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Gene: Git2 MGI:1347053

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

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

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.

No results meet the p-value threshold

Select physiological systems to view:

Viewing: all phenotypes

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Viewing: all phenotypes

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

Git2^Gt(XG510)Byg
HOM, Female, WTSI

Git2^Gt(XG510)Byg
body, WT, Female, WTSI

Git2^Gt(XG510)Byg
head, WT, Male, WTSI

View all 72 images

Git2^Gt(XG510)Byg
back skin, HOM, Female, WTSI

Git2^Gt(XG510)Byg
back skin, WT, Female, WTSI

Git2^Gt(XG510)Byg
eye, cataracts, HOM, Female, WTSI

Git2^Gt(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.

Human diseases associated with Git2 (0 diseases)
Human diseases predicted to be associated with Git2 (673 diseases)

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	Matching phenotypes	Source
Specific Granule Deficiency 1	Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne...	OMIM:245480
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired ne...	OMIM:618986
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Hep...	OMIM:615285
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre...	OMIM:619374
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci	OMIM:233670
Immunodeficiency 51	Pneumonia, Folliculitis, Cutaneous abscess, Eczematoid dermatitis, Chronic mucocutaneous candidia...	OMIM:613953
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, BCGitis, Increased circulating IgM level	OMIM:619549
Immunodeficiency 108 With Autoinflammation	Recurrent aphthous stomatitis, Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuc...	OMIM:260570
Immunodeficiency 32B	Pneumonia, Recurrent infections, BCGitis, Impaired oxidative burst, Abnormal circulating IgG leve...	OMIM:226990
Neutrophil Immunodeficiency Syndrome	Abnormality of neutrophil physiology, Leukocytosis	ORPHA:183707
Immunodeficiency 53	Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent urinary tract infect...	OMIM:617585
Immunodeficiency 104	Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Failure to thrive secondary ...	OMIM:608971
Immunodeficiency 48	Pneumonia, Pneumocystis carinii pneumonia, Eczematoid dermatitis, Recurrent candida infections, P...	OMIM:269840
Immunodeficiency, Common Variable, 1	Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired ...	OMIM:607594
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells...	OMIM:619126
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D...	OMIM:615513
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Persistent CMV viremia, Fluctuating splenomegaly, Increased circulating IgG level, Recurrent otit...	OMIM:619220
Leukocyte Adhesion Deficiency, Type Iii	Sepsis, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocy...	OMIM:612840
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Persistent CMV viremia, Recurrent viral infections, Decreased specific anti-polysaccharide antibo...	OMIM:300853
Combined Immunodeficiency, X-Linked	Pneumonia, Pneumocystis carinii pneumonia, Abnormal T cell count, Decreased circulating IgG level...	OMIM:312863
Congenital Disorder Of Glycosylation, Type Iic	Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media...	OMIM:266265
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgE, Reduc...	OMIM:300400
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphadenitis, Eczemat...	OMIM:618935
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Recurrent infections, Herpes simplex encephalitis, Recurrent otitis media, Molluscum contagiosum,...	OMIM:618982
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Disseminated mollu...	OMIM:617638
Immunodeficiency 62	Decreased proportion of memory B cells, Recurrent upper respiratory tract infections, Decreased c...	OMIM:618459
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato...	OMIM:233710
Immunodeficiency 52	Persistent CMV viremia, Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphop...	OMIM:617514
Caspase 8 Deficiency	Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Decre...	OMIM:607271
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent tonsillitis, Recurrent otitis media, Decreased circulating antibody level, S...	ORPHA:397596
Trimethylaminuria	Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia	OMIM:602079
Immunodeficiency 84	Splenomegaly, Perianal abscess, B lymphocytopenia, Recurrent bacterial infections, Persistent EBV...	OMIM:619437
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, Atopic dermatitis, Recurrent upper respirat...	OMIM:618806
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Recurrent infections, Recurrent pneumonia, Decreased circulating IgG level, Hepatitis,...	ORPHA:169160
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato...	OMIM:233690
Immunodeficiency 103, Susceptibility To Fungal Infections	Chronic tinea infection, Increased circulating IgE level, Hypereosinophilia, Abnormal B cell coun...	OMIM:212050
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis, Decreased circulating total IgM, Hepatomegaly, Recurrent infections	OMIM:606445
Immunodeficiency 88	BCGosis, Eosinophilia	OMIM:619630
Eosinophilia, Familial	Leukocytosis, Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Anemia	OMIM:131400
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod...	OMIM:247800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Otitis ...	OMIM:601457
Immunodeficiency With Hyper-Igm, Type 4	Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Osteomyeliti...	OMIM:608184
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co...	OMIM:620282
Immunodeficiency 116	Recurrent viral infections, Absence of CD8-positive T cells, Recurrent bacterial infections, Recu...	OMIM:608957
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func...	OMIM:240500
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Respir...	ORPHA:444463
Ras-Associated Autoimmune Leukoproliferative Disorder	Recurrent infections, Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating a...	OMIM:614470
Granulomatous Disease, Chronic, X-Linked	Recurrent Klebsiella infections, Lymphadenitis, Hepatomegaly, Discoid lupus rash, Granuloma, Ecze...	OMIM:306400
Glycoprotein Storage Disease	Gout, Splenomegaly	OMIM:232900
Isolated Agammaglobulinemia	Pneumonia, Sepsis, Recurrent respiratory infections, Abnormal lymphocyte morphology, Otitis media...	ORPHA:229717
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess...	OMIM:150550
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Recurrent bacterial infecti...	OMIM:202700
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Chronic otitis media, Recurrent viral infections, Recurrent candida...	ORPHA:217390
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Recurrent respir...	OMIM:614699
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Cholecystitis, Splenomegaly, No...	OMIM:613470
Eosinophilopenia	Allergic rhinitis, Decreased eosinophil count	OMIM:131430
Immunodeficiency 102	Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent lower respiratory tr...	OMIM:301082
Immunodeficiency 69	Hemophagocytosis, BCGitis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Skin ras...	OMIM:618963
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Inflammation of the large intestine, Psoriasiform dermatitis, Hepatomegaly, Recurrent lower respi...	ORPHA:436159
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent viral infections, Lymphadenitis, Abnormal lymph node morphology, Decreased proportion o...	ORPHA:911
Immunodeficiency 76	Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, Lymphadenopathy, B lymph...	OMIM:619164
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology, Abnormal pleura morphology	ORPHA:724
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Recurrent upper respiratory tract infections, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly,...	OMIM:613101
Immunodeficiency 7	Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegal...	OMIM:615387
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,...	OMIM:613500
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Skin rash, Splenomegaly, Lymphadenopathy,...	ORPHA:98848
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Sepsis, Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in prese...	ORPHA:231154
Neonatal Alloimmune Neutropenia	Pneumonia, Sepsis, Jaundice, Severe infection, Neutropenia in presence of anti-neutropil antibodi...	ORPHA:464370
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Lymphoproliferative Syndrome, X-Linked, 2	Recurrent infections, Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemopha...	OMIM:300635
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Immunodeficiency 18	Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno...	OMIM:615615
Immunodeficiency 13	Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Lympho...	OMIM:615518
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,...	OMIM:613494
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Lymphoproliferative Syndrome 2	Recurrent pneumonia, Sepsis, Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Panc...	OMIM:615122
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnormal...	ORPHA:276
Immunodeficiency 110 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent viral infections, Ch...	OMIM:614868
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Persistent CMV viremia, Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4...	OMIM:618495
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:613502
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome...	ORPHA:2968
Immunodeficiency 42	Recurrent aphthous stomatitis, Splenomegaly, Hypoplasia of the thymus, Recurrent cutaneous fungal...	OMIM:616622
Omenn Syndrome	Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent bacterial infections, Hypoplasia o...	OMIM:603554
Shwachman-Diamond Syndrome	Recurrent viral infections, Aplastic anemia, Pancytopenia, Impaired neutrophil chemotaxis, Acute ...	ORPHA:811
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Recurrent respiratory infections, Pancytopenia, Abnormal macrophag...	ORPHA:2585
Immunodeficiency 27A	Pneumonia, Increased circulating IgG level, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Incre...	OMIM:209950
Whim Syndrome 1	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Recur...	OMIM:193670
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Decreased circulating antibody level, Autoimmune hemolyt...	OMIM:616576
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Pneumonia, Recurrent upper respiratory trac...	OMIM:602450
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Pneumonia, Recurrent mycobacterial infections, Recurrent Klebsiella infections, Lymphadenitis, Re...	ORPHA:319552
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Meningitis, Chronic otitis media, Eczematoid dermatitis, Opportunistic inf...	ORPHA:83471
Agammaglobulinemia 7, Autosomal Recessive	Recurrent infections, Reduced natural killer cell count, Panhypogammaglobulinemia, Abnormal T cel...	OMIM:615214
Juvenile Temporal Arteritis	Allergic rhinitis, Conjunctivitis, Eosinophilia, Leukocytosis	ORPHA:26137
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Decreased circulating IgG level, Recurrent upper respiratory tract infections, Pneumoc...	OMIM:614069
Allergic Bronchopulmonary Aspergillosis	Emphysema, Abnormal eosinophil morphology, Bronchiectasis	ORPHA:1164
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Recurrent respiratory infections, Splenomegaly	ORPHA:139406
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple...	ORPHA:169154
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Recurrent viral infections, Recurrent otitis media, Molluscum contagiosum, Inc...	OMIM:243700
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Decreased circulating IgG level, Bronchiectasis, Pancytop...	OMIM:618394
Microlissencephaly	Pneumonia, Polymicrogyria, Periventricular heterotopia, Pachygyria, Subcortical heterotopia, Liss...	ORPHA:1083
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Recurrent viral infect...	OMIM:242700
Immunodeficiency 25	Recurrent pneumonia, Recurrent candida infections, Increased circulating IgE level, Complete or n...	OMIM:610163
Autosomal Dominant Severe Congenital Neutropenia	Pneumonia, Recurrent viral infections, Aplastic anemia, Periodontitis, Lymphopenia, Recurrent aph...	ORPHA:486
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph...	OMIM:308240
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections...	OMIM:616100
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Abnormal pulmonary ...	OMIM:607616
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Partial absence of specific antibody respon...	OMIM:619824
Immunodeficiency 92	Pneumonia, Persistent CMV viremia, Decreased circulating IgG level, Partial absence of specific a...	OMIM:619652
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect...	OMIM:616005
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280794
Cyclic Neutropenia	Sepsis, Periodontitis, Opportunistic infection, Recurrent tonsillitis, Cervical lymphadenopathy, ...	ORPHA:2686
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:612692
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ...	OMIM:619802
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent infections, Atopic dermatitis, Recurrent pneumonia, Cutaneous abscess, Eczematoid derma...	OMIM:618282
Necrobiosis Lipoidica	Abnormality of neutrophil physiology, Inflammatory abnormality of the skin, Granuloma	ORPHA:542592
Osteopetrosis, Autosomal Recessive 2	Mandibular osteomyelitis, Extramedullary hematopoiesis, Osteomyelitis, Hepatosplenomegaly, Pancyt...	OMIM:259710
Felty Syndrome	Synovitis, Neutropenia, Recurrent pharyngitis, Hepatomegaly, Chronic otitis media, Abnormal lymph...	ORPHA:47612
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Recurrent viral infections, Increased circulating IgE level, Eosinophilic infi...	OMIM:620532
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre...	ORPHA:183675
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Recurrent viral infections, Lymphadenitis, Recurrent enteroviral infections, Lymphopenia, Hepatos...	ORPHA:331206
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Pneumocystis jirovecii pneumonia, Decreased circulating IgG level, H...	OMIM:301078
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce...	ORPHA:331235
Chediak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegal...	OMIM:214500
Tularemia	Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad...	ORPHA:3392
Combined Immunodeficiency Due To Crac Channel Dysfunction	Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Splenomegaly, ...	ORPHA:169090
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Immunodeficiency With Hyper-Igm, Type 1	Enteroviral encephalitis, Cirrhosis, Increased circulating IgA level, Neutropenia, Hepatomegaly, ...	OMIM:308230
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Skin rash, Hepatomegaly, Jaundice, Lymphadenopathy, Thrombocytope...	OMIM:603552
Proteasome-Associated Autoinflammatory Syndrome 5	Skin rash, Hepatomegaly, Splenomegaly	OMIM:619175
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Immunodeficiency 115 With Autoinflammation	Decreased circulating IgG level, Recurrent viral infections, Eczematoid dermatitis, Intestinal ly...	OMIM:620632
Immunodeficiency 57 With Autoinflammation	Inflammation of the large intestine, Reduced natural killer cell count, Partial absence of specif...	OMIM:618108
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia, Arthritis, Abnormal pleura morphology	ORPHA:2582
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Recurrent viral infections, Increased circulating IgE level...	OMIM:102700
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pne...	OMIM:619281
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
Purine Nucleoside Phosphorylase Deficiency	Pneumonia, Recurrent upper respiratory tract infections, Recurrent viral infections, Impaired T c...	OMIM:613179
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Abnormal T cell count, Recurrent enteroviral infections, Enteroviral dermatomyositis s...	OMIM:307200
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Recurrent enteroviral infections, Panhypogammaglobulinemia, Recurrent otitis...	OMIM:601495
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Beta-Thalassemia Intermedia	Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Er...	ORPHA:231222
Complement Factor B Deficiency	Pneumonia, Recurrent meningococcal disease, Peritonitis, Recurrent bacterial infections, Meningitis	OMIM:615561
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly, Hepatomegal...	OMIM:620296
Agammaglobulinemia, X-Linked	Enteroviral dermatomyositis syndrome, Recurrent otitis media, Lymph node hypoplasia, Prostatitis,...	OMIM:300755
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Keratitis, Eczematoid dermatitis, Recurrent otitis media, Increased circulating IgE level, Eosino...	OMIM:618523
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Immunodeficiency 56	Recurrent infections, Recurrent pneumonia, Pneumocystis jirovecii pneumonia, Panhypogammaglobulin...	OMIM:615207
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer ...	OMIM:600802
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Recurrent viral infections, Hepatosplenomegaly, Hepatic cysts, Colonic eosinop...	OMIM:618999
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion...	OMIM:613011
Melioidosis	Pneumonia, Unusual skin infection, Brain abscess, Cutaneous abscess, Foot osteomyelitis, Hepatiti...	ORPHA:31202
Immunodeficiency 10	Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,...	OMIM:612783
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic ane...	OMIM:601859
Felty Syndrome	Rheumatoid arthritis, Splenomegaly, Neutropenia	OMIM:134750
Kimura Disease	Increased circulating IgE level, Eosinophilia, Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Fasciitis, Myositis, Eosinophilia, Arthritis	ORPHA:3165
Dominant Beta-Thalassemia	Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F...	ORPHA:231226
Slc35A1-Cdg	Pneumonia, Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Thrombocytopenia, N...	ORPHA:238459
C1Q Deficiency 2	Discoid lupus rash, Pneumocystis carinii pneumonia, Sepsis, Atelectasis, Recurrent otitis media, ...	OMIM:620321
Young Syndrome	Bronchiectasis, Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Rec...	OMIM:279000
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Recurrent upper respiratory tract infections, Eczematoid dermatitis, Exocrine pancreatic insuffic...	OMIM:615952
Ciliary Dyskinesia, Primary, 41	Recurrent otitis media, Immotile sperm, Bronchiectasis, Recurrent sinusitis	OMIM:618449
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Intraalveolar phospholipid accumulation, Leukocytosis, Splenomegaly, Recurrent respiratory infect...	OMIM:618042
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Omenn Syndrome	Pneumonia, Sepsis, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosi...	ORPHA:39041
Ciliary Dyskinesia, Primary, 46	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Reduced sperm motility, Bronchi...	OMIM:619436
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Increased mean corpuscular volume, Extramedullary hematopoiesis, Ascites, Sideroblastic anemia, E...	OMIM:617021
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Inters...	OMIM:616433
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Chédiak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Recurre...	ORPHA:167
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	ORPHA:517
Scedosporiosis	Pneumonia, Unusual CNS infection, Unusual skin infection, Sepsis, Bronchitis, Invasive fungal inf...	ORPHA:449280
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decrease...	OMIM:614878
Alpha-1-Antitrypsin Deficiency	Splenomegaly, Chronic bronchitis, Cirrhosis, Panacinar emphysema, Bronchiectasis, Hepatocellular ...	OMIM:613490
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,...	OMIM:616726
Congenital Syphilis	Pneumonia, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Synovitis, Prolonged neon...	ORPHA:499009
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Histiocytosis, Maculopapular exanthema	ORPHA:157991
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Recurrent viral infections, Recurrent enteroviral infecti...	ORPHA:79124
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Reduced natural killer cell count, Recurrent upper respiratory tract infection...	OMIM:619752
Beta-Thalassemia Major	Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F...	ORPHA:231214
Sandhoff Disease	Hepatomegaly, Recurrent respiratory infections, Splenomegaly	ORPHA:796
Aspergillosis	Pneumonia, Unusual CNS infection, Keratitis, Hepatitis, Increased circulating IgE level, Osteomye...	ORPHA:1163
Ciliary Dyskinesia, Primary, 25	Recurrent pneumonia, Polysplenia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis...	OMIM:615482
Autosomal Agammaglobulinemia	Recurrent infections, Bronchiectasis, Sepsis, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulin...	ORPHA:33110
Ciliary Dyskinesia, Primary, 9	Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro...	OMIM:612444
Immunodeficiency 89 And Autoimmunity	Increased circulating IgG level, Increased circulating IgE level, Crohn's disease, Increased circ...	OMIM:619632
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Lymphadenopathy, Arthritis, Anemia, Me...	OMIM:607115
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphade...	ORPHA:100024
Mounier-Kühn Syndrome	Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections	ORPHA:3347
Autoimmune Lymphoproliferative Syndrome, Type Iia	Follicular hyperplasia, Increased circulating IgA level, Hepatomegaly, Autoimmune thrombocytopeni...	OMIM:603909
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Spl...	OMIM:620210
Aggressive Systemic Mastocytosis	Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of C...	ORPHA:98850
Whim Syndrome	Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Seps...	ORPHA:51636
Fusariosis	Abnormality of the spleen, Lymphopenia, Neutropenia, Unusual CNS infection, Granuloma, Osteomyeli...	ORPHA:228119
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Pachygyria, Polymicrogyria, Aspiration pneumonia	OMIM:609528
Immunodeficiency 77	Recurrent tonsillitis, Bronchiectasis, Cutaneous abscess, Nontuberculous mycobacterial pulmonary ...	OMIM:619223
Common Variable Immunodeficiency	Pneumonia, Bronchiectasis, Emphysema, Lymphopenia, Abnormality of the liver, Decreased circulatin...	ORPHA:1572
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Hepatomegaly, Dysgammaglobulinemia, Lymphadenopathy, Anemia	ORPHA:100025
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Ciliary Dyskinesia, Primary, 21	Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis	OMIM:615294
Pgm3-Cdg	Allergic rhinitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Increased circulating IgE ...	ORPHA:443811
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re...	OMIM:615139
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Extramedullary hematopoiesis, Cholestasis, Hepatic steatosis, Prolonged neo...	ORPHA:79303
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating antibody level, Tra...	ORPHA:3132
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce...	OMIM:187950
Good Syndrome	Thymoma, Aplasia/Hypoplasia of the thymus, Recurrent urinary tract infections, Decreased circulat...	ORPHA:169105
Chronic Granulomatous Disease	Sepsis, Eczematoid dermatitis, Recurrent respiratory infections, Splenomegaly, Otitis media, Hepa...	ORPHA:379
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Pfapa Syndrome	Splenomegaly, Infectious encephalitis, Lymphadenopathy, Arthritis, Recurrent pharyngitis, Hepatom...	ORPHA:42642
Pneumocystosis	Pneumocystis jirovecii pneumonia, Interstitial pneumonitis, Pleural effusion, Increased circulati...	ORPHA:723
Follicular Lymphoma	Pleural effusion, Splenomegaly, Lymphadenopathy, Abnormal peritoneum morphology, Meningitis, Medi...	ORPHA:545
Staphylococcal Necrotizing Pneumonia	Pneumonia, Sepsis, Leukopenia, Leukocytosis, Pleural effusion, Pneumothorax, Severe infection, Ac...	ORPHA:36238
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Bronchiectasis, Atelectasis, Recurrent respiratory infections, Chronic otitis media, Lissencephaly	OMIM:619466
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Recurrent infections, Bronchiectasis, Decreased proportion of CD4-positive T cells	ORPHA:477814
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decreased FOXP3-expressing T c...	OMIM:304790
Immunodeficiency 43	Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r...	OMIM:241600
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Decreased circulating antibody level, Bronchiectasis, Atelectasis	OMIM:615872
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Minimal change glomerulonephritis, Recurrent viral infections, Intraalveolar phosph...	OMIM:620565
Ciliary Dyskinesia, Primary, 14	Recurrent pneumonia, Polysplenia, Otitis media, Chronic bronchitis, Chronic sinusitis, Immotile s...	OMIM:613807
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Sarcoidosis, Susceptibility To, 2	Mediastinal lymphadenopathy, Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, Erythema no...	OMIM:612387
Ciliary Dyskinesia, Primary, 23	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi...	OMIM:615451
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,...	OMIM:619705
Idiopathic Bronchiectasis	Emphysema, Respiratory tract infection, Recurrent Haemophilus influenzae infections, Acute infect...	ORPHA:60033
Schnitzler Syndrome	Leukocytosis, Skin rash, Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia, Increase...	ORPHA:37748
Immunodeficiency 12	Recurrent viral infections, Recurrent aphthous stomatitis, Complete or near-complete absence of s...	OMIM:615468
Immunodeficiency 23	Allergic rhinitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Molluscum contagiosu...	OMIM:615816
Ciliary Dyskinesia, Primary, 27	Recurrent respiratory infections, Recurrent otitis media, Chronic sinusitis, Recurrent sinusitis,...	OMIM:615504
Gaucher Disease Type 2	Hepatomegaly, Recurrent respiratory infections, Splenomegaly	ORPHA:77260
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Cirrhosis, H...	OMIM:616860
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h...	OMIM:235700
Mastocytosis, Cutaneous	Cutaneous mastocytosis	OMIM:154800
Aicardi-Goutieres Syndrome 6	Chilblains, Splenomegaly, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	OMIM:615010
Babesiosis	Leukopenia, Splenomegaly, Thrombocytopenia, Recurrent pharyngitis, Hepatomegaly, Jaundice, Recurr...	ORPHA:108
Ciliary Dyskinesia, Primary, 39	Recurrent otitis media, Recurrent lower respiratory tract infections, Bronchiectasis	OMIM:618254
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Diffuse alveolar hemorrhage, Reduced natural killer cell activ...	OMIM:616050
Ciliary Dyskinesia, Primary, 42	Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis	OMIM:618695
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, ...	ORPHA:100026
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Leukocytosis, Skin rash, Splenomegaly, Lymphadenopathy, Arthritis,...	OMIM:611762
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Immunodeficiency 114, Folate-Responsive	Atopic dermatitis, Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia,...	OMIM:620603
Tracheobronchomegaly	Recurrent bronchopulmonary infections, Bronchiectasis	OMIM:275300
Hemophagocytic Syndrome Associated With An Infection	Histoplasmosis, Hemophagocytosis, Invasive fungal infection, Severe viral infection, Invasive par...	ORPHA:158048
Immunodeficiency 54	Reduced natural killer cell count, Recurrent viral infections, Splenomegaly, Lymphadenopathy, Hep...	OMIM:609981
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Bronchiectasis With Or Without Elevated Sweat Chloride 2	Abnormality of exocrine pancreas physiology, Bronchiectasis, Recurrent bronchiolitis, Chronic bro...	OMIM:613021
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C...	ORPHA:37042
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Abnormality of neuronal migration, Splenomegaly, Aplasia/Hypoplasia of the lungs	ORPHA:2204
Idiopathic Achalasia	Recurrent aspiration pneumonia, Bronchitis	ORPHA:930
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Leishmaniasis	Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Increased circulating ant...	ORPHA:507
Osteopetrosis, Autosomal Recessive 3	Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis	OMIM:259730
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Ascites, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomega...	OMIM:259720
Netherton Syndrome	Allergic rhinitis, Decreased circulating IgG level, Sepsis, Eczematoid dermatitis, Increased circ...	OMIM:256500
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis, Erythroderma	ORPHA:280785
Hereditary Folate Malabsorption	Recurrent urinary tract infections, Pancytopenia, Decreased circulating antibody level, Eosinophi...	ORPHA:90045
Tyrosinemia Type 1	Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Spondylometaphyseal Dysplasia, Axial	Recurrent pneumonia, Splenomegaly, Reduced sperm motility	OMIM:602271
Ciliary Dyskinesia, Primary, 3	Recurrent otitis media, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis	OMIM:608644
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Splenomegaly, Skin rash, Increased circulating antibody level, Myositis, Sinusitis, ...	OMIM:617591
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis	OMIM:620032
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:610539
Bacterial Toxic-Shock Syndrome	Abscess, Glomerulonephritis, Meningitis, Recurrent skin infections, Osteomyelitis, Myositis, Peri...	ORPHA:36234
Muscular Hypertonia, Lethal	Pneumonia	OMIM:254120
Bronchiectasis With Or Without Elevated Sweat Chloride 3	Bronchiectasis, Chronic bronchitis	OMIM:613071
Ciliary Dyskinesia, Primary, 11	Recurrent sinusitis, Chronic bronchitis, Chronic rhinitis, Reduced sperm motility, Recurrent resp...	OMIM:612649
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Absent natural ...	ORPHA:35078
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy...	ORPHA:158029
Graft Versus Host Disease	Pneumonia, Inflammatory abnormality of the skin, Hemophagocytosis, Fasciitis, Acute hepatitis, He...	ORPHA:39812
Ciliary Dyskinesia, Primary, 36, X-Linked	Recurrent respiratory infections, Bronchiectasis, Chronic otitis media, Recurrent sinusitis	OMIM:300991
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt...	OMIM:619463
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Q Fever	Hepatosplenomegaly, Increased circulating antibody level, Hepatomegaly, Meningitis, Endocarditis,...	ORPHA:781
Esophagitis, Eosinophilic, 1	Eosinophilia, Esophagitis	OMIM:610247
Esophagitis, Eosinophilic, 2	Eosinophilia, Esophagitis	OMIM:613412
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Reduced natural killer cell count, Decreased circulating IgA level, Chronic bronchitis...	OMIM:242860
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Allergic rhinitis, Exocrine pancreatic insufficiency, Skin rash, Splenomegaly, Anemia of inadequa...	OMIM:612714
Ciliary Dyskinesia, Primary, 44	Bronchiectasis, Otitis media, Recurrent sinusitis	OMIM:618781
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega...	ORPHA:158057
Immunodeficiency 58	Allergic rhinitis, Molluscum contagiosum, Esophagitis, Recurrent cutaneous abscess formation, Chr...	OMIM:618131
Prolidase Deficiency	Recurrent pneumonia, Eczematoid dermatitis, Splenomegaly, Increased circulating antibody level, C...	OMIM:170100
Immunodeficiency 65, Susceptibility To Viral Infections	Recurrent viral infections, Stomatitis, Bronchiectasis, Recurrent gastroenteritis	OMIM:618648
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine, Microcytic a...	ORPHA:906
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly	OMIM:614480
Roifman Syndrome	Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Splenomegaly, Eosinophilia, L...	OMIM:616651
Roifman Syndrome	Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Hepatosplenomegaly, Eosinophi...	ORPHA:353298
Atelis Syndrome 1	Eczematoid dermatitis, Leukopenia, Glue ear, Thrombocytopenia, Anemia, Recurrent infections, Bron...	OMIM:620184
Ciliary Dyskinesia, Primary, 28	Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ...	OMIM:615505
Ciliary Dyskinesia, Primary, 1	Pneumonia, Bronchiectasis, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis...	OMIM:244400
Ciliary Dyskinesia, Primary, 26	Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Reduced sperm motility...	OMIM:615500
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Hemochromatosis, Type 2B	Hepatic fibrosis, Splenomegaly, Hepatomegaly, Cirrhosis, Anemia	OMIM:613313
Ciliary Dyskinesia, Primary, 12	Chronic otitis media, Chronic sinusitis, Chronic rhinitis, Immotile sperm, Reduced sperm motility...	OMIM:612650
Bronchiolitis Obliterans	Pneumonia, Bronchiolitis obliterans, Bronchiectasis, Respiratory tract infection	ORPHA:1303
Isolated Congenital Hypoglossia/Aglossia	Aspiration pneumonia	ORPHA:141152
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Ascites, Splenomegaly, Aplasia/Hypoplasia of the lungs	ORPHA:1046
Ciliary Dyskinesia, Primary, 51	Recurrent sinusitis, Chronic rhinitis, Reduced progressive sperm motility, Reduced sperm motility...	OMIM:620438
Ciliary Dyskinesia, Primary, 5	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi...	OMIM:608647
Classic Mycosis Fungoides	Eczematoid dermatitis, Abnormal lymphocyte morphology, Skin rash, Splenomegaly, Lymphadenopathy, ...	ORPHA:2584
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Alpha-Mannosidosis, Adult Form	Pneumonia, Hepatosplenomegaly, Pancytopenia, Recurrent gastroenteritis, Recurrent infections	ORPHA:309288
Anemia, Hypochromic Microcytic, With Iron Overload 2	Sideroblastic anemia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, Elevated h...	OMIM:615234
Chronic Beryllium Disease	Mediastinal lymphadenopathy, Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial ...	ORPHA:133
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Abnormally low T cell receptor excision circle level, Eosinophilia, Recurrent infections	OMIM:618092
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Pulmonary cyst, Unusual infection, Invasive parasi...	ORPHA:400
Immunodeficiency 31C	Recurrent infections, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Lymphopenia, Oste...	OMIM:614162
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia, Pericarditis	ORPHA:163596
Adult-Onset Still Disease	Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Skin rash, Interstitial pneum...	ORPHA:829
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system	OMIM:271500
Cholestasis-Lymphedema Syndrome	Erysipelas, Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice	OMIM:214900
Ciliary Dyskinesia, Primary, 34	Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis, Immotile sperm, Bronchiectasis	OMIM:617091
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Pancytopenia, Splenomegaly, Anemia, Panniculitis	OMIM:618398
Ciliary Dyskinesia, Primary, 35	Recurrent pneumonia, Abdominal situs ambiguus, Chronic sinusitis, Chronic rhinitis, Chronic otiti...	OMIM:617092
Drug Reaction With Eosinophilia And Systemic Symptoms	Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Eosinophilia, L...	ORPHA:139402
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S...	OMIM:266200
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Recurrent pneumonia, Periodontitis, Enlarged platelet dense gr...	OMIM:608233
Pulmonary Alveolar Proteinosis, Acquired	Pneumonia, Brain abscess, Intraalveolar phospholipid accumulation, Lung abscess, Recurrent respir...	OMIM:610910
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	ORPHA:79312
Focal Facial Dermal Dysplasia Type Iv	Abnormal mast cell morphology	ORPHA:398189
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Retinal Dystrophy And Microvillus Inclusion Disease	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc...	OMIM:619446
Wiskott-Aldrich Syndrome	Inflammation of the large intestine, Decreased proportion of CD8-positive T cells, Lymphopenia, R...	OMIM:301000
Ciliary Dyskinesia, Primary, 43	Recurrent upper respiratory tract infections, Abdominal situs inversus, Chronic sinusitis, Chroni...	OMIM:618699
Mhc Class I Deficiency 1	Bronchiolitis, Bronchiectasis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otitis...	OMIM:604571
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice	ORPHA:79477
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Th...	ORPHA:848
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Ciliary Dyskinesia, Primary, 15	Recurrent pneumonia, Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Immotile sper...	OMIM:613808
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Ciliary Dyskinesia, Primary, 45	Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis	OMIM:618801
Hyper-Igd Syndrome	Lymphadenitis, Molluscum contagiosum, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Skin rash, ...	OMIM:260920
Cinca Syndrome	Leukocytosis, Splenomegaly, Inflammatory abnormality of the eye, Hepatomegaly, Lymphadenopathy, A...	ORPHA:1451
Ciliary Dyskinesia, Primary, 17	Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br...	OMIM:614679
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Punctate keratitis, Keratoconjuncti...	OMIM:617388
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Systemic-Onset Juvenile Idiopathic Arthritis	Pleural effusion, Skin rash, Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis, Juvenile rhe...	ORPHA:85414
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul...	ORPHA:64743
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, ...	OMIM:257200
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep...	OMIM:616278
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Pustular rash, Recurrent otitis media, Follicular hyperplasia, R...	OMIM:619381
Avian Influenza	Pneumonia, Myelitis, Sepsis, Hepatitis, Lymphopenia, Leukopenia, Pleural effusion, Infectious enc...	ORPHA:454836
Amyloidosis, Hereditary Systemic 2	Skin rash, Hepatomegaly, Cholestasis, Splenomegaly	OMIM:105200
Fgfr2-Related Bent Bone Dysplasia	Hepatosplenomegaly, Extramedullary hematopoiesis	ORPHA:313855
Bloom Syndrome	Severe toxoplasmosis, Abscess, Abnormal proportion of CD8-positive T cells, Acute myeloid leukemi...	ORPHA:125
Ciliary Dyskinesia, Primary, 24	Recurrent otitis media, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis	OMIM:615481
Congenital Bile Acid Synthesis Defect Type 1	Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Cirrhosis, Hepatomeg...	ORPHA:79301
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Hepatome...	ORPHA:1304
Rigid Spine Syndrome	Pneumonia	ORPHA:97244
Osteopetrosis, Autosomal Recessive 8	Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia	OMIM:615085
Primary Ciliary Dyskinesia	Recurrent mycobacterial infections, Abnormal sperm motility, Bronchiectasis, Polysplenia, Atelect...	ORPHA:244
Neonatal Lupus Erythematosus	Aplastic anemia, Pancytopenia, Malar rash, Abnormality of the liver, Splenomegaly, Skin rash, Hep...	ORPHA:398124
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Congenital Disorder Of Glycosylation, Type Iij	Recurrent infection of the gastrointestinal tract, Splenomegaly, Cirrhosis, Hepatomegaly, Recurre...	OMIM:613489
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Myositis, Eosinophilia	OMIM:253600
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm...	ORPHA:381
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hemophagocytosis, Reduced natural killer cell activity, Decreased circ...	ORPHA:540
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate...	OMIM:224120
Wells Syndrome	Eosinophilia	ORPHA:901
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Neutropenia, Hepatomegaly, Recurrent lower respiratory tract inf...	OMIM:612541
Ciliary Dyskinesia, Primary, 32	Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br...	OMIM:616481
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia, Erythroderma	OMIM:270300
Familial Nasal Acilia	Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Chronic rhinitis, B...	ORPHA:922
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc...	OMIM:194380
Sézary Syndrome	Abnormal lymphocyte morphology, Abnormal pleura morphology, Splenomegaly, Abnormal immunoglobulin...	ORPHA:3162
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Hurler-Scheie Syndrome	Hepatomegaly, Rhinitis, Abnormality of the tonsils, Splenomegaly	ORPHA:93476
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Legionnaires Disease	Bone marrow hypocellularity, Sepsis, Hepatitis, Lymphopenia, Abnormal pleura morphology, Splenome...	ORPHA:549
Tracheobronchopathia Osteochondroplastica	Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec...	ORPHA:3348
Macrophage Activation Syndrome	Hemophagocytosis, Hepatitis, Splenomegaly, Increased inflammatory response, Hepatomegaly, Lymphad...	ORPHA:158061
Eosinophilic Gastroenteritis	Allergic rhinitis, Atopic dermatitis, Ascites, Leukocytosis, Eosinophilia, Anemia	ORPHA:2070
Ciliary Dyskinesia, Primary, 13	Recurrent otitis media, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis	OMIM:613193
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice	OMIM:619658
Bronchiectasis With Or Without Elevated Sweat Chloride 1	Abnormality of exocrine pancreas physiology, Bronchiectasis, Chronic bronchitis	OMIM:211400
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Atelectasis, Increased circulating IgE level, Hypereosinophilia, Leukocytosis,...	ORPHA:2902
Harderoporphyria	Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia	OMIM:618892
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Usual interstitial pneumonia, Increased mean corpuscul...	OMIM:620367
Farber Lipogranulomatosis	Hepatomegaly, Splenomegaly, Arthritis, Lipogranulomatosis	OMIM:228000
Tafro Syndrome	Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Pleural effusion, Hepatomegaly, Lymphade...	ORPHA:457077
Ciliary Dyskinesia, Primary, 7	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis	OMIM:611884
Osteopetrosis, Autosomal Dominant 3	Anemia, Hepatomegaly, Splenomegaly	OMIM:618107
Mixed Connective Tissue Disease	Mediastinal lymphadenopathy, Leukopenia, Pleuritis, Splenomegaly, Skin rash, Myositis, Hepatomega...	ORPHA:809
Hereditary Orotic Aciduria	Anemia, Recurrent respiratory infections, Splenomegaly, Impaired T cell function	ORPHA:30
Hypocomplementemic Urticarial Vasculitis	Emphysema, Ascites, Episcleritis, Pleural effusion, Splenomegaly, Skin rash, Recurrent bacterial ...	ORPHA:36412
Riddle Syndrome	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Bron...	ORPHA:420741
Acute Generalized Exanthematous Pustulosis	Cholestasis, Predominantly dermal neutrophilic infiltrate, Leukocytosis, Pustule, Eosinophilic de...	ORPHA:293173
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Autoimmune hemolytic anemia, Myositis, Lymphadenopathy, Hepatomegaly, Panniculitis	OMIM:619183
Wolman Disease	Ascites, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells	ORPHA:75233
Ciliary Dyskinesia, Primary, 22	Recurrent respiratory infections, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis...	OMIM:615444
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P...	OMIM:185000
Ciliary Dyskinesia, Primary, 19	Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ...	OMIM:614935
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Microsporidiosis	Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke...	ORPHA:2552
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Skin rash, Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:391
Bronchogenic Cyst	Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Chronic in...	ORPHA:2357
Mitochondrial Complex I Deficiency, Nuclear Type 33	Simplified gyral pattern, Bronchiectasis, Neutropenia, Aspiration pneumonia	OMIM:618253
Infant Acute Respiratory Distress Syndrome	Pneumonia, Sepsis, Atelectasis, Respiratory tract infection, Pulmonary edema	ORPHA:70587
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent viral infections, Se...	ORPHA:293978
Pulmonary Non-Tuberculous Mycobacterial Infection	Mycobacterium abscessus abscessus infection, Disseminated nontuberculous mycobacterial infection,...	ORPHA:411703
Listeriosis	Arteritis, Abscess, Pustule, Meningitis, Jaundice, Endocarditis, Unusual CNS infection, Unusual s...	ORPHA:533
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:611490
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Recurrent infections, Eczematoid dermatitis, Atelectasis, Increased circulating IgE level, Osteom...	ORPHA:2314
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Interstitial Lung Disease 1	Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele...	OMIM:619611
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteomyelitis, Splenomegaly, Abscess, Skin rash, Pustule, Neutrophilia, Hepatomegaly, Pulmonary f...	OMIM:612852
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Reduced natural killer cell activity, Leukopenia, Hepatosplenomegaly, Pancytope...	OMIM:603553
Coccidioidomycosis	Abnormality of the spleen, Morbilliform rash, Abscess, Erythema nodosum, Pleural empyema, Unusual...	ORPHA:228123
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Reduced h...	ORPHA:79126
Poikiloderma With Neutropenia	Recurrent pneumonia, Recurrent otitis media, Leukopenia, Splenomegaly, Recurrent sinusitis, Skin ...	OMIM:604173
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Leukocytosis, Splenomegaly, Synovitis, Pustu...	ORPHA:77297
Postinfectious Vasculitis	Inflammatory abnormality of the skin, Increased circulating antibody level, Increased circulating...	ORPHA:48435
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Mirage Syndrome	Sepsis, Aspiration pneumonia, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Recurr...	OMIM:617053
X-Linked Centronuclear Myopathy	Pneumonia, Recurrent respiratory infections	ORPHA:596
Iga Pemphigus	Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul...	ORPHA:555905
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Eosinoph...	OMIM:158310
Shigellosis	Pneumonia, Sepsis, Microangiopathic hemolytic anemia, Ulcerative colitis, Cholestasis, Leukocytos...	ORPHA:810
Nocardiosis	Lymphadenitis, Scleritis, Meningitis, Endocarditis, Unusual CNS infection, Cutaneous abscess, Ost...	ORPHA:31204
Congenital Pulmonary Lymphangiectasia	Ascites, Hepatomegaly, Pleural effusion, Splenomegaly	ORPHA:2414
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Acute Lung Injury	Pneumonia, Diffuse alveolar hemorrhage, Sepsis, Abnormal pulmonary interstitial morphology, Acute...	ORPHA:178320
Autoimmune Hepatitis	Inflammation of the large intestine, Increased circulating IgG level, Ascites, Splenomegaly, Scle...	ORPHA:2137
Mucopolysaccharidosis-Plus Syndrome	Bone marrow hypocellularity, Nephritis, Recurrent pneumonia, Sepsis, Leukopenia, Splenomegaly, He...	OMIM:617303
Surfactant Metabolism Dysfunction, Pulmonary, 2	Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos...	OMIM:610913
Familial Mediterranean Fever	Erysipelas, Leukocytosis, Splenomegaly, Pleural effusion, Crohn's disease, Orchitis, Peritonitis,...	OMIM:249100
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level	ORPHA:99965
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Eczematoid de...	ORPHA:391487
Scrub Typhus	Skin rash, Splenomegaly, Infectious encephalitis, Lymphadenopathy, Myocarditis, Meningitis, Anter...	ORPHA:83317
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Lymphopenia, T lymphocytopenia, Recurren...	OMIM:607944
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Timothy Syndrome	Pneumonia, Recurrent infections, Cardiomegaly, Bronchitis	OMIM:601005
Idiopathic Pulmonary Fibrosis	Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Honeycomb lung, Abnormal pulmo...	ORPHA:2032
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Decreased circu...	OMIM:300972
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Psoriasiform dermatitis, Pulmo...	OMIM:617237
Macrocephaly/Autism Syndrome	Recurrent otitis media, Lymphopenia, Splenomegaly, Hepatomegaly, Recurrent infections, Decreased ...	OMIM:605309
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,...	OMIM:278000
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Abnormal pulmo...	OMIM:230800
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Reduced natural killer cell count, Recurrent viral infections, Decreased circulating total IgG, R...	ORPHA:221139
Yellow Nail Syndrome	Biliary tract neoplasm, Recurrent respiratory infections, Hypoplasia of lymphatic vessels, Sinusi...	ORPHA:662
Tarp Syndrome	Extramedullary hematopoiesis, Pulmonary hypoplasia	ORPHA:2886
Gaucher Disease Type 1	Splenic infarction, Cholelithiasis, Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leu...	ORPHA:77259
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,...	ORPHA:1414
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Erythema nodosum, Hepatome...	OMIM:615688
Hermansky-Pudlak Syndrome 10	Splenomegaly, Neutropenia, Hepatomegaly, Abnormal pulmonary interstitial morphology, Recurrent re...	OMIM:617050
Ciliary Dyskinesia, Primary, 30	Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent respiratory infections, ...	OMIM:616037
Ciliary Dyskinesia, Primary, 16	Bronchiectasis, Chronic otitis media, Chronic sinusitis, Chronic rhinitis	OMIM:614017
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Atelectasis, Hilar lymph node enlargement, Recurrent ...	OMIM:620233
Fetal Cytomegalovirus Syndrome	Hepatitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice	ORPHA:294
Adult Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Sepsis, Pancreatitis	ORPHA:70578
Combined Oxidative Phosphorylation Deficiency 51	Aspiration pneumonia	OMIM:619057
Sitosterolemia 1	Stomatocytosis, Giant platelets, Impaired platelet aggregation, Reticulocytosis, Splenomegaly, Ep...	OMIM:210250
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Recurrent aspiration pneumonia	OMIM:619971
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Aspiration pneumonia	ORPHA:90117
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,...	OMIM:602347
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Pancytopenia, Splenomegaly, Chilblai...	OMIM:615846
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Leukopenia, Splenomegaly, Infectious encephalitis, Hepatomegaly, Jaundice, Lymp...	OMIM:267700
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Recurrent infections, Bronchiectasis, Reduced sperm motility	OMIM:615434
Gaucher Disease, Type Ii	Bronchiolitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Recurrent aspiration pneumonia	OMIM:230900
Alpha-1-Antitrypsin Deficiency	Bronchitis, Hepatitis, Emphysema, Cholestasis, Cirrhosis, Hepatomegaly, Jaundice, Panniculitis, B...	ORPHA:60
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper...	OMIM:617394
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu...	ORPHA:79127
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate...	OMIM:153670
Zygomycosis	Pustule, Acute infectious pneumonia, Neutropenia, Endocarditis, Unusual skin infection, Pleural e...	ORPHA:73263
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Lymphopenia, Interstitial pneumonitis, Thrombocytopenia, Gr...	ORPHA:454831
Spondyloenchondrodysplasia	Pneumonia, Granuloma, Hepatitis, Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Arthritis,...	ORPHA:1855
Sepsis In Premature Infants	Invasive fungal infection, Leukocytosis, Splenomegaly, Hepatomegaly, Jaundice, Enterocolitis, Sev...	ORPHA:90051
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Inflammation of the large intestine, Lymphadenitis, Eczematoid dermatitis, Chol...	OMIM:615895
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Pneumonia, Abnormality of the hepatic vasculature, Sepsis, Nodular regenerativ...	ORPHA:247691
American Trypanosomiasis	Skin rash, Splenomegaly, Infectious encephalitis, Lymphadenopathy, Myocarditis, Hepatomegaly	ORPHA:3386
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Eczematoid dermatitis, Severe viral infection, Subpleural interstitial thic...	ORPHA:79128
Sporadic Creutzfeldt-Jakob Disease	Recurrent infections, Recurrent aspiration pneumonia, Sepsis	ORPHA:204
Igg4-Related Aortitis	Increased circulating IgE level, Increased circulating IgG4 level, Hypereosinophilia, Increased c...	ORPHA:449400
Cryptococcosis	Pneumonia, Sepsis, Osteomyelitis, Nodular pattern on pulmonary HRCT, Pleural effusion, Peritoniti...	ORPHA:1546
Cleft Velum	Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Splenomega...	OMIM:612301
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis	OMIM:620197
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Waldenström Macroglobulinemia	Normocytic anemia, Recurrent infections, Monoclonal immunoglobulin M proteinemia, Pleural effusio...	ORPHA:33226
Lymphatic Filariasis	Lymphadenitis, Opportunistic infection, Opportunistic bacterial infection, Hypereosinophilia, Orc...	ORPHA:2035
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leu...	OMIM:127550
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula...	OMIM:208900
Gray Platelet Syndrome	Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ...	OMIM:139090
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Hepatic cysts, Eosinophilia, Erythroderma, Recurrent infections, Decreased circulati...	OMIM:617425
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Recurrent aspiration pneumonia	ORPHA:2590
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Pleural effusion, Splenomegaly, Lymphangioma, Abnormality of the lymphatic sy...	ORPHA:464329
Igg4-Related Kidney Disease	Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Abnormal mesentery morphology, In...	ORPHA:449395
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret...	ORPHA:288
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel...	OMIM:601847
Alveolar Echinococcosis	Pulmonary cyst, Biliary cirrhosis, Cutaneous abscess, Abnormal mesentery morphology, Portal hyper...	ORPHA:284
Budd-Chiari Syndrome	Ascites, Portal hypertension, Splenomegaly, Cholecystitis, Peritonitis, Cirrhosis, Hepatomegaly, ...	ORPHA:131
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Uveitis, Erysipelas, Fasciitis, Leukocytosis, Splenomegaly, Skin rash, Orchitis, Myositis, Perito...	ORPHA:32960
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Brain abscess, Severe viral infection, Pleuritis, Leukocytosis, Respiratory tract infe...	ORPHA:544482
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,...	OMIM:611881
Ciliary Dyskinesia, Primary, 2	Recurrent respiratory infections, Bronchiectasis, Otitis media, Sinusitis	OMIM:606763
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Mediastinal lymphadenopathy, Emphysema, Pancytopenia, Pleura...	OMIM:181000
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Intrahepatic cholestasis, Splenomegaly, Cirrhosis, Acholic stools, Hepatome...	OMIM:607765
Glycogen Storage Disease Ib	Inflammation of the large intestine, Gout, Splenomegaly, Hepatomegaly, Pancreatitis, Neutropenia,...	OMIM:232220
Nodular Non-Suppurative Panniculitis	Inflammatory abnormality of the eye, Hepatomegaly, Panniculitis, Splenomegaly	ORPHA:33577
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Malar rash, Pleural effusio...	ORPHA:50918
Eosinophilic Granulomatosis With Polyangiitis	Abnormal pleura morphology, Skin rash, Increased inflammatory response, Myositis, Eosinophilia, M...	ORPHA:183
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Erythroderma, Neutro...	ORPHA:3260
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Splenomegaly, Ductal bile plugs, ...	OMIM:613812
Niemann-Pick Disease, Type C2	Fetal ascites, Sea-blue histiocytosis, Bone-marrow foam cells, Splenomegaly, Hepatomegaly, Prolon...	OMIM:607625
Autoimmune Hemolytic Anemia, Warm Type	Chronic lymphatic leukemia, Jaundice, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90033
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Pulmonary cyst, Recurrent upper respiratory tract infections, Recurrent pneumonia, Cutaneous absc...	OMIM:147060
Pyruvate Dehydrogenase E1-Alpha Deficiency	Recurrent infections, Recurrent aspiration pneumonia, Polymicrogyria	ORPHA:79243
Hennekam-Beemer Syndrome	Pneumonia, Mastocytosis	ORPHA:2135
Fanconi Anemia, Complementation Group F	Pneumonia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia	OMIM:603467
Nijmegen Breakage Syndrome	Recurrent pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Recurrent infect...	OMIM:251260
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun...	ORPHA:731
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Pneumonia, Right ventricular hypertrophy	OMIM:253700
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Macrocytic anemia, Cholecystitis, Prolonged neon...	OMIM:615512
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole...	OMIM:208540
Oculopharyngodistal Myopathy	Recurrent aspiration pneumonia	ORPHA:98897
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto...	OMIM:616084
Cystic Fibrosis	Recurrent pneumonia, Biliary cirrhosis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Ch...	OMIM:219700
Orofaciodigital Syndrome Viii	Recurrent aspiration pneumonia	OMIM:300484
Loeffler Endocarditis	Eosinophilia, Left ventricular hypertrophy, Pericarditis	ORPHA:75566
Gm1 Gangliosidosis	Aspiration pneumonia, Hepatosplenomegaly, Splenomegaly, Infectious encephalitis, Recurrent respir...	ORPHA:354
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
Autoinflammatory Disease, Systemic, With Vasculitis	Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Hepatomegaly, Jaundice, Epididym...	OMIM:620376
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni...	ORPHA:217563
Igg4-Related Pachymeningitis	Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Eosinophilia, Pancreatitis...	ORPHA:449427
Primary Biliary Cholangitis	Hepatic fibrosis, Biliary cirrhosis, Hepatitis, Ascites, Portal hypertension, Splenomegaly, Abnor...	ORPHA:186
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv...	OMIM:610921
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Thrombocytopenia,...	ORPHA:77261
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Recurrent pneumonia, Hypoventilation, Aspiration pneumonia	ORPHA:314655
Pmm2-Cdg	Hepatic fibrosis, Aspiration pneumonia, Impaired neutrophil chemotaxis, Abnormal liver parenchyma...	ORPHA:79318
Meconium Aspiration Syndrome	Pneumothorax, Atelectasis, Aspiration pneumonia	ORPHA:70588
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia, Aspiration pneumonia	ORPHA:52368
Hereditary Pulmonary Alveolar Proteinosis	Crazy paving pattern, Acute infectious pneumonia	ORPHA:264675
Insulin-Resistance Syndrome Type B	Pneumonia, Nephritis, Biliary cirrhosis, Leukopenia, Skin rash, Enlarged polycystic ovaries, Enla...	ORPHA:2298
Familial Mediterranean Fever	Erysipelas, Ascites, Leukocytosis, Splenomegaly, Skin rash, Orchitis, Peritonitis, Pancreatitis, ...	ORPHA:342
Syndromic Diarrhea	Hepatic fibrosis, Peripheral pulmonary artery stenosis, Panhypogammaglobulinemia, Lymphopenia, Ab...	ORPHA:84064
Juvenile Neuronal Ceroid Lipofuscinosis	Aspiration pneumonia	ORPHA:79264
Dermatomyositis	Abnormal eosinophil morphology, Heliotrope rash, Skin rash, Lung adenocarcinoma, Myositis, Arthri...	ORPHA:221
Congenital Multicore Myopathy With External Ophthalmoplegia	Pneumonia, Recurrent respiratory infections	ORPHA:98905
Cystic Fibrosis	Recurrent Burkholderia cepacia infections, Recurrent Aspergillus infections, Exocrine pancreatic ...	ORPHA:586
Bronchial Neuroendocrine Tumor	Pneumonia, Abnormal pulmonary interstitial morphology, Chronic noninfectious lymphadenopathy, Hep...	ORPHA:97287
Multiple Myeloma	Pleural effusion, Splenomegaly, Increased circulating IgA level, Lymphadenopathy, Anemia, Increas...	ORPHA:29073
Igg4-Related Submandibular Gland Disease	Abnormal pancreas morphology, Increased circulating IgE level, Increased circulating IgG4 level, ...	ORPHA:449432
Roifman-Chitayat Syndrome	Pneumonia, Arthritis	OMIM:613328
Severe Acute Respiratory Syndrome	Acute infectious pneumonia	ORPHA:140896
Lissencephaly Due To Lis1 Mutation	Anterior predominant thick cortex pachygyria, Aspiration pneumonia, Dysgyria, Posterior predomina...	ORPHA:95232
Alpha-Mannosidosis, Infantile Form	Pneumonia, Recurrent urinary tract infections, Hepatosplenomegaly, Pancytopenia, Otitis media, Re...	ORPHA:309282
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Sepsis, Hepatitis, Macrocytic anemia, Hashimoto thyroiditis, Eosinophilia	ORPHA:199299
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cysts, Hepatome...	OMIM:263200
Hereditary Bullous Dystrophy, Macular Type	Pneumonia	ORPHA:1867
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Micronodular cirrhosis, Aspiration pneumonia, Ascites, Splenomegaly, Seborrheic dermatitis, Throm...	OMIM:301072
Igg4-Related Ophthalmic Disease	Neoplasm of the lung, Keratitis, Increased circulating IgE level, Increased circulating IgG4 leve...	ORPHA:449563
Plague	Inflammation of the large intestine, Sepsis, Lymphadenitis, Chapped lip, Enlarged mesenteric lymp...	ORPHA:707
Amoebiasis Due To Free-Living Amoebae	Pneumonia, Increased red blood cell count, Unusual skin infection, Granuloma, Respiratory tract i...	ORPHA:68
Hyperlipoproteinemia, Type Id	Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis	OMIM:615947
Liver Disease, Severe Congenital	Portal inflammation, Recurrent otitis media, Hepatic steatosis, Pulmonary edema, Abnormal hepatic...	OMIM:619991
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em...	ORPHA:95430
Hemorrhagic Fever-Renal Syndrome	Pneumonia, Leukocytosis, Pleural effusion, Pulmonary edema, Severe infection, Glomerulonephritis,...	ORPHA:340
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Pancreatitis, Aspiration pneumonia	ORPHA:431361
Sarcoidosis	Abnormal lymph node morphology, Abnormal pleura morphology, Erythema nodosum, Tubulointerstitial ...	ORPHA:797
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Recurrent respiratory infections, Recurrent infection of the gastrointestinal tract...	OMIM:612132
Mucopolysaccharidosis Type 3	Recurrent tonsillitis, Aspiration pneumonia, Adenoiditis, Respiratory tract infection, Otitis med...	ORPHA:581
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Left ventricular hypertrophy, Aspiration pneumonia	OMIM:619167
Mucopolysaccharidosis, Type Vi	Pneumonia, Hepatomegaly, Recurrent upper respiratory tract infections, Splenomegaly	OMIM:253200
Chops Syndrome	Splenomegaly, Anomalous pulmonary venous return, Aspiration pneumonia	OMIM:616368
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Hepatomegaly, Jaundice, Inflammatory abnormality of the skin	ORPHA:26793
Hyperlipoproteinemia, Type I	Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly	OMIM:238600
Classic Pantothenate Kinase-Associated Neurodegeneration	Aspiration pneumonia	ORPHA:216866
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Aspiration pneumonia	ORPHA:79255
Severe Generalized Junctional Epidermolysis Bullosa	Pneumonia, Sepsis, Recurrent urinary tract infections, Pyoderma, Pneumothorax, Gastrointestinal i...	ORPHA:79404
Degcags Syndrome	Pneumonia, Recurrent infections, Recurrent urinary tract infections, Cholestasis, Hepatosplenomeg...	OMIM:619488
Neuroleptic Malignant Syndrome	Sepsis, Aspiration pneumonia, Leukocytosis, Thrombocytopenia, Thrombocytosis	ORPHA:94093
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Pneumonia, Inflammatory abnormality of the skin, Keratitis, Sepsis, Skin rash, Keratoconjunctivit...	ORPHA:95455
Infantile Neuroaxonal Dystrophy	Aspiration pneumonia	ORPHA:35069
Proximal Spinal Muscular Atrophy	Recurrent infections due to aspiration, Recurrent aspiration pneumonia, Hypoventilation	ORPHA:70
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Pneumonia, Neonatal sepsis, Jaundice	ORPHA:90790
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hypersplenism, Interstitial pneumonitis, Splenomegaly, Hepatomegaly, Neoplasm of ...	ORPHA:77293
Ciliary Dyskinesia, Primary, 20	Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent sinusitis, Pulmonary artery s...	OMIM:615067
Cornelia De Lange Syndrome 1	Pneumonia, Duplication of internal organs, Otitis media, Thrombocytopenia	OMIM:122470
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Recurrent aspiration pneumonia, Recurrent pneumonia	OMIM:300472
Niemann-Pick Disease Type C	Fetal ascites, Aspiration pneumonia, Ascites, Hepatosplenomegaly, Abnormality of the liver, Splen...	ORPHA:646
Geleophysic Dysplasia 3	Pneumonia, Hepatomegaly	OMIM:617809
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Tracheobronchial leiomyomatosis, Recurrent respiratory infections, Keratitis, Aspiration pneumonia	ORPHA:1018
X-Linked Dystonia-Parkinsonism	Aspiration pneumonia	ORPHA:53351
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Hepatomegaly, Recurrent aspiration pneumonia, Hepatic hemangioma	ORPHA:73230
Orofaciodigital Syndrome Ix	Recurrent aspiration pneumonia	OMIM:258865
Cholera	Hyperventilation, Aspiration pneumonia	ORPHA:173
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Anomalous pulmonary venous return, Recurrent bacterial infections	ORPHA:99104
Cushing Disease	Lymphopenia, Leukocytosis, Recurrent cutaneous fungal infections, Decreased eosinophil count, Acne	ORPHA:96253
Bickerstaff Brainstem Encephalitis	Pneumonia, Severe infection, Respiratory tract infection, Recurrent gastroenteritis	ORPHA:79138
Coffin-Siris Syndrome	Recurrent upper respiratory tract infections, Aspiration pneumonia, Hepatoblastoma, Recurrent inf...	ORPHA:1465
Marshall-Smith Syndrome	Pachygyria, Recurrent aspiration pneumonia, Recurrent upper respiratory tract infections, Aspirat...	OMIM:602535
Miller-Dieker Lissencephaly Syndrome	Pachygyria, Gray matter heterotopia, Recurrent aspiration pneumonia, Agyria, Lissencephaly	OMIM:247200
Combined Oxidative Phosphorylation Deficiency 25	Aspiration pneumonia	OMIM:616430
Mercury Poisoning	Interstitial pneumonitis	ORPHA:330021
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Recurrent aspiration pneumonia, Recurrent respiratory infections	ORPHA:397715
Adult-Onset Autosomal Dominant Leukodystrophy	Recurrent urinary tract infections, Aspiration pneumonia	ORPHA:99027
Cushing Syndrome Due To Ectopic Acth Secretion	Small cell lung carcinoma, Abnormal lymph node morphology, Pancreatic adenocarcinoma, Lymphopenia...	ORPHA:99889
Tay-Sachs Disease	Aspiration pneumonia	ORPHA:845
Atrial Septal Defect, Ostium Secundum Type	Pneumonia, Recurrent bacterial infections	ORPHA:99103
Hereditary Sensory And Autonomic Neuropathy Type 4	Septic arthritis, Fasciitis, Osteomyelitis, Abscess, Tooth abscess, Recurrent Staphylococcus aure...	ORPHA:642
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Aspiration pneumonia	OMIM:619482
Wiedemann-Rautenstrauch Syndrome	Pneumonia, Hypoplasia of the thymus, Recurrent respiratory infections	OMIM:264090
Kabuki Syndrome 1	Recurrent infections, Recurrent otitis media, Recurrent aspiration pneumonia, Autoimmune thromboc...	OMIM:147920
Arboleda-Tham Syndrome	Recurrent aspiration pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Conju...	OMIM:616268
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Recurrent aspiration pneumonia, Peripheral pulmonary artery stenosis, Right ventricular hypertrop...	ORPHA:280633
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Pneumonia, Recurrent respiratory infections, Otitis media, Recurrent urinary tract infections	ORPHA:353281
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Pneumonia, Recurrent urinary tract infections, Otitis media, Recurrent respiratory infections, As...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Pneumonia, Recurrent urinary tract infections, Otitis media, Recurrent respiratory infections, As...	ORPHA:353277
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Aspiration pneumonia	ORPHA:2020
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Anemia, Hypoventilation, Aspiration pneumonia	ORPHA:438213
Opitz Gbbb Syndrome	Recurrent aspiration pneumonia, Enlarged ovaries	ORPHA:2745
Fontaine Progeroid Syndrome	Periventricular heterotopia, Left ventricular hypertrophy, Pneumothorax, Gray matter heterotopia,...	OMIM:612289
Doors Syndrome	Aspiration pneumonia, Polymicrogyria, Thrombocytosis	ORPHA:79500
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Aspiration pneumonia	ORPHA:444077
Semilobar Holoprosencephaly	Aspiration pneumonia	ORPHA:220386
Alobar Holoprosencephaly	Aspiration pneumonia	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Aspiration pneumonia	ORPHA:93926
Lobar Holoprosencephaly	Aspiration pneumonia	ORPHA:93924
Lafora Disease	Recurrent aspiration pneumonia	ORPHA:501
Yunis-Varon Syndrome	Pachygyria, Aspiration pneumonia	OMIM:216340

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Git2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Git2.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Git2^Gt(XG510)Byg	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Git2^Gt(XG510)Byg	PMC6459510

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Git2^Gt(XG510)Byg	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Git2^{tm2a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Git2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Git2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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