Specific Granule Deficiency 1 |
|
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne... |
OMIM:245480 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired ne... |
OMIM:618986 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Hep... |
OMIM:615285 |
Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... |
OMIM:619374 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Immunodeficiency 51 |
|
Pneumonia, Folliculitis, Cutaneous abscess, Eczematoid dermatitis, Chronic mucocutaneous candidia... |
OMIM:613953 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, BCGitis, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency 108 With Autoinflammation |
|
Recurrent aphthous stomatitis, Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuc... |
OMIM:260570 |
Immunodeficiency 32B |
|
Pneumonia, Recurrent infections, BCGitis, Impaired oxidative burst, Abnormal circulating IgG leve... |
OMIM:226990 |
Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Immunodeficiency 53 |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent urinary tract infect... |
OMIM:617585 |
Immunodeficiency 104 |
|
Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Failure to thrive secondary ... |
OMIM:608971 |
Immunodeficiency 48 |
|
Pneumonia, Pneumocystis carinii pneumonia, Eczematoid dermatitis, Recurrent candida infections, P... |
OMIM:269840 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired ... |
OMIM:607594 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... |
OMIM:619126 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... |
OMIM:615513 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Persistent CMV viremia, Fluctuating splenomegaly, Increased circulating IgG level, Recurrent otit... |
OMIM:619220 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Sepsis, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocy... |
OMIM:612840 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Persistent CMV viremia, Recurrent viral infections, Decreased specific anti-polysaccharide antibo... |
OMIM:300853 |
Combined Immunodeficiency, X-Linked |
|
Pneumonia, Pneumocystis carinii pneumonia, Abnormal T cell count, Decreased circulating IgG level... |
OMIM:312863 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media... |
OMIM:266265 |
Severe Combined Immunodeficiency, X-Linked |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgE, Reduc... |
OMIM:300400 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphadenitis, Eczemat... |
OMIM:618935 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Recurrent infections, Herpes simplex encephalitis, Recurrent otitis media, Molluscum contagiosum,... |
OMIM:618982 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Disseminated mollu... |
OMIM:617638 |
Immunodeficiency 62 |
|
Decreased proportion of memory B cells, Recurrent upper respiratory tract infections, Decreased c... |
OMIM:618459 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato... |
OMIM:233710 |
Immunodeficiency 52 |
|
Persistent CMV viremia, Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphop... |
OMIM:617514 |
Caspase 8 Deficiency |
|
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Decre... |
OMIM:607271 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Recurrent tonsillitis, Recurrent otitis media, Decreased circulating antibody level, S... |
ORPHA:397596 |
Trimethylaminuria |
|
Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia |
OMIM:602079 |
Immunodeficiency 84 |
|
Splenomegaly, Perianal abscess, B lymphocytopenia, Recurrent bacterial infections, Persistent EBV... |
OMIM:619437 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, Atopic dermatitis, Recurrent upper respirat... |
OMIM:618806 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Pneumonia, Recurrent infections, Recurrent pneumonia, Decreased circulating IgG level, Hepatitis,... |
ORPHA:169160 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato... |
OMIM:233690 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Chronic tinea infection, Increased circulating IgE level, Hypereosinophilia, Abnormal B cell coun... |
OMIM:212050 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis, Decreased circulating total IgM, Hepatomegaly, Recurrent infections |
OMIM:606445 |
Immunodeficiency 88 |
|
BCGosis, Eosinophilia |
OMIM:619630 |
Eosinophilia, Familial |
|
Leukocytosis, Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Anemia |
OMIM:131400 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod... |
OMIM:247800 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Otitis ... |
OMIM:601457 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Osteomyeliti... |
OMIM:608184 |
Immunodeficiency 109 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co... |
OMIM:620282 |
Immunodeficiency 116 |
|
Recurrent viral infections, Absence of CD8-positive T cells, Recurrent bacterial infections, Recu... |
OMIM:608957 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func... |
OMIM:240500 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... |
OMIM:616452 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Respir... |
ORPHA:444463 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Recurrent infections, Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating a... |
OMIM:614470 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Klebsiella infections, Lymphadenitis, Hepatomegaly, Discoid lupus rash, Granuloma, Ecze... |
OMIM:306400 |
Glycoprotein Storage Disease |
|
Gout, Splenomegaly |
OMIM:232900 |
Isolated Agammaglobulinemia |
|
Pneumonia, Sepsis, Recurrent respiratory infections, Abnormal lymphocyte morphology, Otitis media... |
ORPHA:229717 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess... |
OMIM:150550 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Recurrent bacterial infecti... |
OMIM:202700 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Pneumonia, Atopic dermatitis, Chronic otitis media, Recurrent viral infections, Recurrent candida... |
ORPHA:217390 |
Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Recurrent respir... |
OMIM:614699 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Cholecystitis, Splenomegaly, No... |
OMIM:613470 |
Eosinophilopenia |
|
Allergic rhinitis, Decreased eosinophil count |
OMIM:131430 |
Immunodeficiency 102 |
|
Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent lower respiratory tr... |
OMIM:301082 |
Immunodeficiency 69 |
|
Hemophagocytosis, BCGitis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Skin ras... |
OMIM:618963 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Inflammation of the large intestine, Psoriasiform dermatitis, Hepatomegaly, Recurrent lower respi... |
ORPHA:436159 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Abnormal lymph node morphology, Decreased proportion o... |
ORPHA:911 |
Immunodeficiency 76 |
|
Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, Lymphadenopathy, B lymph... |
OMIM:619164 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology, Abnormal pleura morphology |
ORPHA:724 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Recurrent upper respiratory tract infections, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly,... |
OMIM:613101 |
Immunodeficiency 7 |
|
Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegal... |
OMIM:615387 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... |
OMIM:613500 |
Indolent Systemic Mastocytosis |
|
Mastocytosis, Increased proportion of CD25+ mast cells, Skin rash, Splenomegaly, Lymphadenopathy,... |
ORPHA:98848 |
Alpha-Thalassemia |
|
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... |
ORPHA:846 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Sepsis, Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in prese... |
ORPHA:231154 |
Neonatal Alloimmune Neutropenia |
|
Pneumonia, Sepsis, Jaundice, Severe infection, Neutropenia in presence of anti-neutropil antibodi... |
ORPHA:464370 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... |
OMIM:618534 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Recurrent infections, Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemopha... |
OMIM:300635 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
Myelofibrosis |
|
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... |
OMIM:254450 |
Immunodeficiency 18 |
|
Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno... |
OMIM:615615 |
Immunodeficiency 13 |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Lympho... |
OMIM:615518 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,... |
OMIM:613494 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia |
OMIM:613978 |
Lymphoproliferative Syndrome 2 |
|
Recurrent pneumonia, Sepsis, Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Panc... |
OMIM:615122 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnormal... |
ORPHA:276 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent viral infections, Ch... |
OMIM:614868 |
Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Persistent CMV viremia, Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4... |
OMIM:618495 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:613502 |
Leukocyte Adhesion Deficiency |
|
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... |
ORPHA:2968 |
Immunodeficiency 42 |
|
Recurrent aphthous stomatitis, Splenomegaly, Hypoplasia of the thymus, Recurrent cutaneous fungal... |
OMIM:616622 |
Omenn Syndrome |
|
Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent bacterial infections, Hypoplasia o... |
OMIM:603554 |
Shwachman-Diamond Syndrome |
|
Recurrent viral infections, Aplastic anemia, Pancytopenia, Impaired neutrophil chemotaxis, Acute ... |
ORPHA:811 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Recurrent respiratory infections, Pancytopenia, Abnormal macrophag... |
ORPHA:2585 |
Immunodeficiency 27A |
|
Pneumonia, Increased circulating IgG level, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Incre... |
OMIM:209950 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Recur... |
OMIM:193670 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Recurrent pneumonia, Decreased circulating antibody level, Autoimmune hemolyt... |
OMIM:616576 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Pneumonia, Recurrent upper respiratory trac... |
OMIM:602450 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... |
ORPHA:824 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:66661 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Pneumonia, Recurrent mycobacterial infections, Recurrent Klebsiella infections, Lymphadenitis, Re... |
ORPHA:319552 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Meningitis, Chronic otitis media, Eczematoid dermatitis, Opportunistic inf... |
ORPHA:83471 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent infections, Reduced natural killer cell count, Panhypogammaglobulinemia, Abnormal T cel... |
OMIM:615214 |
Juvenile Temporal Arteritis |
|
Allergic rhinitis, Conjunctivitis, Eosinophilia, Leukocytosis |
ORPHA:26137 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function |
ORPHA:231393 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Decreased circulating IgG level, Recurrent upper respiratory tract infections, Pneumoc... |
OMIM:614069 |
Allergic Bronchopulmonary Aspergillosis |
|
Emphysema, Abnormal eosinophil morphology, Bronchiectasis |
ORPHA:1164 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... |
OMIM:603902 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly |
ORPHA:139406 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... |
OMIM:614700 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent viral infections, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... |
ORPHA:169154 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Allergic rhinitis, Recurrent viral infections, Recurrent otitis media, Molluscum contagiosum, Inc... |
OMIM:243700 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased proportion of memory B cells, Decreased circulating IgG level, Bronchiectasis, Pancytop... |
OMIM:618394 |
Microlissencephaly |
|
Pneumonia, Polymicrogyria, Periventricular heterotopia, Pachygyria, Subcortical heterotopia, Liss... |
ORPHA:1083 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Recurrent viral infect... |
OMIM:242700 |
Immunodeficiency 25 |
|
Recurrent pneumonia, Recurrent candida infections, Increased circulating IgE level, Complete or n... |
OMIM:610163 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Pneumonia, Recurrent viral infections, Aplastic anemia, Periodontitis, Lymphopenia, Recurrent aph... |
ORPHA:486 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph... |
OMIM:308240 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections... |
OMIM:616100 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Abnormal pulmonary ... |
OMIM:607616 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Partial absence of specific antibody respon... |
OMIM:619824 |
Immunodeficiency 92 |
|
Pneumonia, Persistent CMV viremia, Decreased circulating IgG level, Partial absence of specific a... |
OMIM:619652 |
Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect... |
OMIM:616005 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Cyclic Neutropenia |
|
Sepsis, Periodontitis, Opportunistic infection, Recurrent tonsillitis, Cervical lymphadenopathy, ... |
ORPHA:2686 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:612692 |
Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... |
OMIM:133180 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... |
OMIM:619802 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent infections, Atopic dermatitis, Recurrent pneumonia, Cutaneous abscess, Eczematoid derma... |
OMIM:618282 |
Necrobiosis Lipoidica |
|
Abnormality of neutrophil physiology, Inflammatory abnormality of the skin, Granuloma |
ORPHA:542592 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular osteomyelitis, Extramedullary hematopoiesis, Osteomyelitis, Hepatosplenomegaly, Pancyt... |
OMIM:259710 |
Felty Syndrome |
|
Synovitis, Neutropenia, Recurrent pharyngitis, Hepatomegaly, Chronic otitis media, Abnormal lymph... |
ORPHA:47612 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections |
|
Atopic dermatitis, Recurrent viral infections, Increased circulating IgE level, Eosinophilic infi... |
OMIM:620532 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... |
ORPHA:183675 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Recurrent enteroviral infections, Lymphopenia, Hepatos... |
ORPHA:331206 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Bone marrow hypocellularity, Pneumocystis jirovecii pneumonia, Decreased circulating IgG level, H... |
OMIM:301078 |
Hereditary Spherocytosis |
|
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... |
ORPHA:822 |
Selective Igm Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce... |
ORPHA:331235 |
Chediak-Higashi Syndrome |
|
Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegal... |
OMIM:214500 |
Tularemia |
|
Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad... |
ORPHA:3392 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Splenomegaly, ... |
ORPHA:169090 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Enteroviral encephalitis, Cirrhosis, Increased circulating IgA level, Neutropenia, Hepatomegaly, ... |
OMIM:308230 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Splenomegaly, Skin rash, Hepatomegaly, Jaundice, Lymphadenopathy, Thrombocytope... |
OMIM:603552 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Skin rash, Hepatomegaly, Splenomegaly |
OMIM:619175 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... |
ORPHA:75564 |
Immunodeficiency 115 With Autoinflammation |
|
Decreased circulating IgG level, Recurrent viral infections, Eczematoid dermatitis, Intestinal ly... |
OMIM:620632 |
Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Reduced natural killer cell count, Partial absence of specif... |
OMIM:618108 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia, Arthritis, Abnormal pleura morphology |
ORPHA:2582 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Recurrent viral infections, Increased circulating IgE level... |
OMIM:102700 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pne... |
OMIM:619281 |
Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... |
OMIM:237800 |
Purine Nucleoside Phosphorylase Deficiency |
|
Pneumonia, Recurrent upper respiratory tract infections, Recurrent viral infections, Impaired T c... |
OMIM:613179 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Pneumonia, Abnormal T cell count, Recurrent enteroviral infections, Enteroviral dermatomyositis s... |
OMIM:307200 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent enteroviral infections, Panhypogammaglobulinemia, Recurrent otitis... |
OMIM:601495 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Er... |
ORPHA:231222 |
Complement Factor B Deficiency |
|
Pneumonia, Recurrent meningococcal disease, Peritonitis, Recurrent bacterial infections, Meningitis |
OMIM:615561 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly |
OMIM:618852 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly, Hepatomegal... |
OMIM:620296 |
Agammaglobulinemia, X-Linked |
|
Enteroviral dermatomyositis syndrome, Recurrent otitis media, Lymph node hypoplasia, Prostatitis,... |
OMIM:300755 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Keratitis, Eczematoid dermatitis, Recurrent otitis media, Increased circulating IgE level, Eosino... |
OMIM:618523 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Immunodeficiency 56 |
|
Recurrent infections, Recurrent pneumonia, Pneumocystis jirovecii pneumonia, Panhypogammaglobulin... |
OMIM:615207 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... |
OMIM:619375 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer ... |
OMIM:600802 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Recurrent viral infections, Hepatosplenomegaly, Hepatic cysts, Colonic eosinop... |
OMIM:618999 |
Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... |
OMIM:613011 |
Melioidosis |
|
Pneumonia, Unusual skin infection, Brain abscess, Cutaneous abscess, Foot osteomyelitis, Hepatiti... |
ORPHA:31202 |
Immunodeficiency 10 |
|
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,... |
OMIM:612783 |
Autoimmune Lymphoproliferative Syndrome |
|
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic ane... |
OMIM:601859 |
Felty Syndrome |
|
Rheumatoid arthritis, Splenomegaly, Neutropenia |
OMIM:134750 |
Kimura Disease |
|
Increased circulating IgE level, Eosinophilia, Follicular hyperplasia, Lymphadenopathy |
ORPHA:482 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Fasciitis, Myositis, Eosinophilia, Arthritis |
ORPHA:3165 |
Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... |
ORPHA:231226 |
Slc35A1-Cdg |
|
Pneumonia, Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Thrombocytopenia, N... |
ORPHA:238459 |
C1Q Deficiency 2 |
|
Discoid lupus rash, Pneumocystis carinii pneumonia, Sepsis, Atelectasis, Recurrent otitis media, ... |
OMIM:620321 |
Young Syndrome |
|
Bronchiectasis, Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Rec... |
OMIM:279000 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Recurrent upper respiratory tract infections, Eczematoid dermatitis, Exocrine pancreatic insuffic... |
OMIM:615952 |
Ciliary Dyskinesia, Primary, 41 |
|
Recurrent otitis media, Immotile sperm, Bronchiectasis, Recurrent sinusitis |
OMIM:618449 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Intraalveolar phospholipid accumulation, Leukocytosis, Splenomegaly, Recurrent respiratory infect... |
OMIM:618042 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Omenn Syndrome |
|
Pneumonia, Sepsis, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosi... |
ORPHA:39041 |
Ciliary Dyskinesia, Primary, 46 |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Reduced sperm motility, Bronchi... |
OMIM:619436 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Increased mean corpuscular volume, Extramedullary hematopoiesis, Ascites, Sideroblastic anemia, E... |
OMIM:617021 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
Immunodeficiency 40 |
|
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Inters... |
OMIM:616433 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
Chédiak-Higashi Syndrome |
|
Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Recurre... |
ORPHA:167 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
ORPHA:517 |
Scedosporiosis |
|
Pneumonia, Unusual CNS infection, Unusual skin infection, Sepsis, Bronchitis, Invasive fungal inf... |
ORPHA:449280 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decrease... |
OMIM:614878 |
Alpha-1-Antitrypsin Deficiency |
|
Splenomegaly, Chronic bronchitis, Cirrhosis, Panacinar emphysema, Bronchiectasis, Hepatocellular ... |
OMIM:613490 |
Ciliary Dyskinesia, Primary, 33 |
|
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,... |
OMIM:616726 |
Congenital Syphilis |
|
Pneumonia, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Synovitis, Prolonged neon... |
ORPHA:499009 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis, Maculopapular exanthema |
ORPHA:157991 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Recurrent viral infections, Recurrent enteroviral infecti... |
ORPHA:79124 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Atopic dermatitis, Reduced natural killer cell count, Recurrent upper respiratory tract infection... |
OMIM:619752 |
Beta-Thalassemia Major |
|
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... |
ORPHA:231214 |
Sandhoff Disease |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly |
ORPHA:796 |
Aspergillosis |
|
Pneumonia, Unusual CNS infection, Keratitis, Hepatitis, Increased circulating IgE level, Osteomye... |
ORPHA:1163 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent pneumonia, Polysplenia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis... |
OMIM:615482 |
Autosomal Agammaglobulinemia |
|
Recurrent infections, Bronchiectasis, Sepsis, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulin... |
ORPHA:33110 |
Ciliary Dyskinesia, Primary, 9 |
|
Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro... |
OMIM:612444 |
Immunodeficiency 89 And Autoimmunity |
|
Increased circulating IgG level, Increased circulating IgE level, Crohn's disease, Increased circ... |
OMIM:619632 |
Cinca Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Lymphadenopathy, Arthritis, Anemia, Me... |
OMIM:607115 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphade... |
ORPHA:100024 |
Mounier-Kühn Syndrome |
|
Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections |
ORPHA:3347 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Follicular hyperplasia, Increased circulating IgA level, Hepatomegaly, Autoimmune thrombocytopeni... |
OMIM:603909 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Spl... |
OMIM:620210 |
Aggressive Systemic Mastocytosis |
|
Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of C... |
ORPHA:98850 |
Whim Syndrome |
|
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Seps... |
ORPHA:51636 |
Fusariosis |
|
Abnormality of the spleen, Lymphopenia, Neutropenia, Unusual CNS infection, Granuloma, Osteomyeli... |
ORPHA:228119 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Pachygyria, Polymicrogyria, Aspiration pneumonia |
OMIM:609528 |
Immunodeficiency 77 |
|
Recurrent tonsillitis, Bronchiectasis, Cutaneous abscess, Nontuberculous mycobacterial pulmonary ... |
OMIM:619223 |
Common Variable Immunodeficiency |
|
Pneumonia, Bronchiectasis, Emphysema, Lymphopenia, Abnormality of the liver, Decreased circulatin... |
ORPHA:1572 |
Alpha-Heavy Chain Disease |
|
Ascites, Splenomegaly, Hepatomegaly, Dysgammaglobulinemia, Lymphadenopathy, Anemia |
ORPHA:100025 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... |
OMIM:615631 |
Ciliary Dyskinesia, Primary, 21 |
|
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis |
OMIM:615294 |
Pgm3-Cdg |
|
Allergic rhinitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Increased circulating IgE ... |
ORPHA:443811 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... |
OMIM:615139 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Extramedullary hematopoiesis, Cholestasis, Hepatic steatosis, Prolonged neo... |
ORPHA:79303 |
Say-Barber-Miller Syndrome |
|
Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating antibody level, Tra... |
ORPHA:3132 |
Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... |
OMIM:187950 |
Good Syndrome |
|
Thymoma, Aplasia/Hypoplasia of the thymus, Recurrent urinary tract infections, Decreased circulat... |
ORPHA:169105 |
Chronic Granulomatous Disease |
|
Sepsis, Eczematoid dermatitis, Recurrent respiratory infections, Splenomegaly, Otitis media, Hepa... |
ORPHA:379 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Pfapa Syndrome |
|
Splenomegaly, Infectious encephalitis, Lymphadenopathy, Arthritis, Recurrent pharyngitis, Hepatom... |
ORPHA:42642 |
Pneumocystosis |
|
Pneumocystis jirovecii pneumonia, Interstitial pneumonitis, Pleural effusion, Increased circulati... |
ORPHA:723 |
Follicular Lymphoma |
|
Pleural effusion, Splenomegaly, Lymphadenopathy, Abnormal peritoneum morphology, Meningitis, Medi... |
ORPHA:545 |
Staphylococcal Necrotizing Pneumonia |
|
Pneumonia, Sepsis, Leukopenia, Leukocytosis, Pleural effusion, Pneumothorax, Severe infection, Ac... |
ORPHA:36238 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... |
ORPHA:766 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Chronic otitis media, Lissencephaly |
OMIM:619466 |
Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice |
OMIM:224100 |
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Recurrent infections, Bronchiectasis, Decreased proportion of CD4-positive T cells |
ORPHA:477814 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decreased FOXP3-expressing T c... |
OMIM:304790 |
Immunodeficiency 43 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... |
OMIM:241600 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Decreased circulating antibody level, Bronchiectasis, Atelectasis |
OMIM:615872 |
Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Neutrophilia, Minimal change glomerulonephritis, Recurrent viral infections, Intraalveolar phosph... |
OMIM:620565 |
Ciliary Dyskinesia, Primary, 14 |
|
Recurrent pneumonia, Polysplenia, Otitis media, Chronic bronchitis, Chronic sinusitis, Immotile s... |
OMIM:613807 |
Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
Sarcoidosis, Susceptibility To, 2 |
|
Mediastinal lymphadenopathy, Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, Erythema no... |
OMIM:612387 |
Ciliary Dyskinesia, Primary, 23 |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi... |
OMIM:615451 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,... |
OMIM:619705 |
Idiopathic Bronchiectasis |
|
Emphysema, Respiratory tract infection, Recurrent Haemophilus influenzae infections, Acute infect... |
ORPHA:60033 |
Schnitzler Syndrome |
|
Leukocytosis, Skin rash, Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia, Increase... |
ORPHA:37748 |
Immunodeficiency 12 |
|
Recurrent viral infections, Recurrent aphthous stomatitis, Complete or near-complete absence of s... |
OMIM:615468 |
Immunodeficiency 23 |
|
Allergic rhinitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Molluscum contagiosu... |
OMIM:615816 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Recurrent otitis media, Chronic sinusitis, Recurrent sinusitis,... |
OMIM:615504 |
Gaucher Disease Type 2 |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly |
ORPHA:77260 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Cirrhosis, H... |
OMIM:616860 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h... |
OMIM:235700 |
Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis |
OMIM:154800 |
Aicardi-Goutieres Syndrome 6 |
|
Chilblains, Splenomegaly, Thrombocytopenia, Hepatomegaly, Hemolytic anemia |
OMIM:615010 |
Babesiosis |
|
Leukopenia, Splenomegaly, Thrombocytopenia, Recurrent pharyngitis, Hepatomegaly, Jaundice, Recurr... |
ORPHA:108 |
Ciliary Dyskinesia, Primary, 39 |
|
Recurrent otitis media, Recurrent lower respiratory tract infections, Bronchiectasis |
OMIM:618254 |
Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell count, Diffuse alveolar hemorrhage, Reduced natural killer cell activ... |
OMIM:616050 |
Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis |
OMIM:618695 |
Gamma-Heavy Chain Disease |
|
Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, ... |
ORPHA:100026 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Recurrent aphthous stomatitis, Leukocytosis, Skin rash, Splenomegaly, Lymphadenopathy, Arthritis,... |
OMIM:611762 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... |
ORPHA:3226 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
Immunodeficiency 114, Folate-Responsive |
|
Atopic dermatitis, Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia,... |
OMIM:620603 |
Tracheobronchomegaly |
|
Recurrent bronchopulmonary infections, Bronchiectasis |
OMIM:275300 |
Hemophagocytic Syndrome Associated With An Infection |
|
Histoplasmosis, Hemophagocytosis, Invasive fungal infection, Severe viral infection, Invasive par... |
ORPHA:158048 |
Immunodeficiency 54 |
|
Reduced natural killer cell count, Recurrent viral infections, Splenomegaly, Lymphadenopathy, Hep... |
OMIM:609981 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
|
Abnormality of exocrine pancreas physiology, Bronchiectasis, Recurrent bronchiolitis, Chronic bro... |
OMIM:613021 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... |
ORPHA:37042 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hepatomegaly, Abnormality of neuronal migration, Splenomegaly, Aplasia/Hypoplasia of the lungs |
ORPHA:2204 |
Idiopathic Achalasia |
|
Recurrent aspiration pneumonia, Bronchitis |
ORPHA:930 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Splenomegaly |
OMIM:619462 |
Leishmaniasis |
|
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Increased circulating ant... |
ORPHA:507 |
Osteopetrosis, Autosomal Recessive 3 |
|
Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis |
OMIM:259730 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
Osteopetrosis, Autosomal Recessive 5 |
|
Extramedullary hematopoiesis, Ascites, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomega... |
OMIM:259720 |
Netherton Syndrome |
|
Allergic rhinitis, Decreased circulating IgG level, Sepsis, Eczematoid dermatitis, Increased circ... |
OMIM:256500 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis, Erythroderma |
ORPHA:280785 |
Hereditary Folate Malabsorption |
|
Recurrent urinary tract infections, Pancytopenia, Decreased circulating antibody level, Eosinophi... |
ORPHA:90045 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma |
ORPHA:882 |
Spondylometaphyseal Dysplasia, Axial |
|
Recurrent pneumonia, Splenomegaly, Reduced sperm motility |
OMIM:602271 |
Ciliary Dyskinesia, Primary, 3 |
|
Recurrent otitis media, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis |
OMIM:608644 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphopenia, Splenomegaly, Skin rash, Increased circulating antibody level, Myositis, Sinusitis, ... |
OMIM:617591 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis |
OMIM:620032 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:610539 |
Bacterial Toxic-Shock Syndrome |
|
Abscess, Glomerulonephritis, Meningitis, Recurrent skin infections, Osteomyelitis, Myositis, Peri... |
ORPHA:36234 |
Muscular Hypertonia, Lethal |
|
Pneumonia |
OMIM:254120 |
Bronchiectasis With Or Without Elevated Sweat Chloride 3 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613071 |
Ciliary Dyskinesia, Primary, 11 |
|
Recurrent sinusitis, Chronic bronchitis, Chronic rhinitis, Reduced sperm motility, Recurrent resp... |
OMIM:612649 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Absent natural ... |
ORPHA:35078 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy... |
ORPHA:158029 |
Graft Versus Host Disease |
|
Pneumonia, Inflammatory abnormality of the skin, Hemophagocytosis, Fasciitis, Acute hepatitis, He... |
ORPHA:39812 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Recurrent respiratory infections, Bronchiectasis, Chronic otitis media, Recurrent sinusitis |
OMIM:300991 |
Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt... |
OMIM:619463 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
Q Fever |
|
Hepatosplenomegaly, Increased circulating antibody level, Hepatomegaly, Meningitis, Endocarditis,... |
ORPHA:781 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia, Esophagitis |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia, Esophagitis |
OMIM:613412 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Pneumonia, Reduced natural killer cell count, Decreased circulating IgA level, Chronic bronchitis... |
OMIM:242860 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia |
ORPHA:721 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Allergic rhinitis, Exocrine pancreatic insufficiency, Skin rash, Splenomegaly, Anemia of inadequa... |
OMIM:612714 |
Ciliary Dyskinesia, Primary, 44 |
|
Bronchiectasis, Otitis media, Recurrent sinusitis |
OMIM:618781 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega... |
ORPHA:158057 |
Immunodeficiency 58 |
|
Allergic rhinitis, Molluscum contagiosum, Esophagitis, Recurrent cutaneous abscess formation, Chr... |
OMIM:618131 |
Prolidase Deficiency |
|
Recurrent pneumonia, Eczematoid dermatitis, Splenomegaly, Increased circulating antibody level, C... |
OMIM:170100 |
Immunodeficiency 65, Susceptibility To Viral Infections |
|
Recurrent viral infections, Stomatitis, Bronchiectasis, Recurrent gastroenteritis |
OMIM:618648 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine, Microcytic a... |
ORPHA:906 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly |
OMIM:614480 |
Roifman Syndrome |
|
Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Splenomegaly, Eosinophilia, L... |
OMIM:616651 |
Roifman Syndrome |
|
Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Hepatosplenomegaly, Eosinophi... |
ORPHA:353298 |
Atelis Syndrome 1 |
|
Eczematoid dermatitis, Leukopenia, Glue ear, Thrombocytopenia, Anemia, Recurrent infections, Bron... |
OMIM:620184 |
Ciliary Dyskinesia, Primary, 28 |
|
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... |
OMIM:615505 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Bronchiectasis, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis... |
OMIM:244400 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Reduced sperm motility... |
OMIM:615500 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Splenomegaly, Hepatomegaly, Cirrhosis, Anemia |
OMIM:613313 |
Ciliary Dyskinesia, Primary, 12 |
|
Chronic otitis media, Chronic sinusitis, Chronic rhinitis, Immotile sperm, Reduced sperm motility... |
OMIM:612650 |
Bronchiolitis Obliterans |
|
Pneumonia, Bronchiolitis obliterans, Bronchiectasis, Respiratory tract infection |
ORPHA:1303 |
Isolated Congenital Hypoglossia/Aglossia |
|
Aspiration pneumonia |
ORPHA:141152 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Anemia, Ascites, Splenomegaly, Aplasia/Hypoplasia of the lungs |
ORPHA:1046 |
Ciliary Dyskinesia, Primary, 51 |
|
Recurrent sinusitis, Chronic rhinitis, Reduced progressive sperm motility, Reduced sperm motility... |
OMIM:620438 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi... |
OMIM:608647 |
Classic Mycosis Fungoides |
|
Eczematoid dermatitis, Abnormal lymphocyte morphology, Skin rash, Splenomegaly, Lymphadenopathy, ... |
ORPHA:2584 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Alpha-Mannosidosis, Adult Form |
|
Pneumonia, Hepatosplenomegaly, Pancytopenia, Recurrent gastroenteritis, Recurrent infections |
ORPHA:309288 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Sideroblastic anemia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, Elevated h... |
OMIM:615234 |
Chronic Beryllium Disease |
|
Mediastinal lymphadenopathy, Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial ... |
ORPHA:133 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Abnormally low T cell receptor excision circle level, Eosinophilia, Recurrent infections |
OMIM:618092 |
Cystic Echinococcosis |
|
Cholestatic liver disease, Peritoneal abscess, Pulmonary cyst, Unusual infection, Invasive parasi... |
ORPHA:400 |
Immunodeficiency 31C |
|
Recurrent infections, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Lymphopenia, Oste... |
OMIM:614162 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia, Pericarditis |
ORPHA:163596 |
Adult-Onset Still Disease |
|
Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Skin rash, Interstitial pneum... |
ORPHA:829 |
Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system |
OMIM:271500 |
Cholestasis-Lymphedema Syndrome |
|
Erysipelas, Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice |
OMIM:214900 |
Ciliary Dyskinesia, Primary, 34 |
|
Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis, Immotile sperm, Bronchiectasis |
OMIM:617091 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hemophagocytosis, Pancytopenia, Splenomegaly, Anemia, Panniculitis |
OMIM:618398 |
Ciliary Dyskinesia, Primary, 35 |
|
Recurrent pneumonia, Abdominal situs ambiguus, Chronic sinusitis, Chronic rhinitis, Chronic otiti... |
OMIM:617092 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Eosinophilia, L... |
ORPHA:139402 |
X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly |
ORPHA:75563 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S... |
OMIM:266200 |
Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Recurrent pneumonia, Periodontitis, Enlarged platelet dense gr... |
OMIM:608233 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Pneumonia, Brain abscess, Intraalveolar phospholipid accumulation, Lung abscess, Recurrent respir... |
OMIM:610910 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:79312 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:185020 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... |
OMIM:619446 |
Wiskott-Aldrich Syndrome |
|
Inflammation of the large intestine, Decreased proportion of CD8-positive T cells, Lymphopenia, R... |
OMIM:301000 |
Ciliary Dyskinesia, Primary, 43 |
|
Recurrent upper respiratory tract infections, Abdominal situs inversus, Chronic sinusitis, Chroni... |
OMIM:618699 |
Mhc Class I Deficiency 1 |
|
Bronchiolitis, Bronchiectasis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otitis... |
OMIM:604571 |
Griscelli Syndrome Type 2 |
|
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice |
ORPHA:79477 |
Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Th... |
ORPHA:848 |
Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent pneumonia, Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Immotile sper... |
OMIM:613808 |
Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
Ciliary Dyskinesia, Primary, 45 |
|
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis |
OMIM:618801 |
Hyper-Igd Syndrome |
|
Lymphadenitis, Molluscum contagiosum, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Skin rash, ... |
OMIM:260920 |
Cinca Syndrome |
|
Leukocytosis, Splenomegaly, Inflammatory abnormality of the eye, Hepatomegaly, Lymphadenopathy, A... |
ORPHA:1451 |
Ciliary Dyskinesia, Primary, 17 |
|
Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br... |
OMIM:614679 |
Spherocytosis, Type 4 |
|
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:612653 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Punctate keratitis, Keratoconjuncti... |
OMIM:617388 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Pleural effusion, Skin rash, Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis, Juvenile rhe... |
ORPHA:85414 |
Spherocytosis, Type 2 |
|
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:616649 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul... |
ORPHA:64743 |
Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, ... |
OMIM:257200 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep... |
OMIM:616278 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased circulating total IgG, Pustular rash, Recurrent otitis media, Follicular hyperplasia, R... |
OMIM:619381 |
Avian Influenza |
|
Pneumonia, Myelitis, Sepsis, Hepatitis, Lymphopenia, Leukopenia, Pleural effusion, Infectious enc... |
ORPHA:454836 |
Amyloidosis, Hereditary Systemic 2 |
|
Skin rash, Hepatomegaly, Cholestasis, Splenomegaly |
OMIM:105200 |
Fgfr2-Related Bent Bone Dysplasia |
|
Hepatosplenomegaly, Extramedullary hematopoiesis |
ORPHA:313855 |
Bloom Syndrome |
|
Severe toxoplasmosis, Abscess, Abnormal proportion of CD8-positive T cells, Acute myeloid leukemi... |
ORPHA:125 |
Ciliary Dyskinesia, Primary, 24 |
|
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis |
OMIM:615481 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Cirrhosis, Hepatomeg... |
ORPHA:79301 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:182900 |
Brucellosis |
|
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Hepatome... |
ORPHA:1304 |
Rigid Spine Syndrome |
|
Pneumonia |
ORPHA:97244 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia |
OMIM:615085 |
Primary Ciliary Dyskinesia |
|
Recurrent mycobacterial infections, Abnormal sperm motility, Bronchiectasis, Polysplenia, Atelect... |
ORPHA:244 |
Neonatal Lupus Erythematosus |
|
Aplastic anemia, Pancytopenia, Malar rash, Abnormality of the liver, Splenomegaly, Skin rash, Hep... |
ORPHA:398124 |
Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... |
OMIM:603903 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Recurrent infection of the gastrointestinal tract, Splenomegaly, Cirrhosis, Hepatomegaly, Recurre... |
OMIM:613489 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Myositis, Eosinophilia |
OMIM:253600 |
Griscelli Syndrome |
|
Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm... |
ORPHA:381 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Cholestatic liver disease, Hemophagocytosis, Reduced natural killer cell activity, Decreased circ... |
ORPHA:540 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... |
OMIM:224120 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Hepatosplenomegaly, Neutropenia, Hepatomegaly, Recurrent lower respiratory tract inf... |
OMIM:612541 |
Ciliary Dyskinesia, Primary, 32 |
|
Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br... |
OMIM:616481 |
Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Eosinophilia, Erythroderma |
OMIM:270300 |
Familial Nasal Acilia |
|
Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Chronic rhinitis, B... |
ORPHA:922 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc... |
OMIM:194380 |
Sézary Syndrome |
|
Abnormal lymphocyte morphology, Abnormal pleura morphology, Splenomegaly, Abnormal immunoglobulin... |
ORPHA:3162 |
Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... |
ORPHA:3202 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Rhinitis, Abnormality of the tonsils, Splenomegaly |
ORPHA:93476 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
Elliptocytosis 1 |
|
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis |
OMIM:611804 |
Legionnaires Disease |
|
Bone marrow hypocellularity, Sepsis, Hepatitis, Lymphopenia, Abnormal pleura morphology, Splenome... |
ORPHA:549 |
Tracheobronchopathia Osteochondroplastica |
|
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec... |
ORPHA:3348 |
Macrophage Activation Syndrome |
|
Hemophagocytosis, Hepatitis, Splenomegaly, Increased inflammatory response, Hepatomegaly, Lymphad... |
ORPHA:158061 |
Eosinophilic Gastroenteritis |
|
Allergic rhinitis, Atopic dermatitis, Ascites, Leukocytosis, Eosinophilia, Anemia |
ORPHA:2070 |
Ciliary Dyskinesia, Primary, 13 |
|
Recurrent otitis media, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis |
OMIM:613193 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice |
OMIM:619658 |
Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
|
Abnormality of exocrine pancreas physiology, Bronchiectasis, Chronic bronchitis |
OMIM:211400 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Atopic dermatitis, Atelectasis, Increased circulating IgE level, Hypereosinophilia, Leukocytosis,... |
ORPHA:2902 |
Harderoporphyria |
|
Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia |
OMIM:618892 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Nodular regenerative hyperplasia of liver, Usual interstitial pneumonia, Increased mean corpuscul... |
OMIM:620367 |
Farber Lipogranulomatosis |
|
Hepatomegaly, Splenomegaly, Arthritis, Lipogranulomatosis |
OMIM:228000 |
Tafro Syndrome |
|
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Pleural effusion, Hepatomegaly, Lymphade... |
ORPHA:457077 |
Ciliary Dyskinesia, Primary, 7 |
|
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis |
OMIM:611884 |
Osteopetrosis, Autosomal Dominant 3 |
|
Anemia, Hepatomegaly, Splenomegaly |
OMIM:618107 |
Mixed Connective Tissue Disease |
|
Mediastinal lymphadenopathy, Leukopenia, Pleuritis, Splenomegaly, Skin rash, Myositis, Hepatomega... |
ORPHA:809 |
Hereditary Orotic Aciduria |
|
Anemia, Recurrent respiratory infections, Splenomegaly, Impaired T cell function |
ORPHA:30 |
Hypocomplementemic Urticarial Vasculitis |
|
Emphysema, Ascites, Episcleritis, Pleural effusion, Splenomegaly, Skin rash, Recurrent bacterial ... |
ORPHA:36412 |
Riddle Syndrome |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Bron... |
ORPHA:420741 |
Acute Generalized Exanthematous Pustulosis |
|
Cholestasis, Predominantly dermal neutrophilic infiltrate, Leukocytosis, Pustule, Eosinophilic de... |
ORPHA:293173 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Autoimmune hemolytic anemia, Myositis, Lymphadenopathy, Hepatomegaly, Panniculitis |
OMIM:619183 |
Wolman Disease |
|
Ascites, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells |
ORPHA:75233 |
Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis... |
OMIM:615444 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... |
OMIM:185000 |
Ciliary Dyskinesia, Primary, 19 |
|
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... |
OMIM:614935 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... |
ORPHA:3261 |
Microsporidiosis |
|
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke... |
ORPHA:2552 |
Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Skin rash, Splenomegaly, Lymphadenopathy, Hepatomegaly |
ORPHA:391 |
Bronchogenic Cyst |
|
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Chronic in... |
ORPHA:2357 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Simplified gyral pattern, Bronchiectasis, Neutropenia, Aspiration pneumonia |
OMIM:618253 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Sepsis, Atelectasis, Respiratory tract infection, Pulmonary edema |
ORPHA:70587 |
Erythrocytosis, Familial, 1 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... |
OMIM:133100 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent viral infections, Se... |
ORPHA:293978 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Mycobacterium abscessus abscessus infection, Disseminated nontuberculous mycobacterial infection,... |
ORPHA:411703 |
Listeriosis |
|
Arteritis, Abscess, Pustule, Meningitis, Jaundice, Endocarditis, Unusual CNS infection, Unusual s... |
ORPHA:533 |
Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Recurrent infections, Eczematoid dermatitis, Atelectasis, Increased circulating IgE level, Osteom... |
ORPHA:2314 |
Cold Agglutinin Disease |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
Interstitial Lung Disease 1 |
|
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele... |
OMIM:619611 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteomyelitis, Splenomegaly, Abscess, Skin rash, Pustule, Neutrophilia, Hepatomegaly, Pulmonary f... |
OMIM:612852 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hemophagocytosis, Reduced natural killer cell activity, Leukopenia, Hepatosplenomegaly, Pancytope... |
OMIM:603553 |
Coccidioidomycosis |
|
Abnormality of the spleen, Morbilliform rash, Abscess, Erythema nodosum, Pleural empyema, Unusual... |
ORPHA:228123 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Splenomegaly |
ORPHA:66518 |
Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Reduced h... |
ORPHA:79126 |
Poikiloderma With Neutropenia |
|
Recurrent pneumonia, Recurrent otitis media, Leukopenia, Splenomegaly, Recurrent sinusitis, Skin ... |
OMIM:604173 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Leukocytosis, Splenomegaly, Synovitis, Pustu... |
ORPHA:77297 |
Postinfectious Vasculitis |
|
Inflammatory abnormality of the skin, Increased circulating antibody level, Increased circulating... |
ORPHA:48435 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... |
OMIM:619849 |
Mirage Syndrome |
|
Sepsis, Aspiration pneumonia, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Recurr... |
OMIM:617053 |
X-Linked Centronuclear Myopathy |
|
Pneumonia, Recurrent respiratory infections |
ORPHA:596 |
Iga Pemphigus |
|
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul... |
ORPHA:555905 |
Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Eosinoph... |
OMIM:158310 |
Shigellosis |
|
Pneumonia, Sepsis, Microangiopathic hemolytic anemia, Ulcerative colitis, Cholestasis, Leukocytos... |
ORPHA:810 |
Nocardiosis |
|
Lymphadenitis, Scleritis, Meningitis, Endocarditis, Unusual CNS infection, Cutaneous abscess, Ost... |
ORPHA:31204 |
Congenital Pulmonary Lymphangiectasia |
|
Ascites, Hepatomegaly, Pleural effusion, Splenomegaly |
ORPHA:2414 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
Acute Lung Injury |
|
Pneumonia, Diffuse alveolar hemorrhage, Sepsis, Abnormal pulmonary interstitial morphology, Acute... |
ORPHA:178320 |
Autoimmune Hepatitis |
|
Inflammation of the large intestine, Increased circulating IgG level, Ascites, Splenomegaly, Scle... |
ORPHA:2137 |
Mucopolysaccharidosis-Plus Syndrome |
|
Bone marrow hypocellularity, Nephritis, Recurrent pneumonia, Sepsis, Leukopenia, Splenomegaly, He... |
OMIM:617303 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... |
OMIM:610913 |
Familial Mediterranean Fever |
|
Erysipelas, Leukocytosis, Splenomegaly, Pleural effusion, Crohn's disease, Orchitis, Peritonitis,... |
OMIM:249100 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia, Increased circulating antibody level |
ORPHA:99965 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Eczematoid de... |
ORPHA:391487 |
Scrub Typhus |
|
Skin rash, Splenomegaly, Infectious encephalitis, Lymphadenopathy, Myocarditis, Meningitis, Anter... |
ORPHA:83317 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Lymphopenia, T lymphocytopenia, Recurren... |
OMIM:607944 |
Nephronophthisis 19 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... |
OMIM:616217 |
Timothy Syndrome |
|
Pneumonia, Recurrent infections, Cardiomegaly, Bronchitis |
OMIM:601005 |
Idiopathic Pulmonary Fibrosis |
|
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Honeycomb lung, Abnormal pulmo... |
ORPHA:2032 |
Immunodeficiency 47 |
|
Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Decreased circu... |
OMIM:300972 |
Immunodeficiency 49 |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Psoriasiform dermatitis, Pulmo... |
OMIM:617237 |
Macrocephaly/Autism Syndrome |
|
Recurrent otitis media, Lymphopenia, Splenomegaly, Hepatomegaly, Recurrent infections, Decreased ... |
OMIM:605309 |
Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,... |
OMIM:278000 |
Gaucher Disease, Type I |
|