Recurrent viral infections, Decreased proportion of CD4+... |
OMIM:606367 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
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Bronchiectasis, Decreased circulating total IgM, Recurrent upper respiratory tract infections, Re... |
OMIM:615139 |
Thymic Aplasia |
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Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,... |
ORPHA:83471 |
Subacute Inflammatory Demyelinating Polyneuropathy |
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Severe infection, Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
Angiostrongyliasis |
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Unusual CNS infection, Increased circulating IgA level, Increased circulating IgG level, Increase... |
ORPHA:74 |
Immunodeficiency 57 With Autoinflammation |
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Gastritis, Skin rash, Recurrent respiratory infections, B lymphocytopenia, T lymphocytopenia, Inf... |
OMIM:618108 |
New-Onset Refractory Status Epilepticus |
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Abnormal circulating interleukin concentration, Global brain atrophy, Infectious encephalitis |
ORPHA:363558 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7 |
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Infectious encephalitis |
OMIM:616532 |
Microcephalic Primordial Dwarfism, Toriello Type |
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Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... |
ORPHA:2643 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Thyroiditis, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Inflammatory abno... |
ORPHA:391487 |
Lymphangiectasia, Intestinal |
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Neonatal hypoproteinemia, Intestinal lymphangiectasia, Decreased circulating IgG level, Lymphopenia |
OMIM:152800 |
Autoinflammatory Disease, Systemic, X-Linked |
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Osteomyelitis, Decreased circulating IgG level, Panuveitis, Optic neuritis, Decreased circulating... |
OMIM:301081 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
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Eczematoid dermatitis, Recurrent fungal infections, Skin rash, Eosinophilia, Chronic mucocutaneou... |
OMIM:147060 |
Rift Valley Fever |
|
Skin rash, Increased circulating IgG level, Severe viral infection, Hepatitis, Uveitis, Increased... |
ORPHA:319251 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Sepsis, B lymphocytopenia, Decreased specific antibody response to vaccination, Uveitis, Pneumoni... |
OMIM:614700 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Lymphopenia, Splenomegaly, Decreased circulating antibody level, Recurrent infections |
OMIM:605309 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Defective T cell proliferation, Candida esophagitis, Leukocytosis, Hypochromic anemia, Pancolitis... |
OMIM:618213 |
Autoimmune Hepatitis |
|
Increased circulating antibody level, Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular ca... |
ORPHA:2137 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Hepatomegaly, Absent specific antibody response, Severe B lymphocytopenia, B lymphocytopenia, Red... |
OMIM:102700 |
Scrub Typhus |
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Skin rash, Splenomegaly, Myocarditis, Anterior uveitis, Meningitis, Infectious encephalitis, Lymp... |
ORPHA:83317 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
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Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema... |
OMIM:617006 |
Leishmaniasis |
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Increased circulating antibody level, Hepatomegaly, Rhinitis, Splenomegaly, Leukopenia, Abnormal ... |
ORPHA:507 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Meningitis, Herpes simplex encephalitis |
OMIM:617900 |
Cirrhosis, Familial |
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Cirrhosis, Increased circulating antibody level, Hepatitis, Chronic active hepatitis |
OMIM:118900 |
Igg4-Related Aortitis |
|
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Comp... |
ORPHA:449400 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Osteomyelitis, Increased susceptibility to fractures, Diaphyseal cortical sclerosis |
OMIM:166260 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
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Leukocytosis, Splenomegaly, Intraalveolar phospholipid accumulation, Decreased circulating antibo... |
OMIM:618042 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
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Decreased circulating IgA level, Enterocolitis, Interstitial pneumonitis, Decreased circulating t... |
OMIM:614878 |
Immunodeficiency 69 |
|
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Skin rash, Hepatospleno... |
OMIM:618963 |
Purine Nucleoside Phosphorylase Deficiency |
|
Otitis media, Impaired T cell function, Recurrent opportunistic infections, Pneumonia, Recurrent ... |
OMIM:613179 |
Microcephalic Primordial Dwarfism, Toriello Type |
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Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... |
OMIM:251190 |
Immunodeficiency, Common Variable, 13 |
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Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia |
OMIM:616873 |
Typhoid |
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Hepatomegaly, Infectious encephalitis, Skin rash, Splenomegaly |
ORPHA:99745 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Sepsis, Chronic otitis media, Art... |
ORPHA:33110 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
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Keratitis, Eosinophilia, Eczema, Recurrent otitis media, Bronchiectasis, Increased circulating Ig... |
OMIM:618523 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
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Cerebral cortical atrophy, Hepatomegaly, Infectious encephalitis, Hyperammonemia |
ORPHA:1194 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Crohn's disease, Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytope... |
OMIM:619705 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Hypomagnesemia, Decreased circulating IgG level, Hypocalcemia, H... |
ORPHA:90362 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Meningitis, Herpes simplex encephalitis |
OMIM:613002 |
Chilblain Lupus |
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Increased circulating antibody level, Discoid lupus rash, Inflammatory abnormality of the skin, S... |
ORPHA:90280 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
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Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Decr... |
ORPHA:183675 |
L-2-Hydroxyglutaric Aciduria |
|
Infectious encephalitis |
ORPHA:79314 |
Crigler-Najjar Syndrome |
|
Jaundice, Infectious encephalitis, Abnormality of the liver |
ORPHA:205 |
Primary Biliary Cholangitis |
|
Onychomycosis, Recurrent fungal infections, Increased circulating IgA level, Abnormal circulating... |
ORPHA:186 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Lymphocytosis, Pustule, Skin rash, Eosinophilia, Interstitial pneumonitis, Myocarditis, Hepatitis... |
ORPHA:139402 |
Asthma, Short Stature, And Elevated Iga |
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Increased circulating IgA level |
OMIM:208600 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11 |
|
Viral encephalitis |
OMIM:619441 |
American Trypanosomiasis |
|
Hepatomegaly, Skin rash, Splenomegaly, Myocarditis, Infectious encephalitis, Lymphadenopathy |
ORPHA:3386 |
Whipple Disease |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Myositis, Myocarditis, Pericarditis, Art... |
ORPHA:3452 |
Immune Deficiency Disease |
|
Recurrent bacterial infections, Decreased circulating total IgM, Fulminant hepatitis, Cholangitis... |
OMIM:242850 |
Ige Responsiveness, Atopic |
|
Allergic rhinitis, Increased circulating IgE level, Eczema |
OMIM:147050 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Increased circulating antibody level, Sinusitis, Lymphopenia, Hepatomegaly, Panniculitis, Splenom... |
OMIM:617591 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Hepatomegaly, Micronodular cirrhosis, Jaundice, Decreased circulating antibody level, Recurrent i... |
OMIM:301045 |
Immunodeficiency 66 |
|
Defective T cell proliferation, Pustule, Recurrent skin infections, Sepsis, Meningitis |
OMIM:618847 |
Reticular Dysgenesis |
|
Skin rash, Leukopenia, Sepsis, Chronic otitis media, Abnormality of neutrophils, Decreased circul... |
ORPHA:33355 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Chronic gastritis, Colitis, Decreased circulating IgG level, Eczema, Corpus callosum atrophy, Inf... |
OMIM:608809 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Immunodeficiency, Common Variable, 10 |
|
Onychomycosis, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent oral h... |
OMIM:615577 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Hypocalcemia, Osteomyelitis, Skin rash, Sepsis, Abnormality of the lymphatic system, C... |
ORPHA:47 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:300861 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10 |
|
Herpes simplex encephalitis |
OMIM:619396 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6 |
|
Herpes simplex encephalitis |
OMIM:614850 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis |
OMIM:614892 |
Subacute Sclerosing Panencephalitis |
|
Infectious encephalitis |
OMIM:260470 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Eczema, Macrocytic anemia, Th... |
OMIM:617780 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Nephritis, Complement deficiency, Monoclonal elevation of circulating IgA, Membr... |
ORPHA:91139 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczema, Recurrent infections, Thyroiditis |
OMIM:618985 |
Nipah Virus Disease |
|
Recurrent pharyngitis, Infectious encephalitis |
ORPHA:99825 |
Listeriosis |
|
Unusual CNS infection, Sepsis, Abscess, Myocarditis, Pneumonia, Pericarditis, Jaundice, Septic ar... |
ORPHA:533 |
X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level, Recurrent respiratory infections |
ORPHA:2571 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level, Late onset atopic dermatitis |
OMIM:221700 |
Immunodeficiency 43 |
|
Decreased circulating IgG level, Hypoproteinemia, Hypoalbuminemia, Bronchiectasis, Recurrent resp... |
OMIM:241600 |
Kimura Disease |
|
Eosinophilia, Increased circulating IgE level, Follicular hyperplasia, Lymphadenopathy |
ORPHA:482 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased specific anti-polysaccharide antibody level, Sinusitis, Increased circulating IgA level... |
OMIM:600903 |
Japanese Encephalitis |
|
Increased circulating antibody level, Neutrophilia, Paucity of anterior horn motor neurons, Menin... |
ORPHA:79139 |
Van Buchem Disease |
|
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density |
OMIM:239100 |
Immunodeficiency 84 |
|
Splenomegaly, Recurrent bacterial infections, B lymphocytopenia, Perianal abscess, Persistent EBV... |
OMIM:619437 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Dysgammaglobulinemia, Anemia, Ascites, Lymphadenopathy |
ORPHA:100025 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating IgA level, Decreased circulating antibody level, Decreased serum creatinine... |
OMIM:617744 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Recurrent skin infections, Atrophic gastritis, Recurrent sinu... |
OMIM:616576 |
Immunodeficiency 67 |
|
Recurrent streptococcal infections, Recurrent staphylococcal infections, Increased circulating Ig... |
OMIM:607676 |
Meningococcal Meningitis |
|
Sepsis, Elevated circulating C-reactive protein concentration, Infectious encephalitis, Skin rash |
ORPHA:33475 |
Adult-Onset Still Disease |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Splenomegaly, ... |
ORPHA:829 |
Tick-Borne Encephalitis |
|
Unusual CNS infection, Elevated circulating C-reactive protein concentration, Leukocytosis, Leuko... |
ORPHA:297 |
Tempi Syndrome |
|
Increased hematocrit, Ascites, Polycythemia, Increased circulating IgG level |
ORPHA:284227 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Abnormal cytokine s... |
ORPHA:158048 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Conjunctivitis, Hemophagocytosis, Spl... |
OMIM:603552 |
Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Eczema, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Th... |
OMIM:618116 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Recurrent ot... |
ORPHA:444463 |
Coccidioidomycosis |
|
Unusual CNS infection, Pancreatitis, Abscess, Pneumonia, Pericarditis, Coccidioidal meningitis, L... |
ORPHA:228123 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Hyperbilirubinemia, Cirrhosis, Sclerosing cholangitis, Increased circu... |
ORPHA:562639 |
Lassa Fever |
|
Sepsis, Jaundice, Increased circulating IgM level, Conjunctivitis |
ORPHA:99824 |
Immunodeficiency 76 |
|
Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Re... |
OMIM:619164 |
Cerebral Visual Impairment |
|
Unusual CNS infection, Neurodegeneration, Meningitis, Infectious encephalitis, Central nervous sy... |
ORPHA:447788 |
Microsporidiosis |
|
Keratitis, Pancreatitis, Lymphadenitis, Sepsis, Myocarditis, Biliary tract abnormality, Pneumonia... |
ORPHA:2552 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent gastroenteritis, Hepatomegaly, Absence of lymph node germinal center, Panhypogammaglobu... |
ORPHA:79124 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent gastroenteritis, Decreased circulating IgG level, Brain atrophy, Hepatosplenomegaly, Le... |
ORPHA:505248 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Decreased circulating IgG level, Hypoalbuminemia, Hypoproteinemia, Neutropenia |
OMIM:600351 |
Cinca Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Skin rash, Eosinophilia, Hep... |
OMIM:607115 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Increased circulating antibody level, Crohn's disease, Pustule, Myositis, Arthritis, Increased in... |
ORPHA:69126 |
Bone Marrow Failure Syndrome 5 |
|
Anemia, Decreased circulating antibody level, Pure red cell aplasia |
OMIM:618165 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Pancreatitis, Complement deficiency, Lymph... |
ORPHA:449395 |
Isolated Agammaglobulinemia |
|
Sinusitis, Skin rash, Otitis media, Sepsis, Abnormality of the lymphatic system, Abnormal lymphoc... |
ORPHA:229717 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Arthralgia/arthritis |
ORPHA:411593 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Increased circulating interleukin 6 concentration, ... |
ORPHA:158061 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Decreased circulating antibody level, Hypoproteinemia, Lymphopenia |
ORPHA:1116 |
Panniculitis-Induced Localized Lipodystrophy |
|
Abnormal immunoglobulin level |
ORPHA:90159 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr... |
OMIM:607616 |
Lyme Disease |
|
Meningitis, Uveitis, Infectious encephalitis, Arthritis |
ORPHA:91546 |
Omenn Syndrome |
|
Recurrent fungal infections, Hepatomegaly, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasi... |
OMIM:603554 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Hepatomegaly, Skin rash, Splenomegaly |
OMIM:619175 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Skin rash, Abnormally low T cell receptor excisio... |
OMIM:619374 |
Hyper-Igd Syndrome |
|
Increased circulating IgA level, Neutrophilia, Leukocytosis, Splenomegaly, Chronic oral candidias... |
OMIM:260920 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent gastroenteritis, Gastritis, Eczema, Sepsis, Decreased prealbumin level, Pneumonia, Ecze... |
ORPHA:37042 |
Prolidase Deficiency |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Eczema, Recurrent pneumonia, Cr... |
OMIM:170100 |
Complement Component 4B Deficiency |
|
Chronic active hepatitis, Decreased serum complement C4b, Recurrent sinusitis, Meningitis, Recurr... |
OMIM:614379 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Eczematoid dermatitis, Lymphopenia, Recurrent bronchopulmonary infections, Aplasia of the thymus,... |
OMIM:242700 |
O'Sullivan-Mcleod Syndrome |
|
Atrophy of the spinal cord, Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... |
ORPHA:158057 |
Reynolds Syndrome |
|
Hepatomegaly, Skin rash, Cirrhosis, Arthritis, Infectious encephalitis, Keratoconjunctivitis sicc... |
ORPHA:779 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Coombs-positive hemolytic anemia, Severe infection, Eosinophilia, Eczema, Autoimmune thrombocytop... |
OMIM:304790 |
Netherton Syndrome |
|
Decreased circulating IgG level, Allergic rhinitis, Hypereosinophilia, Recurrent infections, Eryt... |
OMIM:256500 |
Palmoplantar Keratoderma, Epidermolytic |
|
Increased circulating IgE level |
OMIM:144200 |
Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Hyperproteinemia, Increased circulating IgG level,... |
ORPHA:29073 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level, Skin rash |
ORPHA:90000 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Lymph... |
ORPHA:508533 |
Acute Lung Injury |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:178320 |
Cysticercosis |
|
Increased circulating antibody level, Iridocyclitis, Infectious encephalitis |
ORPHA:1560 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Gm1 Gangliosidosis |
|
Splenomegaly, Aspiration pneumonia, Hepatosplenomegaly, Infectious encephalitis, Recurrent respir... |
ORPHA:354 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Crohn's disease, Onychomycosis, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Hepatosplenomeg... |
OMIM:618935 |
Glycoprotein Storage Disease |
|
Gout, Splenomegaly |
OMIM:232900 |
Immunodeficiency 47 |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Cholestasis, Hepatic bridging fibrosis, Prolonge... |
OMIM:300972 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Eczematoid dermatitis, Recurrent bacterial infections, Absent circulating B cells, Seborrheic der... |
OMIM:619693 |
Immunodeficiency 13 |
|
Lymphopenia, Recurrent upper respiratory tract infections, B lymphocytopenia, T lymphocytopenia, ... |
OMIM:615518 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bacterial infections, B lymphocytopenia, Panhypogammaglobulinem... |
OMIM:601495 |
Mevalonic Aciduria |
|
Fluctuating hepatomegaly, Morbilliform rash, Elevated circulating C-reactive protein concentratio... |
OMIM:610377 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia... |
OMIM:150550 |
Vici Syndrome |
|
Gray matter heterotopia, Decreased circulating IgG level, Recurrent fungal infections, Left ventr... |
OMIM:242840 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Elevated circulating C-reactive protein concentration, Skin rash, Leukocytosis, Splenomegaly, Art... |
OMIM:611762 |
Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Gastritis, B lymphocytopenia, Pneumonia, D... |
OMIM:619381 |
Pyoderma Gangrenosum |
|
Increased circulating antibody level, Pustule, Rheumatoid arthritis, Myeloid leukemia, Inflammati... |
ORPHA:48104 |
Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level |
OMIM:300076 |
Nocardiosis |
|
Keratitis, Thyroiditis, Unusual CNS infection, Osteomyelitis, Severe infection, Peritonitis, Lymp... |
ORPHA:31204 |
Igg4-Related Submandibular Gland Disease |
|
Increased circulating antibody level, Abnormal pancreas morphology, Prostatitis, Complement defic... |
ORPHA:449432 |
Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... |
ORPHA:221139 |
Insulin-Resistance Syndrome Type B |
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Increased circulating IgA level, Abnormal circulating fatty-acid concentration, Nephritis, Abnorm... |
ORPHA:2298 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
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Decreased circulating IgA level, Abnormal T cell morphology |
OMIM:215250 |
Neurocutaneous Melanocytosis |
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Abnormality of neuronal migration, Infectious encephalitis |
ORPHA:2481 |
Ebola Hemorrhagic Fever |
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Increased circulating antibody level, Lymphopenia, Maculopapular exanthema, Leukopenia, Sepsis, A... |
ORPHA:319218 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Increased circulating interleukin 8 concentration, Elevated circulating C-reactive protein concen... |
OMIM:256040 |
Trimethylaminuria |
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Anemia, Neutropenia, Recurrent pneumonia, Splenomegaly |
OMIM:602079 |
Transcobalamin Ii Deficiency |
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Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:275350 |
Riddle Syndrome |
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Decreased circulating IgG level |
OMIM:611943 |
Zygomycosis |
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Pancreatitis, Gastritis, Acute infectious pneumonia, Myocarditis, Pericarditis, Unusual skin infe... |
ORPHA:73263 |
Whim Syndrome |
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Sinusitis, Lymphopenia, Otitis media, Lymphadenitis, Sepsis, Recurrent bacterial infections, Seve... |
ORPHA:51636 |
C3 Glomerulopathy |
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Decreased serum complement C3, Decreased serum complement C4, Membranoproliferative glomeruloneph... |
ORPHA:329918 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... |
OMIM:233710 |
Felty Syndrome |
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Hepatomegaly, Sepsis, Bone marrow hypocellularity, Pericarditis, Rhinitis, Lymphadenopathy, Splen... |
ORPHA:47612 |
Sézary Syndrome |
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Hepatomegaly, Splenomegaly, Abnormal immunoglobulin level, Erythroderma, Abnormal lymphocyte morp... |
ORPHA:3162 |
Common Variable Immunodeficiency |
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Lymphopenia, Splenomegaly, Otitis media, Autoimmune thrombocytopenia, Chronic otitis media, Hemol... |
ORPHA:1572 |
Pneumocystosis |
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Increased circulating antibody level, Chronic oral candidiasis, Interstitial pneumonitis, Acute i... |
ORPHA:723 |
Congenital Disorder Of Glycosylation, Type Iil |
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Decreased specific anti-polysaccharide antibody level, Hepatomegaly, Cerebral atrophy, Splenomega... |
OMIM:614576 |
Igg4-Related Pachymeningitis |
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Sinusitis, Pancreatitis, Elevated circulating C-reactive protein concentration, Nephritis, Comple... |
ORPHA:449427 |
Peeling Skin Syndrome 1 |
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Erythroderma, Eosinophilia, Increased circulating IgE level |
OMIM:270300 |
Acquired Idiopathic Sideroblastic Anemia |
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Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... |
ORPHA:75564 |
Neuronal Intestinal Pseudoobstruction |
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Decreased circulating antibody level |
ORPHA:99811 |
Griscelli Syndrome |
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Hepatomegaly, Splenomegaly, Abnormal circulating lipid concentration, Leukopenia, Abnormality of ... |
ORPHA:381 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... |
OMIM:233690 |
Ataxia-Telangiectasia |
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Decreased circulating IgA level, Sinusitis, Decreased circulating IgG level, Lymphopenia, Elevate... |
OMIM:208900 |
Progressive Multifocal Leukoencephalopathy |
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Decreased proportion of CD8-positive T cells, Meningitis, Abnormal proportion of CD4-positive T c... |
ORPHA:217260 |
Encephalopathy Due To Prosaposin Deficiency |
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Hepatomegaly, Recurrent respiratory infections, Splenomegaly |
ORPHA:139406 |
Immunodeficiency 68 |
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Recurrent skin infections, Lymphadenitis, Abscess, Sepsis, B lymphocytopenia, T lymphocytopenia, ... |
OMIM:612260 |
Primary Sclerosing Cholangitis |
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Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Uveitis, Jaundice, S... |
ORPHA:171 |
Yellow Fever |
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Increased circulating interleukin 6 concentration, Hyperbilirubinemia, Neutrophilia, Leukocytosis... |
ORPHA:99829 |
Okur-Chung Neurodevelopmental Syndrome |
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Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... |
OMIM:617062 |
Osteosclerosis With Ichthyosis And Fractures |
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Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density |
OMIM:166740 |
Immunodeficiency 32B |
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Sinusitis, Splenomegaly, Recurrent infections, Pneumonia, Bronchiectasis, Recurrent respiratory i... |
OMIM:226990 |
Neonatal Alloimmune Neutropenia |
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Neutropenia in presence of anti-neutropil antibodies, Severe infection, Sepsis, Meningitis, Pneum... |
ORPHA:464370 |
Immunodeficiency 56 |
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Recurrent infection of the gastrointestinal tract, Chronic hepatitis due to cryptosporidium infec... |
OMIM:615207 |
Waldenström Macroglobulinemia |
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Hepatomegaly, Splenomegaly, Cryoglobulinemia, Normocytic anemia, Abnormality of neutrophils, Recu... |
ORPHA:33226 |
Cystic Echinococcosis |
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Increased circulating antibody level, Unusual infection, Cholestatic liver disease, Hepatomegaly,... |
ORPHA:400 |
Hartnup Disease |
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Infectious encephalitis, Skin rash |
ORPHA:2116 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
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Lymphopenia, Abnormally low T cell receptor excision circle level, Decreased circulating antibody... |
OMIM:619767 |
Interstitial Lung Disease 2 |
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Increased circulating antibody level, Cirrhosis |
OMIM:178500 |
Idiopathic Chronic Eosinophilic Pneumonia |
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Elevated circulating C-reactive protein concentration, Leukocytosis, Atopic dermatitis, Hypereosi... |
ORPHA:2902 |
Vici Syndrome |
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Gray matter heterotopia, Decreased circulating IgG level, Cerebral cortical atrophy, Recurrent in... |
ORPHA:1493 |
Cinca Syndrome |
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Elevated circulating C-reactive protein concentration, Hepatomegaly, Leukocytosis, Splenomegaly, ... |
ORPHA:1451 |
Crimean-Congo Hemorrhagic Fever |
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Hepatomegaly, Neutrophilia, Hemoperitoneum, Myocarditis, Thrombocytopenia, Epididymitis, Pancytop... |
ORPHA:99827 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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Hepatomegaly, Splenomegaly, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism, Increas... |
OMIM:610539 |
Osteopetrosis, Autosomal Recessive 7 |
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Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Dec... |
OMIM:612301 |
Adult Acute Respiratory Distress Syndrome |
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Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:70578 |
Behçet Disease |
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Optic neuritis, Pancreatitis, Orchitis, Splenomegaly, Endocarditis, Myositis, Keratoconjunctiviti... |
ORPHA:117 |
Complement Factor B Deficiency |
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Decreased serum complement factor B, Recurrent bacterial infections, Peritonitis, Recurrent menin... |
OMIM:615561 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
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Abnormal hemoglobin, Cerebral cortical atrophy, Recurrent urinary tract infections, Infectious en... |
ORPHA:847 |
Inflammatory Pseudotumor Of The Liver |
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Abnormal liver sonography, Neoplasm of the liver, Increased hepatitis B virus antibody level, Cir... |
ORPHA:90003 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Increased circulating ferritin concentration, Decreased lymphocyte proliferation in response to a... |
OMIM:619313 |
Vulvovaginal Gingival Syndrome |
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Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Postinfectious Vasculitis |
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Recurrent streptococcus pneumoniae infections, Elevated circulating C-reactive protein concentrat... |
ORPHA:48435 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
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Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
Bloom Syndrome |
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Recurrent gastroenteritis, Cheilitis, Abnormal proportion of CD8-positive T cells, Otitis media, ... |
ORPHA:125 |
Indolent Systemic Mastocytosis |
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Abnormal mast cell morphology, Hepatomegaly, Skin rash, Splenomegaly, Maculopapular exanthema, Ma... |
ORPHA:98848 |
Glut1 Deficiency Syndrome 2 |
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Cerebral atrophy, Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis |
OMIM:612126 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Elevated circulating C-reactive protein concentration, Hepatomegaly, Eczema, Pancytopenia, Bone m... |
OMIM:615688 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
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Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Hep... |
OMIM:615234 |
Good Syndrome |
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Abnormal leukocyte morphology, Thymoma, Sinusitis, Recurrent skin infections, Recurrent urinary t... |
ORPHA:169105 |
Adult-Onset Nemaline Myopathy |
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Mildly elevated creatine kinase, Paraproteinemia |
ORPHA:171442 |
Gaucher Disease Type 1 |
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Increased circulating antibody level, Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Osteoart... |
ORPHA:77259 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Decreased mean corpuscular volume, Hepatocellular necrosis, Decreased circulating IgG level, Hepa... |
OMIM:618278 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
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Hepatomegaly, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbumin... |
OMIM:619868 |
Aregenerative Anemia |
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Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, E... |
ORPHA:101096 |
Hyperbilirubinemia, Shunt, Primary |
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Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Reticulocytosis,... |
OMIM:237800 |
Complement Factor I Deficiency |
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Decreased serum complement factor H, Recurrent streptococcus pneumoniae infections, Decreased ser... |
OMIM:610984 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Increased circulating IgA level, Myositis, Increased circulating IgG4 level, Retroperitoneal fibr... |
ORPHA:79078 |
Poliomyelitis |
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Meningitis, Absent tonsils, Myelitis, Infectious encephalitis |
ORPHA:2912 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
Iga Pemphigus |
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Increased circulating IgA level, Pustule, Eosinophilia, Monoclonal elevation of circulating IgA, ... |
ORPHA:555905 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
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Recurrent mycobacterial infections, Recurrent fungal infections, Hepatomegaly, Splenomegaly, Seps... |
ORPHA:169090 |
Trichothiodystrophy 3, Photosensitive |
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Increased circulating IgA level, Lymphopenia, Abdominal adhesions, Recurrent infections, Neutropenia |
OMIM:616395 |
Secondary Intestinal Lymphangiectasia |
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Decreased circulating IgA level, Reduced circulating transferrin concentration, Lymphopenia, Cirr... |
ORPHA:90363 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
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Increased circulating IgE level |
ORPHA:1858 |
Leukocyte Adhesion Deficiency, Type Iii |
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Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... |
OMIM:612840 |
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome |
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Generalized osteoporosis, Osteoporosis |
OMIM:601220 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
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Increased circulating IgE level |
ORPHA:89843 |
Hemochromatosis, Type 2B |
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Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibr... |
OMIM:613313 |
Congenital Disorder Of Glycosylation, Type Iio |
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Cholestatic liver disease, Hepatomegaly, Prolonged neonatal jaundice, Increased LDL cholesterol c... |
OMIM:616828 |
Incontinentia Pigmenti |
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Keratitis, Cerebral cortical atrophy, Skin rash, Eosinophilia, Uveitis, Infectious encephalitis |
ORPHA:464 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
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Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Cholestasis, Conjugated hyperbilirubinemia, Jaund... |
OMIM:620010 |
Deafness-Lymphedema-Leukemia Syndrome |
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Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Chronic otitis media, Abno... |
ORPHA:3226 |
Caffey Disease |
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Increased circulating antibody level |
ORPHA:1310 |
Netherton Syndrome |
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Skin rash, Eczema, Decreased circulating antibody level, Recurrent infections, Erythroderma, Incr... |
ORPHA:634 |
Autosomal Dominant Hyper-Ige Syndrome |
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Osteomyelitis, Skin rash, Eosinophilia, Eczema, Chronic otitis media, Recurrent infections, Incre... |
ORPHA:2314 |
Alpha-1-Antitrypsin Deficiency |
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Reduced serum alpha-1-antitrypsin, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Bronchiectasis |
OMIM:613490 |
Hemoglobin D Disease |
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Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Granulomatous Disease, Chronic, X-Linked |
|
Discoid lupus rash, Hepatomegaly, Lymphadenitis, Rectal abscess, Eczematoid dermatitis, Osteomyel... |
OMIM:306400 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
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Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... |
OMIM:619375 |
Hepatoportal Sclerosis |
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Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa... |
ORPHA:64743 |
Alg12-Cdg |
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Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... |
ORPHA:79324 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
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Erythroderma, Blepharitis, Increased circulating IgE level, Pustule |
OMIM:614328 |
Fusariosis |
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Keratitis, Onychomycosis, Unusual CNS infection, Maculopapular exanthema, Pneumonia, Osteomyeliti... |
ORPHA:228119 |
Dyskeratosis Congenita, Digenic |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:620040 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level |
OMIM:615190 |
Hypotrichosis Simplex Of The Scalp |
|
Allergic rhinitis, Increased circulating IgE level, Atopic dermatitis |
ORPHA:90368 |
Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Meningitis, Lymphadenop... |
ORPHA:545 |
Congenital Analbuminemia |
|
Increased circulating antibody level, Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, ... |
ORPHA:86816 |
Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Brain atrophy, Hemophagocytosis, Increased proporti... |
ORPHA:167 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Erysipelas, Conjugated hyperbilirubinemia,... |
OMIM:214900 |
Chediak-Higashi Syndrome |
|
Periodontitis, Recurrent bacterial skin infections, Hepatomegaly, Hemophagocytosis, Splenomegaly,... |
OMIM:214500 |
Hemochromatosis, Type 2A |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Arthritis, I... |
OMIM:602390 |
Acute Disseminated Encephalomyelitis |
|
Optic neuritis, Viral hepatitis, Herpes simplex encephalitis, Myelitis, Disseminated viral infect... |
ORPHA:83597 |
Igg4-Related Ophthalmic Disease |
|
Keratitis, Sinusitis, Prostatitis, Elevated circulating C-reactive protein concentration, Pancrea... |
ORPHA:449563 |
Amoebiasis Due To Free-Living Amoebae |
|
Unusual skin infection, Sinusitis, Pustule, Increased red blood cell count, Infectious encephalit... |
ORPHA:68 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy |
ORPHA:66661 |
Hermansky-Pudlak Syndrome 2 |
|
Enlarged platelet dense granules, Periodontitis, Hepatomegaly, Chronic oral candidiasis, Recurren... |
OMIM:608233 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Defective production of NFKB1-dependent cytokines, Recurrent infection of the gastrointestinal tr... |
OMIM:612132 |
Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level, Rheumatoid arthritis, Pustule |
ORPHA:48377 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Interstitial pneumonitis, Sep... |
ORPHA:231154 |
Igg4-Related Thyroid Disease |
|
Hypocalcemia, Pancreatic fibrosis, Sclerosing cholangitis, Increased circulating IgG4 level, Retr... |
ORPHA:64744 |
Scedosporiosis |
|
Unusual skin infection, Opportunistic fungal infection, Sinusitis, Osteomyelitis, Unusual CNS inf... |
ORPHA:449280 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
Xq28 (MECP2) duplication |
|
Decreased circulating IgA level |
DECIPHER:45 |
Babesiosis |
|
Hepatomegaly, Splenomegaly, Leukopenia, Hemolytic anemia, Recurrent pharyngitis, Recurrent infect... |
ORPHA:108 |
Nijmegen Breakage Syndrome |
|
Sinusitis, Recurrent infection of the gastrointestinal tract, Otitis media, Recurrent urinary tra... |
OMIM:251260 |
Sepsis In Premature Infants |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
ORPHA:90051 |
Aicardi-Goutieres Syndrome 7 |
|
Increased circulating ferritin concentration, Increased circulating antibody level, Hepatomegaly,... |
OMIM:615846 |
Chronic Granulomatous Disease |
|
Sinusitis, Hepatomegaly, Splenomegaly, Otitis media, Eczema, Sepsis, Mediastinal lymphadenopathy,... |
ORPHA:379 |
Riddle Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Otitis media, Elevated alpha-fe... |
ORPHA:420741 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Skin rash, Splenomegaly, Complement deficiency, Recurrent bacterial infections, Art... |
ORPHA:36412 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Hemophagocytosis, Compl... |
ORPHA:470 |
Primary Sjögren Syndrome |
|
Chronic active hepatitis, Complement deficiency, Decreased serum complement C4, Lymphadenopathy, ... |
ORPHA:289390 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Liver Failure, Infantile, Transient |
|
Hepatomegaly, Decreased circulating IgG level, Hyperbilirubinemia, Microvesicular hepatic steatos... |
OMIM:613070 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:618852 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... |
OMIM:618398 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Abnormality of the lymph nod... |
ORPHA:54251 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Hep... |
OMIM:616860 |
Leukocyte Adhesion Deficiency |
|
Otitis media, Sepsis, Severe periodontitis, Impaired platelet aggregation, Pneumonia, Bone marrow... |
ORPHA:2968 |
Chikungunya |
|
Skin rash, Cervical lymphadenopathy, Maculopapular exanthema, Arthritis, Infectious encephalitis,... |
ORPHA:324625 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Increased circulating IgA level, Hepatomegaly, Peritonitis, Arthritis, Recurrent aphthous stomati... |
ORPHA:343 |
Familial Mediterranean Fever |
|
Crohn's disease, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosi... |
OMIM:249100 |
Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Recurrent viral infections, Lymphadenopathy, Reduced natural killer c... |
OMIM:609981 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Elevated circulating C-reactive protein concentration, Hepatomegaly, Skin rash, Splenomegaly, Juv... |
ORPHA:85414 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Recurrent upper respiratory tract infections, Decreased proportion of CD4-p... |
ORPHA:66628 |
Thrombocytopenia 1 |
|
Increased circulating IgA level, Eczema, Congenital thrombocytopenia, Decreased mean platelet vol... |
OMIM:313900 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... |
OMIM:266200 |
Mannosidosis, Alpha B, Lysosomal |
|
Cerebral cortical atrophy, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Recurrent bacteria... |
OMIM:248500 |
Immunoglobulin A Vasculitis |
|
Orchitis, Pustule, Skin rash, Arthritis, Infectious encephalitis, Episcleritis |
ORPHA:761 |
Leukocyte Adhesion Deficiency Type Ii |
|
Keratitis, Recurrent gastroenteritis, Abnormal isohemagglutinin level, Neutrophilia, Leukocytosis... |
ORPHA:99843 |
Burkitt Lymphoma |
|
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Decreased... |
ORPHA:543 |
Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187950 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Recurrent upper respiratory tract infections, Decreased proportion of CD4-p... |
ORPHA:179494 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Cerebral atrophy, Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia,... |
OMIM:616084 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Cystic Fibrosis |
|
Decreased circulating antibody level |
ORPHA:586 |
Sitosterolemia 1 |
|
Episodic hemolytic anemia, Stomatocytosis, Splenomegaly, Anemia, Arthritis, Impaired platelet agg... |
OMIM:210250 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Hyperammonemia, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:79312 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Decreased circulating IgA level, Hepatomegaly, Splenomegaly, Hepatitis, Hashimoto thyroiditis, Po... |
OMIM:613385 |