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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 otitis media, Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Recurre...	OMIM:245480
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Severe varicella zoster infection, T lymphocytopenia, Recurrent sinusitis, Leukopenia, Lymphopeni...	OMIM:618986
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Increased circulating antibody level, Recurrent infections...	OMIM:615285
Immunodeficiency 81	Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Recurrent inf...	OMIM:619374
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci	OMIM:233670
Immunodeficiency 51	Chronic oral candidiasis, Recurrent otitis media, Recurrent Staphylococcus aureus infections, Rec...	OMIM:613953
Immunodeficiency 86	BCGitis, Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst	OMIM:619549
Immunodeficiency 108 With Autoinflammation	Recurrent abscess formation, Impaired neutrophil chemotaxis, Recurrent aphthous stomatitis, Hypos...	OMIM:260570
Immunodeficiency 32B	BCGitis, Hepatomegaly, Anemia, Recurrent infections, Monocytopenia, Bronchiectasis, Sinusitis, Ab...	OMIM:226990
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Immunodeficiency 53	Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent uri...	OMIM:617585
Immunodeficiency 104	Recurrent otitis media, Hepatomegaly, Failure to thrive secondary to recurrent infections, Lympha...	OMIM:608971
Immunodeficiency 48	Recurrent candida infections, Pneumocystis carinii pneumonia, Impaired lymphocyte transformation ...	OMIM:269840
Immunodeficiency, Common Variable, 1	Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched mem...	OMIM:607594
Immunodeficiency 75 With Lymphoproliferation	Lymphadenopathy, Persistent EBV viremia, Decreased proportion of class-switched memory B cells, H...	OMIM:619126
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Recurrent ear infections,...	OMIM:615513
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Recurrent otitis media, Recurrent lower re...	OMIM:619220
Leukocyte Adhesion Deficiency, Type Iii	Sepsis, Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, S...	OMIM:612840
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Mediastinal lympha...	OMIM:300853
Combined Immunodeficiency, X-Linked	Pneumocystis carinii pneumonia, Decreased proportion of CD8-positive T cells, Abnormal natural ki...	OMIM:312863
Congenital Disorder Of Glycosylation, Type Iic	Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Bronchiolitis, Neutrophi...	OMIM:266265
Severe Combined Immunodeficiency, X-Linked	Chronic oral candidiasis, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutini...	OMIM:300400
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Recurrent infections, Crohn's disease, ...	OMIM:618935
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Recurrent otitis media, Lymphadenopathy, Recurrent infections, Herpes simplex encephalitis, Incre...	OMIM:618982
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Macrocytic anemia, Reduction of neutrophil motility, Rectal abscess, Leukocytosis, Neutrophilia, ...	OMIM:608203
Immunodeficiency 11B With Atopic Dermatitis	Severe cytomegalovirus infection, Pneumonia, Decreased circulating total IgM, Increased circulati...	OMIM:617638
Immunodeficiency 62	Decreased circulating total IgM, Recurrent lower respiratory tract infections, Complete or near-c...	OMIM:618459
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc...	OMIM:233710
Immunodeficiency 52	Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Persistent C...	OMIM:617514
Caspase 8 Deficiency	Lymphadenopathy, Complete or near-complete absence of specific antibody response to unconjugated ...	OMIM:607271
Activated Pi3K-Delta Syndrome	Severe cytomegalovirus infection, Recurrent otitis media, Severe Epstein Barr virus infection, He...	ORPHA:397596
Trimethylaminuria	Recurrent pneumonia, Anemia, Splenomegaly, Neutropenia	OMIM:602079
Immunodeficiency 84	Perianal abscess, Persistent EBV viremia, B lymphocytopenia, Splenomegaly, Recurrent bacterial in...	OMIM:619437
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Atopic dermatitis, T lymphocytopenia, Recurrent upper respiratory tract infections, Ab...	OMIM:618806
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Recurrent abscess formation, Chronic oral candidiasis, Recurrent candida infections, Failure to t...	ORPHA:169160
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc...	OMIM:233690
Immunodeficiency 103, Susceptibility To Fungal Infections	Chronic oral candidiasis, Deep dermatophytosis, Lymphadenopathy, Abnormal natural killer cell cou...	OMIM:212050
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Recurrent infections, Splenomegaly, Decreased circulating total IgM	OMIM:606445
Immunodeficiency 88	BCGosis, Eosinophilia	OMIM:619630
Eosinophilia, Familial	Anemia, Recurrent bronchitis, Leukocytosis, Thrombocytopenia, Eosinophilia	OMIM:131400
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Increased circulating antibody level, Plasmacytosis, Lymphopenia, Pn...	OMIM:247800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Recurrent opportun...	OMIM:601457
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Recurrent infection of the g...	OMIM:608184
Immunodeficiency 116	Recurrent viral infections, Bronchiectasis, Recurrent respiratory infections, Absence of CD8-posi...	OMIM:608957
Immunodeficiency 109 With Lymphoproliferation	Recurrent lower respiratory tract infections, Pancytopenia, Persistent EBV viremia, Complete or n...	OMIM:620282
Immunodeficiency, Common Variable, 2	Follicular hyperplasia, Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Partial absence of...	OMIM:240500
B-Cell Expansion With Nfkb And T-Cell Anergy	Recurrent infections, Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decr...	OMIM:616452
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Recurrent otitis media, Lymphadenopathy, Respiratory tract infection...	ORPHA:444463
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Increased circulating antibody level, Recurrent respiratory infections, Pancytopeni...	OMIM:614470
Granulomatous Disease, Chronic, X-Linked	Recurrent Staphylococcus aureus infections, Discoid lupus rash, Recurrent bacterial skin infectio...	OMIM:306400
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
Isolated Agammaglobulinemia	Pneumonia, Sepsis, Anemia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Abnormal ly...	ORPHA:229717
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Recurrent aphthous stomatitis, Lymphadenopathy, Recurrent infections, B...	OMIM:150550
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m...	OMIM:202700
Combined Immunodeficiency Due To Dock8 Deficiency	Chronic otitis media, Recurrent candida infections, B lymphocytopenia, Increased circulating IgE ...	ORPHA:217390
Immunodeficiency, Common Variable, 7	Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Recurrent infectio...	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	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Eosinophilopenia	Allergic rhinitis, Decreased eosinophil count	OMIM:131430
Immunodeficiency 102	Severe varicella zoster infection, Recurrent sinusitis, Leukopenia, Increased proportion of CD8-p...	OMIM:301082
Immunodeficiency 69	BCGitis, Anemia, Hemophagocytosis, Pancytopenia, BCGosis, Skin rash, Leukocytosis, Hepatosplenome...	OMIM:618963
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Crohn's disease, Optic neuritis, Splenomegaly, Psoriasiform dermatitis, Thyroiditis, Decreased ci...	ORPHA:436159
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphocytosis, Skin rash, Recurrent bacterial skin infections, Chronic oral candidiasis, Hepatosp...	ORPHA:911
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Splenomegaly, Lymphop...	OMIM:619164
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Abnormal pulmonary interstitial morphology, Anemia, Hemophagocytosis, Lymphadenopathy, Decreased ...	OMIM:613101
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology, Abnormal pleura morphology	ORPHA:724
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Skin rash, Mastocytosis,...	ORPHA:98848
Immunodeficiency 7	Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hepatomegaly, Lymp...	OMIM:615387
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Recurrent otitis media, Agammaglobulinemia, Recurrent pneumonia, Decr...	OMIM:613500
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Pleural effusion, Reticu...	ORPHA:846
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Sepsis, Neutropenia in presence of anti-neutropil antibodies, B lymp...	ORPHA:231154
Neonatal Alloimmune Neutropenia	Sepsis, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Pneumonia, Meningitis, Se...	ORPHA:464370
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina...	OMIM:618534
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Recurrent infections, Decreased ci...	OMIM:300635
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism	OMIM:183350
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Immunodeficiency 18	Defective T cell proliferation, Recurrent otitis media, Decreased circulating total IgM, Decrease...	OMIM:615615
Immunodeficiency 13	Recurrent otitis media, B lymphocytopenia, T lymphocytopenia, Bronchiectasis, Decreased proportio...	OMIM:615518
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Lymphoproliferative Syndrome 2	Aplastic anemia, EBV encephalitis, Sepsis, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancy...	OMIM:615122
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of CD3-positive T cells, Skin rash, Recurrent bacterial skin infections, Lym...	ORPHA:276
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Sepsis, Recurrent aphthous stomatitis, Recurrent lower respiratory t...	OMIM:614868
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Persistent CM...	OMIM:618495
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Recurrent otitis media, Decreased circulating IgG level, Recurrent pn...	OMIM:613502
Leukocyte Adhesion Deficiency	Perianal abscess, Severe periodontitis, Impaired platelet aggregation, Sinusitis, Bone marrow hyp...	ORPHA:2968
Immunodeficiency 42	Chronic oral candidiasis, Hepatomegaly, Recurrent aphthous stomatitis, BCGosis, Hypoplasia of the...	OMIM:616622
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Erythroderma, Hypoplasia of the thymus,...	OMIM:603554
Shwachman-Diamond Syndrome	Aplastic anemia, Macrocytic anemia, Skin rash, Chronic neutropenia, Sinusitis, Bone marrow hypoce...	ORPHA:811
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat...	ORPHA:2585
Immunodeficiency 27A	Anemia, Lymphadenopathy, Increased circulating IgG level, Salmonella osteomyelitis, Leukocytosis,...	OMIM:209950
Whim Syndrome 1	Decreased circulating antibody level, Decreased circulating IgG level, Recurrent upper respirator...	OMIM:193670
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Recurrent infections, Decreased circulating antibody level, Recurren...	OMIM:616576
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	BCGitis, Pneumonia, Sepsis, Hepatomegaly, Panhypogammaglobulinemia, Aplasia of the thymus, B lymp...	OMIM:602450
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Hepatosplenomegaly, Incr...	OMIM:615559
Primary Myelofibrosis	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, ...	ORPHA:824
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Recurrent Klebsiella infections, Recurrent candida infections, BCGosis, Salmonella osteomyelitis,...	ORPHA:319552
T-Cell Immunodeficiency With Thymic Aplasia	Chronic otitis media, Recurrent Staphylococcus aureus infections, T lymphocytopenia, Sinusitis, O...	ORPHA:83471
Agammaglobulinemia 7, Autosomal Recessive	Abnormal T cell morphology, Panhypogammaglobulinemia, Recurrent infections, Agammaglobulinemia, E...	OMIM:615214
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis, Allergic rhinitis, Conjunctivitis	ORPHA:26137
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Recurrent candida infections, Recurrent infections, B lymphocytopenia, Decreased circulating anti...	OMIM:614069
Allergic Bronchopulmonary Aspergillosis	Bronchiectasis, Abnormal eosinophil morphology, Emphysema	ORPHA:1164
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Encephalopathy Due To Prosaposin Deficiency	Recurrent respiratory infections, Hepatomegaly, Splenomegaly	ORPHA:139406
Immunodeficiency, Common Variable, 8, With Autoimmunity	Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp...	OMIM:614700
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Neonatal sepsis, Increased circulating antibody level, Decreased proportion of CD3-positive T cel...	ORPHA:169154
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Sclerosing cholangitis, Molluscum contagiosum, Recurrent sinusitis, Reduced natural killer cell c...	OMIM:243700
Microlissencephaly	Polymicrogyria, Subcortical heterotopia, Simplified gyral pattern, Pachygyria, Pneumonia, Lissenc...	ORPHA:1083
Immunodeficiency 60 And Autoimmunity	Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni...	OMIM:618394
T-Cell Immunodeficiency With Thymic Aplasia	Reduced delayed hypersensitivity, Pyoderma, Emphysema, Aplasia of the thymus, Recurrent bronchopu...	OMIM:242700
Immunodeficiency 25	Autoimmune hemolytic anemia, Recurrent candida infections, Increased circulating IgG level, Compl...	OMIM:610163
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Acute myeloid leukemia, Recurrent aphthous stomatitis, Periodontitis, Recurrent ...	ORPHA:486
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Dysgammaglobulinemia, Lymphocytosis, Splenomegaly, Neutropenia, Pancytopenia, Fu...	OMIM:308240
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Sepsis, Hepatomegaly, Recurrent lower respiratory tract infections, ...	OMIM:616100
Niemann-Pick Disease, Type B	Abnormal pulmonary interstitial morphology, Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-ma...	OMIM:607616
Immunodeficiency 92	Recurrent oral herpes, Hepatomegaly, Cholangitis, Sclerosing cholangitis, Decreased proportion of...	OMIM:619652
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Decreased circulating IgE, Pancytopenia, Recurrent infections, B lymphocytopenia, Increas...	OMIM:619824
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280794
Immunodeficiency 36 With Lymphoproliferation	Recurrent lower respiratory tract infections, Chronic lymphatic leukemia, Persistent CMV viremia,...	OMIM:616005
Cyclic Neutropenia	Perianal abscess, Sepsis, Lymphadenopathy, Recurrent tonsillitis, Periodontitis, Lymphopenia, Sin...	ORPHA:2686
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, Recurrent otitis media, B lymphocytopenia, Recurrent bronchitis, Decr...	OMIM:612692
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Immunodeficiency 97 With Autoinflammation	Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Decreased...	OMIM:619802
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Chronic oral candidiasis, Recurrent otitis media, Sterile abscess, Recurrent infections, Chronic ...	OMIM:618282
Necrobiosis Lipoidica	Granuloma, Inflammatory abnormality of the skin, Abnormality of neutrophil physiology	ORPHA:542592
Osteopetrosis, Autosomal Recessive 2	Chronic rhinitis due to narrow nasal airway, Anemia, Pancytopenia, Thrombocytopenia, Hepatospleno...	OMIM:259710
Felty Syndrome	Chronic otitis media, Sinusitis, Pericarditis, Bone marrow hypocellularity, Splenomegaly, Neutrop...	ORPHA:47612
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Atopic dermatitis, Eosinophilic infiltration of the esophagus, R...	OMIM:620532
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Bronchitis, Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Re...	ORPHA:183675
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased proportion of CD3-positive T cells, Skin rash, Reduced antigen-specific T cell prolifer...	ORPHA:331206
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly	OMIM:206400
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hepatomegaly, Hemo...	OMIM:301078
Selective Igm Deficiency	Decreased proportion of CD3-positive T cells, Crohn's disease, Decreased proportion of transition...	ORPHA:331235
Hereditary Spherocytosis	Jaundice, Anemia, Hepatomegaly, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Chediak-Higashi Syndrome	Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Periodontitis, Recurrent infections, Lymphadeno...	OMIM:214500
Tularemia	Pneumonia, Cervical lymphadenopathy, Anemia, Increased circulating antibody level, Mediastinal ly...	ORPHA:3392
Combined Immunodeficiency Due To Crac Channel Dysfunction	Chronic otitis media, Sepsis, Hepatomegaly, Lymphadenopathy, Recurrent viral infections, Thromboc...	ORPHA:169090
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Monocytosis, Neutropenia	OMIM:613107
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch...	OMIM:308230
Hemophagocytic Lymphohistiocytosis, Familial, 4	Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Skin rash, Thrombocytopenia, S...	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, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Immunodeficiency 115 With Autoinflammation	Intestinal lymphangiectasia, Anemia, Partial absence of specific antibody response to Haemophilus...	OMIM:620632
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Gastritis, B lymphocytopenia, Skin rash, Decreased circulating antibody level, ...	OMIM:618108
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Arthritis, Abnormal pleura morphology, Lymphopenia	ORPHA:2582
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Skin rash, Sinusitis, Splenomegaly, Lymphopenia, Aplasia of the thymus, Decreased circulating IgG...	OMIM:102700
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, B lymphocytopenia, Leukocytosis, Inflammation of the large intestine, Decreased circ...	OMIM:619281
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Recurrent opportunisti...	OMIM:613179
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Panhypogammaglobulinemia, Recurrent uri...	OMIM:307200
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Agammaglobulinemia 1, Autosomal Recessive	Recurrent otitis media, Panhypogammaglobulinemia, Recurrent bacterial infections, B lymphocytopen...	OMIM:601495
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Beta-Thalassemia Intermedia	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Anemia of inadequate production, Hepatocellula...	ORPHA:231222
Complement Factor B Deficiency	Recurrent meningococcal disease, Peritonitis, Pneumonia, Meningitis, Recurrent bacterial infections	OMIM:615561
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly, Recurrent upper respiratory tract infections, Interstitial pn...	OMIM:620296
Agammaglobulinemia, X-Linked	Decreased circulating IgE, T lymphocytopenia, Recurrent sinusitis, Lymph node hypoplasia, Bronchi...	OMIM:300755
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent otitis media, Increased circulating IgE level, Eczematoid dermatitis, Keratitis, Bronch...	OMIM:618523
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Immunodeficiency 56	Cirrhosis, Recurrent otitis media, Cholangitis, Panhypogammaglobulinemia, Pneumocystis jirovecii ...	OMIM:615207
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Recurrent respiratory infections, Decreased proportion of class-sw...	OMIM:619375
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent low...	OMIM:600802
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Atopic dermatitis, Recurrent viral infections, Hepatosplenomegal...	OMIM:618999
Melioidosis	Lung abscess, Unusual skin infection, Sepsis, Prostatitis, Liver abscess, Acute infectious pneumo...	ORPHA:31202
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Immunodeficiency 10	Autoimmune hemolytic anemia, Increased circulating IgG3 level, Sepsis, Recurrent otitis media, He...	OMIM:612783
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem...	OMIM:601859
Felty Syndrome	Rheumatoid arthritis, Splenomegaly, Neutropenia	OMIM:134750
Kimura Disease	Follicular hyperplasia, Eosinophilia, Increased circulating IgE level, Lymphadenopathy	ORPHA:482
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent...	ORPHA:231226
Eosinophilic Fasciitis	Myositis, Abnormal eosinophil morphology, Arthritis, Eosinophilia, Fasciitis	ORPHA:3165
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Pneumonia, Pulmonary hemorrhage, N...	ORPHA:238459
C1Q Deficiency 2	Sepsis, Recurrent otitis media, Anemia, Atelectasis, Recurrent lower respiratory tract infections...	OMIM:620321
Young Syndrome	Bronchiectasis, Recurrent bronchitis, Recurrent sinopulmonary infections, Congenital pulmonary ai...	OMIM:279000
Ciliary Dyskinesia, Primary, 41	Recurrent sinusitis, Recurrent otitis media, Immotile sperm, Bronchiectasis	OMIM:618449
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc...	OMIM:615952
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level, Intraalveolar phospholipid accumulation, Leukocytosis, Sple...	OMIM:618042
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Omenn Syndrome	Sepsis, Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Abnormal lymphocyte morphology, Eryth...	ORPHA:39041
Ciliary Dyskinesia, Primary, 46	Recurrent otitis media, Recurrent sinusitis, Recurrent pneumonia, Reduced sperm motility, Bronchi...	OMIM:619436
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Anemia, Increased mean corpuscular volume, Ascites, Sideroblastic anemia, Thrombocytopenia, Eryth...	OMIM:617021
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Immunodeficiency 40	Chronic oral candidiasis, Recurrent otitis media, Macrovesicular hepatic steatosis, Hepatomegaly,...	OMIM:616433
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Skin rash, Abnormal platelet function, Recurrent bacterial skin in...	ORPHA:167
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:52416
Scedosporiosis	Unusual skin infection, Sepsis, Pulmonary tuberculosis, Pleuritis, Opportunistic fungal infection...	ORPHA:449280
Acute Myelomonocytic Leukemia	Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis	ORPHA:517
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased proportion of class-switched memory B cells, Bronchiol...	OMIM:614878
Ciliary Dyskinesia, Primary, 33	Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Recurrent bron...	OMIM:616726
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Panacinar emphysema, Hepatocellular carcinoma, Splenomegaly, Bronchiectasis, Chronic b...	OMIM:613490
Congenital Syphilis	Myocarditis, Anemia, Pancreatitis, Lymphadenopathy, Synovitis, Prolonged neonatal jaundice, Rhini...	ORPHA:499009
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Generalized Eruptive Histiocytosis	Maculopapular exanthema, Hypereosinophilia, Histiocytosis, Leukemia	ORPHA:157991
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent abscess formation, Panhypogammaglobulinemia, Ascites, T lymphocytopenia, Recurrent aspi...	ORPHA:79124
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Pulmonary pneumatocele, Decreased circulating total IgM, Chronic mucocutaneous candidiasis, Incre...	OMIM:619752
Beta-Thalassemia Major	Anisopoikilocytosis, Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hepatomegaly, Decreased ...	ORPHA:231214
Sandhoff Disease	Recurrent respiratory infections, Hepatomegaly, Splenomegaly	ORPHA:796
Aspergillosis	Hypersensitivity pneumonitis, Invasive pulmonary aspergillosis, Pleuritis, Increased circulating ...	ORPHA:1163
Ciliary Dyskinesia, Primary, 25	Recurrent otitis media, Chronic rhinitis, Recurrent pneumonia, Recurrent sinusitis, Bronchiectasi...	OMIM:615482
Autosomal Agammaglobulinemia	Chronic otitis media, Sepsis, Recurrent infections, Arthritis, Skin rash, Meningitis, Agammaglobu...	ORPHA:33110
Ciliary Dyskinesia, Primary, 9	Chronic otitis media, Pneumonia, Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, B...	OMIM:612444
Immunodeficiency 89 And Autoimmunity	Pleural thickening, Hypochromic microcytic anemia, Recurrent lower respiratory tract infections, ...	OMIM:619632
Cinca Syndrome	Anemia, Lymphadenopathy, Arthritis, Skin rash, Leukocytosis, Hepatosplenomegaly, Eosinophilia, Me...	OMIM:607115
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopathy, Splenomegaly, Abnorm...	ORPHA:100024
Mounier-Kühn Syndrome	Pneumonia, Bronchitis, Recurrent respiratory infections, Recurrent bronchopulmonary infections	ORPHA:3347
Autoimmune Lymphoproliferative Syndrome, Type Iia	Splenomegaly, Increased circulating IgG level, Nephritis, Autoimmune thrombocytopenia, Autoimmune...	OMIM:603909
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating total IgM, Hepatomegaly, Recurrent urinary tract infections, Decreased circ...	OMIM:620210
Aggressive Systemic Mastocytosis	Anemia, Increased proportion of CD25+ mast cells, Maculopapular exanthema, Pancytopenia, Lymphade...	ORPHA:98850
Whim Syndrome	Sepsis, Severe periodontitis, Atelectasis, Parotitis, Decreased circulating antibody level, Lymph...	ORPHA:51636
Fusariosis	Onychomycosis, Sinusitis, Granuloma, Unusual CNS infection, Lymphopenia, Neutropenia, Hypersensit...	ORPHA:228119
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Pachygyria, Polymicrogyria, Aspiration pneumonia	OMIM:609528
Immunodeficiency 77	Bronchiectasis, Nontuberculous mycobacterial pulmonary infection, Cutaneous abscess, Recurrent to...	OMIM:619223
Common Variable Immunodeficiency	Chronic otitis media, Emphysema, Lymphadenopathy, Recurrent respiratory infections, Recurrent bro...	ORPHA:1572
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Ciliary Dyskinesia, Primary, 21	Recurrent otitis media, Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis	OMIM:615294
Alpha-Heavy Chain Disease	Dysgammaglobulinemia, Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly	ORPHA:100025
Pgm3-Cdg	Chronic otitis media, Decreased proportion of CD3-positive T cells, Reduced antigen-specific T ce...	ORPHA:443811
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Bronchiectasis, Decreased circulating total IgM, Recurrent lower respiratory tract infections, Re...	OMIM:615139
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Jaundice, Hepatomegaly, Cholestasis, Prolonged neonatal jaundice, Abnormal ...	ORPHA:79303
Say-Barber-Miller Syndrome	Abnormal T cell morphology, Panniculitis, Decreased circulating antibody level, Eczematoid dermat...	ORPHA:3132
Thrombocythemia 1	Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp...	OMIM:187950
Good Syndrome	Anemia, Mediastinal lymphadenopathy, Abnormal leukocyte morphology, Recurrent urinary tract infec...	ORPHA:169105
Chronic Granulomatous Disease	Sepsis, Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Inflammatory abnormality of the...	ORPHA:379
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Pfapa Syndrome	Hepatomegaly, Recurrent pharyngitis, Lymphadenopathy, Arthritis, Splenomegaly, Infectious encepha...	ORPHA:42642
Pneumocystosis	Chronic oral candidiasis, Abnormal neutrophil count, Increased circulating antibody level, Acute ...	ORPHA:723
Follicular Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology, Pleural effusion, S...	ORPHA:545
Staphylococcal Necrotizing Pneumonia	Pneumothorax, Pulmonary pneumatocele, Sepsis, Acute infectious pneumonia, Pleural empyema, Pleura...	ORPHA:36238
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Chronic otitis media, Atelectasis, Bronchiectasis, Lissencephaly, Recurrent respiratory infections	OMIM:619466
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Bronchiectasis, Decreased proportion of CD4-positive T cells, Recurrent infections	ORPHA:477814
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Immunodeficiency 43	Lung abscess, Abnormal circulating IgM level, B lymphocytopenia, Decreased circulating IgG level,...	OMIM:241600
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Arthritis, Decreased FOXP3-expressing T cell count, Increased circulatin...	OMIM:304790
Ciliary Dyskinesia, Primary, 29	Bronchiectasis, Recurrent respiratory infections, Decreased circulating antibody level, Atelectasis	OMIM:615872
Ciliary Dyskinesia, Primary, 14	Polysplenia, Recurrent pneumonia, Reduced sperm motility, Otitis media, Bronchiectasis, Recurrent...	OMIM:613807
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Pulmonary pneumatocele, Hepatomegaly, Recurrent respiratory infectio...	OMIM:620565
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Ciliary Dyskinesia, Primary, 23	Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasi...	OMIM:615451
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Crohn's di...	OMIM:619705
Sarcoidosis, Susceptibility To, 2	Pneumothorax, Abnormal pulmonary interstitial morphology, Hepatomegaly, Emphysema, Mediastinal ly...	OMIM:612387
Idiopathic Bronchiectasis	Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Respiratory ...	ORPHA:60033
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Arthritis, Skin rash, Leukocytosis, Increased circulating ...	ORPHA:37748
Immunodeficiency 12	Cheilitis, Absent isohemagglutinin level, Recurrent aphthous stomatitis, Recurrent lower respirat...	OMIM:615468
Immunodeficiency 23	Recurrent Staphylococcus aureus infections, Persistent EBV viremia, Increased circulating IgG lev...	OMIM:615816
Ciliary Dyskinesia, Primary, 27	Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe...	OMIM:615504
Gaucher Disease Type 2	Recurrent respiratory infections, Hepatomegaly, Splenomegaly	ORPHA:77260
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis...	OMIM:616860
Mastocytosis, Cutaneous	Cutaneous mastocytosis	OMIM:154800
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Chilblains, Thrombocytopenia, Splenomegaly, Hemolytic anemia	OMIM:615010
Babesiosis	Jaundice, Hepatomegaly, Recurrent pharyngitis, Recurrent infections, Thrombocytopenia, Leukopenia...	ORPHA:108
Ciliary Dyskinesia, Primary, 39	Bronchiectasis, Recurrent otitis media, Recurrent lower respiratory tract infections	OMIM:618254
Ciliary Dyskinesia, Primary, 42	Bronchiectasis, Pneumonia, Recurrent sinusitis, Chronic rhinitis	OMIM:618695
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Lymphadenopathy, Arthritis, Skin rash, Leukocytosis, Splenomegaly,...	OMIM:611762
Autoinflammation With Infantile Enterocolitis	Anemia, Pancytopenia, Skin rash, Enterocolitis, Thrombocytopenia, Splenomegaly, Diffuse alveolar ...	OMIM:616050
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Recurrent respiratory infecti...	ORPHA:100026
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Chronic otitis media, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, M...	ORPHA:3226
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Immunodeficiency 114, Folate-Responsive	Hepatomegaly, Recurrent lower respiratory tract infections, Megaloblastic anemia, Increased circu...	OMIM:620603
Tracheobronchomegaly	Bronchiectasis, Recurrent bronchopulmonary infections	OMIM:275300
Hemophagocytic Syndrome Associated With An Infection	Severe cytomegalovirus infection, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer...	ORPHA:158048
Immunodeficiency 54	Hepatomegaly, Lymphadenopathy, Recurrent viral infections, Splenomegaly, Recurrent respiratory in...	OMIM:609981
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Bronchiectasis With Or Without Elevated Sweat Chloride 2	Bronchiectasis, Recurrent bronchiolitis, Abnormality of exocrine pancreas physiology, Chronic bro...	OMIM:613021
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Splenomegaly, Psoriasiform dermatitis, Neutropenia, Thyroiditis, Pneumonia, Recurrent gastroenter...	ORPHA:37042
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of neuronal migration, Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the lungs	ORPHA:2204
Idiopathic Achalasia	Bronchitis, Recurrent aspiration pneumonia	ORPHA:930
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Leishmaniasis	Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopathy, Pancytopenia, Abnorm...	ORPHA:507
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly	OMIM:259730
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Leukocytosis, Ascites, Hepatos...	OMIM:259720
Bullous Diffuse Cutaneous Mastocytosis	Erythroderma, Cutaneous mastocytosis	ORPHA:280785
Netherton Syndrome	Sepsis, Increased circulating IgE level, Chronic rhinitis, Eczematoid dermatitis, Decreased circu...	OMIM:256500
Hereditary Folate Malabsorption	Cheilitis, Pancytopenia, Recurrent urinary tract infections, Megaloblastic anemia, Decreased circ...	ORPHA:90045
Tyrosinemia Type 1	Hepatomegaly, Hepatocellular carcinoma, Splenomegaly	ORPHA:882
Spondylometaphyseal Dysplasia, Axial	Recurrent pneumonia, Reduced sperm motility, Splenomegaly	OMIM:602271
Ciliary Dyskinesia, Primary, 3	Recurrent sinusitis, Recurrent respiratory infections, Recurrent otitis media, Bronchiectasis	OMIM:608644
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Anemia, Panniculitis, Increased circulating antibody level, Lymphadenopathy, Myosit...	OMIM:617591
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Bronchiectasis	OMIM:620032
Bacterial Toxic-Shock Syndrome	Skin rash, Severe varicella zoster infection, Sinusitis, Myocarditis, Increased circulating myelo...	ORPHA:36234
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:610539
Muscular Hypertonia, Lethal	Pneumonia	OMIM:254120
Bronchiectasis With Or Without Elevated Sweat Chloride 3	Bronchiectasis, Chronic bronchitis	OMIM:613071
Ciliary Dyskinesia, Primary, 11	Chronic rhinitis, Recurrent sinusitis, Reduced sperm motility, Bronchiectasis, Recurrent respirat...	OMIM:612649
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Chronic oral candidiasis, Acute otitis media, Impaired lymphocyte transformation with phytohemagg...	ORPHA:35078
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Hepatomegaly, Mediastinal lymphadenopathy, Blepharitis, Thrombocytopenia,...	ORPHA:158029
Ciliary Dyskinesia, Primary, 36, X-Linked	Chronic otitis media, Recurrent respiratory infections, Recurrent sinusitis, Bronchiectasis	OMIM:300991
Graft Versus Host Disease	Gastrointestinal inflammation, Jaundice, Hemophagocytosis, Lymphadenopathy, Inflammatory abnormal...	ORPHA:39812
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Recurrent infections, Hepatocellular carcinoma, Ascites, Portal hypertension, Throm...	OMIM:619463
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Q Fever	Increased circulating antibody level, Granuloma, Pericarditis, Splenomegaly, Cholecystitis, Myoca...	ORPHA:781
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, T lymphocytopenia, Sinusitis, Increased circulating IgM level, Bronchiectasis, Reduced...	OMIM:242860
Esophagitis, Eosinophilic, 1	Eosinophilia, Esophagitis	OMIM:610247
Esophagitis, Eosinophilic, 2	Eosinophilia, Esophagitis	OMIM:613412
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Skin rash, Anemia of inadequate production, Exocrine pancreatic insuffici...	OMIM:612714
Ciliary Dyskinesia, Primary, 44	Bronchiectasis, Recurrent sinusitis, Otitis media	OMIM:618781
Immunodeficiency 58	Chronic otitis media, Seborrheic dermatitis, Onychomycosis, Molluscum contagiosum, Decreased spec...	OMIM:618131
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Persistent EBV viremia, Hepatocel...	ORPHA:158057
Prolidase Deficiency	Hepatomegaly, Anemia, Increased circulating antibody level, Recurrent infections, Eczematoid derm...	OMIM:170100
Immunodeficiency 65, Susceptibility To Viral Infections	Stomatitis, Recurrent viral infections, Recurrent gastroenteritis, Bronchiectasis	OMIM:618648
Wiskott-Aldrich Syndrome	Chronic otitis media, Abnormal platelet function, Sinusitis, Abnormal platelet morphology, Lympho...	ORPHA:906
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly	OMIM:614480
Roifman Syndrome	Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Eczematoid dermatitis, Recurrent pneumonia...	OMIM:616651
Roifman Syndrome	Recurrent otitis media, Lymphadenopathy, Decreased circulating antibody level, Eczematoid dermati...	ORPHA:353298
Ciliary Dyskinesia, Primary, 28	Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe...	OMIM:615505
Atelis Syndrome 1	Anemia, Recurrent infections, Eczematoid dermatitis, Thrombocytopenia, Leukopenia, Bronchiectasis...	OMIM:620184
Ciliary Dyskinesia, Primary, 1	Chronic otitis media, Atelectasis, Recurrent bronchitis, Chronic rhinitis, Asplenia, Bronchiectas...	OMIM:244400
Ciliary Dyskinesia, Primary, 26	Recurrent otitis media, Rhinitis, Recurrent sinusitis, Reduced sperm motility, Bronchiectasis, Re...	OMIM:615500
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hepatic fibrosis	OMIM:613313
Ciliary Dyskinesia, Primary, 12	Chronic otitis media, Chronic rhinitis, Reduced sperm motility, Bronchiectasis, Recurrent respira...	OMIM:612650
Bronchiolitis Obliterans	Bronchiectasis, Pneumonia, Respiratory tract infection, Bronchiolitis obliterans	ORPHA:1303
Isolated Congenital Hypoglossia/Aglossia	Aspiration pneumonia	ORPHA:141152
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Anemia, Splenomegaly, Aplasia/Hypoplasia of the lungs	ORPHA:1046
Ciliary Dyskinesia, Primary, 51	Chronic rhinitis, Recurrent sinusitis, Reduced sperm motility, Reduced progressive sperm motility...	OMIM:620438
Ciliary Dyskinesia, Primary, 5	Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, Recurrent pneumonia, Reduced sperm...	OMIM:608647
Classic Mycosis Fungoides	Hepatomegaly, Lymphadenopathy, Skin rash, Abnormal lymphocyte morphology, Eczematoid dermatitis, ...	ORPHA:2584
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Alpha-Mannosidosis, Adult Form	Pancytopenia, Recurrent infections, Hepatosplenomegaly, Pneumonia, Recurrent gastroenteritis	ORPHA:309288
Chronic Beryllium Disease	Hypersensitivity pneumonitis, Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T ...	ORPHA:133
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co...	OMIM:615234
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, Jaundice, Abnormality of the pancreas, Increased circulating antibody ...	ORPHA:400
Immunodeficiency 31C	Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Impaired lymphocyte transfor...	OMIM:614162
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Adult-Onset Still Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Pleuritis, Arthritis, Skin rash, Leukocytosis...	ORPHA:829
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
Ciliary Dyskinesia, Primary, 34	Recurrent bronchitis, Chronic rhinitis, Recurrent sinusitis, Bronchiectasis, Immotile sperm	OMIM:617091
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Erysipelas, Splenomegaly, Neonatal cholestatic liver disease	OMIM:214900
Ciliary Dyskinesia, Primary, 35	Chronic otitis media, Chronic rhinitis, Recurrent pneumonia, Bronchiectasis, Abdominal situs ambi...	OMIM:617092
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Lymphadenopathy, Lymphocytosis, Thyroiditis, Skin rash, Interstitial pneumonitis, Pu...	ORPHA:139402
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Panniculitis, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly	OMIM:618398
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Hepatomegaly, Choleli...	OMIM:266200
Pulmonary Alveolar Proteinosis, Acquired	Lung abscess, Intraalveolar phospholipid accumulation, Pneumonia, Recurrent respiratory infection...	OMIM:610910
Hermansky-Pudlak Syndrome 2	Recurrent abscess formation, Absent platelet dense granules, Chronic oral candidiasis, Recurrent ...	OMIM:608233
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Pancreatitis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia	ORPHA:79312
Focal Facial Dermal Dysplasia Type Iv	Abnormal mast cell morphology	ORPHA:398189
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Retinal Dystrophy And Microvillus Inclusion Disease	Bronchiectasis, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract i...	OMIM:619446
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent sinusitis, Lymphopenia, Rec...	OMIM:301000
Ciliary Dyskinesia, Primary, 43	Abdominal situs inversus, Recurrent lower respiratory tract infections, Chronic rhinitis, Recurre...	OMIM:618699
Bare Lymphocyte Syndrome, Type I	Chronic otitis media, Emphysema, Recurrent bronchitis, Bronchiolitis, Bronchiectasis, Chronic sin...	OMIM:604571
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hepati...	ORPHA:848
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:617068
Ciliary Dyskinesia, Primary, 15	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent respiratory infections, Im...	OMIM:613808
Ciliary Dyskinesia, Primary, 45	Bronchiectasis, Recurrent respiratory infections, Chronic rhinitis	OMIM:618801
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Hyper-Igd Syndrome	Chronic oral candidiasis, Lymphadenopathy, Recurrent infections, Arthritis, Skin rash, Increased ...	OMIM:260920
Ciliary Dyskinesia, Primary, 17	Recurrent otitis media, Chronic rhinitis, Bronchiectasis, Recurrent respiratory infections, Chron...	OMIM:614679
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Inflammatory abnormality of the eye, Meningitis, Leukocyto...	ORPHA:1451
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Hepatomegaly, Increased circulating IgG level, Thyroiditis, Increase...	OMIM:617388
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Arthritis, Skin rash, Pleural effusion, Pericarditis, Splenomegaly...	ORPHA:85414
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Recurrent infections...	ORPHA:64743
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Prolonged...	OMIM:257200
Immunodeficiency 82 With Systemic Inflammation	Recurrent abscess formation, Bronchitis, Skin rash, Crohn's disease, T lymphocytopenia, Splenomeg...	OMIM:619381
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal...	OMIM:616278
Avian Influenza	Pneumothorax, Sepsis, Myelitis, Lymphopenia, Pleural effusion, Meningitis, Thrombocytopenia, Leuk...	ORPHA:454836
Amyloidosis, Familial Visceral	Skin rash, Hepatomegaly, Cholestasis, Splenomegaly	OMIM:105200
Fgfr2-Related Bent Bone Dysplasia	Extramedullary hematopoiesis, Hepatosplenomegaly	ORPHA:313855
Bloom Syndrome	Cheilitis, Bronchitis, Skin rash, Severe varicella zoster infection, Acute myeloid leukemia, Recu...	ORPHA:125
Ciliary Dyskinesia, Primary, 24	Recurrent sinusitis, Recurrent otitis media, Chronic rhinitis, Bronchiectasis	OMIM:615481
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Biliary tract abnormality, Splenomegaly, Neonatal cholestatic ...	ORPHA:79301
Rigid Spine Syndrome	Pneumonia	ORPHA:97244
Brucellosis	Bronchitis, Granuloma, Pericarditis, Leukopenia, Splenomegaly, Anterior uveitis, Myocarditis, Inc...	ORPHA:1304
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:615085
Primary Ciliary Dyskinesia	Chronic otitis media, Recurrent otitis media, Atelectasis, Pulmonary situs ambiguus, Chronic rhin...	ORPHA:244
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Maculopapular exanthema, Pancytopenia, Malar rash, Skin ra...	ORPHA:398124
Sickle Cell Disease	Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg...	OMIM:603903
Congenital Disorder Of Glycosylation, Type Iij	Cirrhosis, Hepatomegaly, Recurrent infection of the gastrointestinal tract, Splenomegaly, Recurre...	OMIM:613489
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level, Ascites, Bone marr...	ORPHA:381
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Myositis, Eosinophilia	OMIM:253600
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Ski...	ORPHA:540
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Wells Syndrome	Eosinophilia	ORPHA:901
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Neonatal sepsis, Leukopenia, Splenomegaly, Lymphopenia, Neutropenia, Hepatosple...	OMIM:612541
Ciliary Dyskinesia, Primary, 32	Recurrent otitis media, Chronic rhinitis, Bronchiectasis, Recurrent respiratory infections, Chron...	OMIM:616481
Peeling Skin Syndrome 1	Erythroderma, Eosinophilia, Increased circulating IgE level	OMIM:270300
Familial Nasal Acilia	Atelectasis, Chronic rhinitis, Recurrent upper respiratory tract infections, Bronchiectasis, Chro...	ORPHA:922
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Sézary Syndrome	Hepatomegaly, Abnormal immunoglobulin level, Lymphadenopathy, Abnormal lymphocyte morphology, Spl...	ORPHA:3162
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula...	ORPHA:3202
Hurler-Scheie Syndrome	Abnormality of the tonsils, Rhinitis, Hepatomegaly, Splenomegaly	ORPHA:93476
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced hematocrit, Anemia, Hepatomegaly, Anemia of inadequate production, Persistence of hemoglo...	OMIM:613673
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Tracheobronchopathia Osteochondroplastica	Atelectasis, Bronchitis, Esophagitis, Recurrent pneumonia, Pneumonia, Recurrent respiratory infec...	ORPHA:3348
Legionnaires Disease	Myocarditis, Sepsis, Jaundice, Pancreatitis, Recurrent pharyngitis, Lymphadenopathy, Pericarditis...	ORPHA:549
Macrophage Activation Syndrome	Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Lymphadenopathy, Incr...	ORPHA:158061
Eosinophilic Gastroenteritis	Anemia, Leukocytosis, Atopic dermatitis, Ascites, Eosinophilia, Allergic rhinitis	ORPHA:2070
Ciliary Dyskinesia, Primary, 13	Recurrent sinusitis, Recurrent bronchitis, Recurrent otitis media, Bronchiectasis	OMIM:613193
Bronchiectasis With Or Without Elevated Sweat Chloride 1	Bronchiectasis, Abnormality of exocrine pancreas physiology, Chronic bronchitis	OMIM:211400
Idiopathic Chronic Eosinophilic Pneumonia	Hypersensitivity pneumonitis, Atelectasis, Increased circulating IgE level, Pleural effusion, Leu...	ORPHA:2902
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis	OMIM:619658
Harderoporphyria	Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia	OMIM:618892
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Usual interstitial pneumonia, Thrombocyto...	OMIM:620367
Farber Lipogranulomatosis	Arthritis, Lipogranulomatosis, Hepatomegaly, Splenomegaly	OMIM:228000
Ciliary Dyskinesia, Primary, 7	Bronchiectasis, Recurrent pneumonia, Recurrent otitis media, Chronic rhinitis	OMIM:611884
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Pleural effusion, Leukocytosis, Ascites, Thrombocytopenia,...	ORPHA:457077
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Hereditary Orotic Aciduria	Recurrent respiratory infections, Anemia, Splenomegaly, Impaired T cell function	ORPHA:30
Mixed Connective Tissue Disease	Myocarditis, Abnormal pulmonary interstitial morphology, Hepatomegaly, Keratoconjunctivitis sicca...	ORPHA:809
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Emphysema, Lymphadenopathy, Inflammatory abnormality of the eye, Arthritis, Skin ra...	ORPHA:36412
Riddle Syndrome	Abnormal pulmonary interstitial morphology, Generalized lymphadenopathy, Bronchitis, Arthritis, D...	ORPHA:420741
Acute Generalized Exanthematous Pustulosis	Cheilitis, Lymphadenopathy, Cholestasis, Leukocytosis, Predominantly dermal neutrophilic infiltra...	ORPHA:293173
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Hepatomegaly, Panniculitis, Lymphadenopathy, Myositis, Splenomegaly	OMIM:619183
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly	ORPHA:75233
Ciliary Dyskinesia, Primary, 22	Recurrent otitis media, Rhinitis, Recurrent sinusitis, Reduced sperm motility, Bronchiectasis, Re...	OMIM:615444
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Ciliary Dyskinesia, Primary, 19	Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe...	OMIM:614935
Microsporidiosis	Bronchitis, Sinusitis, Biliary tract abnormality, Myocarditis, Cholangitis, Thyroiditis, Bronchio...	ORPHA:2552
Autoimmune Lymphoproliferative Syndrome	Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity...	ORPHA:3261
Classic Hodgkin Lymphoma	Hepatomegaly, Lymphadenopathy, Skin rash, Bone marrow hypocellularity, Splenomegaly	ORPHA:391
Mitochondrial Complex I Deficiency, Nuclear Type 33	Bronchiectasis, Simplified gyral pattern, Aspiration pneumonia, Neutropenia	OMIM:618253
Bronchogenic Cyst	Bronchogenic cyst, Atelectasis, Abnormal peritoneum morphology, Abnormal pleura morphology, Pneum...	ORPHA:2357
Infant Acute Respiratory Distress Syndrome	Pulmonary edema, Sepsis, Atelectasis, Respiratory tract infection, Pneumonia	ORPHA:70587
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Sepsis, Recurrent otitis media, Recurrent pharyngitis, Recurrent bronchitis, Abnormal lymphocyte ...	ORPHA:293978
Pulmonary Non-Tuberculous Mycobacterial Infection	Mycobacterium abscessus abscessus infection, Pneumothorax, Lymphadenopathy, Pleural effusion, Bro...	ORPHA:411703
Listeriosis	Pericarditis, Pustule, Unusual CNS infection, Cholecystitis, Granulomatosis, Myocarditis, Jaundic...	ORPHA:533
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Chronic otitis media, Atelectasis, Recurrent infections, Skin rash, Increased circulating IgE lev...	ORPHA:2314
Interstitial Lung Disease 1	Intralobular septal thickening, Nonspecific interstitial pneumonia, Elevated bronchoalveolar lava...	OMIM:619611
Cold Agglutinin Disease	Lymphadenopathy, Hepatomegaly, Splenomegaly, Hemolytic anemia	ORPHA:56425
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Stomatitis, Skin rash, Pustule, Neutrophilia, Splenomegaly, Pulmonary fibrosis, Abs...	OMIM:612852
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Hemophagocytic Lymphohistiocytosis, Familial, 2	Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Pancytopenia, Lymphadenopathy, Skin rash, Leuko...	OMIM:603553
Coccidioidomycosis	Skin rash, Granuloma, Pericarditis, Unusual CNS infection, Erythema nodosum, Morbilliform rash, C...	ORPHA:228123
Acute Interstitial Pneumonia	Reduced hematocrit, Atelectasis, Lymphadenopathy, Pleural effusion, Bronchiectasis, Interlobular ...	ORPHA:79126
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Poikiloderma With Neutropenia	Recurrent otitis media, Skin rash, Recurrent bronchopulmonary infections, Blepharitis, Recurrent ...	OMIM:604173
Majeed Syndrome	Hepatomegaly, Hypochromic microcytic anemia, Leukocytosis, Synovitis, Pustule, Osteomyelitis, Spl...	ORPHA:77297
Postinfectious Vasculitis	Recurrent Staphylococcus aureus infections, Increased circulating antibody level, Severe varicell...	ORPHA:48435
Mirage Syndrome	Sepsis, Anemia, Recurrent urinary tract infections, Aspiration pneumonia, Hypoplastic spleen, Thr...	OMIM:617053
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
X-Linked Centronuclear Myopathy	Pneumonia, Recurrent respiratory infections	ORPHA:596
Mucoepithelial Dysplasia, Hereditary	Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Recurrent pneumonia, Pneumonia, Eosinoph...	OMIM:158310
Iga Pemphigus	Increased circulating IgA level, Monoclonal elevation of circulating IgA, Eosinophilia, Pustule, ...	ORPHA:555905
Shigellosis	Myocarditis, Sepsis, Acute colitis, Arthritis, Splenic abscess, Cholestasis, Leukocytosis, Conjun...	ORPHA:810
Nocardiosis	Pericarditis, Unusual CNS infection, Thyroiditis, Conjunctivitis, Pneumonia, Scleritis, Cutaneous...	ORPHA:31204
Congenital Pulmonary Lymphangiectasia	Ascites, Hepatomegaly, Pleural effusion, Splenomegaly	ORPHA:2414
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Acute Lung Injury	Abnormal pulmonary interstitial morphology, Sepsis, Acute pancreatitis, Pneumonia, Diffuse alveol...	ORPHA:178320
Autoimmune Hepatitis	Cirrhosis, Jaundice, Increased circulating antibody level, Sclerosing cholangitis, Acute hepatiti...	ORPHA:2137
Mucopolysaccharidosis-Plus Syndrome	Sepsis, Enlarged kidney, Anemia, Macrovesicular hepatic steatosis, Hepatomegaly, Recurrent bronch...	OMIM:617303
Surfactant Metabolism Dysfunction, Pulmonary, 2	Intraalveolar phospholipid accumulation, Nonspecific interstitial pneumonia, Intralobular septal ...	OMIM:610913
Familial Mediterranean Fever	Hepatomegaly, Pleuritis, Crohn's disease, Arthritis, Pleural effusion, Leukocytosis, Pericarditis...	OMIM:249100
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Recurrent Aspergillus infections, B lymphocytopenia, Neutropenia in ...	ORPHA:391487
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level	ORPHA:99965
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent otitis media, Lymphadenopathy, Recurrent respiratory infections, Juvenile rheumatoid ar...	OMIM:607944
Scrub Typhus	Myocarditis, Lymphadenopathy, Skin rash, Splenomegaly, Anterior uveitis, Meningitis, Infectious e...	ORPHA:83317
Nephronophthisis 19	Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ...	OMIM:616217
Idiopathic Pulmonary Fibrosis	Abnormal pulmonary interstitial morphology, Reticular pattern on pulmonary HRCT, Honeycomb lung, ...	ORPHA:2032
Immunodeficiency 47	Decreased circulating total IgG, Normocytic anemia, Cirrhosis, Hepatomegaly, Accessory spleen, Re...	OMIM:300972
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Pulmonary artery s...	OMIM:617237
Timothy Syndrome	Pneumonia, Bronchitis, Recurrent infections, Cardiomegaly	OMIM:601005
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Chronic oral candidiasis, Decreased circulating total IgG, B lymphocytopenia, Arthritis, Recurren...	ORPHA:221139
Macrocephaly/Autism Syndrome	Recurrent otitis media, Hepatomegaly, Recurrent infections, Decreased circulating antibody level,...	OMIM:605309
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension...	OMIM:278000
Yellow Nail Syndrome	Hypoplasia of lymphatic vessels, Pleuritis, Neoplasm of the lung, Sinusitis, Rhinitis, Biliary tr...	ORPHA:662
Gaucher Disease, Type I	Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia,...	OMIM:230800
Tarp Syndrome	Extramedullary hematopoiesis, Pulmonary hypoplasia	ORPHA:2886
Gaucher Disease Type 1	Abnormal pulmonary interstitial morphology, Cirrhosis, Anemia, Increased circulating antibody lev...	ORPHA:77259
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Bili...	ORPHA:1414
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Skin rash, Bone marrow hypocellularity, Recurrent sinusitis, Leukopenia, Splenomegaly, Lymphopeni...	OMIM:615688
Hermansky-Pudlak Syndrome 10	Abnormal pulmonary interstitial morphology, Hepatomegaly, Splenomegaly, Recurrent respiratory inf...	OMIM:617050
Ciliary Dyskinesia, Primary, 30	Recurrent otitis media, Bronchiectasis, Recurrent respiratory infections, Chronic sinusitis, Chro...	OMIM:616037
Ciliary Dyskinesia, Primary, 16	Chronic otitis media, Chronic sinusitis, Chronic rhinitis, Bronchiectasis	OMIM:614017
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Recurrent otitis media, Atelectasis, Recurrent lower ...	OMIM:620233
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis	ORPHA:294
Adult Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Sepsis, Pancreatitis	ORPHA:70578
Combined Oxidative Phosphorylation Deficiency 51	Aspiration pneumonia	OMIM:619057
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Recurrent aspiration pneumonia	OMIM:619971
Sitosterolemia 1	Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, Arthritis, Epis...	OMIM:210250
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Aspiration pneumonia	ORPHA:90117
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Anemia, Recurrent lower respiratory tract infections, Increased circulating antibod...	OMIM:615846
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal fibrosis, Portal inflammation...	OMIM:602347
Hemophagocytic Lymphohistiocytosis, Familial, 1	Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Leukopenia, ...	OMIM:267700
Fish-Eye Disease	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:79292
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Bronchiectasis, Recurrent infections, Reduced sperm motility	OMIM:615434
Gaucher Disease, Type Ii	Hepatomegaly, Anemia, Bronchiolitis, Recurrent aspiration pneumonia, Thrombocytopenia, Splenomegaly	OMIM:230900
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Jaundice, Panniculitis, Emphysema, Hepatomegaly, Bronchitis, Hepatocellular carcinoma,...	ORPHA:60
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole...	OMIM:617394
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Respiratory tract infection, Bronchiecta...	ORPHA:79127
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Impaired ristocetin-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Incr...	OMIM:153670
Zygomycosis	Acute infectious pneumonia, Sinusitis, Pericarditis, Pustule, Neutropenia, Myocarditis, Splenic a...	ORPHA:73263
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Thrombocytopenia, Lymphopenia, Interstitial pneumonitis, Gr...	ORPHA:454831
Spondyloenchondrodysplasia	Autoimmune hemolytic anemia, Juvenile rheumatoid arthritis, Pancytopenia, Recurrent infections, A...	ORPHA:1855
Sepsis In Premature Infants	Neonatal sepsis, Anemia, Jaundice, Hepatomegaly, Leukocytosis, Invasive fungal infection, Severe ...	ORPHA:90051
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Cholestasis, Leukocytosis, Lymphadenitis, Eczematoid derma...	OMIM:615895
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Sepsis, Normochromic anemia, Skin rash, Abnormality of the hepatic vasculature...	ORPHA:247691
American Trypanosomiasis	Myocarditis, Hepatomegaly, Lymphadenopathy, Skin rash, Splenomegaly, Infectious encephalitis	ORPHA:3386
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy, Skin rash, Eczematoid dermatitis, Bro...	ORPHA:79128
Sporadic Creutzfeldt-Jakob Disease	Recurrent infections, Sepsis, Recurrent aspiration pneumonia	ORPHA:204
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Igg4-Related Aortitis	Increased circulating antibody level, Increased circulating IgE level, Increased circulating IgG4...	ORPHA:449400
Cryptococcosis	Pneumonia, Prostatitis, Sepsis, Mediastinal lymphadenopathy, Cirrhosis, Pleural effusion, Periton...	ORPHA:1546
Cleft Velum	Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Anemia, Decreased circulating IgG level, Recurrent pneumonia, Splenomegaly, Decreas...	OMIM:612301
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis	OMIM:620197
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Splenomegaly	ORPHA:90037
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent infections, Pleural effusion, Splenom...	ORPHA:33226
Lymphatic Filariasis	Lymphangiectasis, Lymphadenopathy, Knee osteoarthritis, Abnormality of the lymphatic system, Lymp...	ORPHA:2035
Ataxia-Telangiectasia	Recurrent lower respiratory tract infections, Recurrent bronchitis, Hypoplasia of the thymus, T l...	OMIM:208900
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Interstitial pneumonitis, ...	OMIM:127550
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla...	OMIM:139090
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Recurrent infections, Decreased circulating antibody level, Lymphopenia, Erythroderma, Eosinophil...	OMIM:617425
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Recurrent aspiration pneumonia	ORPHA:2590
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Pleural...	ORPHA:464329
Igg4-Related Kidney Disease	Enlarged kidney, Sclerosing cholangitis, Pericarditis, Increased circulating IgG4 level, Cholecys...	ORPHA:449395
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy...	ORPHA:288
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Alveolar Echinococcosis	Liver abscess, Anemia, Cholangitis, Increased circulating antibody level, Jaundice, Abnormal sple...	ORPHA:284
Infection-Related Hemolytic Uremic Syndrome	Myocarditis, Pancreatitis, Pleuritis, Acute colitis, Pleural empyema, Leukocytosis, Severe viral ...	ORPHA:544482
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Ascites, Portal hypertension, Splenomegaly, Peritonitis, Chole...	ORPHA:131
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Recurrent pharyngitis, Lymphadenopathy, Pleuritis, Myositis, Arthritis, Skin rash, Leukocytosis, ...	ORPHA:32960
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Anemia, Decreased erythrocyte fructose-1,6-bisphosphate aldolase act...	OMIM:611881
Ciliary Dyskinesia, Primary, 2	Sinusitis, Recurrent respiratory infections, Otitis media, Bronchiectasis	OMIM:606763
Sarcoidosis, Susceptibility To, 1	Abnormal pulmonary interstitial morphology, Hepatomegaly, Emphysema, Increased circulating antibo...	OMIM:181000
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Intrahepatic cholestasis, Giant cell hepatitis, Jaundice, Hepatomegaly, Splenomegaly, ...	OMIM:607765
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Hepatocellular carcinoma, Inflammation of the large ...	OMIM:232220
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Panniculitis, Splenomegaly, Inflammatory abnormality of the eye	ORPHA:33577
Kikuchi-Fujimoto Disease	Myocarditis, Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Lymphadenopathy, A...	ORPHA:50918
Eosinophilic Granulomatosis With Polyangiitis	Myocarditis, Myositis, Arthritis, Skin rash, Sinusitis, Endocarditis, Abnormal pleura morphology,...	ORPHA:183
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Splenomegaly, Cholangitis, Neutrophilia, Hepatosplenomegaly, Pulmonary fibrosis,...	ORPHA:3260
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Bile duct proliferat...	OMIM:613812
Niemann-Pick Disease, Type C2	Sea-blue histiocytosis, Jaundice, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundi...	OMIM:607625
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Splenomegaly, Chronic lymphatic leukemia	ORPHA:90033
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Chronic oral candidiasis, Recurrent Staphylococcus aureus infections, Skin rash, Pleural empyema,...	OMIM:147060
Pyruvate Dehydrogenase E1-Alpha Deficiency	Recurrent infections, Polymicrogyria, Recurrent aspiration pneumonia	ORPHA:79243
Hennekam-Beemer Syndrome	Pneumonia, Mastocytosis	ORPHA:2135
Fanconi Anemia, Complementation Group F	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Pneumonia	OMIM:603467
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Dysgammaglobulinemia, Recurrent otitis media, B lymphocytopenia, Rec...	OMIM:251260
Caroli Disease	Cirrhosis, Liver abscess, Jaundice, Cholangitis, Intrahepatic cholestasis, Cholelithiasis, Hepato...	ORPHA:53035
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Pneumonia, Right ventricular hypertrophy	OMIM:253700
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Abnormal intrahepatic b...	ORPHA:731
Triosephosphate Isomerase Deficiency	Normocytic anemia, Chronic hemolytic anemia, Jaundice, Normochromic anemia, Macrocytic anemia, Ch...	OMIM:615512
Oculopharyngodistal Myopathy	Recurrent aspiration pneumonia	ORPHA:98897
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cirrhosis, Hepatomegaly, Cholestasis, Biliary cirrhosis...	OMIM:208540
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibody level, Siderobla...	OMIM:616084
Cystic Fibrosis	Cirrhosis, Hepatomegaly, Pancreatitis, Biliary cirrhosis, Recurrent bronchopulmonary infections, ...	OMIM:219700
Orofaciodigital Syndrome Viii	Recurrent aspiration pneumonia	OMIM:300484
Loeffler Endocarditis	Eosinophilia, Pericarditis, Left ventricular hypertrophy	ORPHA:75566
Gm1 Gangliosidosis	Aspiration pneumonia, Hepatosplenomegaly, Splenomegaly, Recurrent respiratory infections, Infecti...	ORPHA:354
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
Autoinflammatory Disease, Systemic, With Vasculitis	Cholestasis, Increased T cell count, Splenomegaly, Cardiomegaly, Jaundice, Atopic dermatitis, Hep...	OMIM:620376
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Intraalveolar phos...	ORPHA:217563
Igg4-Related Pachymeningitis	Pancreatitis, Parotitis, Lymphadenitis, Sinusitis, Abnormal lung morphology, Nephritis, Increased...	ORPHA:449427
Primary Biliary Cholangitis	Gastrointestinal inflammation, Cirrhosis, Jaundice, Hepatomegaly, Increased circulating IgA level...	ORPHA:186
Surfactant Metabolism Dysfunction, Pulmonary, 3	Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Intraalveolar phosphol...	OMIM:610921
Gaucher Disease Type 3	Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Increased circulating antibody ...	ORPHA:77261
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Hypoventilation, Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
Pmm2-Cdg	Abnormal liver parenchyma morphology, Aspiration pneumonia, Pericarditis, Impaired neutrophil che...	ORPHA:79318
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia, Aspiration pneumonia	ORPHA:52368
Meconium Aspiration Syndrome	Pneumothorax, Atelectasis, Aspiration pneumonia	ORPHA:70588
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Hereditary Pulmonary Alveolar Proteinosis	Acute infectious pneumonia, Crazy paving pattern	ORPHA:264675
Insulin-Resistance Syndrome Type B	Increased circulating IgG level, Skin rash, Increased circulating IgA level, Biliary cirrhosis, E...	ORPHA:2298
Juvenile Neuronal Ceroid Lipofuscinosis	Aspiration pneumonia	ORPHA:79264
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Pleuritis, Arthritis, Skin rash, Leukocytosis, Ascites, Pericardit...	ORPHA:342
Syndromic Diarrhea	Cirrhosis, Hepatomegaly, Gastritis, Panhypogammaglobulinemia, Recurrent infections, Hypoplasia of...	ORPHA:84064
Congenital Multicore Myopathy With External Ophthalmoplegia	Pneumonia, Recurrent respiratory infections	ORPHA:98905
Dermatomyositis	Myocarditis, Abnormal pulmonary interstitial morphology, Myositis, Abnormal eosinophil morphology...	ORPHA:221
Cystic Fibrosis	Pneumothorax, Nontuberculous mycobacterial pulmonary infection, Cirrhosis, Recurrent Staphylococc...	ORPHA:586
Bronchial Neuroendocrine Tumor	Pneumonia, Abnormal pulmonary interstitial morphology, Hepatomegaly, Chronic noninfectious lympha...	ORPHA:97287
Multiple Myeloma	Anemia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgA level, Decrea...	ORPHA:29073
Igg4-Related Submandibular Gland Disease	Prostatitis, Increased circulating antibody level, Cholangitis, Abnormal pancreas morphology, Inc...	ORPHA:449432
Roifman-Chitayat Syndrome	Pneumonia, Arthritis	OMIM:613328
Severe Acute Respiratory Syndrome	Acute infectious pneumonia	ORPHA:140896
Lissencephaly Due To Lis1 Mutation	Dysgyria, Posterior predominant thick cortex pachygyria, Agyria, Aspiration pneumonia, Anterior p...	ORPHA:95232
Alpha-Mannosidosis, Infantile Form	Pancytopenia, Recurrent infections, Recurrent urinary tract infections, Hepatosplenomegaly, Otiti...	ORPHA:309282
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Sepsis, Macrocytic anemia, Hashimoto thyroiditis, Eosinophilia, Hepatitis	ORPHA:199299
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Portal hypertension, Pulmonary hypoplasia, Sp...	OMIM:263200
Hereditary Bullous Dystrophy, Macular Type	Pneumonia	ORPHA:1867
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Seborrheic dermatitis, Ascites, Aspiration pneumonia, Thrombocytopenia, Splenomegal...	OMIM:301072
Igg4-Related Ophthalmic Disease	Prostatitis, Pancreatitis, Cholangitis, Lymphadenopathy, Thyroiditis, Increased circulating IgE l...	ORPHA:449563
Plague	Carbuncle, Sepsis, Hepatomegaly, Inflammatory abnormality of the eye, Acute infectious pneumonia,...	ORPHA:707
Amoebiasis Due To Free-Living Amoebae	Unusual skin infection, Increased red blood cell count, Sinusitis, Granuloma, Pustule, Respirator...	ORPHA:68
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis, Colitis	OMIM:615947
Congenital Tracheomalacia	Pneumothorax, Emphysema, Cardiomegaly, Bronchiectasis, Pulmonary hypoplasia, Partial anomalous pu...	ORPHA:95430
Liver Disease, Severe Congenital	Lymphocytosis, Ascites, Biliary hyperplasia, Leukopenia, Splenomegaly, Cardiomegaly, Hepatic stea...	OMIM:619991
Hemorrhagic Fever-Renal Syndrome	Pulmonary edema, Anemia, Acute tubulointerstitial nephritis, Pleural effusion, Leukocytosis, Seve...	ORPHA:340
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Pancreatitis, Aspiration pneumonia	ORPHA:431361
Sarcoidosis	Increased T cell count, Leukopenia, Erythema nodosum, Portal hypertension, Abnormal lung morpholo...	ORPHA:797
Mucopolysaccharidosis Type 3	Chronic otitis media, Hepatomegaly, Adenoiditis, Recurrent tonsillitis, Aspiration pneumonia, Res...	ORPHA:581
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Aspiration pneumonia, Left ventricular hypertrophy	OMIM:619167
Ectodermal Dysplasia And Immunodeficiency 2	Recurrent respiratory infections, Recurrent infection of the gastrointestinal tract, Splenomegaly...	OMIM:612132
Mucopolysaccharidosis, Type Vi	Pneumonia, Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections	OMIM:253200
Chops Syndrome	Anomalous pulmonary venous return, Splenomegaly, Aspiration pneumonia	OMIM:616368
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Jaundice, Inflammatory abnormality of the skin, Hepatomegaly	ORPHA:26793
Hyperlipoproteinemia, Type I	Acute pancreatitis, Jaundice, Hepatosplenomegaly, 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	Pneumothorax, Gastrointestinal inflammation, Sepsis, Pyoderma, Anemia, Recurrent urinary tract in...	ORPHA:79404
Degcags Syndrome	Hepatomegaly, Anemia, Iron deficiency anemia, Pancytopenia, Recurrent infections, Recurrent urina...	OMIM:619488
Neuroleptic Malignant Syndrome	Sepsis, Leukocytosis, Aspiration pneumonia, Thrombocytopenia, Thrombocytosis	ORPHA:94093
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Gastrointestinal inflammation, Sepsis, Anemia, Skin rash, Rhinitis, Anterior uveitis, Inflammator...	ORPHA:95455
Infantile Neuroaxonal Dystrophy	Aspiration pneumonia	ORPHA:35069
Proximal Spinal Muscular Atrophy	Hypoventilation, Recurrent aspiration pneumonia, Recurrent infections due to aspiration	ORPHA:70
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Pneumonia, Jaundice, Neonatal sepsis	ORPHA:90790
Chronic Visceral Acid Sphingomyelinase Deficiency	Abnormal pulmonary interstitial morphology, Cirrhosis, Hepatomegaly, Cholelithiasis, Acute promye...	ORPHA:77293
Ciliary Dyskinesia, Primary, 20	Recurrent otitis media, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Recurrent si...	OMIM:615067
Cornelia De Lange Syndrome 1	Pneumonia, Thrombocytopenia, Duplication of internal organs, Otitis media	OMIM:122470
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Recurrent pneumonia, Recurrent aspiration pneumonia	OMIM:300472
Niemann-Pick Disease Type C	Jaundice, Hepatomegaly, Bone-marrow foam cells, Ascites, Aspiration pneumonia, Abnormal lung morp...	ORPHA:646
Geleophysic Dysplasia 3	Pneumonia, Hepatomegaly	OMIM:617809
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Aspiration pneumonia, Recurrent respiratory infections, Keratitis, Tracheobronchial leiomyomatosis	ORPHA:1018
X-Linked Dystonia-Parkinsonism	Aspiration pneumonia	ORPHA:53351
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Hepatic hemangioma, Hepatomegaly, Recurrent aspiration pneumonia	ORPHA:73230
Orofaciodigital Syndrome Ix	Recurrent aspiration pneumonia	OMIM:258865
Cholera	Aspiration pneumonia, Hyperventilation	ORPHA:173
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Anomalous pulmonary venous return, Recurrent bacterial infections	ORPHA:99104
Cushing Disease	Decreased eosinophil count, Lymphopenia, Leukocytosis, Acne, Recurrent cutaneous fungal infections	ORPHA:96253
Bickerstaff Brainstem Encephalitis	Pneumonia, Respiratory tract infection, Recurrent gastroenteritis, Severe infection	ORPHA:79138
Coffin-Siris Syndrome	Recurrent infections, Aspiration pneumonia, Simplified gyral pattern, Recurrent upper respiratory...	ORPHA:1465
Marshall-Smith Syndrome	Pachygyria, Recurrent aspiration pneumonia, Aspiration pneumonia, Recurrent upper respiratory tra...	OMIM:602535
Miller-Dieker Lissencephaly Syndrome	Agyria, Gray matter heterotopia, Recurrent aspiration pneumonia, Pachygyria, 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 respiratory infections, Recurrent aspiration pneumonia	ORPHA:397715
Adult-Onset Autosomal Dominant Leukodystrophy	Recurrent urinary tract infections, Aspiration pneumonia	ORPHA:99027
Cushing Syndrome Due To Ectopic Acth Secretion	Acne, Small cell lung carcinoma, Pancreatic adenocarcinoma, Abnormal lymph node morphology, Decre...	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	Anemia, Recurrent Staphylococcus aureus infections, Tooth abscess, Recurrent aspiration pneumonia...	ORPHA:642
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Aspiration pneumonia	OMIM:619482
Wiedemann-Rautenstrauch Syndrome	Pneumonia, Recurrent respiratory infections, Hypoplasia of the thymus	OMIM:264090
Kabuki Syndrome 1	Recurrent otitis media, Recurrent infections, Recurrent aspiration pneumonia, Autoimmune thromboc...	OMIM:147920
Arboleda-Tham Syndrome	Chronic otitis media, Recurrent otitis media, Recurrent urinary tract infections, Recurrent aspir...	OMIM:616268
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Pneumonia, Recurrent urinary tract infections, Recurrent respiratory infections, Otitis media	ORPHA:353281
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent urinary tract infections, Aspiration, Otitis media, Pneumonia, Recurrent respiratory in...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent urinary tract infections, Aspiration, Otitis media, Pneumonia, Recurrent respiratory in...	ORPHA:353277
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Blepharitis, Peripheral pulmonary artery stenosis, Recurrent aspiration pneumonia, Right ventricu...	ORPHA:280633
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Aspiration pneumonia	ORPHA:2020
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypoventilation, Anemia, Aspiration pneumonia	ORPHA:438213
Opitz Gbbb Syndrome	Enlarged ovaries, Recurrent aspiration pneumonia	ORPHA:2745
Fontaine Progeroid Syndrome	Pneumothorax, Gray matter heterotopia, Recurrent aspiration pneumonia, Pulmonary hypoplasia, Left...	OMIM:612289
Doors Syndrome	Polymicrogyria, Thrombocytosis, Aspiration pneumonia	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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