Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Recurrent infections, Splenomegaly, Increased circ... |
OMIM:615285 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Sepsis, Severe varicella zoster infection, Neutropenia, Chronic bronchitis, Hepatosplenomegaly, P... |
OMIM:618986 |
Specific Granule Deficiency 1 |
|
Recurrent bacterial infections, Absent neutrophil lactoferrin, Absent neutrophil specific granule... |
OMIM:245480 |
Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... |
OMIM:619374 |
Immunodeficiency 48 |
|
Hepatomegaly, Eczematoid dermatitis, Pneumonia, Splenomegaly, Panhypogammaglobulinemia, Recurrent... |
OMIM:269840 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level, BCGitis |
OMIM:619549 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Hepatomegaly, Eczema, Recurrent opportunistic infections, Pneumonia, Lymphadenopathy, Failure to ... |
OMIM:608971 |
Immunodeficiency 11 |
|
Recurrent respiratory infections, Decreased circulating antibody level, Pneumonia |
OMIM:615206 |
Immunodeficiency 51 |
|
Eczema, Folliculitis, Pustule, Chronic furunculosis, Pneumonia, Recurrent bronchitis, Chronic ora... |
OMIM:613953 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Immunodeficiency 88 |
|
Eosinophilia, Asthma, BCGosis |
OMIM:619630 |
Immunodeficiency, Common Variable, 1 |
|
Recurrent bacterial infections, B lymphocytopenia, Hepatomegaly, Decreased proportion of class-sw... |
OMIM:607594 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Atopic dermatitis, Eosinophilia, Asthma, Pneumonia |
OMIM:617638 |
Immunodeficiency 32B |
|
Sinusitis, Pneumonia, Bronchiectasis, Recurrent infections, Splenomegaly, Recurrent respiratory i... |
OMIM:226990 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Leukocytosis, Hepatomegaly, Sepsis, Epistaxis, Anemia, Abnormalit... |
OMIM:612840 |
Immunodeficiency 75 |
|
Decreased proportion of class-switched memory B cells, Bronchiectasis, Lymphadenopathy, Hepatospl... |
OMIM:619126 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Sinusitis, B lymphocytopenia, Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Pn... |
OMIM:601495 |
Immunodeficiency 14A, Autosomal Dominant |
|
Increased proportion of transitional B cells, Decreased specific pneumococcal antibody level, Dec... |
OMIM:615513 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Bronchiectasis, L... |
OMIM:619220 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Chronic active Epstein-Barr virus infection, Severe varicella zoster infection, Mediastinal lymph... |
OMIM:300853 |
Immunodeficiency 52 |
|
Bronchiectasis, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Ly... |
OMIM:617514 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Recurrent bronchitis, Decreased circulating IgG level, Otitis media, Decrea... |
OMIM:312863 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Respiratory insufficiency, Abnormal pattern of respiration, Cough, Abnormal eosinophil morphology... |
ORPHA:724 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, Recurrent opportunistic infections, Pneumonia, Failure to thrive secondary to ... |
OMIM:601457 |
Caspase 8 Deficiency |
|
Eczema, Pneumonia, Recurrent herpes, Decreased circulating IgA level, Lymphadenopathy, Decreased ... |
OMIM:607271 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Atopic dermatitis, Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upp... |
OMIM:618806 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Pneumonia, Recurrent otitis media, Bronchiolitis, Periodontitis, Reduction of neutrophil motility... |
OMIM:266265 |
Severe Combined Immunodeficiency, X-Linked |
|
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Pne... |
OMIM:300400 |
Immunodeficiency 72 With Autoinflammation |
|
Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Bron... |
OMIM:618982 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating total IgA, Erythroderma, Pneumonia, Recurrent herpes, Failure to thrive sec... |
ORPHA:169160 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Eczema, Lymphadenopathy, Lymphadenitis, Abscess, Recurrent infections, Onychomycosis, Splenomegal... |
OMIM:618935 |
Trimethylaminuria |
|
Anemia, Recurrent pneumonia, Neutropenia, Splenomegaly |
OMIM:602079 |
Immunodeficiency 84 |
|
Recurrent bacterial infections, B lymphocytopenia, Splenomegaly, Perianal abscess, Persistent EBV... |
OMIM:619437 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Recurrent E. coli infections, Eczematoid dermatitis, Lymphadenopathy, Lymphadenitis... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Recurrent E. coli infections, Eczematoid dermatitis, Lymphadenopathy, Lymphadenitis... |
OMIM:233710 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Pneumonia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Glomerulonephritis, ... |
OMIM:247800 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Lymphadenopathy, Recurrent otitis media, Splenomegaly, Recurrent urinary tract infe... |
OMIM:618495 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Recurrent E. coli infections, Eczematoid dermatitis, Lymphadenopathy, Lymphadenitis... |
OMIM:306400 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Recurrent E. coli infections, Eczematoid dermatitis, Lymphadenopathy, Lymphadenitis... |
OMIM:233690 |
Candidiasis, Familial, 2 |
|
Lymphadenopathy, Chronic oral candidiasis, Onychomycosis, Chronic tinea infection, Increased circ... |
OMIM:212050 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Bronchiectasis... |
OMIM:608184 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Atopic dermatitis, B lymphocytopenia, Pneumonia, Chronic otitis media, Recurrent viral infections... |
ORPHA:217390 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Recurrent bacterial infections, Atopic dermatitis, Eczema, Recurrent fungal infections, Recurrent... |
OMIM:243700 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Chronic pulmonary obstruction, Bronchiectasis, Recurrent sinopulmonary infections, Decreased circ... |
OMIM:616576 |
Omenn Syndrome |
|
Recurrent bacterial infections, B lymphocytopenia, Hepatomegaly, Erythroderma, Pneumonia, Lymphad... |
OMIM:603554 |
Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Bronchiectasis, Recurrent viral infections, Absence of CD8-positi... |
OMIM:608957 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Recurrent infections, Splenomegaly, Lymphocytosis, Decreased circulating total IgM |
OMIM:606445 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Agammaglobulinemia, Neutropenia, Recurrent infections |
OMIM:615214 |
Allergic Bronchopulmonary Aspergillosis |
|
Respiratory insufficiency, Bronchiectasis, Pulmonary arterial hypertension, Cough, Abnormal eosin... |
ORPHA:1164 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Chronic sinusitis, Recurrent oti... |
OMIM:613502 |
Eosinophilia, Familial |
|
Leukocytosis, Recurrent bronchitis, Anemia, Thrombocytopenia, Eosinophilia |
OMIM:131400 |
Isolated Agammaglobulinemia |
|
Sinusitis, Sepsis, Pneumonia, Recurrent cutaneous abscess formation, Abnormality of the lymphatic... |
ORPHA:229717 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Meningitis, Recurrent pneumonia, Recurrent re... |
OMIM:613500 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent bacterial infections, Hepatomegaly, Conjunctivitis, Bronchiectasis, Decreased circulati... |
OMIM:240500 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphadenopathy, Hepatitis, Recurrent otitis media, Splenomegaly, Autoimmune thrombocytopenia, Re... |
ORPHA:444463 |
Glycoprotein Storage Disease |
|
Gout, Splenomegaly |
OMIM:232900 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Lymphadenopathy, Abscess,... |
OMIM:150550 |
Eosinophilopenia |
|
Allergic rhinitis, Decreased eosinophil count |
OMIM:131430 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Recurrent infections, Splenomegaly, Autoimmune ... |
OMIM:614470 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Sepsis, Recurrent staphylococcal infections, Impaired platelet aggregation, Conjunctiv... |
ORPHA:2968 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Sepsis, Recurrent opportunistic infections, Recurrent herpes, Severe recurrent varicella, Decreas... |
ORPHA:276 |
Immunodeficiency 7 |
|
Lymphadenopathy, Hypereosinophilia, Recurrent infections |
OMIM:615387 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections, Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocyto... |
OMIM:202700 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent opportunistic infections, Stomatitis, Lymphadenopathy, Recurrent upper and lower respir... |
ORPHA:911 |
Immunodeficiency 76 |
|
B lymphocytopenia, Colitis, Lymphadenopathy, Splenomegaly, Recurrent pneumonia, Lymphopenia, Recu... |
OMIM:619164 |
Eosinophil Peroxidase Deficiency |
|
Abnormal eosinophil morphology |
OMIM:261500 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi... |
OMIM:613101 |
Immunodeficiency 13 |
|
B lymphocytopenia, Bronchiectasis, Bronchiolitis obliterans organizing pneumonia, Recurrent otiti... |
OMIM:615518 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Sepsis, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil an... |
ORPHA:231154 |
Immunodeficiency 27A |
|
Leukocytosis, Thrombocytosis, Enlarged mesenteric lymph node, Pneumonia, Lymphadenopathy, Salmone... |
OMIM:209950 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Pigment gallstones, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... |
OMIM:613470 |
Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Mediastinal lymphadenopathy, Bronchiectas... |
OMIM:618534 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Atopic dermatitis, Eczema, Bronchiectasis, Recurrent otitis media, Recurrent infections, Chronic ... |
OMIM:618282 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Sepsis, Severe varicella zoster infection, Ascites, Lymphadenopathy, Decreased circ... |
OMIM:615122 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia, Neonatal respiratory distress |
ORPHA:88621 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Coccidioidomycosis, Severe toxoplasmosis, Pneumonia, BCGosis, Lymphadenitis, Salmonella osteomyel... |
ORPHA:319552 |
Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... |
OMIM:614699 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Skin rash, Maculopapu... |
ORPHA:98848 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Recurrent respiratory infections, Respiratory insufficiency, Splenomegaly |
ORPHA:139406 |
Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Recurrent respiratory infections, Dyspnea, Se... |
OMIM:607616 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia |
OMIM:183350 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Inflammation of the large intestine, Folliculitis, Colitis, Decreased circulating a... |
OMIM:300635 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Shwachman-Diamond Syndrome |
|
Sinusitis, Sepsis, Eczema, Neutropenia, Pancreatic hypoplasia, Leukemia, Pancytopenia, Bone marro... |
ORPHA:811 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Chronic bronchitis, Decreased circulating antibody level, Recurrent infections, Pneumonia |
OMIM:614069 |
Immunodeficiency 89 And Autoimmunity |
|
Hypochromic microcytic anemia, Bronchiectasis, Increased circulating IgA level, Increased circula... |
OMIM:619632 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia, Allergic rhinitis, Conjunctivitis |
ORPHA:26137 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Neutropenia, Bronchiectasis, Decreased circulating IgG level, Dec... |
OMIM:193670 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Neutropenia, Infectious encephalitis, Lymphadenopathy, Reduced natural killer cell ... |
OMIM:308240 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Lymphadenopathy, Recurrent infections, Splenomegaly, Increased proportion autoreactive unresponsi... |
OMIM:615559 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Sepsis, Inflammation of the large intestine, Lymphadenopathy, Recurrent infections, Splenomegaly,... |
OMIM:614700 |
Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, BCGosis, Anemia, Splenomegaly, Hepatosplenomegaly, Skin rash, Pancy... |
OMIM:618963 |
Thymic Aplasia |
|
Sinusitis, Sepsis, Lymphadenopathy, Chronic otitis media, Recurrent infections, Recurrent candida... |
ORPHA:83471 |
Mast Cell Sarcoma |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis |
ORPHA:66661 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Abnormal platelet function, Decreased circulating antibody level, Acute myelo... |
ORPHA:2585 |
Immunodeficiency 92 |
|
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... |
OMIM:619652 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Sepsis, Eczema, Psoriasiform dermatitis, Bronchiectasis, Decreased circulating IgA ... |
OMIM:616100 |
Osteopetrosis, Autosomal Recessive 2 |
|
Chronic rhinitis due to narrow nasal airway, Anemia, Osteomyelitis, Hepatosplenomegaly, Mandibula... |
OMIM:259710 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Ciliary dyskinesia, Bronchiectasis, Reduced sperm... |
OMIM:619436 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Dyspnea, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:228312 |
Immunodeficiency 60 And Autoimmunity |
|
Bronchiectasis, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased ci... |
OMIM:618394 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Splenomegaly, Decreased circulating total IgM, Eosinophilia, Decreased circulating IgG... |
OMIM:102700 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
Primary Myelofibrosis |
|
Leukocytosis, Thrombocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... |
ORPHA:824 |
Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Recurrent bacterial infections, Recurrent opportunistic infections, Pneumonia, Neutrop... |
OMIM:613179 |
Microlissencephaly |
|
Pneumonia, Periventricular heterotopia, Simplified gyral pattern, Pachygyria, Polymicrogyria, Sub... |
ORPHA:1083 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia |
ORPHA:231393 |
Immunodeficiency 25 |
|
Erythroderma, Recurrent herpes, Complete or near-complete absence of specific antibody response t... |
OMIM:610163 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Acute lymphobl... |
ORPHA:486 |
Pneumocystosis |
|
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Chronic oral candidiasis, Exertio... |
ORPHA:723 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia, Dyspnea |
ORPHA:517 |
Tularemia |
|
Brain abscess, Leukocytosis, Mediastinal lymphadenopathy, Pneumonia, Lymphadenopathy, Anemia, Cou... |
ORPHA:3392 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Cholangitis, Sepsis, Decreased specific pneumococcal antibody level, Recurrent herpes, Recurrent ... |
ORPHA:183675 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent o... |
OMIM:615294 |
Ciliary Dyskinesia, Primary, 44 |
|
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Bronchiectasis, Ot... |
OMIM:618781 |
Ciliary Dyskinesia, Primary, 9 |
|
Ciliary dyskinesia, Pneumonia, Bronchiectasis, Chronic rhinitis, Recurrent otitis media, Cough, R... |
OMIM:612444 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly |
OMIM:206400 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, Dyspnea, HbH hemo... |
ORPHA:231401 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Bronchiectasis |
OMIM:618459 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Bronchiolitis obliterans, Hypoxemia, Reduced forced expiratory volume in one second, Pneumonia, B... |
ORPHA:1303 |
Slc35A1-Cdg |
|
Hypoxemia, Neutropenia, Pneumonia, Pulmonary hemorrhage, Respiratory distress, Abnormal platelet ... |
ORPHA:238459 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent bacterial infections, Hepatomegaly, Sepsis, Pneumonia, Lymphadenopathy, Recurrent funga... |
ORPHA:169090 |
Cyclic Neutropenia |
|
Sinusitis, Sepsis, Enterocolitis, Peritonitis, Lymphadenopathy, Opportunistic infection, Periodon... |
ORPHA:2686 |
Felty Syndrome |
|
Sinusitis, Sepsis, Neutropenia, Lymphadenopathy, Chronic otitis media, Pleuritis, Recurrent infec... |
ORPHA:47612 |
Idiopathic Bronchiectasis |
|
Wheezing, Productive cough, Crackles, Abnormal respiratory system physiology, Bronchiectasis, Red... |
ORPHA:60033 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Lymphadenopathy, Recurrent infections, Decreased proportion of CD3-positive T cells,... |
ORPHA:169154 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormal T cell morphology, Eczematoid dermatitis, Pyoderma, Bronchiectasis, Recurrent bronchopul... |
OMIM:242700 |
Chediak-Higashi Syndrome |
|
Hepatomegaly, Neutropenia, Leukopenia, Lymphadenopathy, Abnormal dense granules, Giant neutrophil... |
OMIM:214500 |
Ciliary Dyskinesia, Primary, 41 |
|
Immotile sperm, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent otitis media, Rec... |
OMIM:618449 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Decreased circulating ant... |
OMIM:618108 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Selective Igm Deficiency |
|
Sepsis, Severe varicella zoster infection, Non-infectious meningitis, Recurrent herpes, Neutropen... |
ORPHA:331235 |
Agammaglobulinemia 8, Autosomal Dominant |
|
B lymphocytopenia, Agammaglobulinemia, Recurrent infections, Recurrent otitis media |
OMIM:616941 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Pneumonia, Peritonitis, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Absent tonsils, Pneumonia, Lymph node hypoplasia, Aplasia of the thymus, Recurrent upper respirat... |
OMIM:602450 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... |
OMIM:133180 |
Scedosporiosis |
|
Sinusitis, Sepsis, Abnormal respiratory system physiology, Fungal meningitis, Pleuritis, Septic a... |
ORPHA:449280 |
Ciliary Dyskinesia, Primary, 42 |
|
Chronic pulmonary obstruction, Respiratory insufficiency, Pneumonia, Bronchiectasis, Chronic rhin... |
OMIM:618695 |
Ciliary Dyskinesia, Primary, 33 |
|
Ciliary dyskinesia, Bronchiectasis, Recurrent bronchitis, Chronic rhinitis, Recurrent otitis medi... |
OMIM:616726 |
Necrobiosis Lipoidica |
|
Granuloma, Abnormality of neutrophil physiology, Inflammatory abnormality of the skin |
ORPHA:542592 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Chronic sinusitis, Recu... |
OMIM:612692 |
Neonatal Alloimmune Neutropenia |
|
Sepsis, Pneumonia, Neutropenia in presence of anti-neutropil antibodies, Meningitis, Severe infec... |
ORPHA:464370 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:607685 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Membranous nephropathy, Hepatic cysts, Recurrent viral infections, Colonic eos... |
OMIM:618999 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Hereditary Spherocytosis |
|
Hepatomegaly, Anemia, Cholelithiasis, Gout, Splenomegaly, Extramedullary hematopoiesis, Increased... |
ORPHA:822 |
Ciliary Dyskinesia, Primary, 23 |
|
Productive cough, Neonatal respiratory distress, Chronic bronchitis, Ciliary dyskinesia, Bronchie... |
OMIM:615451 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Neutropenia, Stomatitis, Hepatitis, Splenomegaly, Dysgammaglobulinemia, Hemolytic anemia,... |
OMIM:308230 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Enteroviral hepatitis, Recurrent bacterial infections, Infectious encephalitis, Pyoder... |
OMIM:307200 |
Ciliary Dyskinesia, Primary, 14 |
|
Wheezing, Neonatal respiratory distress, Chronic bronchitis, Immotile sperm, Ciliary dyskinesia, ... |
OMIM:613807 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Conjunctivitis, Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Skin rash, Thro... |
OMIM:603552 |
Immunodeficiency 36 |
|
Recurrent bacterial infections, Chronic lymphatic leukemia, Bronchiectasis, Decreased circulating... |
OMIM:616005 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Hepatomegaly, Erythroid hyperplasia, Elevated hepatic iron concentration, Hepatocel... |
ORPHA:231222 |
Mucus Inspissation Of Respiratory Tract |
|
Chronic pulmonary obstruction, Bronchiectasis, Chronic sinusitis, Recurrent respiratory infection... |
OMIM:253240 |
Staphylococcal Necrotizing Pneumonia |
|
Hypoxemia, Leukocytosis, Sepsis, Pneumonia, Leukopenia, Tachypnea, Pneumothorax, Pulmonary pneuma... |
ORPHA:36238 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Skin rash, Splenomegaly |
OMIM:619175 |
Ciliary Dyskinesia, Primary, 39 |
|
Bronchiectasis, Rhinorrhea, Recurrent otitis media, Cough, Recurrent lower respiratory tract infe... |
OMIM:618254 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Ascites, Anemia, Decreased osteoclast count, Splenomegaly, Extramedul... |
OMIM:259720 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly |
OMIM:615593 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Cutaneous anergy, Recurren... |
OMIM:600802 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Decreased circulating antibody level, Recurrent upper and lower respirator... |
ORPHA:331206 |
Aspergillosis |
|
Sinusitis, Neutropenia, Hepatitis, Pleuritis, Unusual CNS infection, Eosinophilia, Chronic pulmon... |
ORPHA:1163 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c... |
OMIM:613494 |
Poikiloderma With Neutropenia |
|
Neutropenia, Recurrent otitis media, Splenomegaly, Recurrent pneumonia, Blepharitis, Recurrent si... |
OMIM:604173 |
Immunodeficiency 14B, Autosomal Recessive |
|
B lymphocytopenia, Thrombocytosis, Leukocytosis, Inflammation of the large intestine, Monocytosis... |
OMIM:619281 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Myeloproliferative disorder, Eosinophilia |
OMIM:131440 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of class-switched memory B cells, Glomerulonephritis, Decrease... |
OMIM:619375 |
Ciliary Dyskinesia, Primary, 27 |
|
Sinusitis, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insuffic... |
OMIM:615504 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eczematoid dermatitis, Recurrent sinopulmonary infections, Recurrent fungal infections, Chronic m... |
OMIM:147060 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... |
ORPHA:75564 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... |
OMIM:237800 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Chronic otitis media, Respiratory distress, Abnormal mucociliary clearance, Recur... |
OMIM:619466 |
Melioidosis |
|
Brain abscess, Abnormality of the spleen, Sepsis, Splenic abscess, Lung abscess, Pneumonia, Unusu... |
ORPHA:31202 |
Immunodeficiency 56 |
|
Recurrent infection of the gastrointestinal tract, Cholangitis, Bronchiectasis, Recurrent otitis ... |
OMIM:615207 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Arthritis, Eosinophilia, Lymphopenia, Abnormal pleura morphology |
ORPHA:2582 |
Agammaglobulinemia, X-Linked |
|
Sinusitis, Enteroviral hepatitis, Agammaglobulinemia, Infectious encephalitis, Pyoderma, Pneumoni... |
OMIM:300755 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
Immunodeficiency 77 |
|
Chronic pulmonary obstruction, Bronchiectasis, Nontuberculous mycobacterial pulmonary infection, ... |
OMIM:619223 |
Gaucher Disease Type 2 |
|
Hepatomegaly, Abnormal pattern of respiration, Cough, Splenomegaly, Respiratory distress, Recurre... |
ORPHA:77260 |
Dominant Beta-Thalassemia |
|
Chronic infection, Hypochromic microcytic anemia, Hepatic fibrosis, Hepatocellular carcinoma, Spl... |
ORPHA:231226 |
Mounier-Kühn Syndrome |
|
Recurrent bronchopulmonary infections, Recurrent respiratory infections, Pneumonia, Bronchitis |
ORPHA:3347 |
Felty Syndrome |
|
Rheumatoid arthritis, Neutropenia, Splenomegaly |
OMIM:134750 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Brain abscess, Hypoxemia, Lung abscess, Pneumonia, Cough, Recurrent respiratory infections, Decre... |
OMIM:610910 |
Beta-Thalassemia Major |
|
Hepatomegaly, Chronic infection, Anisopoikilocytosis, Hypochromic microcytic anemia, Hepatic fibr... |
ORPHA:231214 |
Omenn Syndrome |
|
Leukocytosis, Hepatomegaly, Sepsis, Erythroderma, Pneumonia, Lymphadenopathy, Abnormal lymphocyte... |
ORPHA:39041 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Eczema, Bronchiectasis, Recurrent otitis media, Keratitis, Increased circulating IgE level, Recur... |
OMIM:618523 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Sepsis, Agammaglobulinemia, Neutropenia, Bronchiectasis, Chronic otitis media, Hepatit... |
ORPHA:33110 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatosplenomegaly, Pancytopenia, Recurrent respiratory infections, Portal hypertension, Jaundice... |
ORPHA:79124 |
Sarcoidosis, Susceptibility To, 2 |
|
Hypoxemia, Hepatomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Pneumothorax, Pulmonary art... |
OMIM:612387 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... |
OMIM:601859 |
Kimura Disease |
|
Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia |
ORPHA:482 |
Idiopathic Achalasia |
|
Wheezing, Recurrent aspiration pneumonia, Cough, Bronchitis |
ORPHA:930 |
Good Syndrome |
|
Sinusitis, Mediastinal lymphadenopathy, Bronchiectasis, Decreased circulating antibody level, Ane... |
ORPHA:169105 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Pneumonia, Bronchiectasis, Lymphadenopathy, Recurrent bronchitis, Chronic otiti... |
ORPHA:1572 |
Eosinophilic Fasciitis |
|
Myositis, Fasciitis, Arthritis, Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Chédiak-Higashi Syndrome |
|
Neutropenia, Abnormal platelet function, Lymphadenopathy, Recurrent infections, Splenomegaly, Per... |
ORPHA:167 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Colitis, Splenomegaly |
OMIM:615947 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Ciliary Dyskinesia, Primary, 28 |
|
Sinusitis, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insuffic... |
OMIM:615505 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Leukopenia, Stomatitis, Lymphadenopathy, Decreased circulating IgG level, Decreased... |
OMIM:613011 |
Ciliary Dyskinesia, Primary, 26 |
|
Neonatal respiratory distress, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, ... |
OMIM:615500 |
Halothane Hepatitis |
|
Viral hepatitis, Eosinophilia, Hepatitis, Jaundice |
OMIM:234350 |
Ciliary Dyskinesia, Primary, 3 |
|
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Recurrent otitis media, Recurr... |
OMIM:608644 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... |
OMIM:613673 |
Ciliary Dyskinesia, Primary, 29 |
|
Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Decreased nasal nitric oxid... |
OMIM:615872 |
Ciliary Dyskinesia, Primary, 11 |
|
Neonatal respiratory distress, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Reduced sp... |
OMIM:612649 |
Fusariosis |
|
Sinusitis, Brain abscess, Neutropenia, Fasciitis, Maculopapular exanthema, Unusual CNS infection,... |
ORPHA:228119 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume |
OMIM:615234 |
Chronic Granulomatous Disease |
|
Sinusitis, Hepatomegaly, Sepsis, Chronic pulmonary obstruction, Mediastinal lymphadenopathy, Ecze... |
ORPHA:379 |
Whim Syndrome |
|
Sinusitis, Sepsis, Recurrent bacterial infections, Neutropenia, Pneumonia, Bronchiectasis, Lympha... |
ORPHA:51636 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction |
ORPHA:141152 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Maculopapular exanthema, Histiocytosis |
ORPHA:157991 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Pachygyria, Polymicrogyria, Aspiration pneumonia |
OMIM:609528 |
Ciliary Dyskinesia, Primary, 5 |
|
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insufficiency due to defecti... |
OMIM:608647 |
Ciliary Dyskinesia, Primary, 20 |
|
Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... |
OMIM:615067 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Eczema, Desquamative interstitial pneumonitis, Interstitial pneumonitis, Neutropenia in presence ... |
OMIM:615952 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating... |
ORPHA:100024 |
Ciliary Dyskinesia, Primary, 32 |
|
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Immotile cilia, Recurrent resp... |
OMIM:616481 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Neonatal respiratory distress, Bronchiectasis, Cough, Recurrent respiratory infections, Recurrent... |
OMIM:300991 |
Chronic Beryllium Disease |
|
Reticulonodular pattern on pulmonary HRCT, Mediastinal lymphadenopathy, Lymphocytic interstitial ... |
ORPHA:133 |
Young Syndrome |
|
Recurrent sinopulmonary infections, Recurrent bronchitis, Bronchiectasis |
OMIM:279000 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis, Erythroderma, Cardiorespiratory arrest |
ORPHA:280785 |
Cinca Syndrome |
|
Leukocytosis, Lymphadenopathy, Anemia, Arthritis, Meningitis, Hepatosplenomegaly, Uveitis, Skin r... |
OMIM:607115 |
Sandhoff Disease |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly |
ORPHA:796 |
Immunodeficiency 54 |
|
Hepatomegaly, Respiratory insufficiency, Lymphadenopathy, Recurrent viral infections, Splenomegal... |
OMIM:609981 |
Ciliary Dyskinesia, Primary, 15 |
|
Wheezing, Neonatal respiratory distress, Chronic bronchitis, Immotile sperm, Ciliary dyskinesia, ... |
OMIM:613808 |
Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... |
ORPHA:846 |
Babesiosis |
|
Hepatomegaly, Respiratory insufficiency, Leukopenia, Recurrent infections, Cough, Splenomegaly, R... |
ORPHA:108 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Epistaxis, Splenomegaly |
ORPHA:721 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Sinusitis, Absent microvilli on the surface of peripheral blood lymphocytes, Eczema, Inflammation... |
OMIM:600903 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Pgm3-Cdg |
|
Sepsis, Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Chronic otitis... |
ORPHA:443811 |
Spondylometaphyseal Dysplasia, Axial |
|
Splenomegaly, Recurrent pneumonia, Reduced sperm motility |
OMIM:602271 |
Tracheobronchopathia Osteochondroplastica |
|
Wheezing, Productive cough, Stridor, Respiratory insufficiency, Pneumonia, Esophagitis, Upper air... |
ORPHA:3348 |
Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Immotile sperm, Bronchiectasis, Recurrent bronchitis, Chronic rhin... |
OMIM:617091 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
OMIM:603909 |
Follicular Lymphoma |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Abnormality of the peritoneum, Splenomegaly, Mening... |
ORPHA:545 |
X-Linked Sideroblastic Anemia |
|
Dyspnea, Anemia, Splenomegaly |
ORPHA:75563 |
Aggressive Systemic Mastocytosis |
|
Leukocytosis, Neutropenia, Thrombocytopenia, Ascites, Leukemia, Lymphadenopathy, Anemia, Abnormal... |
ORPHA:98850 |
Adult-Onset Still Disease |
|
Myocarditis, Leukocytosis, Hepatomegaly, Pericarditis, Hepatitis, Bone marrow hypocellularity, Pl... |
ORPHA:829 |
Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Chronic otitis media, Bone marrow hy... |
ORPHA:3226 |
Cholesterol Pneumonia |
|
Tachypnea, Cough, Pneumonia |
OMIM:215030 |
Thrombocythemia 1 |
|
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced plat... |
OMIM:187950 |
X-Linked Lymphoproliferative Disease |
|
Myocarditis, Inflammation of the large intestine, Lymphadenopathy, Decreased circulating antibody... |
ORPHA:2442 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Recurrent aspiration pneumonia, Apnea, Anemia, Splenomegaly, Thrombocytopenia |
OMIM:230900 |
Ciliary Dyskinesia, Primary, 43 |
|
Productive cough, Neonatal respiratory distress, Abdominal situs inversus, Bronchiectasis, Chroni... |
OMIM:618699 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Tracheobronchomegaly |
|
Recurrent bronchopulmonary infections, Bronchiectasis |
OMIM:275300 |
Muscular Hypertonia, Lethal |
|
Pneumonia |
OMIM:254120 |
Say-Barber-Miller Syndrome |
|
Abnormal T cell morphology, Eczema, Transient hypogammaglobulinemia of infancy, Decreased circula... |
ORPHA:3132 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Prolonged neonatal jaundice,... |
ORPHA:766 |
Ciliary Dyskinesia, Primary, 12 |
|
Immotile sperm, Ciliary dyskinesia, Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Recurren... |
OMIM:612650 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Hepatic steatosis,... |
ORPHA:79303 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Prolonged neonatal jaundice, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, R... |
OMIM:224120 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Allergic rhinitis, Anemia, Splenomegaly, Jaundice, Asthma, Skin rash, Exocrine panc... |
OMIM:612714 |
Pfapa Syndrome |
|
Hepatomegaly, Infectious encephalitis, Lymphadenopathy, Arthritis, Splenomegaly, Recurrent pharyn... |
ORPHA:42642 |
Schnitzler Syndrome |
|
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Arthritis, Splenomegaly, Increased circulati... |
ORPHA:37748 |
Hodgkin Lymphoma |
|
Hepatomegaly, Lymphadenopathy, Cough, Splenomegaly, Dyspnea |
ORPHA:98293 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly, Dysgammaglobulinemia |
ORPHA:100025 |
Bacterial Toxic-Shock Syndrome |
|
Sinusitis, Sepsis, Myocarditis, Severe varicella zoster infection, Fasciitis, Hepatitis, Septic a... |
ORPHA:36234 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Wheezing, Hypoxemia, Leukocytosis, Atopic dermatitis, Crackles, Hypersensitivity pneumonitis, Inc... |
ORPHA:2902 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Hepatocellular carcinoma, Ascites, Epistaxis, Recurrent infections, Nodular regener... |
OMIM:619463 |
Avian Influenza |
|
Productive cough, Hypoxemia, Sepsis, Infectious encephalitis, Pneumonia, Leukopenia, Tachypnea, P... |
ORPHA:454836 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Sepsis, Eczema, Neutropenia, Tubulointerstitial nephritis, Neutropenia in presence of anti-neutro... |
ORPHA:37042 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Chronic active Epstein-Barr virus infection, Abnormal inflammatory response, Neutro... |
ORPHA:158048 |
Ciliary Dyskinesia, Primary, 25 |
|
Sinusitis, Chronic pulmonary obstruction, Ciliary dyskinesia, Bronchiectasis, Immotile cilia, Rec... |
OMIM:615482 |
Erythrocytosis, Familial, 8 |
|
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... |
OMIM:222800 |
Immunodeficiency 23 |
|
Eczema, Allergic rhinitis, Neutropenia, Severe varicella zoster infection, Bronchiectasis, Absces... |
OMIM:615816 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Decreased circulating antibody level, Recurrent infections, Splenomegaly, Lymphopenia |
OMIM:605309 |
Q Fever |
|
Myocarditis, Lymphadenopathy, Hepatitis, Splenomegaly, Hepatosplenomegaly, Maculopapular exanthem... |
ORPHA:781 |
Leishmaniasis |
|
Hepatomegaly, Leukopenia, Rhinitis, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophage mo... |
ORPHA:507 |
Ciliary Dyskinesia, Primary, 7 |
|
Ciliary dyskinesia, Bronchiectasis, Reduced FEV1/FVC ratio, Abnormal ciliary motility, Recurrent ... |
OMIM:611884 |
Rigid Spine Syndrome |
|
Abnormality on pulmonary function testing, Respiratory insufficiency, Pneumonia |
ORPHA:97244 |
Ciliary Dyskinesia, Primary, 22 |
|
Sinusitis, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insuffic... |
OMIM:615444 |
Ciliary Dyskinesia, Primary, 1 |
|
Ciliary dyskinesia, Pneumonia, Bronchiectasis, Chronic rhinitis, Asplenia, Chronic sinusitis, Rec... |
OMIM:244400 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczema, Neutropenia, Erythroderma, Glomerulonephritis, Coombs-positive hemolytic anemia, Lymphade... |
OMIM:304790 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Interstitial pneumonitis, Decreased circulating IgA level, Recurrent infections, Bronchiolitis, D... |
OMIM:614878 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic steatosis, Hepatomegaly, Hepatic fibrosis, Splenomegaly |
OMIM:614480 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Wheezing, Hypoxemia, Honeycomb lung, Chronic pulmonary obstruction, Chronic bronchitis, Bronchiec... |
ORPHA:79127 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Sp... |
OMIM:616860 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... |
OMIM:610913 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Leukocytosis, Lymphadenopathy, Arthritis, Splenomegaly, Skin rash, Recurrent aphthous stomatitis,... |
OMIM:611762 |
Acute Lung Injury |
|
Hypoxemia, Sepsis, Pneumonia, Tachypnea, Respiratory distress, Abnormal pulmonary interstitial mo... |
ORPHA:178320 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... |
OMIM:616689 |
Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia, Chronic rhinitis, Recurrent respiratory infections, Bronchiectasis |
OMIM:618801 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Chronic pulmonary obstruction, Crackles, Bronchiectasis, Lymphadenopathy, Pneumothorax, Cough, Re... |
ORPHA:411703 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Thrombocytosis, Hepatomegaly, Pneumonia, Ascites, Iron deficiency anemia, Decreased circulating a... |
OMIM:226300 |
Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis |
OMIM:154800 |
Bronchiectasis With Or Without Elevated Sweat Chloride 3 |
|
Chronic bronchitis, Bronchiectasis |
OMIM:613071 |
Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
|
Chronic bronchitis, Bronchiectasis |
OMIM:211400 |
Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
|
Chronic bronchitis, Bronchiectasis |
OMIM:613021 |
Immunodeficiency 58 |
|
Eczema, Chronic bronchitis, Chronic otitis media, Decreased circulating antibody level, Recurrent... |
OMIM:618131 |
Prolidase Deficiency |
|
Hepatomegaly, Eczema, Thrombocytopenia, Anemia, Recurrent infections, Splenomegaly, Crusting eryt... |
OMIM:170100 |
Familial Nasal Acilia |
|
Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Respiratory distress, Recurrent upper respir... |
ORPHA:922 |
Idiopathic Pulmonary Fibrosis |
|
Honeycomb lung, Crackles, Bronchiectasis, Cough, Exertional dyspnea, Abnormal pulmonary interstit... |
ORPHA:2032 |
Ciliary Dyskinesia, Primary, 19 |
|
Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insufficiency due t... |
OMIM:614935 |
Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell activity, Anemia, Splenomegaly, Reduced natural killer cell count, Me... |
OMIM:616050 |
Fgfr2-Related Bent Bone Dysplasia |
|
Hepatosplenomegaly, Extramedullary hematopoiesis |
ORPHA:313855 |
Osteopetrosis, Autosomal Recessive 3 |
|
Hepatosplenomegaly, Anemia, Extramedullary hematopoiesis |
OMIM:259730 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Sinusitis, Hepatomegaly, Myositis, Lymphadenopathy, Panniculitis, Anemia, Recurrent infections, A... |
OMIM:617591 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Impaired lymphocyte transfo... |
ORPHA:35078 |
Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Sepsis, Pneumonia, Tachypnea, Respiratory tract infection, Pulmonary edema, Respirator... |
ORPHA:70587 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune t... |
ORPHA:100026 |
Macrosomia Adiposa Congenita |
|
Eosinophilia |
OMIM:248100 |
Beta-Thalassemia |
|
Hepatomegaly, Respiratory insufficiency, Hepatitis, Anemia, Abnormal hemoglobin, Cholelithiasis, ... |
ORPHA:848 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... |
OMIM:235700 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Cough, Respiratory failure, Dyspnea, Respiratory failure requiring assisted ventilation, Aspirati... |
ORPHA:90117 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Epistaxis, Splenomegaly, Reticulocytosis, Thrombocytopenia, Hemolytic anemia |
OMIM:314050 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency, Ascites, Anemia, Splenomegaly |
ORPHA:1046 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Splenomegaly |
OMIM:618541 |
Dysplastic Cortical Hyperostosis |
|
Abnormality of neuronal migration, Hepatomegaly, Aplasia/Hypoplasia of the lungs, Splenomegaly |
ORPHA:2204 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia |
OMIM:610539 |
Ciliary Dyskinesia, Primary, 35 |
|
Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Cough, Recurrent respiratory infections |
OMIM:617092 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Chronic bronchitis, Pneumonia, Bronchiectasis, Decreased circulating IgA level, Reduce... |
OMIM:242860 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Eosinophilia, Infectious encephalitis, Tubulointerstitial nephritis, Interstitial pn... |
ORPHA:139402 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Eosinophilia, Recurrent infections, Asthma |
OMIM:618092 |
Ciliary Dyskinesia, Primary, 24 |
|
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Recurrent sinusitis |
OMIM:615481 |
Ciliary Dyskinesia, Primary, 30 |
|
Chronic bronchitis, Respiratory insufficiency, Ciliary dyskinesia, Bronchiectasis, Respiratory in... |
OMIM:616037 |
Immunodeficiency 65, Susceptibility To Viral Infections |
|
Stomatitis, Recurrent viral infections, Recurrent gastroenteritis, Bronchiectasis |
OMIM:618648 |
Graft Versus Host Disease |
|
Inflammatory abnormality of the skin, Pneumonia, Stomatitis, Lymphadenopathy, Myositis, Fasciitis... |
ORPHA:39812 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Respiratory insufficiency, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thromboc... |
OMIM:610333 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Sepsis, Eczema, Inflammation of the large intestine, Neutropenia, Abnormal platelet fu... |
ORPHA:906 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent bacterial infections, Hepatomegaly, Sepsis, Neutropenia, Respiratory insufficiency, Leu... |
OMIM:612541 |
Acute Interstitial Pneumonia |
|
Reduced hematocrit, Hypoxemia, Reticulonodular pattern on pulmonary HRCT, Subpleural honeycombing... |
ORPHA:79126 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Exertional dyspnea, Increased hematocrit, Increased ... |
OMIM:133100 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
Hereditary Folate Malabsorption |
|
Cheilitis, Decreased circulating antibody level, Megaloblastic anemia, Recurrent urinary tract in... |
ORPHA:90045 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Thrombocytopenia, Blepharitis, Sea-blue ... |
ORPHA:158029 |
Spherocytosis, Type 5 |
|
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612690 |
Primary Ciliary Dyskinesia |
|
Wheezing, Productive cough, Neonatal respiratory distress, Pulmonary situs ambiguus, Asplenia, Br... |
ORPHA:244 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Splenomegaly, Respiratory distress, Thrombocytop... |
ORPHA:79312 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neoplasm of the lung, Neutropenia, Hepatocellular carcinoma, Anemia... |
ORPHA:158057 |
Roifman Syndrome |
|
Hepatomegaly, Eczema, Lymphadenopathy, Recurrent otitis media, Splenomegaly, Recurrent pneumonia,... |
OMIM:616651 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Leukocytosis, Chronic lymphatic leukemia, Hepatomegaly, Normocytic anemia, Lymphadenopathy, Normo... |
ORPHA:98849 |
Roifman Syndrome |
|
Eczema, Lymphadenopathy, Decreased circulating antibody level, Recurrent otitis media, Hepatosple... |
ORPHA:353298 |
Cleft Velum |
|
Recurrent otitis media, Aspiration pneumonia |
ORPHA:99772 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly |
OMIM:617441 |
Farber Lipogranulomatosis |
|
Hepatomegaly, Respiratory insufficiency, Arthritis, Splenomegaly, Lipogranulomatosis |
OMIM:228000 |
Adult Acute Respiratory Distress Syndrome |
|
Hypoxemia, Sepsis, Pneumonia, Pancreatitis, Abnormal blood gas level, Pulmonary edema, Respirator... |
ORPHA:70578 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis |
OMIM:613313 |
Osteopetrosis, Autosomal Recessive 8 |
|
Thrombocytopenia, Anemia, Hepatomegaly, Splenomegaly |
OMIM:615085 |
Cystic Echinococcosis |
|
Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Abscess, Hepatic cysts... |
ORPHA:400 |
Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:185020 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Eczema, Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Skin rash |
ORPHA:2584 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia, Esophagitis |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia, Esophagitis |
OMIM:613412 |
Netherton Syndrome |
|
Allergic rhinitis, Erythroderma, Decreased circulating IgG level, Recurrent infections, Increased... |
OMIM:256500 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Pericarditis, Lymphadenopathy, Splenomegaly, Anterior uveitis, Juvenile rheumatoid ... |
ORPHA:85414 |
Hermansky-Pudlak Syndrome 2 |
|
Recurrent bacterial infections, Hepatomegaly, Neutropenia, Reduced natural killer cell activity, ... |
OMIM:608233 |
Severe Acute Respiratory Syndrome |
|
Hypoxemia, Cough, Respiratory distress, Acute infectious pneumonia, Chronic lung disease, Dyspnea... |
ORPHA:140896 |
Bare Lymphocyte Syndrome, Type I |
|
Recurrent bronchitis, Bronchiectasis, Chronic otitis media, Chronic sinusitis, Bronchiolitis, Emp... |
OMIM:604571 |
Ciliary Dyskinesia, Primary, 13 |
|
Sinusitis, Ciliary dyskinesia, Recurrent bronchitis, Bronchiectasis, Recurrent otitis media |
OMIM:613193 |
Alpha-Mannosidosis, Adult Form |
|
Pneumonia, Recurrent infections, Hepatosplenomegaly, Pancytopenia, Recurrent gastroenteritis |
ORPHA:309288 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Panniculitis, Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis |
OMIM:618398 |
Aicardi-Goutieres Syndrome 7 |
|
Atopic dermatitis, Hepatomegaly, Splenomegaly, Increased circulating antibody level, Thrombocytop... |
OMIM:615846 |
Hypocomplementemic Urticarial Vasculitis |
|
Recurrent bacterial infections, Hepatomegaly, Airway obstruction, Episcleritis, Ascites, Lymphade... |
ORPHA:36412 |
Bloom Syndrome |
|
Acute lymphoblastic leukemia, Severe varicella zoster infection, Recurrent herpes, Decreased circ... |
ORPHA:125 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Chronic pulmonary obstruction, Ascites, Pulmonary arterial hypertension, Cough, Spl... |
ORPHA:2414 |
Galactose Epimerase Deficiency |
|
Jaundice, Hepatomegaly, Splenomegaly |
ORPHA:79238 |
Wiskott-Aldrich Syndrome |
|
Sepsis, Impaired lymphocyte transformation with phytohemagglutinin, Eczema, Inflammation of the l... |
OMIM:301000 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Hypoxemia, Crackles, Tachypnea, Cough, Respiratory distress, Acute infectio... |
ORPHA:264675 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Cholestasis, Skin rash, Splenomegaly |
OMIM:105200 |
Sickle Cell Anemia |
|
Recurrent bacterial infections, Hypoxemia, Leukocytosis, Hepatomegaly, Cardiomegaly, Cholelithias... |
OMIM:603903 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly |
ORPHA:417 |
Legionnaires Disease |
|
Myocarditis, Sepsis, Infectious encephalitis, Respiratory insufficiency, Pericarditis, Endocardit... |
ORPHA:549 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Respiratory insufficiency, Lymphadenopathy, Bone marrow hypocellularity, Cough, Spl... |
ORPHA:391 |
Ciliary Dyskinesia, Primary, 17 |
|
Ciliary dyskinesia, Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Cough, Recurrent respira... |
OMIM:614679 |
Mastocytosis |
|
Hepatomegaly, Respiratory insufficiency, Acute leukemia, Chronic leukemia, Cough, Splenomegaly, A... |
ORPHA:98292 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Recurrent upper respiratory tract infections, Recurrent lower respiratory tract infections, Bronc... |
OMIM:619446 |
Galactosemia Iii |
|
Jaundice, Hepatomegaly, Splenomegaly |
OMIM:230350 |
Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Erysipelas, Jaundice |
OMIM:214900 |
Lymphoid Interstitial Pneumonia |
|
Wheezing, Eczema, Crackles, Restrictive ventilatory defect, Hypoxemia, Subpleural interstitial th... |
ORPHA:79128 |
Coproporphyria, Hereditary |
|
Jaundice, Hepatomegaly, Respiratory paralysis, Splenomegaly |
OMIM:121300 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Rhinorrhea, Chronic mucocutaneous candidiasis, Recurrent pneumonia, Fibrocystic lung d... |
OMIM:158310 |
Spherocytosis, Type 4 |
|
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612653 |
Spherocytosis, Type 2 |
|
Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:616649 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Nocardiosis |
|
Brain abscess, Sepsis, Pleuritis, Unusual CNS infection, Respiratory failure, Emphysema, Conjunct... |
ORPHA:31204 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis |
OMIM:271500 |
Autoimmune Hemolytic Anemia |
|
Dyspnea, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:98375 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:185000 |
Cinca Syndrome |
|
Leukocytosis, Hepatomegaly, Lymphadenopathy, Retrobulbar optic neuritis, Anemia, Abnormal granulo... |
ORPHA:1451 |
Hyper-Igd Syndrome |
|
Leukocytosis, Increased circulating IgA level, Lymphadenopathy, Lymphadenitis, Chronic oral candi... |
OMIM:260920 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Neonatal asphyxia, Congenital laryngeal stridor, Bronchiectasis |
ORPHA:2375 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
Riddle Syndrome |
|
Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Chronic sinusitis, R... |
ORPHA:420741 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia |
OMIM:611490 |
Brucellosis |
|
Myocarditis, Lymphadenopathy, Knee osteoarthritis, Septic arthritis, Splenomegaly, Hypersplenism,... |
ORPHA:1304 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Keratoconjunctivitis sicca, Hepatomegaly, Increased circulating IgA level, Increased circulating ... |
OMIM:617388 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia, Myositis |
OMIM:253600 |
Scrub Typhus |
|
Myocarditis, Infectious encephalitis, Lymphadenopathy, Cough, Splenomegaly, Anterior uveitis, Men... |
ORPHA:83317 |
Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Ciliary Dyskinesia, Primary, 16 |
|
Ciliary dyskinesia, Bronchiectasis, Chronic otitis media, Chronic rhinitis, Chronic sinusitis, Ab... |
OMIM:614017 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:596 |
Bronchogenic Cyst |
|
Chronic infection, Pneumonia, Bronchogenic cyst, Abnormality of the peritoneum, Cough, Pulmonary ... |
ORPHA:2357 |
Eosinophilic Gastroenteritis |
|
Atopic dermatitis, Leukocytosis, Allergic rhinitis, Ascites, Anemia, Asthma, Eosinophilia |
ORPHA:2070 |
Immunodeficiency 43 |
|
Decreased circulating IgG level, Recurrent respiratory infections, Bronchiectasis |
OMIM:241600 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:182900 |
Timothy Syndrome |
|
Cardiomegaly, Recurrent infections, Pneumonia, Bronchitis |
OMIM:601005 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophagocytosis, Jaundice |
ORPHA:79477 |
Mixed Connective Tissue Disease |
|
Myocarditis, Hepatomegaly, Keratoconjunctivitis sicca, Mediastinal lymphadenopathy, Pericarditis,... |
ORPHA:809 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Respiratory failure, Neonatal respiratory distress, Aspiration pneumonia |
OMIM:619057 |
Yellow Nail Syndrome |
|
Sinusitis, Neoplasm of the lung, Bronchiectasis, Rhinitis, Biliary tract neoplasm, Pulmonary arte... |
ORPHA:662 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Portal hyp... |
OMIM:616278 |
Hurler-Scheie Syndrome |
|
Rhinitis, Hepatomegaly, Abnormality of the tonsils, Splenomegaly |
ORPHA:93476 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Elliptocytosis 1 |
|
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly |
OMIM:611804 |
Panbronchiolitis, Diffuse |
|
Wheezing, Hypoxemia, Crackles, Bronchiectasis, Rhonchi, Cough |
OMIM:604809 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Increased inflammato... |
ORPHA:158061 |
Hepatoportal Sclerosis |
|
Leukopenia, Hepatocellular carcinoma, Ascites, Anemia, Recurrent infections, Nodular regenerative... |
ORPHA:64743 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormal... |
ORPHA:79301 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Jaundice, Reticulocytosis, Sphero... |
OMIM:109270 |
Griscelli Syndrome |
|
Hepatomegaly, Leukopenia, Ascites, Lymphadenopathy, Decreased circulating antibody level, Bone ma... |
ORPHA:381 |
Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Bronchiectasis, Rhinitis, Chronic otitis media, Chronic sinusitis,... |
OMIM:618063 |
Listeriosis |
|
Brain abscess, Sepsis, Myocarditis, Septic arthritis, Unusual CNS infection, Respiratory failure,... |
ORPHA:533 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Recurrent infection of the gastrointestinal tract, Hepatomegaly, Splenomegaly, Cirrhosis, Recurre... |
OMIM:613489 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Abnormality of the liver, Mala... |
ORPHA:398124 |
Gaucher Disease, Type I |
|
Hepatomegaly, Epistaxis, Pulmonary arterial hypertension, Anemia, Splenomegaly, Hypersplenism, Ab... |
OMIM:230800 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Neutropenia, Infectious encephalitis, Erythroderma, Lymphadenopathy, Reduced natura... |
ORPHA:540 |
Immunodeficiency 82 With Systemic Inflammation |
|
Lymphadenopathy, Hepatitis, Recurrent infections, Splenomegaly, Gastritis, Crohn's disease, Decre... |
OMIM:619381 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... |
OMIM:611881 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Exertional dyspnea, Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90037 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithiasis, Splenomega... |
OMIM:194380 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Sepsis, Psoriasiform dermatitis, Bronchiectasis, Recurrent bronchitis, Recurrent viral infections... |
ORPHA:293978 |
Typhoid |
|
Hepatomegaly, Infectious encephalitis, Epistaxis, Cough, Splenomegaly, Abnormal pulmonary interst... |
ORPHA:99745 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecystitis, Reticulocytosis, Jaundice |
OMIM:266200 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Leukocytosis, Hepatomegaly, Abnormal inflammatory response,... |
ORPHA:77297 |
Greenberg Dysplasia |
|
Hepatomegaly, Hepatic calcification, Abnormal lung lobation, Bone marrow hypocellularity, Cardiom... |
OMIM:215140 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Hepatomegaly, Pustule, Stomatitis, Abscess, Splenomegaly, Osteomyelitis, Respiratory distress, Ne... |
OMIM:612852 |
Harderoporphyria |
|
Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Reticulocytosis, Hemolytic anemia |
OMIM:618892 |
Coccidioidomycosis |
|
Lymphadenopathy, Pleural empyema, Unusual CNS infection, Eosinophilia, Morbilliform rash, Pericar... |
ORPHA:228123 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly |
OMIM:616719 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Impaired T cell function, Hepatomegaly, Recurrent candida infections, Splenomegaly |
OMIM:201100 |
Progressive Familial Intrahepatic Cholestasis |
|
Jaundice, Hepatomegaly, Cholestasis, Splenomegaly |
ORPHA:172 |
Sézary Syndrome |
|
Hepatomegaly, Erythroderma, Lymphadenopathy, Abnormal immunoglobulin level, Abnormal lymphocyte m... |
ORPHA:3162 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Eczema, Chronic otitis media, Recurrent infections, Cough, Osteomyelitis, Increased circulating I... |
ORPHA:2314 |
Microsporidiosis |
|
Sinusitis, Brain abscess, Cholangitis, Sepsis, Myocarditis, Hepatitis, Bronchitis, Infectious enc... |
ORPHA:2552 |
Ciliary Dyskinesia, Primary, 2 |
|
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Respiratory distress, Otitis media, Immotile cilia... |
OMIM:606763 |
Sitosterolemia 1 |
|
Stomatocytosis, Episodic hemolytic anemia, Arthritis, Splenomegaly, Abnormality of the liver, Gia... |
OMIM:210250 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Neonatal respiratory distress, Desquamative interstitial pneumonitis, Nonspecific interstitial pn... |
OMIM:610921 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Jaundice |
OMIM:619658 |
Muckle-Wells Syndrome |
|
Hepatomegaly, Episcleritis, Anemia, Arthritis, Splenomegaly, Uveitis, Skin rash, Restrictive vent... |
ORPHA:575 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
Osteopetrosis, Autosomal Dominant 3 |
|
Hepatomegaly, Anemia, Splenomegaly |
OMIM:618107 |
Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Neutropenia, Apnea, Splenomegaly, Abnormal pulmonary interstitial morphology, Recur... |
OMIM:617050 |
Postinfectious Vasculitis |
|
Severe varicella zoster infection, Recurrent candida infections, Inflammatory abnormality of the ... |
ORPHA:48435 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
ORPHA:3261 |
American Trypanosomiasis |
|
Myocarditis, Hepatomegaly, Infectious encephalitis, Lymphadenopathy, Cough, Splenomegaly, Skin ra... |
ORPHA:3386 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Recurrent upper respiratory tract infections, Pneumonia |
OMIM:300209 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Neutropenia, Pneumonia, Lymphadenopathy, Recurrent otitis media, Autoimmune thrombocytopenia, Rhe... |
OMIM:607944 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Ascites, Lymphadenopathy, Bone-marrow foam cells, Splenomegaly, Microcytic anemia, ... |
OMIM:257200 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Myositis, Lymphadenopathy, Panniculitis, Splenomegaly, Autoimmune hemolytic anemia |
OMIM:619183 |
Hemochromatosis, Type 2A |
|
Cirrhosis, Hepatomegaly, Arthritis, Splenomegaly |
OMIM:602390 |
Congenital Rubella Syndrome |
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Hepatomegaly, Anemia, Splenomegaly, Abnormality of the pulmonary artery, Skin rash, Thrombocytope... |
ORPHA:290 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
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Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... |
ORPHA:217563 |
Mucopolysaccharidosis-Plus Syndrome |
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Hepatomegaly, Sepsis, Neutropenia, Leukopenia, Recurrent bronchopulmonary infections, Nephritis, ... |
OMIM:617303 |
Gaucher Disease, Type Iii |
|
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:231000 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
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Spherocytosis, Splenomegaly |
ORPHA:66518 |
Wolman Disease |
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Hepatomegaly, Ascites, Bone-marrow foam cells, Anemia, Splenomegaly |
ORPHA:75233 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Leukocytosis, Prolonged neonatal jaundice, Heinz bodies, Splenomegaly, Fava bean-induced hemolyti... |
OMIM:300908 |
Cold Agglutinin Disease |
|
Lymphadenopathy, Hepatomegaly, Hemolytic anemia, Splenomegaly |
ORPHA:56425 |
Congenital Disorder Of Glycosylation, Type Iio |
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Hepatomegaly, Splenomegaly, Cirrhosis, Cholestatic liver disease, Hepatosplenomegaly, Prolonged n... |
OMIM:616828 |
Cryptococcosis |
|
Sepsis, Mediastinal lymphadenopathy, Pneumonia, Peritonitis, Prostatitis, Lymphoid leukemia, Coug... |
ORPHA:1546 |
Shigellosis |
|