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Gene: Git2 MGI:1347053

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Gene Summary

Name:
GIT ArfGAP 2
Synonyms:
ARF GTPase activating protein 2,  Cat-2,  1500036H07Rik,  B230104M05Rik,  5830420E16Rik,  9630056M03Rik,  Cool associated tyrosine phosphorylated-2

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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
Git2Gt(XG510)Byg
HOM, Female, WTSI
Git2Gt(XG510)Byg
body, WT, Female, WTSI
Git2Gt(XG510)Byg
body, WT, Female, WTSI
Git2Gt(XG510)Byg
head, WT, Male, WTSI
Git2Gt(XG510)Byg
head, WT, Male, WTSI

View all 72 images

Git2Gt(XG510)Byg
back skin, HOM, Female, WTSI
Git2Gt(XG510)Byg
back skin, WT, Female, WTSI
Git2Gt(XG510)Byg
back skin, WT, Female, WTSI
Git2Gt(XG510)Byg
back skin, WT, Female, WTSI
Git2Gt(XG510)Byg
eye, cataracts, HOM, Female, WTSI
Git2Gt(XG510)Byg
eye, cataracts, HOM, Female, WTSI
Git2Gt(XG510)Byg
eye, cataracts, HOM, Female, WTSI
Git2Gt(XG510)Byg
tail skin, WT, Female, WTSI
Git2Gt(XG510)Byg
tail skin, WT, Female, WTSI

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
phenotypes		 Matching phenotypes Source
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Chronic pulmonary obstruction, Partial absence of specific antibody response to Haemophilus influ... OMIM:618986
Specific Granule Deficiency 1
Hyposegmentation of neutrophil nuclei, Absent neutrophil specific granules, Increased neutrophil ... OMIM:245480
Immunodeficiency 108 With Autoinflammation
Hyposegmentation of neutrophil nuclei, Recurrent aphthous stomatitis, Recurrent abscess formation... OMIM:260570
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Recurrent infections, Leukopenia, Extramedullary hematopoiesis, Anemia, Increased circulating ant... OMIM:615285
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Ski... OMIM:619374
Immunodeficiency 51
Recurrent respiratory infections, Eczema, Chronic mucocutaneous candidiasis, Abnormal lymphocyte ... OMIM:613953
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Immunodeficiency 53
Recurrent urinary tract infections, Impaired lymphocyte transformation with phytohemagglutinin, S... OMIM:617585
Immunodeficiency 86
BCGitis, Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immunodeficiency 32B
Recurrent respiratory infections, Impaired oxidative burst, Anemia, BCGitis, Hepatomegaly, Abnorm... OMIM:226990
Immunodeficiency 104
Failure to thrive secondary to recurrent infections, Hepatomegaly, T lymphocytopenia, Recurrent o... OMIM:608971
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Immunodeficiency 88
Asthma, BCGosis, Eosinophilia OMIM:619630
Immunodeficiency 48
Eczematoid dermatitis, Absence of CD8-positive T cells, Recurrent respiratory infections, Hepatom... OMIM:269840
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Recurrent respiratory infections, Decreased proportion of class-switched memo... OMIM:619126
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... OMIM:607594
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Recurrent respiratory infections, Recurren... OMIM:615513
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Sepsis, Hepatomegaly, Rec... OMIM:612840
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Persistent CMV viremia, Autoimmune thromboc... OMIM:619220
Immunodeficiency 52
Persistent CMV viremia, Recurrent infections, Autoimmune thrombocytopenia, Increased proportion o... OMIM:617514
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent respiratory infections, Persistent CMV viremia, Recurrent viral infections, Decreased C... OMIM:300853
Immunodeficiency 11B With Atopic Dermatitis
Disseminated molluscum contagiosum, Decreased circulating total IgM, Atopic dermatitis, Severe cy... OMIM:617638
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Pneumonia, Decreased proportion of CD4-positive helpe... OMIM:312863
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly, Anemia ORPHA:294
Idiopathic Acute Eosinophilic Pneumonia
Restrictive ventilatory defect, Cough, Abnormal pleura morphology, Respiratory insufficiency, Abn... ORPHA:724
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Decreased circulating total IgM, Impaired lymphocyte transformation wit... OMIM:300400
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Decreased circulating total IgM, Decreased CD4:CD8 ratio, Com... OMIM:607271
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Recurrent otitis media, Bronchiolitis, Periodontitis, Pneumonia... OMIM:266265
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hepatosplenomegaly, Recurrent tonsillitis, Hemolytic anemia, Impaired oxidative burst, Abscess, G... OMIM:618935
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Pneumonia, Recurrent upper respiratory tract infections, Abnormally low T cell... OMIM:618806
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Molluscum contagiosum, Increased circulating IgE level, Herpes simplex enceph... OMIM:618982
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent E. coli infections, Eczematoid dermatitis, Liver abscess, Impaired oxidative burst, Gra... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent E. coli infections, Eczematoid dermatitis, Liver abscess, Impaired oxidative burst, Gra... OMIM:233710
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Reduction of neutrophil motility, Impaired oxidative burst, Macrocytic anemia, Impa... OMIM:608203
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Hepatosplenomegaly, Increased circulating antibody level, Decreased proportion of CD3-positive T ... ORPHA:169160
Immunodeficiency 62
Decreased proportion of memory B cells, Decreased circulating total IgM, Reduced isohemagglutinin... OMIM:618459
Trimethylaminuria
Recurrent pneumonia, Neutropenia, Splenomegaly, Anemia OMIM:602079
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent E. coli infections, Eczematoid dermatitis, Liver abscess, Impaired oxidative burst, Gra... OMIM:233690
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Meningitis, Failure to thrive secondary to recurrent infections, Arthritis, Purulent rhinitis, B ... OMIM:601457
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Increased circulating antibody level, Plasmacytosis, Autoimmune hemolytic ane... OMIM:247800
Immunodeficiency With Hyper-Igm, Type 4
Impaired Ig class switch recombination, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia,... OMIM:608184
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia, Perianal abscess, B lymphocytopenia, Sple... OMIM:619437
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Chronic otitis media, Atopic dermatitis, Recurrent viral infect... ORPHA:217390
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Meningitis... OMIM:212050
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly, Recurrent infections OMIM:606445
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent viral infections, Recurrent bacterial infections, Bro... OMIM:608957
Allergic Bronchopulmonary Aspergillosis
Pulmonary arterial hypertension, Respiratory insufficiency, Cough, Bronchiectasis, Emphysema, Ast... ORPHA:1164
Eosinophilia, Familial
Leukocytosis, Anemia, Eosinophilia, Thrombocytopenia, Recurrent bronchitis OMIM:131400
Granulomatous Disease, Chronic, X-Linked
Eczematoid dermatitis, Atelectasis, Impaired oxidative burst, Granuloma, Hepatomegaly, Recurrent ... OMIM:306400
Immunodeficiency, Common Variable, 2
Meningitis, Decreased circulating IgA level, Hepatomegaly, Impaired T cell function, Recurrent ba... OMIM:240500
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... OMIM:616452
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Recurrent infections, Recurrent aphthous stomatitis, Abscess, Neut... OMIM:150550
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Meningitis, Skin rash, A... ORPHA:229717
Eosinophilopenia
Allergic rhinitis, Decreased eosinophil count OMIM:131430
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Respirat... ORPHA:444463
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Increased circulating antibody level, Anemia, Neutropenia, Recurrent ba... OMIM:202700
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Recurrent infections, Hemolytic anemia, Increased circulating a... OMIM:614470
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Combined Immunodeficiency Due To Zap70 Deficiency
Colitis, Chronic oral candidiasis, Hepatosplenomegaly, Recurrent bacterial skin infections, Lymph... ORPHA:911
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies, Jaundice, Meningitis, Sepsis, Severe infect... ORPHA:464370
Immunodeficiency 76
Colitis, Lymphopenia, Recurrent pneumonia, B lymphocytopenia, Lymphadenopathy, Recurrent bronchio... OMIM:619164
Immunodeficiency 102
Chronic sinusitis, Partial absence of specific antibody response to Haemophilus influenzae type b... OMIM:301082
Encephalopathy Due To Prosaposin Deficiency
Respiratory insufficiency, Recurrent respiratory infections, Hepatomegaly, Splenomegaly ORPHA:139406
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Recurrent respiratory infections, Chronic (near) absent circu... OMIM:614699
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Hepatomegaly, Recurrent herpes, Chronic oral candid... ORPHA:276
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Pigment gallstones, Spontaneous hemolytic crises, Impaired neutrophil bactericidal acti... OMIM:613470
Immunodeficiency 27A
Hepatosplenomegaly, Abnormal bronchus physiology, Leukocytosis, Anemia, Histiocytosis, Increased ... OMIM:209950
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Colitis, Abnormal natural killer cell physiology, T... OMIM:613101
Leukocyte Adhesion Deficiency
Peritonitis, Leukocytosis, Polycythemia, Chronic oral candidiasis, Recurrent fungal infections, I... ORPHA:2968
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Sepsis, Autoimmune hemolytic anemia, B lymp... ORPHA:231154
Ichthyosis-Prematurity Syndrome
Neonatal respiratory distress, Eosinophilia ORPHA:88621
Immunodeficiency 64 With Lymphoproliferation
Hepatosplenomegaly, Increased circulating IgA level, Recurrent infections, Cervical lymphadenopat... OMIM:618534
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent sinopulmonary infections, Decreased circulating total IgM, Atopic dermatitis, Dissemina... OMIM:243700
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Recurrent infections, Chronic pulmonary obstruction, Autoimmu... OMIM:616576
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Decreased circulating total IgM, Meningitis, Decreased circulat... OMIM:613500
Immunodeficiency 13
Decreased CD4:CD8 ratio, Recurrent shingles, Bronchiolitis obliterans organizing pneumonia, Lymph... OMIM:615518
Lymphoproliferative Syndrome 2
Hepatosplenomegaly, Recurrent infections, EBV meningitis, Hemophagocytosis, Aplastic anemia, Seps... OMIM:615122
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
BCGosis, Severe toxoplasmosis, Lymphadenitis, Coccidioidomycosis, Recurrent Klebsiella infections... ORPHA:319552
Omenn Syndrome
Hypoplasia of the thymus, Recurrent viral infections, Anemia, Severe B lymphocytopenia, Hepatomeg... OMIM:603554
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent urinary tract infections, Recurrent respiratory infections, Persistent CMV viremia, Dec... OMIM:618495
Indolent Systemic Mastocytosis
Maculopapular exanthema, Skin rash, Abnormal mast cell morphology, Hepatomegaly, Lymphadenopathy,... ORPHA:98848
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Shwachman-Diamond Syndrome
Hepatomegaly, Macrocytic anemia, Acute myeloid leukemia, Pancreatic hypoplasia, Leukopenia, Normo... ORPHA:811
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent respiratory infections, Inflammation of the large intestine, Hemophagocytosis, Aplastic... OMIM:300635
Niemann-Pick Disease, Type B
Recurrent respiratory infections, Dyspnea, Decreased DLCO, Bone-marrow foam cells, Anemia, Hepato... OMIM:607616
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Absent tonsils, BCGitis, Increased circulating IgE level, Sepsis, He... OMIM:602450
Hemoglobin H Disease
HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly OMIM:613978
Immunodeficiency 7
Recurrent respiratory infections, Hypereosinophilia, Autoimmune hemolytic anemia, Hepatomegaly, C... OMIM:615387
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Chronic sinusitis, Abnormal T cell morphology, Decreased circula... OMIM:613502
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Immunodeficiency 42
Hypoplasia of the thymus, BCGosis, Recurrent aphthous stomatitis, Hepatomegaly, Chronic oral cand... OMIM:616622
Whim Syndrome 1
Recurrent bacterial infections, Decreased circulating IgG level, Bronchiectasis, Recurrent upper ... OMIM:193670
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Hepatomegaly, Splenomegaly, Anemia ORPHA:46532
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Abnormal macrophage morphology, Abnormal platelet function, Abn... ORPHA:2585
Immunodeficiency 69
Hepatosplenomegaly, Leukocytosis, BCGosis, Anemia, Skin rash, Pancytopenia, Thrombocytosis, Splen... OMIM:618963
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent lower respiratory tract infections, Reduced natural killer cell activity, Hepatomegaly,... OMIM:615559
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Eczematoid dermatitis, Severe infection, Chronic oral candidiasis, Decrease... ORPHA:83471
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Dyspnea, Chronic pulmonary obstruction, Cough, Chronic bronchitis, Cirr... OMIM:613490
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased specific antibody response to vaccination, Colitis, B lymphocytopenia, Erythema nodosum... OMIM:614700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, Chronic bronchitis, Decreased circulating IgA level, Decreased c... OMIM:614069
Mast Cell Sarcoma
Mediastinal lymphadenopathy, Hepatomegaly, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Microlissencephaly
Polymicrogyria, Simplified gyral pattern, Subcortical heterotopia, Pachygyria, Pneumonia, Lissenc... ORPHA:1083
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Chronic otitis media, Chronic sinusitis, Cough, Chronic rhinitis, ... OMIM:612444
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Dyspnea, Splenomegaly, Hemolytic anemia ORPHA:228312
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Recurrent sinopulmonary infections, Decreased circulating... OMIM:618394
Autosomal Dominant Severe Congenital Neutropenia
Recurrent sinopulmonary infections, Recurrent viral infections, Aplastic anemia, Recurrent aphtho... ORPHA:486
Tularemia
Leukocytosis, Cervical lymphadenopathy, Increased circulating antibody level, Skin rash, Cough, A... ORPHA:3392
T-Cell Immunodeficiency With Thymic Aplasia
Hepatosplenomegaly, Eczematoid dermatitis, Recurrent viral infections, Lymphopenia, Reduced delay... OMIM:242700
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Abnormal hemoglobin, Anemia, Thrombocytopenia, Splenomegaly ORPHA:231393
Acute Myelomonocytic Leukemia
Dyspnea, Leukocytosis, Anemia, Eosinophilia, Thrombocytopenia ORPHA:517
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Increased circulating antibody level, Respiratory insufficienc... ORPHA:723
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating total IgM, Autoimmune thrombocytopenia, Sepsis, Autoimmune hemolytic anemia... OMIM:616100
Immunodeficiency 25
Increased circulating IgA level, Decreased circulating IgG2 level, Increased circulating IgE leve... OMIM:610163
Beta-Thalassemia, Dominant Inclusion Body Type
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre... OMIM:603902
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Recurrent urinary tract infections, Abnorma... OMIM:613179
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Primary Myelofibrosis
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Portal hype... ORPHA:824
Immunodeficiency 92
Cholangitis, Decreased proportion of class-switched memory B cells, Persistent CMV viremia, Leuko... OMIM:619652
Immunodeficiency 36 With Lymphoproliferation
Decreased proportion of naive CD8 T cells, Persistent CMV viremia, Chronic lymphatic leukemia, Re... OMIM:616005
Ciliary Dyskinesia, Primary, 25
Neonatal respiratory distress, Recurrent respiratory infections, Chronic pulmonary obstruction, P... OMIM:615482
Alpha-Thalassemia-Myelodysplastic Syndrome
Dyspnea, HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutr... ORPHA:231401
Cyclic Neutropenia
Peritonitis, Recurrent tonsillitis, Cervical lymphadenopathy, Sepsis, Severe infection, Lymphopen... ORPHA:2686
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating total IgM, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, ... OMIM:619824
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Chronic sinusitis, Atelectasis, Decreased nasal nitric oxide, Recu... OMIM:615294
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD3-positive T cells, Recurrent lower respiratory tract infections, Decre... ORPHA:169154
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Jaundice OMIM:206400
Ciliary Dyskinesia, Primary, 41
Impaired nasal mucociliary clearance, Immotile sperm, Recurrent otitis media, Bronchiectasis, Rec... OMIM:618449
Osteopetrosis, Autosomal Recessive 2
Hepatosplenomegaly, Extramedullary hematopoiesis, Anemia, Thrombocytopenia, Chronic rhinitis due ... OMIM:259710
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Dyspnea, Reduced FEV1/FVC ratio, Decreased DLCO, Cough, Decreased forced expiratory flow 25-75%, ... ORPHA:1303
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Inflammation of the large intestine, Skin rash, Partial absence... OMIM:618108
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic sinusitis, Recurrent shingles, Recurrent lower respiratory tract infections, Recurrent he... ORPHA:183675
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Chediak-Higashi Syndrome
Giant neutrophil granules, Jaundice, Recurrent infections, Leukopenia, Hemophagocytosis, Anemia, ... OMIM:214500
Felty Syndrome
Chronic otitis media, Pleuritis, Hepatomegaly, Episcleritis, Synovitis, Recurrent infections, Rec... ORPHA:47612
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Recurrent respiratory infections, Atopic dermatitis, Recurrent infections, Increased circulating ... OMIM:618282
Idiopathic Bronchiectasis
Dyspnea, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Wheezing, Productive cou... ORPHA:60033
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Recurrent infections, Reduced natural killer cell count, Panhyp... OMIM:615214
Slc35A1-Cdg
Hypoxemia, Abnormal platelet granules, Respiratory distress, Giant platelets, Thrombocytopenia, P... ORPHA:238459
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Hemophagocytosis, Aplastic anemia, Meningitis, Fulminant hepati... OMIM:308240
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Hepatomegaly, Splenomegaly, Eosinophilia OMIM:607685
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Chronic sinusitis, Decreased circulating IgA level, Recurrent ba... OMIM:612692
Combined Immunodeficiency Due To Crac Channel Dysfunction
Chronic otitis media, Recurrent viral infections, Hemolytic anemia, Meningitis, Sepsis, Hepatomeg... ORPHA:169090
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Hepatomegaly, Recurrent fungal infections, B lymphocytopeni... OMIM:102700
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Leukocytosis, Respiratory insufficiency, Intraalveolar phosphol... OMIM:618042
Erythroleukemia, Familial, Susceptibility To
Anemia, Leukemia, Hepatomegaly, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myel... OMIM:133180
Necrobiosis Lipoidica
Granuloma, Inflammatory abnormality of the skin, Abnormality of neutrophil physiology ORPHA:542592
Immunodeficiency With Hyper-Igm, Type 1
Chronic hepatitis, Hemolytic anemia, Hypoxemia, Recurrent lower respiratory tract infections, Hep... OMIM:308230
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hepatosplenomegaly, Eosinophilic liver infiltration, Atopic dermatitis, Recurrent viral infection... OMIM:618999
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Hepatocellular carcinoma, Pulmonary arterial hypertension, Jaundice, Leukocyt... ORPHA:231222
Selective Igm Deficiency
Chronic sinusitis, Recurrent shingles, Decreased specific antibody response to vaccination, Decre... ORPHA:331235
Complement Factor B Deficiency
Peritonitis, Meningitis, Recurrent bacterial infections, Pneumonia, Recurrent meningococcal disease OMIM:615561
Scedosporiosis
Pleuritis, Severe infection, Fungal meningitis, Respiratory failure, Endocarditis, Sinusitis, Bro... ORPHA:449280
Immunodeficiency 97 With Autoinflammation
Recurrent sinopulmonary infections, Hemophagocytosis, Granuloma, Colitis, Hepatosplenomegaly, Rec... OMIM:619802
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Chronic bronchitis, Chronic rhinitis, Respirator... OMIM:615451
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Chronic rhinitis, Decreased nasal nitri... OMIM:618695
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Ciliary Dyskinesia, Primary, 33
Atelectasis, Cough, Chronic rhinitis, Recurrent lower respiratory tract infections, Recurrent oti... OMIM:616726
Ciliary Dyskinesia, Primary, 14
Neonatal respiratory distress, Recurrent respiratory infections, Chronic sinusitis, Reduced sperm... OMIM:613807
Hereditary Spherocytosis
Jaundice, Maculopapular exanthema, Gout, Increased mean corpuscular hemoglobin concentration, Ret... ORPHA:822
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Chronic sinusitis, Chronic pulmonary obstruction, Atelectasis, ... OMIM:253240
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Pulmonary arterial hypertension, Extramedullary hematopoiesis, Anemia, Respiratory insufficiency,... OMIM:617021
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased proportion of CD3-positive T cells, Hepatomegaly, Recurrent fungal infections, Reduced ... ORPHA:331206
Immunodeficiency 98 With Autoinflammation, X-Linked
Recurrent infections, Hemophagocytosis, Recurrent aphthous stomatitis, Bone marrow hypocellularit... OMIM:301078
Ciliary Dyskinesia, Primary, 39
Cough, Recurrent lower respiratory tract infections, Decreased nasal nitric oxide, Chronic lung d... OMIM:618254
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Recurrent sinopulmonary infections, Skin rash, Increased circulating IgE l... OMIM:147060
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Hemophagocytosis, Skin rash, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, C... OMIM:603552
Immunodeficiency 16
Pancytopenia, Splenomegaly, Coombs-positive hemolytic anemia OMIM:615593
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral hepatitis, Meningitis, Recurrent enteroviral infe... OMIM:307200
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly, Skin rash OMIM:619175
Aspergillosis
Pleuritis, Chronic pulmonary obstruction, Dyspnea, Sinusitis, Unusual CNS infection, Abnormality ... ORPHA:1163
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Staphylococcal Necrotizing Pneumonia
Dyspnea, Tachypnea, Leukocytosis, Leukopenia, Cough, Sepsis, Hypoxemia, Nonproductive cough, Neut... ORPHA:36238
Juvenile Temporal Arteritis
Leukocytosis, Conjunctivitis, Allergic rhinitis, Eosinophilia ORPHA:26137
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Chronic otitis media, Recurrent respiratory infections, Atelectasis, Respiratory distress, Bronch... OMIM:619466
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Abnormal... OMIM:600802
Immunodeficiency 89 And Autoimmunity
Increased circulating IgA level, Pulmonary bulla, Increased circulating IgE level, Recurrent lowe... OMIM:619632
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Leukocytosis, Inflammation of the large intestine, Colitis, Decr... OMIM:619281
Acquired Idiopathic Sideroblastic Anemia
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Bone ... ORPHA:75564
Agammaglobulinemia, X-Linked
Recurrent lower respiratory tract infections, B lymphocytopenia, Complete or near-complete absenc... OMIM:300755
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Neutropenia, Recurrent bacter... OMIM:601495
Ciliary Dyskinesia, Primary, 27
Neonatal respiratory distress, Recurrent respiratory infections, Chronic sinusitis, Chronic bronc... OMIM:615504
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Abnormal pleura morphology, Lymphopenia, Arthritis, Eosinophilia ORPHA:2582
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Recurrent respiratory infections, Increased circulating IgE level, Eosinophilia, Recurrent otitis... OMIM:618523
Hyperbilirubinemia, Shunt, Primary
Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Erythroid hyperplasia, ... OMIM:237800
Young Syndrome
Recurrent sinopulmonary infections, Recurrent bronchitis, Bronchiectasis, Congenital pulmonary ai... OMIM:279000
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Hepatomegaly, Microcytic anemia, Lymphadenopathy, Splenomegaly OMIM:618852
Immunodeficiency 77
Recurrent tonsillitis, Chronic pulmonary obstruction, Bronchiectasis, Cutaneous abscess, Nontuber... OMIM:619223
Dominant Beta-Thalassemia
Hepatosplenomegaly, Anisocytosis, Hepatocellular carcinoma, Dyspnea, Jaundice, Chronic hepatitis,... ORPHA:231226
Ciliary Dyskinesia, Primary, 3
Neonatal respiratory distress, Recurrent respiratory infections, Decreased nasal nitric oxide, Re... OMIM:608644
Gaucher Disease Type 2
Recurrent respiratory infections, Cough, Hepatomegaly, Respiratory distress, Abnormal pattern of ... ORPHA:77260
Melioidosis
Splenic abscess, Lung abscess, Liver abscess, Sepsis, Osteoarthritis, Respiratory tract infection... ORPHA:31202
Generalized Eruptive Histiocytosis
Hypereosinophilia, Maculopapular exanthema, Leukemia, Histiocytosis, Lymphadenopathy ORPHA:157991
Immunodeficiency 56
Cholangitis, Recurrent respiratory infections, Recurrent infections, Recurrent infection of the g... OMIM:615207
Ciliary Dyskinesia, Primary, 36, X-Linked
Neonatal respiratory distress, Chronic otitis media, Recurrent respiratory infections, Cough, Dec... OMIM:300991
Beta-Thalassemia Major
Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Dyspnea, Anisopoikilocytosis, Extramedull... ORPHA:231214
Mounier-Kühn Syndrome
Recurrent respiratory infections, Bronchitis, Pneumonia, Recurrent bronchopulmonary infections ORPHA:3347
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Ciliary Dyskinesia, Primary, 11
Neonatal respiratory distress, Recurrent respiratory infections, Chronic bronchitis, Chronic rhin... OMIM:612649
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Glomerul... OMIM:619375
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Severe infection, Hypochr... ORPHA:251380
Felty Syndrome
Neutropenia, Splenomegaly, Rheumatoid arthritis OMIM:134750
Pulmonary Alveolar Proteinosis, Acquired
Inspiratory crackles, Recurrent respiratory infections, Dyspnea, Lung abscess, Decreased DLCO, Re... OMIM:610910
Omenn Syndrome
Leukocytosis, Anemia, Sepsis, Abnormal lymphocyte morphology, Hepatomegaly, Splenomegaly, Eosinop... ORPHA:39041
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating total IgM, Atopic dermatitis, Increased circulating IgE level, Neutropenia,... OMIM:619752
Idiopathic Achalasia
Cough, Bronchitis, Recurrent aspiration pneumonia, Wheezing ORPHA:930
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Increased ... OMIM:601859
Sarcoidosis, Susceptibility To, 2
Pulmonary arterial hypertension, Dyspnea, Restrictive ventilatory defect, Uveitis, Hypoxemia, Hep... OMIM:612387
Kimura Disease
Increased circulating IgE level, Follicular hyperplasia, Lymphadenopathy, Eosinophilia ORPHA:482
Eosinophilic Fasciitis
Arthritis, Eosinophilia, Fasciitis, Myositis, Abnormal eosinophil morphology ORPHA:3165
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Hemophagocytosis, Recurrent streptococcal infections, Periodontitis, Epis... ORPHA:167
Lymphoproliferative Syndrome 1
Leukopenia, Stomatitis, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatom... OMIM:613011
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Autosomal Agammaglobulinemia
Chronic otitis media, Recurrent respiratory infections, Recurrent infections, Meningitis, Skin ra... ORPHA:33110
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Hepatosplenomegaly, Recurrent respiratory infections, Recurrent enteroviral infecti... ORPHA:79124
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Decreased proportion of class-switched memory B cells, Decrea... OMIM:614878
Ciliary Dyskinesia, Primary, 7
Reduced FEV1/FVC ratio, Restrictive ventilatory defect, Cough, Abnormal ciliary motility, Chronic... OMIM:611884
Good Syndrome
Recurrent urinary tract infections, Recurrent respiratory infections, Aplasia/Hypoplasia of the t... ORPHA:169105
Common Variable Immunodeficiency
Chronic otitis media, Recurrent respiratory infections, Hemolytic anemia, Abnormality of the live... ORPHA:1572
Immunodeficiency 40
Eosinophilic granuloma, Focal active colitis, Hepatomegaly, Chronic oral candidiasis, Respiratory... OMIM:616433
Ciliary Dyskinesia, Primary, 26
Neonatal respiratory distress, Recurrent respiratory infections, Chronic bronchitis, Respiratory ... OMIM:615500
Ciliary Dyskinesia, Primary, 28
Neonatal respiratory distress, Recurrent respiratory infections, Chronic bronchitis, Respiratory ... OMIM:615505
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis OMIM:269600
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Fusariosis
Peritonitis, Maculopapular exanthema, Productive cough, Granuloma, Abnormality of the spleen, Abn... ORPHA:228119
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Chronic rhinitis, Decreased nasal n... OMIM:615481
Hemoglobin E Disease
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... ORPHA:2133
Ciliary Dyskinesia, Primary, 12
Neonatal respiratory distress, Chronic otitis media, Chronic sinusitis, Recurrent respiratory inf... OMIM:612650
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis, Cardiorespiratory arrest, Erythroderma ORPHA:280785
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Upper airway obstruction, Dyspnea, Aspiration pneumonia ORPHA:141152
Immunodeficiency 54
Recurrent respiratory infections, Recurrent viral infections, Respiratory insufficiency, Hepatome... OMIM:609981
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Polymicrogyria, Aspiration pneumonia, Pachygyria OMIM:609528
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Desquamative interstiti... OMIM:615952
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Dyspnea, Abnormal respiratory system physiology, Reduc... ORPHA:133
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Recurrent respiratory infections, Chronic bronchitis, Chronic rhin... OMIM:608647
Sandhoff Disease
Recurrent respiratory infections, Hepatomegaly, Splenomegaly ORPHA:796
Chronic Granulomatous Disease
Recurrent respiratory infections, Liver abscess, Chronic pulmonary obstruction, Meningitis, Abnor... ORPHA:379
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Meningitis, Skin rash, Anemia, Uveitis, Arthritis, Eosinophilia... OMIM:607115
Whim Syndrome
Atelectasis, Meningitis, Sepsis, Severe periodontitis, Lymphadenitis, Lymphopenia, Respiratory tr... ORPHA:51636
Mu-Heavy Chain Disease
Abnormal B cell count, Increased circulating antibody level, Anemia, Hepatomegaly, Lymphadenopath... ORPHA:100024
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Bronchiectasis, Recurrent lower respiratory tract infections, Re... OMIM:615139
Pgm3-Cdg
Chronic otitis media, Chronic sinusitis, Hemolytic anemia, Decreased proportion of CD3-positive T... ORPHA:443811
Babesiosis
Jaundice, Leukopenia, Hemolytic anemia, Respiratory insufficiency, Cough, Hepatomegaly, Thrombocy... ORPHA:108
Ciliary Dyskinesia, Primary, 15
Neonatal respiratory distress, Recurrent respiratory infections, Chronic sinusitis, Cough, Immoti... OMIM:613808
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Leukocytosis, Maculopapular exanthema, Anemia, Leukemia, Abnormal mast cell m... ORPHA:98850
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent urinary tract infections, Recurrent respiratory infections, Decreased circulating total... OMIM:620210
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased proportion of HLA DR+ T cells, Hepatomegaly, Increased circulating IgM level, Reduced d... OMIM:603909
Alpha-Thalassemia
Jaundice, Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Cholel... ORPHA:846
Gray Platelet Syndrome
Epistaxis, Thrombocytopenia, Splenomegaly ORPHA:721
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Chronic otitis media, Chronic sinusitis, Productive cough, Chronic... OMIM:617092
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Immotile sperm, Chronic rhinitis, Decreased nasal nitric oxide, Br... OMIM:617091
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Bronchitis, Atelectasis, Respiratory insufficiency, Productive ... ORPHA:3348
Follicular Lymphoma
Abnormality of the peritoneum, Meningitis, Lymphadenopathy, Mediastinal lymphadenopathy, Pleural ... ORPHA:545
Ciliary Dyskinesia, Primary, 32
Neonatal respiratory distress, Recurrent respiratory infections, Chronic sinusitis, Chronic pulmo... OMIM:616481
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Jaundice, Reticulocytosis, Anemia, Hepatomegaly, Anemia of inadequate production, E... OMIM:615631
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
X-Linked Sideroblastic Anemia
Dyspnea, Splenomegaly, Anemia ORPHA:75563
Say-Barber-Miller Syndrome
Decreased circulating antibody level, Impaired neutrophil chemotaxis, Panniculitis, Decreased cir... ORPHA:3132
Deafness-Lymphedema-Leukemia Syndrome
Chronic otitis media, Recurrent respiratory infections, Myeloproliferative disorder, Leukocytosis... ORPHA:3226
X-Linked Lymphoproliferative Disease
Myocarditis, Hemophagocytosis, Fulminant hepatitis, Colitis, Histiocytosis, Increased circulating... ORPHA:2442
Immunodeficiency 43
Recurrent respiratory infections, Lung abscess, Reduced natural killer cell count, Decreased circ... OMIM:241600
Congenital Bile Acid Synthesis Defect Type 2
Jaundice, Extramedullary hematopoiesis, Cholestasis, Hepatomegaly, Prolonged neonatal jaundice, G... ORPHA:79303
Adult-Onset Still Disease
Myocarditis, Generalized lymphadenopathy, Pleuritis, Leukocytosis, Meningitis, Skin rash, Restric... ORPHA:829
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... ORPHA:521
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thr... OMIM:187950
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Hemolytic anemia, Reduced platelet alpha granules, Increased RBC distribution wi... OMIM:314050
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Absent ci... OMIM:619705
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Reticulocytosis, Splenomegaly OMIM:179700
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Chronic sinusitis, Productive cough, Chronic rhinitis, Recurrent l... OMIM:618699
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Spherocytosis, Type 5
Jaundice, Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Immunodeficiency 23
Recurrent respiratory infections, Hemolytic anemia, Molluscum contagiosum, Abscess, Increased cir... OMIM:615816
Avian Influenza
Dyspnea, Tachypnea, Leukopenia, Meningitis, Cough, Productive cough, Sepsis, Hypoxemia, Nonproduc... ORPHA:454836
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Anisocytosis, Reticulocytosis, Anemia, Abnormal erythrocy... ORPHA:766
Alpha-Heavy Chain Disease
Anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Dysgammaglobulinemia, Ascites ORPHA:100025
Spondylometaphyseal Dysplasia, Axial
Restrictive ventilatory defect, Recurrent pneumonia, Reduced sperm motility, Splenomegaly OMIM:602271
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Dyspnea, Atopic dermatitis, Leukocytosis, Atelectasis, Restrictive ventilatory... ORPHA:2902
Osteopetrosis, Autosomal Recessive 5
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Thrombocyto... OMIM:259720
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Chilblains, Thrombocytopenia, Splenomegaly OMIM:615010
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reticulocytosis, Anemia of inadequate production, Cholelithiasis, Splenomegaly OMIM:224100
Pfapa Syndrome
Hepatomegaly, Arthritis, Infectious encephalitis, Lymphadenopathy, Recurrent pharyngitis, Splenom... ORPHA:42642
Hodgkin Lymphoma
Dyspnea, Cough, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:98293
Schnitzler Syndrome
Leukocytosis, Anemia, Skin rash, Hepatomegaly, Arthritis, Increased circulating IgM level, Lympha... ORPHA:37748
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Skin rash, Hepatomegaly, Anemia of inadequate production, Allergic rhinitis, Asthma, Sp... OMIM:612714
Immunodeficiency 12
Absent isohemagglutinin level, Recurrent viral infections, Abnormal lymphocyte count, Skin rash, ... OMIM:615468
Netherton Syndrome
Recurrent respiratory infections, Hypereosinophilia, Increased circulating IgE level, Sepsis, Rec... OMIM:256500
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Anemia, Autoimmune thrombocytopenia, Increased circulating IgE level, Neutrop... OMIM:304790
Hemophagocytic Syndrome Associated With An Infection
Histoplasmosis, Severe cytomegalovirus infection, Chronic active Epstein-Barr virus infection, He... ORPHA:158048
Interstitial Lung Disease 1
Dyspnea, Intralobular septal thickening, Decreased DLCO, Restrictive ventilatory defect, Cough, I... OMIM:619611
Bacterial Toxic-Shock Syndrome
Peritonitis, Myocarditis, Severe infection, Severe varicella zoster infection, Increased circulat... ORPHA:36234
Portal Hypertension, Noncirrhotic, 2
Hepatocellular carcinoma, Recurrent infections, Hepatomegaly, Portal hypertension, Thrombocytopen... OMIM:619463
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Eczematoid dermatitis, Inflammatory abnormality of the skin, Colitis, Gastritis, Crusting erythem... ORPHA:37042
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Chronic sinusitis, Cough, Chronic rhinitis, Recurrent otitis me... OMIM:614679
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Jaundice, Anemia, Decreased mean corpuscular volume, Hypochromi... OMIM:616860
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Skin rash, Recurrent aphthous stomatitis, Arthritis, Lymphadenopathy, Splenomegaly,... OMIM:611762
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Leishmaniasis
Abnormal macrophage morphology, Leukopenia, Increased circulating antibody level, Anemia, Hepatom... ORPHA:507
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Rigid Spine Syndrome
Respiratory insufficiency, Abnormality on pulmonary function testing, Pneumonia ORPHA:97244
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
Ciliary Dyskinesia, Primary, 1
Chronic otitis media, Chronic sinusitis, Atelectasis, Asplenia, Chronic rhinitis, Bronchiectasis,... OMIM:244400
Pulmonary Non-Tuberculous Mycobacterial Infection
Dyspnea, Chronic pulmonary obstruction, Cough, Respiratory distress, Bronchiectasis, Lymphadenopa... ORPHA:411703
Gamma-Heavy Chain Disease
Recurrent respiratory infections, Anemia, Skin rash, Autoimmune thrombocytopenia, Autoimmune hemo... ORPHA:100026
Q Fever
Myocarditis, Maculopapular exanthema, Granuloma, Hepatomegaly, Unusual infection, Hepatosplenomeg... ORPHA:781
Ciliary Dyskinesia, Primary, 22
Neonatal respiratory distress, Recurrent respiratory infections, Chronic bronchitis, Respiratory ... OMIM:615444
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Inspiratory crackles, Dyspnea, Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Decreased D... ORPHA:79127
Autoinflammation With Infantile Enterocolitis
Diffuse alveolar hemorrhage, Meningitis, Skin rash, Anemia, Reduced natural killer cell count, Re... OMIM:616050
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Asthma, Recurrent infections, Eosinophilia OMIM:618092
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Hypoxemia, Reduced forced vital capacity, Respiratory fail... OMIM:610913
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Familial Nasal Acilia
Dyspnea, Chronic sinusitis, Atelectasis, Chronic rhinitis, Respiratory distress, Bronchiectasis, ... ORPHA:922
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Recurrent respiratory infections, Chronic rhinitis, Immotile cilia OMIM:618801
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Cough, Honeycomb lung, Pulmonary fibrosis, Bronchiectasis, A... ORPHA:2032
Immunodeficiency 58
Chronic otitis media, Chronic pulmonary obstruction, Decreased specific antibody response to vacc... OMIM:618131
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Aplasia/Hypoplasia of the lungs, Anemia, Respiratory insufficiency, Splenomegaly, Ascites ORPHA:1046
Osteopetrosis, Autosomal Recessive 3
Hepatosplenomegaly, Extramedullary hematopoiesis, Anemia OMIM:259730
Proteasome-Associated Autoinflammatory Syndrome 3
Recurrent infections, Increased circulating antibody level, Skin rash, Anemia, Myositis, Hepatome... OMIM:617591
Dehydrated Hereditary Stomatocytosis 2
Jaundice, Anisopoikilocytosis, Reticulocytosis, Increased mean corpuscular hemoglobin concentrati... OMIM:616689
Wiskott-Aldrich Syndrome
Chronic otitis media, Chronic pulmonary obstruction, Hemolytic anemia, Epistaxis, Recurrent respi... ORPHA:906
Graft Versus Host Disease
Gastrointestinal inflammation, Acute hepatitis, Hepatosplenomegaly, Jaundice, Maculopapular exant... ORPHA:39812
Immunodeficiency 65, Susceptibility To Viral Infections
Recurrent gastroenteritis, Recurrent viral infections, Bronchiectasis, Stomatitis OMIM:618648
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Splenomegaly, Fetal ascites OMIM:619462
Prolidase Deficiency
Increased circulating antibody level, Anemia, Hepatomegaly, Prolonged neonatal jaundice, Chronic ... OMIM:170100
Tyrosinemia Type 1
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Acute Lung Injury
Dyspnea, Diffuse alveolar hemorrhage, Sepsis, Hypoxemia, Respiratory distress, Acute pancreatitis... ORPHA:178320
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Hepatosplenomegaly, Acute otitis media, Recurrent respiratory infections, Impaired lymphocyte tra... ORPHA:35078
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Aplasia/Hypoplasia of the lungs, Hepatomegaly, Splenomegaly, Abnormality of neuronal migration ORPHA:2204
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hepatomegaly, Hypersplenism, Thrombocytopenia, Splenomegaly OMIM:610539
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Dyspnea, Tubulointerstitial nephritis, Skin rash, Cough, Eosinophilia, Hepatitis, In... ORPHA:139402
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Chronic sinusitis, Respiratory insufficiency, Cough, Chronic br... OMIM:616037
Infant Acute Respiratory Distress Syndrome
Tachypnea, Atelectasis, Sepsis, Hypoxemia, Respiratory tract infection, Pulmonary edema, Pneumoni... ORPHA:70587
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Jaundice, Reticulocytosis, Normocytic anemia, Cholecystitis, Normochromic anemia, Nonspherocytic ... OMIM:235700
Roifman Syndrome
Hepatosplenomegaly, Decreased circulating antibody level, Eosinophilia, Recurrent otitis media, R... ORPHA:353298
Beta-Thalassemia
Anemia, Respiratory insufficiency, Abnormal hemoglobin, Hepatomegaly, Microcytic anemia, Hepatiti... ORPHA:848
Hereditary Folate Malabsorption
Recurrent urinary tract infections, Recurrent respiratory infections, Megaloblastic anemia, Cheil... ORPHA:90045
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Chronic bronchitis, Decreased circulating IgA level, Reduced natural killer cell count, Increased... OMIM:242860
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Respiratory insufficiency, Hepatomegaly, Thrombocytopenia, Pancytopenia, Sple... OMIM:610333
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Pancreatitis, Hepatomegaly, Respiratory distress, Thrombocytopenia, Splenomegaly, Neutrop... ORPHA:79312
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Aspiration pneumonia, Cough, Respiratory failure, Respiratory failure requiring assisted... ORPHA:90117
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Chronic otitis media, Chronic sinusitis, Recurrent sinopulmonary i... ORPHA:244
Sea-Blue Histiocytosis
Blepharitis, Hepatomegaly, Sea-blue histiocytosis, Thrombocytopenia, Mediastinal lymphadenopathy,... ORPHA:158029
Roifman Syndrome
Hepatomegaly, Eosinophilia, Recurrent otitis media, Recurrent pneumonia, Lymphadenopathy, Eczema,... OMIM:616651
Erythrocytosis, Familial, 1
Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Splenomegaly, Exertion... OMIM:133100
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chronic myelomono... ORPHA:98849
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatosplenomegaly, Hepatocellular carcinoma, Hemophagocytosis, Anemia, Acute lymphoblastic leuke... ORPHA:158057
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Dyspnea, Tachypnea, Atelectasis, Decreased DLCO, Inter... ORPHA:79126
Immunodeficiency 31C
Recurrent respiratory infections, Impaired lymphocyte transformation with phytohemagglutinin, Dis... OMIM:614162
Esophagitis, Eosinophilic, 1
Esophagitis, Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Esophagitis, Eosinophilia OMIM:613412
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Chronic sinusitis, Bronchiolitis, Bronchiectasis, Emphysema, Recurrent bron... OMIM:604571
Cystic Echinococcosis
Abnormality of the peritoneum, Jaundice, Cholestatic liver disease, Increased circulating antibod... ORPHA:400
Overhydrated Hereditary Stomatocytosis
Anisocytosis, Reticulocytosis, Intermittent jaundice, Hemolytic anemia, Abnormal mean corpuscular... ORPHA:3203
Erythrocytosis, Familial, 8
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly OMIM:222800
Peeling Skin Syndrome 1
Increased circulating IgE level, Asthma, Erythroderma, Eosinophilia OMIM:270300
Ciliary Dyskinesia, Primary, 13
Recurrent otitis media, Bronchiectasis, Immotile cilia, Recurrent bronchitis, Ciliary dyskinesia,... OMIM:613193
Sickle Cell Disease
Jaundice, Leukocytosis, Target cells, Hemolytic anemia, Splenic infarction, Hypoxemia, Hepatomega... OMIM:603903
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Chronic bronchitis, Respiratory insufficiency due to defective ... OMIM:614935
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatomegaly, Splenomegaly, Hepatic steatosis OMIM:614480
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Retinal Dystrophy And Microvillus Inclusion Disease
Bronchiectasis, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract i... OMIM:619446
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Splenomegaly, Anemia OMIM:617441
Hemochromatosis, Type 2B
Anemia, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Splenomegaly OMIM:613313
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Chronic pulmonary obstruction, Cough, Hepatomegaly, Respiratory ... ORPHA:2414
Adult Acute Respiratory Distress Syndrome
Dyspnea, Pancreatitis, Sepsis, Hypoxemia, Abnormal blood gas level, Pulmonary edema, Respiratory ... ORPHA:70578
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Hepatosplenomegaly, Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneumo... ORPHA:2590
Alpha-Mannosidosis, Adult Form
Hepatosplenomegaly, Recurrent gastroenteritis, Pancytopenia, Pneumonia, Recurrent infections ORPHA:309288
Farber Lipogranulomatosis
Respiratory insufficiency, Hepatomegaly, Arthritis, Lipogranulomatosis, Splenomegaly OMIM:228000
Classic Mycosis Fungoides
Skin rash, Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Eczema, Splenomegaly ORPHA:2584
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Hepatomegaly, Pericarditis, Splenomegaly ORPHA:163596
Classic Hodgkin Lymphoma
Skin rash, Respiratory insufficiency, Cough, Bone marrow hypocellularity, Hepatomegaly, Lymphaden... ORPHA:391
Cryohydrocytosis
Stomatocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:185020
Severe Acute Respiratory Syndrome
Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Chronic lung disea... ORPHA:140896
Overhydrated Hereditary Stomatocytosis
Jaundice, Reticulocytosis, Hemolytic anemia, Pulmonary embolism, Hepatomegaly, Prolonged neonatal... OMIM:185000
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Anemia, Pancytopenia, Splenomegaly, Panniculitis OMIM:618398
Hermansky-Pudlak Syndrome 2
Hepatosplenomegaly, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Recurrent abscess fo... OMIM:608233
Mastocytosis
Respiratory insufficiency, Cough, Hepatomegaly, Chronic leukemia, Acute leukemia, Mastocytosis, A... ORPHA:98292
Systemic-Onset Juvenile Idiopathic Arthritis
Skin rash, Juvenile rheumatoid arthritis, Hepatomegaly, Lymphadenopathy, Anterior uveitis, Pleura... ORPHA:85414
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Hepatomegaly, Splenomegaly, Portal vein thrombosis OMIM:610293
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific anti-polysaccharid... OMIM:301000
Legionnaires Disease
Myocarditis, Jaundice, Endocarditis, Restrictive ventilatory defect, Cough, Respiratory insuffici... ORPHA:549
Hypocomplementemic Urticarial Vasculitis
Dyspnea, Meningitis, Skin rash, Restrictive ventilatory defect, Cough, Uveitis, Hepatomegaly, Rec... ORPHA:36412
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Pulmonary arterial hypertension, Dyspnea, Wheezing, Leukocytosis, Atelectasis, Cough, Cholestasis... OMIM:620233
Bloom Syndrome
Chronic pulmonary obstruction, Acute lymphoblastic leukemia, Recurrent herpes, Severe varicella z... ORPHA:125
Hereditary Pulmonary Alveolar Proteinosis
Tachypnea, Restrictive ventilatory defect, Cough, Hypoxemia, Crazy paving pattern, Respiratory di... ORPHA:264675
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Splenomegaly, Ascites OMIM:271500
Dehydrated Hereditary Stomatocytosis
Increased hemoglobin concentration, Reticulocytosis, Polycythemia, Hemolytic anemia, Increased me... ORPHA:3202
Pyruvate Kinase Deficiency Of Red Cells
Reduced red cell pyruvate kinase level, Jaundice, Reticulocytosis, Hepatomegaly, Decreased hemogl... OMIM:266200
Polycythemia Vera
Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit... OMIM:263300
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Cholestasis-Lymphedema Syndrome
Jaundice, Erysipelas, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis, Splenomegaly OMIM:214900
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Intermittent thrombocytopenia, Recurrent lower respiratory tract infections, Hepatomegaly, Perian... OMIM:612541
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Pneumonia, Respiratory failure requiring ... ORPHA:596
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Congenital laryngeal stridor, Bronchiectasis, Neonatal asphyxia ORPHA:2375
Lymphoid Interstitial Pneumonia
Enlarged kidney, Subpleural interstitial thickening, Pulmonary venous hypertension, Hypoxemia, Ke... ORPHA:79128
Amyloidosis, Familial Visceral
Cholestasis, Hepatomegaly, Splenomegaly, Skin rash OMIM:105200
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Decreased mean corpuscular volume, Hypochromia, Hepatomegaly, Elevated hepatic iron conce... OMIM:615234
Eosinophilic Gastroenteritis
Atopic dermatitis, Leukocytosis, Anemia, Eosinophilia, Allergic rhinitis, Asthma, Ascites ORPHA:2070
Hyper-Igd Syndrome
Hepatosplenomegaly, Increased circulating IgA level, Leukocytosis, Recurrent infections, Skin ras... OMIM:260920
Immunodeficiency 82 With Systemic Inflammation
Colitis, Decreased circulating total IgA, Gastritis, Decreased proportion of naive T cells, B lym... OMIM:619381
Joubert Syndrome 33
Splenomegaly, Apnea OMIM:617767
Riddle Syndrome
Bronchitis, Decreased circulating total IgM, Chronic sinusitis, Generalized lymphadenopathy, Recu... ORPHA:420741
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:617068
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Hypereosinophilia, Uveitis, Keratoconjunctivitis sicca, Autoimmu... OMIM:617388
Bronchogenic Cyst
Abnormality of the peritoneum, Dyspnea, Atelectasis, Cough, Abnormal pleura morphology, Bronchoge... ORPHA:2357
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Chronic otitis media, Chronic sinusitis, Productive cough, Decreas... OMIM:618063
Cinca Syndrome
Leukocytosis, Meningitis, Abnormal granulocyte morphology, Anemia, Abnormality of neutrophils, Uv... ORPHA:1451
Glut1 Deficiency Syndrome 2
Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612126
Spherocytosis, Type 4
Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly OMIM:612653
Brucellosis
Myocarditis, Leukocytosis, Granuloma, Hepatomegaly, Increased circulating IgM level, Sacroiliac a... ORPHA:1304
Nocardiosis
Peritonitis, Pleuritis, Productive cough, Severe infection, Respiratory failure, Pneumothorax, Cu... ORPHA:31204
Spherocytosis, Type 2
Jaundice, Reticulocytosis, Hemolytic anemia, Acanthocytosis, Spherocytosis, Splenomegaly OMIM:616649
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Dyspnea, Splenomegaly, Hemolytic anemia ORPHA:98375
Scrub Typhus
Myocarditis, Dyspnea, Meningitis, Skin rash, Restrictive ventilatory defect, Cough, Infectious en... ORPHA:83317
Niemann-Pick Disease, Type A
Recurrent respiratory infections, Bone-marrow foam cells, Hepatomegaly, Prolonged neonatal jaundi... OMIM:257200
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure OMIM:619057
Hepatoportal Sclerosis
Hepatocellular carcinoma, Abnormality of the hepatic vasculature, Jaundice, Recurrent infections,... ORPHA:64743
Mitochondrial Complex I Deficiency, Nuclear Type 33
Aspiration pneumonia, Respiratory insufficiency, Simplified gyral pattern, Apnea, Bronchiectasis,... OMIM:618253
Ciliary Dyskinesia, Primary, 16
Chronic otitis media, Chronic sinusitis, Abnormal ciliary motility, Chronic rhinitis, Bronchiecta... OMIM:614017
Griscelli Syndrome Type 2
Jaundice, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia ORPHA:79477
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Hepatic fibrosis, Hepatomegaly, Portal fibrosis, Portal hypertension, Iron deficiency a... OMIM:616278
Hurler-Scheie Syndrome
Rhinitis, Abnormality of the tonsils, Hepatomegaly, Splenomegaly ORPHA:93476
Mixed Connective Tissue Disease
Myocarditis, Pulmonary arterial hypertension, Dyspnea, Pleuritis, Leukopenia, Hemolytic anemia, S... ORPHA:809
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia OMIM:615085
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Decreased nasal nitric oxide, Chronic cough, Bronchiectasis, Ci... OMIM:620197
Yellow Nail Syndrome
Recurrent respiratory infections, Pulmonary arterial hypertension, Dyspnea, Pleuritis, Cough, Bil... ORPHA:662
Gaucher Disease, Type I
Pulmonary arterial hypertension, Dyspnea, Anemia, Hepatomegaly, Thrombocytopenia, Hypersplenism, ... OMIM:230800
Griscelli Syndrome
Jaundice, Leukopenia, Abnormality of neutrophils, Bone marrow hypocellularity, Hepatomegaly, Hepa... ORPHA:381
Neonatal Lupus Erythematosus
Malar rash, Maculopapular exanthema, Aplastic anemia, Hemolytic anemia, Skin rash, Anemia, Choles... ORPHA:398124
Spherocytosis, Type 1
Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Cholelithiasis, Splenomegaly OMIM:182900
Fgfr2-Related Bent Bone Dysplasia
Hepatosplenomegaly, Extramedullary hematopoiesis ORPHA:313855
Congenital Bile Acid Synthesis Defect Type 1
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis,... ORPHA:79301
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Myositis, Eosinophilia OMIM:253600
Listeriosis
Myocarditis, Peritonitis, Hepatic granulomatosis, Respiratory failure, Splenic abscess, Liver abs... ORPHA:533
Familial Hemophagocytic Lymphohistiocytosis
Jaundice, Cholestatic liver disease, Maculopapular exanthema, Hemophagocytosis, Skin rash, Anemia... ORPHA:540
Panbronchiolitis, Diffuse
Wheezing, Cough, Hypoxemia, Bronchiectasis, Rhonchi, Crackles OMIM:604809
Macrophage Activation Syndrome
Hemophagocytosis, Anemia, Juvenile rheumatoid arthritis, Hepatomegaly, Hepatitis, Abnormal natura... ORPHA:158061
Anemia, Congenital Dyserythropoietic, Type Ia
Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Anemia of inadequate p... OMIM:224120
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Reduced sperm motility, Recurrent... OMIM:615434
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Stomatitis, Skin rash, Abscess, Hepatomegaly, Pulmonary fibrosis, Respiratory distress, Osteomyel... OMIM:612852
Primary Sclerosing Cholangitis
Cholestasis, Hepatomegaly, Histiocytosis, Abnormal biliary tract morphology, Cholelithiasis, Hepa... ORPHA:171
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Jaundice, Reticulocytosis, Increased mean corpuscular hemoglobin conc... OMIM:194380
Typhoid
Skin rash, Cough, Hepatomegaly, Infectious encephalitis, Abnormal pulmonary interstitial morpholo... ORPHA:99745
Majeed Syndrome
Inflammatory abnormality of the skin, Leukocytosis, Pustule, Cough, Hepatomegaly, Acne, Hypochrom... ORPHA:77297
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly, Exertional dyspnea ORPHA:90037
Congenital Disorder Of Glycosylation, Type Iij
Recurrent respiratory infections, Recurrent infection of the gastrointestinal tract, Hepatomegaly... OMIM:613489
Elliptocytosis 1
Jaundice, Elliptocytosis, Splenomegaly, Hemolytic anemia OMIM:611804
Coccidioidomycosis
Peritonitis, Coccidioidal meningitis, Granuloma, Increased circulating IgM level, Abnormality of ... ORPHA:228123
Muckle-Wells Syndrome
Skin rash, Restrictive ventilatory defect, Recurrent aphthous stomatitis, Uveitis, Anemia, Hepato... ORPHA:575
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Hemolytic anemia, Anemia, Reduced hematocrit, ... OMIM:613673
Gaucher Disease, Type Ii
Anemia, Cough, Hepatomegaly, Apnea, Bronchiolitis, Thrombocytopenia, Stridor, Recurrent aspiratio... OMIM:230900
Autosomal Dominant Hyper-Ige Syndrome
Chronic otitis media, Recurrent respiratory infections, Atelectasis, Skin rash, Cough, Increased ... ORPHA:2314
Sézary Syndrome
Abnormal immunoglobulin level, Abnormal pleura morphology, Abnormal lymphocyte morphology, Hepato... ORPHA:3162
Autoimmune Lymphoproliferative Syndrome
Decreased specific anti-polysaccharide antibody level, Colitis, Hepatomegaly, Gastritis, Decrease... ORPHA:3261
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatic fibrosis, Splenomegaly OMIM:619658
Mucoepithelial Dysplasia, Hereditary
Keratoconjunctivitis, Fibrocystic lung disease, Eosinophilia, Recurrent pneumonia, Rhinorrhea, Pn... OMIM:158310
Harderoporphyria
Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly OMIM:618892
Ciliary Dyskinesia, Primary, 2
Recurrent respiratory infections, Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia... OMIM:606763
Surfactant Metabolism Dysfunction, Pulmonary, 3
Desquamative interstitial pneumonitis, Hypoxemia, Usual interstitial pneumonia, Respiratory failu... OMIM:610921
Microsporidiosis
Myocarditis, Peritonitis, Bronchiolitis, Abnormality of the spleen, Decreased proportion of CD4-p... ORPHA:2552
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Myositis, Splenomegaly, Panniculitis OMIM:619183
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Splenomegaly, Anemia OMIM:618107
American Trypanosomiasis
Myocarditis, Dyspnea, Skin rash, Cough, Hepatomegaly, Infectious encephalitis, Lymphadenopathy, S... ORPHA:3386
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Pulmonary arterial hypertension, Abnormal pulmonary interstitial m... ORPHA:217563
Hereditary Orotic Aciduria
Recurrent respiratory infections, Splenomegaly, Impaired T cell function, Anemia ORPHA:30
Postinfectious Vasculitis
Persistent human papillomavirus infection, Inflammatory abnormality of the skin, Bacterial endoca... ORPHA:48435
Hermansky-Pudlak Syndrome 10
Recurrent respiratory infections, Hepatomegaly, Apnea, Abnormal pulmonary interstitial morphology... OMIM:617050
Wolman Disease
Bone-marrow foam cells, Anemia, Hepatomegaly, Splenomegaly, Ascites ORPHA:75233
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:611490
Sepsis In Premature Infants
Jaundice, Dyspnea, Abnormal respiratory system physiology, Leukocytosis, Disseminated viral infec... ORPHA:90051
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Recurrent herpes, B lymphocytopenia, Recurrent infections, ... ORPHA:391487
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Restrictive ventilatory defect, Autoimmune thrombocytopenia, Ju... OMIM:607944
Timothy Syndrome
Bronchitis, Pulmonary arterial hypertension, Pneumonia, Cardiomegaly, Recurrent infections OMIM:601005
Poikiloderma With Neutropenia
Leukopenia, Skin rash, Blepharitis, Neutropenia, Recurrent otitis media, Recurrent pneumonia, Con... OMIM:604173
Mucopolysaccharidosis-Plus Syndrome
Recurrent respiratory infections, Leukopenia, Enlarged kidney, Anemia, Sepsis, Bone marrow hypoce... OMIM:617303
Cholestasis, Progressive Familial Intrahepatic, 1
Jaundice, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Cirrhosis, Splenomegaly,... OMIM:211600
Congenital Tracheomalacia
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