Gene Summary

ARF GTPase activating protein 2,  Cat-2,  1500036H07Rik,  B230104M05Rik,  5830420E16Rik,  9630056M03Rik,  Cool associated tyrosine phosphorylated-2

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Legacy Phenotype Associated Images

View all 72 images

Human diseases caused by Git2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Git2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
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
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
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
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
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Chronic oral candidiasis, Exertio... ORPHA:723
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia, Dyspnea ORPHA:517
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
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
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
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
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
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
Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
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
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
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
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
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
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
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
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
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
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
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
Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:618892
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
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
Hepatomegaly, Anemia, Splenomegaly, Abnormality of the pulmonary artery, Skin rash, Thrombocytope... ORPHA:290
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... ORPHA:217563
Mucopolysaccharidosis-Plus Syndrome
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
Spherocytosis, Splenomegaly ORPHA:66518
Wolman Disease
Hepatomegaly, Ascites, Bone-marrow foam cells, Anemia, Splenomegaly ORPHA:75233
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
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
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestatic liver disease, Hepatosplenomegaly, Prolonged n... OMIM:616828
Sepsis, Mediastinal lymphadenopathy, Pneumonia, Peritonitis, Prostatitis, Lymphoid leukemia, Coug... ORPHA:1546