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Gene: Bcl6 MGI:107187

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

B cell leukemia/lymphoma 6

Synonyms:

Bcl5

Order Alleles

IMPC Data Collections

No Body Weight Data
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.

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.

Phenotype associated images not available

Human diseases caused by Bcl6 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 Bcl6 (1 diseases)
Human diseases predicted to be associated with Bcl6 (1120 diseases)

The table below shows human diseases associated to Bcl6 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Follicular Lymphoma		Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology, Pleural effusion, S...	ORPHA:545

The table below shows human diseases predicted to be associated to Bcl6 by phenotypic similarity.

Disease	Matching phenotypes	Source
Spermatogenic Failure 1	Male infertility, Oligozoospermia, Cryptozoospermia	OMIM:258150
Spermatogenic Failure, X-Linked, 3	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla...	OMIM:301059
Spermatogenic Failure 40	Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C...	OMIM:618664
Spermatogenic Failure 80	Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse...	OMIM:620222
Spermatogenic Failure 76	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap...	OMIM:620084
Spermatogenic Failure 47	Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella	OMIM:619102
Spermatogenic Failure 54	Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol...	OMIM:619379
Spermatogenic Failure 84	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:620409
Spermatogenic Failure 79	Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility	OMIM:620196
Spermatogenic Failure 65	Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red...	OMIM:619712
Spermatogenic Failure 56	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:619515
Spermatogenic Failure 11	Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility	OMIM:614822
Spermatogenic Failure 58	Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo...	OMIM:619585
Spermatogenic Failure 39	Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili...	OMIM:618643
Spermatogenic Failure 48	Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia	OMIM:619108
Spermatogenic Failure 41	Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm	OMIM:618670
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Spermatogenic Failure 22	Male infertility, Cryptozoospermia, Non-obstructive azoospermia	OMIM:617706
Spermatogenic Failure 7	Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility	OMIM:612997
Spermatogenic Failure 51	Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz...	OMIM:619177
Spermatogenic Failure 70	Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia	OMIM:619828
Spermatogenic Failure 63	Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility	OMIM:619689
Spermatogenic Failure 25	Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm...	OMIM:617960
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Partial Chromosome Y Deletion	Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr...	ORPHA:1646
Spermatogenic Failure 8	Oligozoospermia, Cryptozoospermia, Azoospermia	OMIM:613957
Spermatogenic Failure 30	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism	OMIM:618110
Caspase 8 Deficiency	Reduced CD95-induced lymphocyte apoptosis, Lymphadenopathy, Complete or near-complete absence of ...	OMIM:607271
Immunodeficiency, Common Variable, 1	Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched mem...	OMIM:607594
Immunodeficiency, Common Variable, 2	Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Recurrent bacterial infections, Partial ab...	OMIM:240500
Spermatogenic Failure 81	Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility	OMIM:620277
Nondisjunction	Decreased fertility	OMIM:158250
Severe Combined Immunodeficiency, X-Linked	Chronic oral candidiasis, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutini...	OMIM:300400
Spermatogenic Failure 12	Infertility, Abnormal male germ cell morphology, Azoospermia	OMIM:615413
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Recurrent abscess formation, Chronic oral candidiasis, Recurrent candida infections, Increased ci...	ORPHA:169160
Spermatogenic Failure 62	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619672
Spermatogenic Failure 88	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:620547
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Immunodeficiency 24	Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti...	OMIM:615897
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Immunodeficiency 103, Susceptibility To Fungal Infections	Chronic oral candidiasis, Deep dermatophytosis, Lymphadenopathy, Abnormal natural killer cell cou...	OMIM:212050
Immunodeficiency, Common Variable, 3	Recurrent otitis media, Decreased proportion of class-switched memory B cells, Chronic decreased ...	OMIM:613493
Spermatogenic Failure 29	Male infertility, Immotile sperm, Non-obstructive azoospermia	OMIM:618091
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Immunodeficiency 62	Decreased circulating total IgM, Recurrent lower respiratory tract infections, Complete or near-c...	OMIM:618459
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Recurrent otitis media, Decreased circulating IgG level, Recurrent pn...	OMIM:613502
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Recurrent otitis media, Agammaglobulinemia, Recurrent pneumonia, Decr...	OMIM:613500
Spermatogenic Failure 38	Male infertility, Abnormal sperm head morphology, Abnormal axonemal organization of respiratory m...	OMIM:618433
Spermatogenic Failure 35	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f...	OMIM:618341
Spermatogenic Failure 32	Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia	OMIM:618115
Spermatogenic Failure 71	Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia	OMIM:619831
Spermatogenic Failure 57	Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat...	OMIM:619528
Spermatogenic Failure 50	Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia	OMIM:619145
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Recurrent infections, Splenomegaly, Decreased circulating total IgM	OMIM:606445
Spermatogenic Failure 20	Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella	OMIM:617593
Immunodeficiency 18	Defective T cell proliferation, Recurrent otitis media, Decreased circulating total IgM, Decrease...	OMIM:615615
Immunodeficiency 51	Chronic oral candidiasis, Recurrent otitis media, Recurrent Staphylococcus aureus infections, Rec...	OMIM:613953
B-Cell Expansion With Nfkb And T-Cell Anergy	Recurrent infections, Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decr...	OMIM:616452
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy, Impaired Ig class switch recombination, Complete or near-complete absence of spe...	OMIM:605258
Immunodeficiency 11B With Atopic Dermatitis	Severe cytomegalovirus infection, Pneumonia, Decreased circulating total IgM, Increased circulati...	OMIM:617638
Spermatogenic Failure 72	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre...	OMIM:619867
Spermatogenic Failure 34	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ...	OMIM:618153
Spermatogenic Failure 33	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:618152
Spermatogenic Failure 37	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:618429
Spermatogenic Failure 18	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:617576
Spermatogenic Failure 46	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:619095
Spermatogenic Failure 27	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ...	OMIM:617965
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy, Impaired Ig class switch recombination, Decreased circulating IgG level, Increas...	OMIM:608106
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Recurrent ear infections,...	OMIM:615513
Immunodeficiency 32B	BCGitis, Hepatomegaly, Anemia, Recurrent infections, Abnormal circulating IgG level, Bronchiectas...	OMIM:226990
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Recurrent infections, Decreased ci...	OMIM:300635
Spermatogenic Failure 43	Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm...	OMIM:618751
Spermatogenic Failure 19	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:617592
Spermatogenic Failure 82	Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility...	OMIM:620353
Spermatogenic Failure 49	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:619094
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, Recurrent otitis media, B lymphocytopenia, Recurrent bronchitis, Decr...	OMIM:612692
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated circulating hepatic transaminase concentration, Decreased proportion of CD3-positive T c...	ORPHA:331206
Immunodeficiency 61	Recurrent otitis media, Recurrent bacterial infections, Decreased circulating IgG4 level, Recurre...	OMIM:300310
Spermatogenic Failure, X-Linked, 5	Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit...	OMIM:301099
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Immunodeficiency 102	Severe varicella zoster infection, Recurrent sinusitis, Leukopenia, Increased proportion of CD8-p...	OMIM:301082
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Increased T cell count, Recurrent sinusitis, Increased circulating IgG level, Decreased circulati...	ORPHA:98813
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Immunodeficiency 105	Decreased circulating total IgM, Impaired lymphocyte transformation with phytohemagglutinin, Panc...	OMIM:619924
Immunodeficiency 112	BCGitis, Recurrent lower respiratory tract infections, Decreased proportion of gamma-delta T cell...	OMIM:620449
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Sclerosing cholangitis, Molluscum contagiosum, Recurrent sinusitis, Reduced natural killer cell c...	OMIM:243700
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Recurrent otitis media, Decreased circulating total IgM, Increased circulating interleukin 6 conc...	OMIM:618944
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Recurrent otitis media, Fluctuating splenomegaly, Lymphadenopathy, R...	OMIM:619220
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Crohn's disease, Optic neuritis, Splenomegaly, Psoriasiform dermatitis, Thyroiditis, Decreased ci...	ORPHA:436159
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Neonatal sepsis, Increased circulating antibody level, Lymphocytosis, Decreased proportion of CD3...	ORPHA:169154
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
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch...	OMIM:308230
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Postnatal growth retardation, Hepatomegaly, Decreased circulating total IgM, Recurrent urinary tr...	OMIM:620210
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve...	OMIM:606843
Immunodeficiency 97 With Autoinflammation	Increased circulating lactate dehydrogenase concentration, Granuloma, Splenomegaly, Lymphopenia, ...	OMIM:619802
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl...	OMIM:618987
Agammaglobulinemia 10, Autosomal Dominant	Agammaglobulinemia, Decreased circulating IgG level, Recurrent sinusitis, Transient neutropenia, ...	OMIM:619707
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Sepsis, Hepatomegaly, Lymphadenopathy, Recurrent lower respiratory t...	OMIM:616100
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Decreased circulating IgE, Pancytopenia, Recurrent infections, B lymphocytopenia, Increas...	OMIM:619824
Spermatogenic Failure 42	Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe...	OMIM:618745
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphocytosis, Skin rash, Recurrent bacterial skin infections, Decreased lymphocyte proliferation...	ORPHA:911
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper...	OMIM:620354
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Immunodeficiency 52	Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Persistent C...	OMIM:617514
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count, Recurrent ...	OMIM:613495
Immunodeficiency 25	Autoimmune hemolytic anemia, Recurrent candida infections, Increased circulating IgG level, Compl...	OMIM:610163
Spermatogenic Failure 78	Male infertility, Tapered sperm head, Microcephalic sperm head	OMIM:620170
Immunodeficiency 60 And Autoimmunity	Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni...	OMIM:618394
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Recurrent infection of the g...	OMIM:608184
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	BCGitis, Sepsis, Hepatomegaly, Panhypogammaglobulinemia, Abnormally low T cell receptor excision ...	OMIM:602450
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem...	OMIM:601859
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Short stature, Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia	OMIM:610798
Immunodeficiency 50	Recurrent urinary tract infections, Decreased circulating antibody level, Eczematoid dermatitis, ...	OMIM:300988
Spermatogenic Failure 5	Male infertility, Macrozoospermia, Multiflagellar spermatozoa	OMIM:243060
Spermatogenic Failure 86	Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru...	OMIM:620499
Immunodeficiency 14B, Autosomal Recessive	Thrombocytosis, B lymphocytopenia, Leukocytosis, Inflammation of the large intestine, Decreased c...	OMIM:619281
Isochromosomy Yp	Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia	ORPHA:98797
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Recurrent candida infections, Recurrent infections, B lymphocytopenia, Decreased circulating anti...	OMIM:614069
Immunodeficiency 48	Recurrent candida infections, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglu...	OMIM:269840
Selective Igm Deficiency	Decreased proportion of CD3-positive T cells, Crohn's disease, Recurrent vulvovaginal candidiasis...	ORPHA:331235
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Atopic dermatitis, Eosinophilic infiltration of the esophagus, E...	OMIM:620532
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Chronic oral candidiasis, Recurrent otitis media, Sterile abscess, Recurrent infections, Chronic ...	OMIM:618282
Immunodeficiency 8 With Lymphoproliferation	Chronic oral candidiasis, Recurrent otitis media, Recurrent lower respiratory tract infections, C...	OMIM:615401
Immunodeficiency 109 With Lymphoproliferation	Recurrent lower respiratory tract infections, Pancytopenia, Complete or near-complete absence of ...	OMIM:620282
Immunodeficiency 10	Autoimmune hemolytic anemia, Increased circulating IgG3 level, Sepsis, Recurrent otitis media, He...	OMIM:612783
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Recurrent otitis media, Lymphadenopathy, Increased circulating IgG level, Herpes simplex encephal...	OMIM:618982
Deleted in azoospermia	Azoospermia	OMIM:400003
Immunodeficiency 115 With Autoinflammation	Postnatal growth retardation, Intestinal lymphangiectasia, Anemia, Partial absence of specific an...	OMIM:620632
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Splenomegaly, Decreased lymphocyte apoptosis, Increased circulating ...	OMIM:603909
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Recurrent otitis media, Lymphadenopathy, Respiratory tract infection...	ORPHA:444463
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Roifman Syndrome	Postnatal growth retardation, Recurrent otitis media, Lymphadenopathy, Noncompaction cardiomyopat...	ORPHA:353298
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 87	Male infertility, Ruffled acrosome	OMIM:620500
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Recurrent lower respiratory tract infections, Short stature, Recurrent upper respiratory tract in...	OMIM:615139
Immunodeficiency 44	Abnormal circulating IgG level, Elevated circulating alanine aminotransferase concentration, Seve...	OMIM:616636
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Recurrent otitis media, Absent isohemagglutinin level, Recurrent lowe...	OMIM:613501
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level, Recurrent candida infections, Recurrent bacterial infections, T ...	OMIM:242870
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina...	OMIM:618534
Immunodeficiency, Common Variable, 8, With Autoimmunity	Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp...	OMIM:614700
Activated Pi3K-Delta Syndrome	Severe cytomegalovirus infection, Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Recurren...	ORPHA:397596
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Spermatogenic Failure 2	Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia	OMIM:108420
Young Syndrome	Obstructive azoospermia, Decreased fertility	ORPHA:3471
Immunodeficiency 104	Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Failure to thrive secondary to recurrent i...	OMIM:608971
Spermatogenic Failure 24	Short sperm flagella, Microcephalic sperm head, Tapered sperm head, Reduced sperm motility, Coile...	OMIM:617959
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Delayed puberty, Recurrent lower respiratory tract infections, Neutr...	OMIM:615952
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
Agammaglobulinemia, X-Linked	Decreased circulating IgE, T lymphocytopenia, Recurrent sinusitis, Lymph node hypoplasia, Bronchi...	OMIM:300755
Immunodeficiency 38 With Basal Ganglia Calcification	BCGitis, Lymphadenopathy, Severe viral infection, Recurrent viral infections, Recurrent mycobacte...	OMIM:616126
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m...	OMIM:202700
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Bronchitis, Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Re...	ORPHA:183675
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Skin rash, Sinusitis, Splenomegaly, Aplasia of the thymus, Lymphopenia, Decreased circulating IgG...	OMIM:102700
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent otitis media, Increased circulating IgE level, Eczematoid dermatitis, Keratitis, Bronch...	OMIM:618523
Bare Lymphocyte Syndrome, Type Ii	Neutropenia, Cholangitis, Recurrent lower respiratory tract infections, Panhypogammaglobulinemia,...	OMIM:209920
Endometriosis, Susceptibility To, 1	Dysmenorrhea, Decreased fertility, Endometriosis	OMIM:131200
Immunodeficiency, Common Variable, 7	Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Recurrent infectio...	OMIM:614699
Kimura Disease	Abnormal salivary gland morphology, Lymphadenopathy, Increased circulating IgE level, Eosinophili...	ORPHA:482
Immunodeficiency 36 With Lymphoproliferation	Recurrent lower respiratory tract infections, Chronic lymphatic leukemia, Persistent CMV viremia,...	OMIM:616005
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob...	ORPHA:399805
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent Staphylococcus aureus infections, Sclerosing cholangitis, Panhypogammaglobulinemia, Ski...	ORPHA:572
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Recurrent infections, Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell m...	OMIM:616911
Sudden Cardiac Failure, Infantile	Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro...	OMIM:617222
T-Cell Immunodeficiency With Thymic Aplasia	Chronic otitis media, Recurrent Staphylococcus aureus infections, T lymphocytopenia, Sinusitis, O...	ORPHA:83471
Immunodeficiency 70	Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Furuncl...	OMIM:618969
Immunodeficiency 85 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgE, Persistent EBV viremia, T lymphocytop...	OMIM:619510
Isochromosomy Yq	Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Gonada...	ORPHA:98798
Immunodeficiency 96	Defective T cell proliferation, Recurrent otitis media, Decreased circulating total IgM, Recurren...	OMIM:619774
Whim Syndrome 1	Decreased circulating antibody level, Decreased circulating IgG level, Recurrent upper respirator...	OMIM:193670
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Lymphoproliferative Syndrome 3	Lymphadenopathy, Recurrent infections, Decreased circulating antibody level, Partial absence of s...	OMIM:618261
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va...	OMIM:617765
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Dysgammaglobulinemia, Lymphocytosis, Splenomegaly, Neutropenia, Pancytopenia, Va...	OMIM:308240
Combined Immunodeficiency, X-Linked	Pneumocystis carinii pneumonia, Decreased proportion of CD8-positive T cells, Abnormal natural ki...	OMIM:312863
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Azoospermia, Oligozoospermia, Cryptorchidism	OMIM:620103
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit...	OMIM:611102
Pgm3-Cdg	Chronic otitis media, Decreased proportion of CD3-positive T cells, Reduced antigen-specific T ce...	ORPHA:443811
Ciliary Dyskinesia, Primary, 51	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:620438
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Pulmonary pneumatocele, Decreased circulating total IgM, Chronic mucocutaneous candidiasis, Incre...	OMIM:619752
Immunodeficiency 7	Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hepatomegaly, Lymp...	OMIM:615387
Lymphoproliferative Syndrome 2	Aplastic anemia, EBV encephalitis, Hepatomegaly, Sepsis, Hemophagocytosis, Lymphadenopathy, Pancy...	OMIM:615122
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Autoimmune hemolytic anemia, Recurrent otitis media, Increased circulating interleukin 6 concentr...	OMIM:620430
Congenital Bilateral Absence Of Vas Deferens	Absent vas deferens, Male infertility, Oligozoospermia, Obstructive azoospermia	ORPHA:48
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Short stature, Recurrent respiratory infections, Recurrent bacterial infe...	OMIM:616022
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Pulmonary insufficiency, Recurrent otitis media, B lymphocytopenia, Increased circulating IgE lev...	ORPHA:277
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Neutropenia, Anemia, Lymphadenopathy, Arthritis, Decreased FOXP3-expressing T cell count, Increas...	OMIM:304790
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Hepatosplenomegaly, Incr...	OMIM:615559
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology, Recurrent viral infections, Recurrent protozoan infections, Rec...	OMIM:308220
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating total IgM, Panniculitis, Optic neuritis, B lymphocytopenia, Decreased circu...	OMIM:301081
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level, Erythroid hypoplasia	OMIM:242880
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis, Recurrent bacterial infec...	OMIM:607624
Peripartum Cardiomyopathy	Left atrial enlargement, Hypertension, Sinus tachycardia, Heart murmur, Left ventricular hypertro...	ORPHA:563
Agammaglobulinemia 7, Autosomal Recessive	Abnormal T cell morphology, Panhypogammaglobulinemia, Recurrent infections, Agammaglobulinemia, E...	OMIM:615214
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Chronic oral candidiasis, Acute otitis media, Impaired lymphocyte transformation with phytohemagg...	ORPHA:35078
X-Linked Agammaglobulinemia	Chronic otitis media, Sepsis, Anemia, Arthritis, Skin rash, Abnormality of the tonsils, Abnormali...	ORPHA:47
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Abnormality of the...	OMIM:611926
Autosomal Agammaglobulinemia	Chronic otitis media, Sepsis, Recurrent infections, Arthritis, Skin rash, Agammaglobulinemia, Men...	ORPHA:33110
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level	OMIM:235900
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Abnormal pulmonary interstitial morphology, Anemia, Lymphadenopathy, Hemophagocytosis, Decreased ...	OMIM:613101
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Decreased circulating ant...	OMIM:619846
Spermatogenic Failure, X-Linked, 6	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Abnormal male ...	OMIM:301101
Immune-Mediated Necrotizing Myopathy	Myocarditis, Congestive heart failure, Abnormal pulmonary interstitial morphology, Myositis, Skin...	ORPHA:206569
Cystic Echinococcosis	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Increased cir...	ORPHA:400
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Decreased proportion of class-switched memory B cells, Crohn's di...	OMIM:619705
Aspergillosis	Hypersensitivity pneumonitis, Invasive pulmonary aspergillosis, Pleuritis, Increased circulating ...	ORPHA:1163
Monocyte Chemotactic Disorder	Chronic mucocutaneous candidiasis, Cutaneous anergy	OMIM:252250
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
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating IgG level, Severe short stature, Intrauterine growth retardation, Decreased...	ORPHA:2643
Immunodeficiency 56	Cirrhosis, Recurrent otitis media, Cholangitis, Panhypogammaglobulinemia, Pneumocystis jirovecii ...	OMIM:615207
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Hematochezia, Splenomegaly, Intrauterine growth retardation, Intraalveolar phospholipid accumulat...	OMIM:620565
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Erythroderma, Hypoplasia of the thymus,...	OMIM:603554
Roifman Syndrome	Postnatal growth retardation, Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Noncompactio...	OMIM:616651
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Persistent CM...	OMIM:618495
Immunodeficiency 27A	Anemia, Lymphadenopathy, Increased circulating IgG level, Salmonella osteomyelitis, Leukocytosis,...	OMIM:209950
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Severe varicella zoster infection, T lymphocytopenia, Recurrent sinusitis, Leukopenia, Lymphopeni...	OMIM:618986
Spermatogenic Failure 75	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619949
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Splenomegaly, Eosinophilia	OMIM:607685
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Delayed puberty, Panhypogammaglobulinemia, Sinusitis, Decreased response to growth hormone stimul...	OMIM:307200
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res...	OMIM:301106
Transcobalamin Deficiency	Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop...	ORPHA:859
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Corneal neovascularization, Hepatomegaly, Increased circulating IgG ...	OMIM:617388
Agammaglobulinemia 8A, Autosomal Dominant	Recurrent otitis media, Recurrent infections, B lymphocytopenia, Post-vaccination polio, Agammagl...	OMIM:616941
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased proportion of class-switched memory B cells, Bronchiol...	OMIM:614878
Immunodeficiency 23	Recurrent Staphylococcus aureus infections, Persistent EBV viremia, Increased circulating IgG lev...	OMIM:615816
Cinca Syndrome	Anemia, Lymphadenopathy, Arthritis, Skin rash, Leukocytosis, Growth delay, Hepatosplenomegaly, Eo...	OMIM:607115
Immunodeficiency, Common Variable, 10	Decreased response to growth hormone stimulation test, Recurrent otitis media, Recurrent oral her...	OMIM:615577
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level	OMIM:609529
Mannose-Binding Lectin Deficiency	Recurrent Klebsiella infections, Disseminated cryptosporidium infection, Recurrent meningococcal ...	OMIM:614372
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, Common Variable, 6	Enlarged kidney, Hepatomegaly, Recurrent respiratory infections, Complete or near-complete absenc...	OMIM:613496
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased specific antibody response to polysaccharide vaccine, Decreased specific anti-polysacch...	ORPHA:70593
Rheumatic Fever	Myocarditis, Abnormal aortic valve morphology, Recurrent pharyngitis, Arthritis, Abnormal heart v...	ORPHA:3099
Systemic Capillary Leak Syndrome	Myocarditis, Pulmonary edema, Pancreatitis, Pleural effusion, Leukocytosis, Hypotension, Pericard...	ORPHA:188
Immunodeficiency 95	Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections, Recurrent v...	OMIM:619773
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Lymphadenopathy, Lymphocytosis, Thyroiditis, Skin rash, Interstitial pneumonitis, Ca...	ORPHA:139402
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper...	ORPHA:399808
Spermatogenic Failure 85	Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi...	OMIM:620490
Adult-Onset Still Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Pleuritis, Arthritis, Skin rash, Leukocytosis...	ORPHA:829
Immunodeficiency 84	Perianal abscess, Persistent EBV viremia, B lymphocytopenia, Splenomegaly, Recurrent bacterial in...	OMIM:619437
Immunodeficiency 22	Chronic oral candidiasis, Panniculitis, Anemia, Recurrent lower respiratory tract infections, Dec...	OMIM:615758
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Male hypogonadism, Azoospermia	OMIM:241000
Immunodeficiency 9	BCGitis, Recurrent aphthous stomatitis, Abnormal natural killer cell count, Stomatitis, Recurrent...	OMIM:612782
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Atopic dermatitis, Short stature, Recurrent viral infections, He...	OMIM:618999
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Chronic oral candidiasis, Recurrent aphthous stomatitis, Decreased proportion of CD3-positive T c...	ORPHA:275
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Increased circulating antibody level, Plasmacytosis, Lymphopenia, Pn...	OMIM:247800
Legionnaires Disease	Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Recurrent pharyngitis, Hypotension, Bone ma...	ORPHA:549
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Netherton Syndrome	Sepsis, Hypereosinophilia, Increased circulating IgE level, Chronic rhinitis, Eczematoid dermatit...	OMIM:256500
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Severe varicella zoster infection, T lymphocytopenia, Enlarged tonsils, Psoriasiform dermatitis, ...	OMIM:606367
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Recurrent aphthous stomatitis, Acute myeloid leukemia, Periodontitis, Recurrent ...	ORPHA:486
Bone Marrow Failure Syndrome 4	Anemia, Rhizomelia, Decreased circulating antibody level, Eczematoid dermatitis, Short stature, B...	OMIM:618116
Immunodeficiency 12	Cheilitis, Absent isohemagglutinin level, Recurrent aphthous stomatitis, Recurrent lower respirat...	OMIM:615468
American Trypanosomiasis	Myocarditis, Congestive heart failure, Hepatomegaly, Lymphadenopathy, Skin rash, Cardiomyopathy, ...	ORPHA:3386
Immunodeficiency 75 With Lymphoproliferation	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Persistent EBV viremia, H...	OMIM:619126
Immunodeficiency 33	Increased circulating IgA level, Decreased circulating total IgM, Pneumocystis jirovecii pneumoni...	OMIM:300636
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism	ORPHA:3000
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Recurrent Klebsiella infections, Recurrent candida infections, BCGosis, Salmonella osteomyelitis,...	ORPHA:319552
Immunodeficiency 15B	Chronic oral candidiasis, Recurrent infections, Decreased circulating antibody level, Agammaglobu...	OMIM:615592
Q Fever	Pericarditis, Splenomegaly, Cholecystitis, Myocarditis, Maculopapular exanthema, Vasculitis, Hepa...	ORPHA:781
Tularemia	Pneumonia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Inflam...	ORPHA:3392
Candidiasis, Familial, 1	Chronic mucocutaneous candidiasis, Recurrent viral infections, Cutaneous anergy	OMIM:114580
Complement Component 4B Deficiency	Recurrent otitis media, Chronic active hepatitis, Recurrent sinusitis, Recurrent pneumonia, Decre...	OMIM:614379
Combined Immunodeficiency Due To Dock8 Deficiency	Chronic otitis media, Recurrent candida infections, B lymphocytopenia, Increased circulating IgE ...	ORPHA:217390
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, Increased circulating IgG level, B lymphocytopenia, Skin rash, Increased circula...	OMIM:618048
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility, Spermatocele	OMIM:301060
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Increased circulating antibody level, Recurrent respiratory infections, Pancytopeni...	OMIM:614470
Immunodeficiency 46	Chronic oral candidiasis, Sepsis, Anemia, Decreased circulating antibody level, Intermittent thro...	OMIM:616740
Autoimmune Lymphoproliferative Syndrome	Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity...	ORPHA:3261
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula...	OMIM:617241
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level, Ascites, Short sta...	ORPHA:381
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Growth delay,...	ORPHA:169079
Complement Component C1S Deficiency	Hashimoto thyroiditis, Hepatitis, Abnormality of complement system	OMIM:613783
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 23 concentration, Pleural thickening, Hypochromic microcytic anem...	OMIM:619632
Immunodeficiency, Common Variable, 11	Decreased proportion of class-switched memory B cells, Crohn's disease, Increased circulating IgE...	OMIM:615767
Peeling Skin Syndrome 1	Erythroderma, Eosinophilia, Increased circulating IgE level, Short stature	OMIM:270300
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Recurrent bacterial in...	OMIM:613179
Immunodeficiency 11A	Pneumocystis jirovecii pneumonia, Decreased circulating antibody level, Agammaglobulinemia, Reduc...	OMIM:615206
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Jaundice, Cirrhosis, Elevated circulating hepatic transaminase conce...	ORPHA:2137
Loeffler Endocarditis	Left atrial enlargement, Myocardial eosinophilic infiltration, Abnormal morphology of the chordae...	ORPHA:75566
Immunodeficiency 35	Increased circulating IgE level, Recurrent viral infections, Recurrent mycobacterial infections, ...	OMIM:611521
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Spermatogenic Failure 6	Male infertility, Globozoospermia, Decreased acrosin in sperm head	OMIM:102530
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Recurrent infections, Decreased circulating antibody level, Recurren...	OMIM:616576
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis, Allergic rhinitis, Conjunctivitis	ORPHA:26137
Adult Idiopathic Neutropenia	Recurrent aphthous stomatitis, Recurrent infections, Increased circulating IgM level, Helicobacte...	ORPHA:2688
Mixed Connective Tissue Disease	Myocarditis, Abnormal pulmonary interstitial morphology, Hepatomegaly, Mediastinal lymphadenopath...	ORPHA:809
Scrub Typhus	Myocarditis, Lymphadenopathy, Skin rash, Hypotension, Splenomegaly, Anterior uveitis, Infectious ...	ORPHA:83317
Reticular Dysgenesis	Chronic otitis media, Sepsis, Anemia, Skin rash, Decreased circulating antibody level, Leukopenia...	ORPHA:33355
Immunodeficiency 92	Hepatomegaly, Abnormal B cell proliferation, Cholangitis, Sclerosing cholangitis, Decreased propo...	OMIM:619652
Immunodeficiency 47	Elevated circulating hepatic transaminase concentration, Cholestasis, Prolonged neonatal jaundice...	OMIM:300972
Eosinophilic Granulomatosis With Polyangiitis	Myocarditis, Congestive heart failure, Myocardial infarction, Myositis, Arthritis, Skin rash, Hyp...	ORPHA:183
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat...	ORPHA:2585
Omenn Syndrome	Sepsis, Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Abnormal lymphocyte morphology, Eryth...	ORPHA:39041
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Arthritis, Abnormal pleura morphology, Lymphopenia	ORPHA:2582
Felty Syndrome	Chronic otitis media, Sinusitis, Pericarditis, Bone marrow hypocellularity, Splenomegaly, Neutrop...	ORPHA:47612
Eosinophilia, Familial	Anemia, Recurrent bronchitis, Leukocytosis, Thrombocytopenia, Eosinophilia	OMIM:131400
Hereditary Folate Malabsorption	Cheilitis, Pancytopenia, Recurrent urinary tract infections, Megaloblastic anemia, Decreased circ...	ORPHA:90045
Specific Granule Deficiency 1	Recurrent otitis media, Abnormal neutrophil count, Low neutrophil alkaline phosphatase, Hyposegme...	OMIM:245480
Reticular Dysgenesis	Sepsis, Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T...	OMIM:267500
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Alpha-Heavy Chain Disease	Dysgammaglobulinemia, Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Growth delay, Splenomegaly	ORPHA:100025
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Complement Component 3 Deficiency, Autosomal Recessive	Decreased circulating complement C3 concentration, Recurrent tonsillitis, Recurrent pneumonia, Me...	OMIM:613779
Whipple Disease	Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Anemia, Mediastinal lymphadenopathy, Myoc...	ORPHA:3452
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Vasculitis, Skin rash, Arthritis, Leukocytosis, Increased ...	ORPHA:37748
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hepatomegaly, Recu...	OMIM:301078
Generalized Eruptive Histiocytosis	Maculopapular exanthema, Elevated total serum tryptase, Hypereosinophilia, Histiocytosis, Leukemia	ORPHA:157991
Immunodeficiency, Common Variable, 13	Pancytopenia, B lymphocytopenia, Decreased circulating antibody level, Acute lymphoblastic leukem...	OMIM:616873
Odontomatosis-Aortae Esophagus Stenosis Syndrome	Myocarditis	ORPHA:2724
Wiskott-Aldrich Syndrome	Hematemesis, Small vessel vasculitis, Impaired lymphocyte transformation with phytohemagglutinin,...	OMIM:301000
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Klebsiella infections, Recurrent E. coli infections, Hepatomegaly, Liver abscess, Lymph...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Klebsiella infections, Recurrent E. coli infections, Hepatomegaly, Liver abscess, Lymph...	OMIM:233710
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Macrophage Activation Syndrome	Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell co...	ORPHA:158061
Brucellosis	Bronchitis, Pericarditis, Leukopenia, Splenomegaly, Anterior uveitis, Myocarditis, Transient isch...	ORPHA:1304
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Absent periph...	OMIM:600802
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia	OMIM:233650
Melioidosis	Lung abscess, Unusual skin infection, Sepsis, Prostatitis, Liver abscess, Acute infectious pneumo...	ORPHA:31202
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Muscle fiber necrosis,...	OMIM:253700
Cyclic Neutropenia	Perianal abscess, Sepsis, Lymphadenopathy, Recurrent tonsillitis, Periodontitis, Decreased eosino...	ORPHA:2686
Rat-Bite Fever	Morbilliform rash, Myocarditis, Pancreatitis, Anemia, Arthritis, Skin rash, Parotitis, Tendonitis...	ORPHA:31205
Myelolymphatic Insufficiency	Recurrent viral infections, Leukopenia, Recurrent bacterial infections, Hyposegmentation of neutr...	OMIM:310350
Immunodeficiency 86	Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst	OMIM:619549
Agammaglobulinemia 1, Autosomal Recessive	Recurrent otitis media, Panhypogammaglobulinemia, Recurrent bacterial infections, B lymphocytopen...	OMIM:601495
Immunodeficiency 37	Recurrent infections, Decreased circulating antibody level, Decreased proportion of central memor...	OMIM:616098
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Gastritis, B lymphocytopenia, Skin rash, Decreased circulating antibody level, ...	OMIM:618108
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Klebsiella infections, Recurrent E. coli infections, Hepatomegaly, Liver abscess, Lymph...	OMIM:233690
Complement Component 6 Deficiency	Recurrent meningococcal disease, Reduced circulating CH50 activity, Decreased circulating complem...	OMIM:612446
Antisynthetase Syndrome	Myocarditis, Abnormal pulmonary interstitial morphology, Aortic regurgitation, Myositis, Arthriti...	ORPHA:81
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Complement Component 7 Deficiency	Recurrent meningococcal disease, Decreased circulating complement C7 concentration, Recurrent Nei...	OMIM:610102
Congenital Enterovirus Infection	Myocarditis, Anemia, Abnormal macrophage morphology, Skin rash, Cholestasis, Leukocytosis, Pleura...	ORPHA:292
Spermatogenic Failure 44	Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Recurrent bac...	ORPHA:70592
Isolated Agammaglobulinemia	Pneumonia, Sepsis, Anemia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Abnormality...	ORPHA:229717
Idiopathic Chronic Eosinophilic Pneumonia	Hypersensitivity pneumonitis, Atelectasis, Increased circulating IgE level, Pleural effusion, Leu...	ORPHA:2902
Congenital Disorder Of Glycosylation, Type Iir	Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce...	OMIM:301045
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Sepsis, Recurrent aphthous stomatitis, Recurrent lower respiratory t...	OMIM:614868
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent abscess formation, Elevated circulating hepatic transaminase concentration, Panhypogamm...	ORPHA:79124
Morbid Obesity And Spermatogenic Failure	Infertility, Oligozoospermia, Azoospermia	OMIM:615703
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Increased circulating antibody level, Recurrent infections...	OMIM:615285
Riddle Syndrome	Abnormal pulmonary interstitial morphology, Decreased circulating total IgM, Arthritis, Bronchiti...	ORPHA:420741
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated circulating hepatic transaminase concentration, Splenomegaly, Psoriasiform dermatitis, N...	ORPHA:37042
Immunodeficiency 116	Recurrent viral infections, Bronchiectasis, Recurrent respiratory infections, Absence of CD8-posi...	OMIM:608957
Igg4-Related Aortitis	Increased circulating antibody level, Increased circulating IgE level, Reduced circulating comple...	ORPHA:449400
T-Cell Immunodeficiency With Thymic Aplasia	Reduced delayed hypersensitivity, Pyoderma, Emphysema, Abnormally low T cell receptor excision ci...	OMIM:242700
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Scapular winging, Aspiration pneumonia, Angulated muscle fibers, Weakness of facial musculature, ...	OMIM:619477
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ...	ORPHA:90362
Bloom Syndrome	Cheilitis, Bronchitis, Skin rash, Severe varicella zoster infection, Intrauterine growth retardat...	ORPHA:125
Immunodeficiency 114, Folate-Responsive	Postnatal growth retardation, Hepatomegaly, Recurrent lower respiratory tract infections, Megalob...	OMIM:620603
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocyte transfo...	OMIM:153600
Immunodeficiency 82 With Systemic Inflammation	Recurrent abscess formation, Crohn's disease, Skin rash, Bronchitis, T lymphocytopenia, Splenomeg...	OMIM:619381
Immunodeficiency 67	Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n...	OMIM:607676
Ciliary Dyskinesia, Primary, 50	Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit...	OMIM:620356
Cardiomyopathy, Dilated, 1R	Congestive heart failure, Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Ventricular arrh...	OMIM:613424
Bacterial Toxic-Shock Syndrome	Skin rash, Sinusitis, Myocarditis, Increased circulating myelocyte count, Septic arthritis, Pneum...	ORPHA:36234
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Thromboc...	OMIM:243150
Microsporidiosis	Bronchitis, Cachexia, Sinusitis, Biliary tract abnormality, Myocarditis, Cholangitis, Thyroiditis...	ORPHA:2552
Igg4-Related Kidney Disease	Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Increased circul...	ORPHA:449395
Coccidioidomycosis	Skin rash, Cerebral ischemia, Granuloma, Pericarditis, Unusual CNS infection, Erythema nodosum, M...	ORPHA:228123
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Recurrent otitis media, Abnormal B cell morphology, Recurrent infections, Decreased circulating a...	OMIM:616910
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level, Intraalveolar phospholipid accumulation, Leukocytosis, Sple...	OMIM:618042
Leukocyte Adhesion Deficiency, Type Iii	Sepsis, Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Epistaxis, Hepatosple...	OMIM:612840
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:616950
Catastrophic Antiphospholipid Syndrome	Myocarditis, Myocardial infarction, Angina pectoris, Arthritis, Abnormal heart valve morphology, ...	ORPHA:464343
Immunodeficiency 88	BCGosis, Eosinophilia	OMIM:619630
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Chronic otitis media, Atelectasis, Recurrent infections, Skin rash, Increased circulating IgE lev...	ORPHA:2314
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent lower respiratory tract infections, Decreased circulating antibody level, Short stature...	OMIM:617744
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R...	OMIM:614493
Iga Pemphigus	Neutrophilic infiltration of the skin, Increased circulating IgA level, Monoclonal elevation of c...	ORPHA:555905
Immunoglobulin A Deficiency 1	Recurrent infections, Recurrent respiratory infections, Decreased circulating IgA level, Recurren...	OMIM:137100
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Recurrent infections, Me...	OMIM:617780
Spinocerebellar Ataxia 32	Infertility, Testicular atrophy, Azoospermia	OMIM:613909
Alveolar Echinococcosis	Decreased liver function, Jaundice, Anemia, Cholangitis, Liver abscess, Increased circulating ant...	ORPHA:284
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Splenomegaly, Abnorm...	ORPHA:100024
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Absent vas deferens, Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Absent vas deferens, Male infertility, Azoospermia	OMIM:277180
Hepatitis Delta	Cirrhosis, Jaundice, Fulminant hepatitis, Hepatocellular carcinoma, Elevated circulating alanine ...	ORPHA:402823
Common Variable Immunodeficiency	Chronic otitis media, Emphysema, Lymphadenopathy, Recurrent respiratory infections, Elevated circ...	ORPHA:1572
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Disproportionate short stature, Recurrent infections, Decreased circulating antibody level, Lymph...	OMIM:617425
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Monocytosis, Neutropenia	OMIM:613107
Congenital Disorder Of Glycosylation, Type Iic	Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Bronchiolitis, Short sta...	OMIM:266265
Complement Factor D Deficiency	Partial functional complement factor D deficiency, Recurrent bacterial infections	OMIM:613912
Shigellosis	Myocarditis, Acute colitis, Arthritis, Splenic abscess, Cholestasis, Leukocytosis, Hypovolemic sh...	ORPHA:810
Complement Component 8 Deficiency, Type Ii	Meningitis, Decreased circulating complement C8 concentration, Recurrent Neisserial infections	OMIM:613789
Granulomatous Disease, Chronic, X-Linked	Recurrent Staphylococcus aureus infections, Discoid lupus rash, Recurrent bacterial skin infectio...	OMIM:306400
Isolated Follicle Stimulating Hormone Deficiency	Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular atrophy, Female hyp...	ORPHA:52901
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Growth delay, Recurrent pneumonia, Splenom...	OMIM:619164
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level	OMIM:300861
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Eczematoid dermatitis, Thrombocytopenia, Agammaglobulinemia, Recurrent bac...	OMIM:619693
Spinocerebellar Ataxia Type 32	Male infertility, Testicular atrophy, Azoospermia	ORPHA:276183
Immunodeficiency 43	Lung abscess, Abnormal circulating IgM level, B lymphocytopenia, Decreased circulating IgG level,...	OMIM:241600
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Anemia, Growth delay, Decreased circulating IgG level, Recurrent pneumonia, Splenom...	OMIM:612301
Graft Versus Host Disease	Gastrointestinal inflammation, Jaundice, Elevated circulating hepatic transaminase concentration,...	ORPHA:39812
Immunodeficiency 40	Chronic oral candidiasis, Recurrent otitis media, Macrovesicular hepatic steatosis, Hepatomegaly,...	OMIM:616433
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
Complement Factor B Deficiency	Recurrent meningococcal disease, Decreased circulating complement factor B concentration, Periton...	OMIM:615561
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Prostatitis, Abnormal salivary gland morphology, Cholangitis, Abnormal ...	ORPHA:449432
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Chronic oral candidiasis, Decreased circulating total IgG, Decreased lymphocyte proliferation in ...	ORPHA:221139
Whim Syndrome	Sepsis, Severe periodontitis, Atelectasis, Parotitis, Decreased circulating antibody level, Lymph...	ORPHA:51636
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Trimethylaminuria	Anemia, Hypertension, Recurrent pneumonia, Splenomegaly, Tachycardia, Neutropenia	OMIM:602079
Sneddon Syndrome	Ischemic stroke, Hypertension, Cerebral hemorrhage, Lymphopenia, Decreased circulating total IgM	OMIM:182410
Immunodeficiency 27B	Salmonella osteomyelitis, Recurrent mycobacterium avium complex infections, Recurrent mycobacteri...	OMIM:615978
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Portal hypertension, Short stature, Hashimoto thyroiditis, Splenomega...	OMIM:613385
Ciliary Dyskinesia, Primary, 39	Recurrent otitis media, Dextrocardia, Recurrent lower respiratory tract infections, Bronchiectasi...	OMIM:618254
Good Syndrome	Mediastinal lymphadenopathy, Anemia, Abnormal leukocyte morphology, Recurrent urinary tract infec...	ORPHA:169105
Combined Immunodeficiency Due To Crac Channel Dysfunction	Chronic otitis media, Sepsis, Hepatomegaly, Lymphadenopathy, Recurrent viral infections, Thromboc...	ORPHA:169090
Immunodeficiency 15A	Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr...	OMIM:618204
Autoinflammatory Disease, Systemic, With Vasculitis	Small vessel vasculitis, Cholestasis, Increased T cell count, Splenomegaly, Cardiomegaly, Intraut...	OMIM:620376
Postinfectious Vasculitis	Recurrent Staphylococcus aureus infections, Increased circulating antibody level, Hypertension, C...	ORPHA:48435
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Crohn's disease, Onychomycosis, Granuloma, Splenomegaly, Lymphopenia, Recurrent...	OMIM:618935
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Tachycardia, Chroni...	ORPHA:98849
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Decreased liver function, Elevated circulating hepatic transaminase co...	ORPHA:540
Eosinophilic Fasciitis	Myositis, Arthritis, Abnormal eosinophil morphology, Eosinophilia, Fasciitis	ORPHA:3165
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, Atopic dermatitis, T lymphocytopenia, Recur...	OMIM:618806
Boutonneuse Fever	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Increased circulating I...	ORPHA:83313
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating alkaline phosph...	OMIM:613812
Acute Generalized Exanthematous Pustulosis	Cheilitis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Cholestasis,...	ORPHA:293173
Ficolin 3 Deficiency	Recurrent abscess formation, Necrotizing enterocolitis, Recurrent Staphylococcus aureus infection...	OMIM:613860
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Anemia, Lymphadenopathy	ORPHA:158014
Congenital Syphilis	Myocarditis, Pancreatitis, Anemia, Lymphadenopathy, Synovitis, Prolonged neonatal jaundice, Rhini...	ORPHA:499009
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomerulonephritis, De...	OMIM:617006
Ring Chromosome Y Syndrome	Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male infertil...	ORPHA:261529
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neonatal death, Neutropenia	OMIM:257100
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Sepsis, Melena, Increased circulating antibody level, Acute pancreat...	ORPHA:319218
Zygomycosis	Hematemesis, Gastrointestinal hemorrhage, Acute infectious pneumonia, Sinusitis, Pericarditis, Pu...	ORPHA:73263
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level	ORPHA:99965
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Lymphadenopathy, Decreased circulating antibody level, Short stature, Recurrent pneumonia, Hepato...	OMIM:619750
Immunodeficiency 34	BCGosis, Pulmonary tuberculosis, Recurrent mycobacterial infections	OMIM:300645
Acute Myelomonocytic Leukemia	Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis	ORPHA:517
Eosinophilopenia	Allergic rhinitis, Decreased eosinophil count	OMIM:131430
Hepatocellular Carcinoma	Subacute progressive viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis	OMIM:114550
Ciliary Dyskinesia, Primary, 29	Bronchiectasis, Recurrent respiratory infections, Decreased circulating antibody level, Atelectasis	OMIM:615872
Ataxia-Telangiectasia	Delayed puberty, Elevated circulating hepatic transaminase concentration, Recurrent respiratory i...	ORPHA:100
Dyskeratosis Congenita, Autosomal Recessive 5	Postnatal growth retardation, Decreased circulating antibody level, Bone marrow hypocellularity, ...	OMIM:615190
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Recurrent aphthous stomatitis, Lymphadenopathy, Recurrent infections, B...	OMIM:150550
Wilson Disease	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio...	ORPHA:905
Igg4-Related Pachymeningitis	Pancreatitis, Parotitis, Lymphadenitis, Reduced circulating complement concentration, Sinusitis, ...	ORPHA:449427
Ciliary Dyskinesia, Primary, 9	Chronic otitis media, Situs inversus totalis, Pneumonia, Recurrent otitis media, Chronic rhinitis...	OMIM:612444
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Retinal ...	ORPHA:294
Primary Biliary Cholangitis	Gastrointestinal inflammation, Cirrhosis, Jaundice, Hepatomegaly, Orthostatic hypotension, Elevat...	ORPHA:186
Immunodeficiency 58	Chronic otitis media, Seborrheic dermatitis, Decreased specific antibody response to vaccination,...	OMIM:618131
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Delayed puberty, Postnatal growth retardation, Recurrent infections, Thyroiditis, Increased circu...	OMIM:618985
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Abnormal hem...	ORPHA:848
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Circulating immune comple...	ORPHA:91138
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Listeriosis	Myocarditis, Congestive heart failure, Jaundice, Liver abscess, Pyelonephritis, Arteritis, Spleni...	ORPHA:533
Bloom Syndrome	Postnatal growth retardation, Malar rash, Cryptorchidism, Growth delay, Facial telangiectasia in ...	OMIM:210900
Autoimmune Polyendocrinopathy Type 4	Aplasia/Hypoplasia of the spleen, Abnormal pulmonary interstitial morphology, Non-caseating epith...	ORPHA:227990
Young Syndrome	Azoospermia	OMIM:279000
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Delayed puberty, Lymphopenia, Recurrent Aspergillus infections, Thyroiditis, Pulmonary arterial h...	ORPHA:391487
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci	OMIM:233670
Immunodeficiency 42	Chronic oral candidiasis, Hepatomegaly, Recurrent aphthous stomatitis, BCGosis, Hypoplasia of the...	OMIM:616622
Simple Cryoglobulinemia	Congestive heart failure, Gastrointestinal hemorrhage, Monoclonal elevation of IgG, Chronic lymph...	ORPHA:91139
Relapsing Polychondritis	Myocarditis, Abnormal endocardium morphology, Large vessel vasculitis, Abnormal aortic valve morp...	ORPHA:728
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Atrial Fibrillation, Familial, 10	Left atrial enlargement, Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent a...	OMIM:614022
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Cholangit...	ORPHA:3260
Aicardi-Goutieres Syndrome 7	Hematemesis, Increased circulating antibody level, Skin rash, Hypertension, Chilblains, Hematoche...	OMIM:615846
Kikuchi-Fujimoto Disease	Myocarditis, Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Lymphadenopathy, A...	ORPHA:50918
Hypocomplementemic Urticarial Vasculitis	Small vessel vasculitis, Hepatomegaly, Emphysema, Lymphadenopathy, Inflammatory abnormality of th...	ORPHA:36412
Angiostrongyliasis	Increased circulating IgG level, Increased circulating IgA level, Increased circulating IgM level...	ORPHA:74
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
Idiopathic Achalasia	Bronchitis, Recurrent aspiration pneumonia, Weight loss	ORPHA:930
Ciliary Dyskinesia, Primary, 25	Situs inversus totalis, Recurrent otitis media, Dextrocardia, Chronic rhinitis, Recurrent pneumon...	OMIM:615482
Autoimmune Polyendocrinopathy Type 3	Aplasia/Hypoplasia of the spleen, Abnormal pulmonary interstitial morphology, Non-caseating epith...	ORPHA:227982
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,...	OMIM:601493
Systemic Sclerosis	Myocarditis, Abnormal pulmonary interstitial morphology, Nail bed telangiectasia, Arthritis, Gast...	ORPHA:90291
Idiopathic/Heritable Pulmonary Arterial Hypertension	Hepatomegaly, Abnormal cardiovascular system physiology, Elevated jugular venous pressure, Pulmon...	ORPHA:422
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro...	OMIM:612158
Lujo Hemorrhagic Fever	Myocarditis, Atelectasis, Bradycardia, Fulminant hepatitis, Skin rash, Leukocytosis, Hypotension,...	ORPHA:319213
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Anemia, Elevated circulating hepatic transaminase concentration, Accessory spleen, Recurrent infe...	OMIM:620005
Neonatal Alloimmune Neutropenia	Sepsis, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Pneumonia, Meningitis, Se...	ORPHA:464370
Lymphatic Filariasis	Lymphangiectasis, Lymphadenopathy, Circulating immune complexes, Knee osteoarthritis, Abnormality...	ORPHA:2035
Proteasome-Associated Autoinflammatory Syndrome 5	Skin rash, Hepatomegaly, Splenomegaly	OMIM:619175
Kawasaki Disease	Myocarditis, Congestive heart failure, Cervical lymphadenopathy, Jaundice, Cheilitis, Recurrent p...	ORPHA:2331
Immunodeficiency 59 And Hypoglycemia	Sepsis, Hepatomegaly, Recurrent aphthous stomatitis, Arteritis, Decreased proportion of class-swi...	OMIM:233600
Primary Sclerosing Cholangitis	Neoplasm of the gallbladder, Elevated circulating hepatic transaminase concentration, Spider hema...	ORPHA:171
Stormorken Syndrome	Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Short ...	OMIM:185070
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Intrahepatic cholestasis, Giant cell hepatitis, Jaundice, Hepatomegaly, Elevated circu...	OMIM:607765
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P...	ORPHA:507
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Skin rash, Elevated tota...	ORPHA:98848
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Malar rash, Myositis, Skin rash, Increased circulating IgG level, Increased circulating I...	OMIM:615934
Primary Sjögren Syndrome	Increased circulating antibody level, Normochromic anemia, Optic neuritis, Bronchitis, Biliary ci...	ORPHA:289390
Immunodeficiency 69	BCGitis, Anemia, Hemophagocytosis, Pancytopenia, BCGosis, Skin rash, Leukocytosis, Hepatosplenome...	OMIM:618963
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	T lymphocytopenia, Sinusitis, Bronchiectasis, Increased circulating IgM level, Short stature, Pne...	OMIM:242860
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Polyarteritis Nodosa	Pleuritis, Hypertension, Cardiomyopathy, Pericarditis, Abnormal lung morphology, Raynaud phenomen...	ORPHA:767
Scedosporiosis	Unusual skin infection, Sepsis, Pulmonary tuberculosis, Pleuritis, Opportunistic fungal infection...	ORPHA:449280
C1Q Deficiency 2	Sepsis, Recurrent otitis media, Anemia, Atelectasis, Recurrent lower respiratory tract infections...	OMIM:620321
Immunodeficiency 30	Recurrent infections, Recurrent mycobacterial infections	OMIM:614891
Yao Syndrome	Pleuritis, Arthritis, Skin rash, Ventricular hypertrophy, Pericarditis, Inflammatory abnormality ...	OMIM:617321
Dietary Iron Overload Disease	Congestive heart failure, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, H...	ORPHA:139507
Hermansky-Pudlak Syndrome 2	Recurrent abscess formation, Chronic oral candidiasis, Absent platelet dense granules, Recurrent ...	OMIM:608233
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Arthritis, Skin rash, Pleural effusion, Pericarditis, Splenomegaly...	ORPHA:85414
Papa Syndrome	Lymphadenopathy, Increased circulating antibody level, Myositis, Arthritis, Crohn's disease, Pust...	ORPHA:69126
Igg4-Related Ophthalmic Disease	Enlarged lacrimal glands, Prostatitis, Pancreatitis, Cholangitis, Lymphadenopathy, Abnormality of...	ORPHA:449563
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, El...	ORPHA:562639
Mogs-Cdg	Pulmonary edema, Hepatomegaly, Decreased circulating antibody level, Decreased circulating IgG le...	ORPHA:79330
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula...	OMIM:618920
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Myositis, Eosinophilia	OMIM:253600
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Panniculitis, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase co...	OMIM:617591
Spermatogenic Failure 28	Decreased testicular size, Male infertility, Non-obstructive azoospermia	OMIM:618086
Coronary Arterial Fistula	Atrial septal defect, Congestive heart failure, Cardiomegaly, Tachycardia, Angina pectoris, Bacte...	ORPHA:2041
Transcobalamin Ii Deficiency	Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, D...	OMIM:275350
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Elevated circulating hepatic transaminase concentration, Panacinar emphysema, Hepatoce...	OMIM:613490
Eosinophilic Gastroenteritis	Anemia, Leukocytosis, Atopic dermatitis, Ascites, Hematochezia, Eosinophilia, Allergic rhinitis	ORPHA:2070
Ciliary Dyskinesia, Primary, 23	Situs inversus totalis, Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, Recurrent ...	OMIM:615451
Avian Influenza	Pneumothorax, Congestive heart failure, Sepsis, Elevated circulating hepatic transaminase concent...	ORPHA:454836
Polymyositis	Abnormal atrioventricular conduction, Congestive heart failure, Abnormal pulmonary interstitial m...	ORPHA:732
Rigid Spine Syndrome	Elbow flexion contracture, Hamstring contractures, Hip contracture, Cardiac conduction abnormalit...	ORPHA:97244
Systemic Lupus Erythematosus	Pleuritis, Malar rash, Arthritis, Pericarditis, Nephritis, Thrombocytopenia, Leukopenia, Hemolyti...	OMIM:152700
Dominant Beta-Thalassemia	Delayed puberty, Splenomegaly, Decreased mean corpuscular volume, Chronic infection, High-output ...	ORPHA:231226
Niemann-Pick Disease, Type B	Abnormal pulmonary interstitial morphology, Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-ma...	OMIM:607616
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Jaundice, Panniculitis, Hepatomegaly, Emphysema, Bronchitis, Hepatocellular carcinoma,...	ORPHA:60
Prolidase Deficiency	Diffuse telangiectasia, Hepatomegaly, Anemia, Increased circulating antibody level, Recurrent inf...	OMIM:170100
Congenital Bile Acid Synthesis Defect Type 2	Postnatal growth retardation, Giant cell hepatitis, Jaundice, Hepatomegaly, Elevated circulating ...	ORPHA:79303
Dyskeratosis Congenita, Digenic	Anemia, Recurrent infections, Decreased testicular size, Decreased circulating IgG level, Short s...	OMIM:620040
Pneumocystosis	Chronic oral candidiasis, Abnormal neutrophil count, Increased circulating antibody level, Acute ...	ORPHA:723
Hemophagocytic Lymphohistiocytosis, Familial, 4	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Skin rash, Thrombocytopenia, S...	OMIM:603552
Crimean-Congo Hemorrhagic Fever	Hematemesis, Bradycardia, Hypertension, Leukopenia, Splenomegaly, Epistaxis, Erythema nodosum, Di...	ORPHA:99827
Atrial Septal Defect, Sinus Venosus Type	Congestive heart failure, Atrial flutter, Automatic atrial tachycardia, Atrial fibrillation, Supr...	ORPHA:99105
Neutropenia, Severe Congenital, X-Linked	Eczematoid dermatitis, Monocytopenia, Decreased CD4:CD8 ratio, Recurrent bacterial infections, Ne...	OMIM:300299
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Increased circulating ferritin concentration, Impaired lymphocyte transformation with phytohemagg...	OMIM:619313
Ciliary Dyskinesia, Primary, 36, X-Linked	Chronic otitis media, Situs inversus totalis, Recurrent sinusitis, Bronchiectasis, Recurrent resp...	OMIM:300991
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Failure to thrive, Aspiration pneumonia	OMIM:609528
Lambert Syndrome	Jaundice, Intrahepatic biliary atresia, Decreased circulating antibody level, Cholestasis, Intrau...	ORPHA:1296
Spermatogenic Failure 14	Male infertility, Round spermatid arrest, Azoospermia	OMIM:615842
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Panniculitis, Lymphadenopathy, Increased proportion of CD4-positive T cells, Vasculitis, Skin ras...	OMIM:617099
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Azoospermia, Infertility, Decreased testicular size, Hypogonadism, Primary amenorrhea	OMIM:229070
Immunodeficiency 54	Postnatal growth retardation, Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, ...	OMIM:609981
Arterial Tortuosity Syndrome	Myocarditis, Congestive heart failure, Hypertension, Cardiac arrest, Esophagitis, Hypertrophic ca...	ORPHA:3342
Rift Valley Fever	Hematemesis, Jaundice, Anemia, Melena, Elevated circulating hepatic transaminase concentration, I...	ORPHA:319251
Lissencephaly Syndrome, Norman-Roberts Type	Intrauterine growth retardation, Hypoplastic spleen	ORPHA:89844
Ciliary Dyskinesia, Primary, 27	Situs inversus totalis, Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Re...	OMIM:615504
Secondary Intestinal Lymphangiectasia	Cirrhosis, Recurrent infections, Decreased circulating antibody level, Pleural effusion, Right ve...	ORPHA:90363
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Chilblains, Thrombocytopenia, Splenomegaly, Intrauterine growth retardation, Increa...	OMIM:615010
Autoinflammation With Infantile Enterocolitis	Anemia, Pancytopenia, Skin rash, Short stature, Enterocolitis, Thrombocytopenia, Splenomegaly, Di...	OMIM:616050
Immunodeficiency 87 And Autoimmunity	Hypertension, Cholestasis, Ascites, Lymphopenia, Intrauterine growth retardation, Decreased CD4:C...	OMIM:619573
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Cirrhosis, Cholangitis, Pancytopenia, Recurrent infections, Thyroiditis, Neutropenia in presence ...	ORPHA:228426
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Congestive heart failure, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic tra...	OMIM:615895
Esophagitis, Eosinophilic, 2	Eosinophilia, Esophagitis	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia, Esophagitis	OMIM:610247
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Recurrent respiratory infections, Hepatitis	ORPHA:363523
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Cryptorchidism, Decreased circulating IgG level, Recurrent pneumonia, Recurrent upper...	OMIM:607143
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Pulmonary embolism, Hepatomegaly, Anemia, Iron deficiency anemia, Intestinal lymphangiectasia, Re...	OMIM:226300
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Immunodeficiency 81	Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Recurrent inf...	OMIM:619374
Maternal Uniparental Disomy Of Chromosome 1	Hepatomegaly, Panhypogammaglobulinemia, Pancytopenia, Recurrent infections, Short stature, Growth...	ORPHA:251009
Immunodeficiency 31C	Delayed puberty, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent vulvovagin...	OMIM:614162
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Chronic oral candidiasis, Recurrent Staphylococcus aureus infections, Skin rash, Chronic mucocuta...	OMIM:147060
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating hepatic transaminase concentration, Skin rash, Hypertension, Bone marrow hyp...	OMIM:615688
Ciliary Dyskinesia, Primary, 3	Situs inversus totalis, Recurrent otitis media, Recurrent sinusitis, Bronchiectasis, Recurrent re...	OMIM:608644
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Colchicine Poisoning	Myocarditis, Congestive heart failure, Hypotension, Leukocytosis, Hypovolemia, Cardiogenic shock,...	ORPHA:31824
Complement Factor I Deficiency	Decreased circulating complement C3 concentration, Recurrent otitis media, Decreased circulating ...	OMIM:610984
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Isolated Congenital Hypoglossia/Aglossia	Weight loss, Aspiration pneumonia	ORPHA:141152
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Incr...	ORPHA:508533
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Congenital Disorder Of Glycosylation, Type It	Delayed puberty, Recurrent otitis media, Intrahepatic cholestasis, Cardiomegaly, Hepatomegaly, In...	OMIM:614921
Systemic Lupus Erythematosus, Susceptibility To, 6	Malar rash, Arthritis, Pericarditis, Pleuritis	OMIM:609939
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Situs inversus totalis, Recurrent otitis media, Recurrent sinusitis, Recurrent pneumonia, Bronchi...	OMIM:620032
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Pulmonary artery s...	OMIM:617237
Atrial Septal Defect, Ostium Primum Type	Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat...	ORPHA:99106
Specific Granule Deficiency 2	Sepsis, Recurrent otitis media, Anemia, Recurrent pneumonia, Thrombocytopenia, Absent neutrophil ...	OMIM:617475
Fusariosis	Onychomycosis, Sinusitis, Granuloma, Unusual CNS infection, Lymphopenia, Neutropenia, Hypersensit...	ORPHA:228119
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Neonatal sepsis, Pulmonic stenosis, Leukopenia, Splenomegaly, Lymphopenia, Neut...	OMIM:612541
Asplenia, Isolated Congenital	Howell-Jolly bodies, Thrombocytosis, Asplenia	OMIM:271400
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Lymphopenia, Abn...	OMIM:619767
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent viral infections, BCGitis, Recurrent mycobacterium avium c...	OMIM:614892
Immunodeficiency 31B	Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections	OMIM:613796
Lymphangiectasia, Intestinal	Stillbirth, Intestinal lymphangiectasia, Decreased circulating IgG level, Lymphopenia	OMIM:152800
Macrocephaly/Autism Syndrome	Hepatomegaly, Recurrent otitis media, Recurrent infections, Decreased circulating antibody level,...	OMIM:605309
Ciliary Dyskinesia, Primary, 17	Situs inversus totalis, Recurrent otitis media, Dextrocardia, Chronic rhinitis, Bronchiectasis, R...	OMIM:614679
Stormorken-Sjaastad-Langslet Syndrome	Short stature, Anemia, Asplenia	ORPHA:3204
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Short stature, Splenomegal...	OMIM:614480
Dermatomyositis	Inflammatory myopathy, Skin rash, Sinus tachycardia, Pericarditis, Limb-girdle muscle weakness, M...	ORPHA:221
Leukocyte Adhesion Deficiency	Perianal abscess, Severe periodontitis, Impaired platelet aggregation, Sinusitis, Bone marrow hyp...	ORPHA:2968
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	First degree atrioventricular block, Right ventricular dilatation, Ventricular tachycardia, Left ...	OMIM:615616
Sézary Syndrome	Hepatomegaly, Lymphadenopathy, Abnormal immunoglobulin level, Abnormal lymphocyte morphology, Spl...	ORPHA:3162
Congenital Gerbode Defect	Congestive heart failure, Perimembranous ventricular septal defect, Abnormal tricuspid valve leaf...	ORPHA:99095
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Recurrent bronchitis, Otitis media, Recurrent Haemophilus influenzae infections, Chr...	OMIM:300455
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Neutropenia	OMIM:618752
Microlissencephaly	Pneumonia	ORPHA:1083
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Recurrent respiratory infections, Decreased proportion of class-sw...	OMIM:619375
Androgen Insensitivity, Partial	Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor...	OMIM:312300
Heme Oxygenase 1 Deficiency	Increased circulating ferritin concentration, Hepatomegaly, Increased circulating interleukin 6 c...	OMIM:614034
Nijmegen Breakage Syndrome-Like Disorder	Growth delay, Decreased circulating antibody level, Short stature	OMIM:613078
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Pleural effusion, Constrictive pericarditis	OMIM:602248
Acquired Idiopathic Sideroblastic Anemia	Congestive heart failure, Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic a...	ORPHA:75564
Hyper-Igd Syndrome	Chronic oral candidiasis, Lymphadenopathy, Recurrent infections, Arthritis, Skin rash, Increased ...	OMIM:260920
Infection-Related Hemolytic Uremic Syndrome	Myocarditis, Pancreatitis, Pleuritis, Acute colitis, Pleural empyema, Hypertension, Leukocytosis,...	ORPHA:544482
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Pfapa Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent pharyngitis, Arthritis, Splenomegaly, Infectious encepha...	ORPHA:42642
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,...	OMIM:620010
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Von Hippel-Lindau Disease	Myocarditis, Distal lower limb muscle weakness, Neoplasm of the pancreas, Abnormal left ventricul...	ORPHA:892
Premature Ovarian Failure 10	Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,...	OMIM:612885
Immunodeficiency 13	Recurrent otitis media, Bronchiolitis obliterans organizing pneumonia, B lymphocytopenia, T lymph...	OMIM:615518
Congenital Disorder Of Glycosylation, Type Iil	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circul...	OMIM:614576
Chédiak-Higashi Syndrome	Decreased liver function, Elevated circulating hepatic transaminase concentration, Abnormal leuko...	ORPHA:167
Zika Virus Disease	Myelitis, Arthritis, Skin rash, Increased circulating IgM level, Thrombocytopenia, Infectious enc...	ORPHA:448237
X-Linked Immunoneurologic Disorder	Recurrent respiratory infections, Decreased circulating IgG2 level, Abnormal pleura morphology	ORPHA:2571
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Recurrent viral infections, Recurrent my...	OMIM:614172
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Periodontitis, Lymphadenopathy, Recurrent infec...	OMIM:214500
Idiopathic Bronchiectasis	Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Cachexia, Re...	ORPHA:60033
Spermatogenic Failure 13	Male infertility, Azoospermia	OMIM:615841
Ectodermal Dysplasia And Immunodeficiency 1	Severe cytomegalovirus infection, Dysgammaglobulinemia, Recurrent bacterial infections, Aplasia o...	OMIM:300291
Acute Erythroid Leukemia	Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia, Monoclonal i...	ORPHA:318
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Arthritis, Constrictive pericarditis, Wrist flexion contracture, Congenital finger flexion contra...	OMIM:208250
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Complement Factor H Deficiency	Depletion of components of the alternative complement pathway, Decreased circulating complement f...	OMIM:609814
Ciliary Dyskinesia, Primary, 28	Situs inversus totalis, Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Re...	OMIM:615505
Sarcoidosis, Susceptibility To, 2	Pneumothorax, Abnormal pulmonary interstitial morphology, Hepatomegaly, Mediastinal lymphadenopat...	OMIM:612387
Vici Syndrome	Postnatal growth retardation, Congestive heart failure, Recurrent respiratory infections, Recurre...	OMIM:242840
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Erysi...	OMIM:214900
Interstitial Lung Disease 2	Cirrhosis, Increased circulating antibody level, Pulmonary arterial hypertension, Elevated bronch...	OMIM:178500
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Sepsis, Hypoparathyroidism, Orthostatic hypotension, Macrocytic anemia, Hypote...	ORPHA:199299
Ciliary Dyskinesia, Primary, 35	Chronic otitis media, Situs inversus totalis, Chronic rhinitis, Recurrent pneumonia, Bronchiectas...	OMIM:617092
Myotonic Dystrophy 2	Decreased circulating total IgM, Right bundle branch block, Premature ventricular contraction, De...	OMIM:602668
Shwachman-Diamond Syndrome	Aplastic anemia, Elevated circulating hepatic transaminase concentration, Macrocytic anemia, Skin...	ORPHA:811
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Spermatogenic Failure, X-Linked, 4	Male infertility, Azoospermia	OMIM:301077
Spondyloenchondrodysplasia	Autoimmune hemolytic anemia, Decreased response to growth hormone stimulation test, Pancytopenia,...	ORPHA:1855
Mucoepithelial Dysplasia, Hereditary	Corneal neovascularization, Melena, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Recu...	OMIM:158310
Riddle Syndrome	Short stature, Decreased circulating IgG level, Pulmonary fibrosis	OMIM:611943
Deafness-Lymphedema-Leukemia Syndrome	Chronic otitis media, Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, M...	ORPHA:3226
Allergic Bronchopulmonary Aspergillosis	Bronchiectasis, Abnormal eosinophil morphology, Emphysema, Pulmonary arterial hypertension	ORPHA:1164
Netherton Syndrome	Emphysema, Recurrent infections, Skin rash, Decreased circulating antibody level, Increased circu...	ORPHA:634
Spondyloepimetaphyseal Dysplasia, Krakow Type	Annular pancreas, Rhizomelia, Eczematoid dermatitis, Decreased circulating total IgM, Elevated ci...	OMIM:618162
Congenital Disorder Of Glycosylation, Type Iih	Interface hepatitis, Elevated serum transaminases during infections, Elevated circulating asparta...	OMIM:611182
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulating IgA level	OMIM:215250
Scorpion Envenomation	Myocarditis, Pulmonary edema, Congestive heart failure, Prominent U wave, Hypertension, Acute pan...	ORPHA:466677
Gracile Bone Dysplasia	Short stature, Hypoplastic spleen, Asplenia	OMIM:602361
Mucopolysaccharidosis Type 7	Ascites, Splenomegaly, Abnormal pleura morphology, Recurrent respiratory infections, Hepatitis	ORPHA:584
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Aortic regurgitation, Thrombocytopenia, Macrothrombocytopenia...	OMIM:603585
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Lymphadenopathy, Arthritis, Skin rash, Leukocytosis, Splenomegaly,...	OMIM:611762
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased response to growth hormone stimulation test, Recurrent otitis media, Sepsis, Recurrent ...	ORPHA:293978
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Delayed puberty, Recurrent infections, Short stature, Bronchiectasis, Decreased proportion of CD4...	ORPHA:477814
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat...	OMIM:619868
Tropical Endomyocardial Fibrosis	P pulmonale, Abnormal ST segment, Ascites, Splenomegaly, Prolonged QRS complex, Cardiomegaly, Pul...	ORPHA:75565
Ciliary Dyskinesia, Primary, 7	Situs inversus totalis, Recurrent otitis media, Dextrocardia, Chronic rhinitis, Recurrent pneumon...	OMIM:611884
Wiskott-Aldrich Syndrome	Chronic otitis media, Hematemesis, Abnormal platelet function, Sinusitis, Epistaxis, Hematochezia...	ORPHA:906
Bronchogenic Cyst	Bronchogenic cyst, Abnormality of the diaphragm, Atelectasis, Abnormal peritoneum morphology, Abn...	ORPHA:2357
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia	OMIM:600546
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Anemia, Hypochromic microcytic anemia, Severe postnatal growth retarda...	ORPHA:440713
Atelis Syndrome 1	Anemia, Recurrent infections, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Bronchiectasis...	OMIM:620184
Mucopolysaccharidosis-Plus Syndrome	Congestive heart failure, Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia...	OMIM:617303
Sarcoidosis	Decreased liver function, Increased T cell count, Leukopenia, Erythema nodosum, Enlarged lacrimal...	ORPHA:797
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T...	OMIM:269600
Autoimmune Polyendocrine Syndrome, Type Ii	Cirrhosis, Iron deficiency anemia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Asple...	OMIM:269200
Amoebiasis Due To Entamoeba Histolytica	Lung abscess, Congestive heart failure, Liver abscess, Anemia, Acute colitis, Pleural empyema, Pl...	ORPHA:67
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Left ventricular systolic dysfunction, Hepatomegaly, Patent foramen ovale, Aspiration pneumonia, ...	OMIM:619167
Neuronal Intestinal Pseudoobstruction	Recurrent infections, Decreased circulating antibody level	ORPHA:99811
Ataxia-Telangiectasia	Delayed puberty, Recurrent lower respiratory tract infections, Recurrent bronchitis, Hypoplasia o...	OMIM:208900
Gaucher Disease Type 1	Delayed puberty, Increased circulating antibody level, Ascites, Leukopenia, Splenomegaly, Pancyto...	ORPHA:77259
Mirage Syndrome	Sepsis, Anemia, Recurrent urinary tract infections, Aspiration pneumonia, Decreased testicular si...	OMIM:617053
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Recurrent infections, Pancreatic hypoplasia, Cholestasis, Pancreatic ...	OMIM:610199
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Transient hypogammaglobulinemia of infancy, Recurrent infections	OMIM:251240
Ciliary Dyskinesia, Primary, 16	Chronic otitis media, Situs inversus totalis, Pulmonary insufficiency, Chronic rhinitis, Bronchie...	OMIM:614017
Primary Ciliary Dyskinesia	Chronic otitis media, Recurrent otitis media, Atelectasis, Pulmonary situs ambiguus, Chronic rhin...	ORPHA:244
Ciliary Dyskinesia, Primary, 33	Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Recurrent bron...	OMIM:616726
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Recurrent otitis media, Dextrocardia, Bronchiectasis, Recurrent respirato...	OMIM:616037
Ciliary Dyskinesia, Primary, 24	Situs inversus totalis, Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, Bronchiect...	OMIM:615481
Oculopharyngodistal Myopathy	Abnormality of orbicularis oris muscle, Proximal muscle weakness in upper limbs, Distal lower lim...	ORPHA:98897
Atrial Septal Defect, Coronary Sinus Type	Presyncope, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Syncope, Transi...	ORPHA:99104
Porphyria Cutanea Tarda	Hepatic lobular inflammation, Elevated circulating hepatic transaminase concentration, Periportal...	ORPHA:101330
Muscular Hypertonia, Lethal	Pneumonia	OMIM:254120
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Vasculitis in the skin, Splenomegaly, Recurrent upper respiratory tract inf...	OMIM:620296
Alopecia Antibody Deficiency	Short stature, Recurrent respiratory infections, Decreased circulating antibody level	ORPHA:1006
Lymphoid Interstitial Pneumonia	Aortic valve stenosis, Lymphocytic interstitial pneumonia, Cor pulmonale	OMIM:247610
Ciliary Dyskinesia, Primary, 14	Situs inversus totalis, Polysplenia, Recurrent pneumonia, Otitis media, Bronchiectasis, Recurrent...	OMIM:613807
Timothy Syndrome	Prolonged QT interval, Cardiomegaly, Bradycardia, Bronchitis, Patent foramen ovale, Pulmonary art...	OMIM:601005
Sickle Cell Disease	Jaundice, Hepatomegaly, Cholelithiasis, Hypertension, Leukocytosis, Splenic infarction, Target ce...	OMIM:603903
Atrial Septal Defect, Ostium Secundum Type	Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric...	ORPHA:99103
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Decreased glucosephosphate isomerase leve...	OMIM:613470
Glycogen Storage Disease Ib	Delayed puberty, Enlarged kidney, Hepatomegaly, Pancreatitis, Elevated circulating hepatic transa...	OMIM:232220
Bronchial Neuroendocrine Tumor	Abnormal pulmonary interstitial morphology, Hepatomegaly, Chronic noninfectious lymphadenopathy, ...	ORPHA:97287
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Decreased circulating antibody level, Short stature, Pure red cell ...	OMIM:618165
Mannosidosis, Alpha B, Lysosomal	Hepatomegaly, Reduced leukocyte alpha-mannosidase activity, Vacuolated lymphocytes, Decreased cir...	OMIM:248500
X-Linked Centronuclear Myopathy	Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Centrally n...	ORPHA:596
Staphylococcal Necrotizing Pneumonia	Pneumothorax, Pulmonary pneumatocele, Sepsis, Acute infectious pneumonia, Pleural empyema, Pleura...	ORPHA:36238
Follicular Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology, Pleural effusion, S...	ORPHA:545
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Elevated circulating hepatic transa...	OMIM:214950
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg...	OMIM:619658
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrial septal defect, Jaundice, Hepatomegaly, Prolonged QT interval, Tachycardia, Patent foramen ...	ORPHA:26793
Gaucher Disease	Delayed puberty, Increased circulating antibody level, Leukopenia, Splenomegaly, Polyclonal eleva...	ORPHA:355
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology, Abnormal pleura morphology	ORPHA:724
Immunodeficiency 17	Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Abnormal B cell mo...	OMIM:615607
Pulmonary Non-Tuberculous Mycobacterial Infection	Pneumothorax, Lymphadenopathy, Pleural effusion, Pericardial effusion, Weight loss, Bronchiectasis	ORPHA:411703
Ciliary Dyskinesia, Primary, 38	Chronic otitis media, Situs inversus totalis, Dextrocardia, Rhinitis, Bronchiectasis, Chronic sin...	OMIM:618063
Mounier-Kühn Syndrome	Pneumonia, Bronchitis, Recurrent respiratory infections, Recurrent bronchopulmonary infections	ORPHA:3347
Complement Component 5 Deficiency	Recurrent meningococcal disease, Reduced circulating CH50 activity, Recurrent Neisserial infectio...	OMIM:609536
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia	OMIM:610738
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Recurrent infections, Hepa...	OMIM:619463
Ciliary Dyskinesia, Primary, 26	Situs inversus totalis, Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Re...	OMIM:615500
Immunoneurologic Disorder, X-Linked	Neonatal death, Decreased circulating IgG2 level	OMIM:300076
Hepatitis, Fulminant Viral, Susceptibility To	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati...	OMIM:618549
47,Xyy Syndrome	Male infertility, Hypospadias, Azoospermia, Oligozoospermia, Varicocele, Cryptorchidism, Micropen...	ORPHA:8
Hemophagocytic Syndrome Associated With An Infection	Severe cytomegalovirus infection, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer...	ORPHA:158048
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Recurrent abscess formation, Rectal abscess, Peritoneal abscess, Hyp...	ORPHA:436252
Hemochromatosis, Type 2B	Congestive heart failure, Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transamin...	OMIM:613313
Hemochromatosis, Type 2A	Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia	OMIM:602390
Classic Hodgkin Lymphoma	Hepatomegaly, Lymphadenopathy, Skin rash, Bone marrow hypocellularity, Splenomegaly	ORPHA:391
Immunodeficiency 68	Abnormal natural killer cell count, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Abscess	OMIM:612260
Ciliary Dyskinesia, Primary, 32	Situs inversus totalis, Recurrent otitis media, Chronic rhinitis, Bronchiectasis, Recurrent respi...	OMIM:616481
Ciliary Dyskinesia, Primary, 1	Chronic otitis media, Situs inversus totalis, Atelectasis, Recurrent bronchitis, Chronic rhinitis...	OMIM:244400
Drug-Induced Lupus Erythematosus	Anemia, Malar rash, Prolonged QTc interval, Pericarditis, Pericardial effusion, Thrombocytopenia,...	ORPHA:231111
Adrenal Hypoplasia, Congenital	Azoospermia, Oligozoospermia, Precocious puberty, Cryptorchidism, Hypogonadotropic hypogonadism	OMIM:300200
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Defective T cell proliferation, Pancolitis, Increased circulating IgG level, In...	OMIM:618213
Thrombocythemia 1	Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp...	OMIM:187950
Neonatal Lupus Erythematosus	Aplastic anemia, Heart block, Prolonged QT interval, Anemia, Hepatomegaly, Pancytopenia, Malar ra...	ORPHA:398124
Myasthenia Gravis	Myositis, Rheumatoid arthritis, Hashimoto thyroiditis, Pure red cell aplasia, Raynaud phenomenon,...	ORPHA:589
Trichohepatoenteric Syndrome 2	Cirrhosis, Hepatomegaly, Chronic hepatitis, Intrauterine growth retardation, Colitis	OMIM:614602
Leptospirosis	Jaundice, Hepatomegaly, Lymphadenopathy, Optic neuritis, Skin rash, Pleural effusion, Hypotension...	ORPHA:509
Congenital Multicore Myopathy With External Ophthalmoplegia	Internally nucleated skeletal muscle fibers, Muscular dystrophy, Tibialis anterior muscle atrophy...	ORPHA:98905
African Trypanosomiasis	Myocarditis, Congestive heart failure, Jaundice, Hepatomegaly, Lymphadenopathy, Iritis, Myelitis,...	ORPHA:3385
Ciliary Dyskinesia, Primary, 13	Situs inversus totalis, Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis, Bronch...	OMIM:613193
Wells Syndrome	Eosinophilia	ORPHA:901
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Osteoarthritis of the elbow, Pleuritis, Knee osteoarthritis, Camptodactyly of toe, Pericarditis, ...	ORPHA:2848
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Atrioventricular block, Arrhythmia	ORPHA:93317
Chronic Granulomatous Disease	Sepsis, Hepatomegaly, Mediastinal lymphadenopathy, Liver abscess, Inflammatory abnormality of the...	ORPHA:379
Chronic Mucocutaneous Candidiasis	Cheilitis, Recurrent infections, Recurrent urinary tract infections, Skin rash, Recurrent respira...	ORPHA:1334
Thymoma	Aplastic anemia, Myositis, Abnormal lymphocyte physiology, Abnormal lymphocyte proliferation, Neo...	ORPHA:99867
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Epilepsy-Telangiectasia Syndrome	Decreased circulating antibody level, Decreased circulating IgA level	ORPHA:1951
Functioning Gonadotropic Adenoma	Isosexual precocious puberty, Macroorchidism, postpubertal, Infertility, Oligozoospermia, Impoten...	ORPHA:91348
Icf Syndrome	Anemia, Decreased circulating antibody level, Short stature, Lymphopenia, Recurrent respiratory i...	ORPHA:2268
Adult Acute Respiratory Distress Syndrome	Pulmonary edema, Sepsis, Pancreatitis, Increased circulating interleukin 6 concentration, Vasculi...	ORPHA:70578
Ciliary Dyskinesia, Primary, 12	Chronic otitis media, Situs inversus totalis, Chronic rhinitis, Bronchiectasis, Recurrent respira...	OMIM:612650
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Ciliary Dyskinesia, Primary, 5	Situs inversus totalis, Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, Recurrent ...	OMIM:608647
Ciliary Dyskinesia, Primary, 21	Recurrent otitis media, Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis	OMIM:615294
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Decreased circulating antibody level	ORPHA:85317
Incontinentia Pigmenti	Congestive heart failure, Skin rash, Cerebral ischemia, Pulmonary arterial hypertension, Retinal ...	ORPHA:464
Microscopic Polyangiitis	Congestive heart failure, Gastrointestinal hemorrhage, Pancreatitis, Arthritis, Skin rash, Vascul...	ORPHA:727
Thrombocytopenia-Absent Radius Syndrome	Anemia, Seborrheic dermatitis, Decreased circulating antibody level, Leukocytosis, Short stature,...	OMIM:274000
Combined Oxidative Phosphorylation Deficiency 51	Growth delay, Severe short stature, Intrauterine growth retardation, Aspiration pneumonia	OMIM:619057
Acute Lung Injury	Abnormal circulating cytokine concentration, Abnormal pulmonary interstitial morphology, Sepsis, ...	ORPHA:178320
Leukocyte Adhesion Deficiency, Type I	Periodontitis, Recurrent infections, Rectal abscess, Chronic mucocutaneous candidiasis, Recurrent...	OMIM:116920
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Recurrent pharyngitis, Pleuritis, Myositis, Vasculitis, Skin rash, Arthritis, Le...	ORPHA:32960
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Acute hepatitis, Hepatomegaly, Decreased liver function	OMIM:238970
Lipodystrophy, Congenital Generalized, Type 4	Hepatomegaly, Prolonged QT interval, Elevated circulating hepatic transaminase concentration, Bra...	OMIM:613327
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Abnormal pulmonary interstitial morphology, Hepatomegaly, Mediastinal l...	OMIM:181000
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibody level, Cardiomyo...	OMIM:616084
Bronchiectasis With Or Without Elevated Sweat Chloride 3	Bronchiectasis, Chronic bronchitis	OMIM:613071
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Postnatal growth retardation, Hepatomegaly, Cholelithiasis, Seborrheic dermatitis, B lymphocytope...	ORPHA:83617
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Chronic oral candidiasis, Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Chronic m...	OMIM:240300
Cholesteryl Ester Storage Disease	Increased circulating lactate dehydrogenase concentration, Leukopenia, Splenomegaly, Acute hepati...	OMIM:278000
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Anemia, Increased blood pressure, Elevated circulating hepatic transaminase concent...	OMIM:619487
Ciliary Dyskinesia, Primary, 15	Situs inversus totalis, Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent re...	OMIM:613808
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Cryptorchidism, Oligozoospermia	OMIM:314300
Alpha-Mannosidosis, Adult Form	Aortic regurgitation, Pancytopenia, Recurrent infections, Hepatosplenomegaly, Pneumonia, Recurren...	ORPHA:309288
Ciliary Dyskinesia, Primary, 42	Bronchiectasis, Pneumonia, Recurrent sinusitis, Chronic rhinitis	OMIM:618695
Mccune-Albright Syndrome	Hepatocellular adenoma, Pancreatitis, Pancytopenia, Cholestasis, Abnormal testis morphology, Bone...	ORPHA:562
Familial Mediterranean Fever	Hepatomegaly, Pleuritis, Crohn's disease, Arthritis, Pleural effusion, Leukocytosis, Erysipelas, ...	OMIM:249100
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Giant cell hepatitis, Jaundice, Elevated circulating hepatic transamin...	OMIM:208085
Incontinentia Pigmenti	Breast hypoplasia, Breast aplasia, Hypoplastic nipples, Leukocytosis, Retinal hemorrhage, Short s...	OMIM:308300
Immunodeficiency 55	Postnatal growth retardation, Lymphadenopathy, Recurrent infections, Eczematoid dermatitis, Short...	OMIM:617827
Ciliary Dyskinesia, Primary, 22	Situs inversus totalis, Recurrent otitis media, Dextrocardia, Rhinitis, Recurrent sinusitis, Bron...	OMIM:615444
Nocardiosis	Pericarditis, Unusual CNS infection, Thyroiditis, Conjunctivitis, Pneumonia, Scleritis, Cutaneous...	ORPHA:31204
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Anemia, Abnormal immunoglobulin level, Pancytopenia, Recurrent infect...	OMIM:242900
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Jaundice, Anemia, Elevated cir...	ORPHA:64743
Ciliary Dyskinesia, Primary, 19	Situs inversus totalis, Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Re...	OMIM:614935
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Decreased circulating antibody level, Lymphopenia	ORPHA:1116
Immunodeficiency 77	Bronchiectasis, Nontuberculous mycobacterial pulmonary infection, Cutaneous abscess, Recurrent to...	OMIM:619223
Hemophagocytic Lymphohistiocytosis, Familial, 2	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenopathy, Elevated circula...	OMIM:603553
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Elevated circulating hepatic tra...	OMIM:616278
Microphthalmia, Syndromic 9	Multilobulated spleen, Short stature, Neonatal death, Severe short stature, Hypoplastic spleen, I...	OMIM:601186
Bronchiolitis Obliterans	Bronchiectasis, Pneumonia, Respiratory tract infection, Bronchiolitis obliterans	ORPHA:1303
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	ORPHA:79095
Ciliary Dyskinesia, Primary, 40	Absent outer dynein arms, Infertility, Patent ductus arteriosus, Azoospermia	OMIM:618300
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Primary amenorrhea, Cryptorchid...	OMIM:614837
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Hepatomegaly, Pleural effusion, Ascites, Pulmonary arterial hypertensio...	ORPHA:2414
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Pleuritis, Vasculitis, Skin rash, Arthritis, Ascites, Leukocytosis...	ORPHA:342
Syndromic Diarrhea	Cirrhosis, Hepatomegaly, Gastritis, Aortic regurgitation, Panhypogammaglobulinemia, Recurrent inf...	ORPHA:84064
Laterality Defects, Autosomal Dominant	Asplenia	OMIM:601086
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Tempi Syndrome	Abnormality of the pulmonary vasculature, Transudative pleural effusion, Increased circulating Ig...	ORPHA:284227
Ciliary Dyskinesia, Primary, 53	Hypoplastic spleen, Polysplenia, Abdominal situs inversus	OMIM:620642
Schimke Immuno-Osseous Dysplasia	Hypertension, Abnormal lymphocyte physiology, Cerebral ischemia, Bone marrow hypocellularity, Lym...	ORPHA:1830
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Jaundice, Giant cell hepatitis, Hepatomegaly, Elevated circulating hep...	OMIM:613404
Ciliary Dyskinesia, Primary, 46	Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Bronchiectasis	OMIM:619436
Lysinuric Protein Intolerance	Elevated circulating hepatic transaminase concentration, Increased circulating antibody level, In...	ORPHA:470
Alg12-Cdg	Sepsis, Elevated circulating hepatic transaminase concentration, Recurrent pharyngitis, Partial a...	ORPHA:79324
Behçet Disease	Gastrointestinal hemorrhage, Optic neuritis, Cerebral ischemia, Pericarditis, Splenomegaly, Recur...	ORPHA:117
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Hepatomegaly, Mediastinal lymphadenopathy, Recurrent ...	OMIM:620233
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Recurrent respiratory infecti...	ORPHA:100026
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Abnormal spermatogenesis, Abnormali...	OMIM:228300
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Recurrent candida infections, Hepatomegaly, Impaired T cell function, Decreased testicular size, ...	OMIM:201100
Lassa Fever	Sepsis, Jaundice, Increased circulating IgM level, Conjunctivitis, Shock	ORPHA:99824
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Pneumonia, Pulmonary hemorrhage, N...	ORPHA:238459
Interatrial Communication	Atrial septal defect, Congestive heart failure, Atrial flutter, Sinus venosus atrial septal defec...	ORPHA:1478
Hereditary Orotic Aciduria	Recurrent respiratory infections, Anemia, Splenomegaly, Impaired T cell function	ORPHA:30
X-Linked Severe Congenital Neutropenia	Monocytopenia, Recurrent bacterial infections, Neutropenia	ORPHA:86788
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole...	OMIM:617394
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Skin rash, Anemia of inadequate production, Exocrine pancreatic insuffici...	OMIM:612714
Ciliary Dyskinesia, Primary, 41	Recurrent sinusitis, Recurrent otitis media, Bronchiectasis	OMIM:618449
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia	OMIM:618948
Xq28 (MECP2) duplication	Recurrent respiratory infections, Decreased circulating IgA level	DECIPHER:45
Congenital Isolated Acth Deficiency	Prolonged neonatal jaundice, Hepatitis, Hypotension	ORPHA:199296
Waldenström Macroglobulinemia	Congestive heart failure, Gastrointestinal hemorrhage, Normocytic anemia, Hepatomegaly, Lymphaden...	ORPHA:33226
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Right ventricular dilatation, Limb-girdle muscular dystrophy, Myopathy	ORPHA:369847
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper...	OMIM:617068
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Chronic hemolytic anemia, Atelectasis, Recurrent infections, Microvesicular hepatic...	OMIM:618278
Marburg Hemorrhagic Fever	Elevated circulating hepatic transaminase concentration, Increased circulating antibody level, Br...	ORPHA:99826
Chronic Beryllium Disease	Hypersensitivity pneumonitis, Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T ...	ORPHA:133
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Ciliary Dyskinesia, Primary, 44	Bronchiectasis, Recurrent sinusitis, Otitis media	OMIM:618781
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Macrovesicular hepatic steatosis, Acute hepatic steatosis, Cholestasis, Cholesterol gallstones, H...	ORPHA:209902
Infant Acute Respiratory Distress Syndrome	Pulmonary edema, Sepsis, Atelectasis, Tachycardia, Bradycardia, Cardiac arrest, Hypotension, Resp...	ORPHA:70587
Ciliary Dyskinesia, Primary, 2	Situs inversus totalis, Dextrocardia, Sinusitis, Otitis media, Bronchiectasis, Recurrent respirat...	OMIM:606763
Acute Disseminated Encephalomyelitis	Severe Epstein Barr virus infection, Myelitis, Herpes simplex encephalitis, Optic neuritis, Sever...	ORPHA:83597
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Chronic otitis media, Recurrent respiratory infections, Atelectasis, Bronchiectasis	OMIM:619466
Bronchiectasis With Or Without Elevated Sweat Chloride 2	Bronchiectasis, Recurrent bronchiolitis, Abnormality of exocrine pancreas physiology, Chronic bro...	OMIM:613021
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Hepatomegaly, Cholelithiasis, Reduced red cell pyruvate kinas...	OMIM:266200
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Upper limb muscle weakness, Aspiration pneumonia, Lower limb muscle weakness	ORPHA:90117
Lichen Planopilaris	Hepatitis	ORPHA:525
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Reduced level of N-acetylglucosaminyltransferase II, Cholelithiasis, Anemia of inadequa...	OMIM:224100
Ciliary Dyskinesia, Primary, 11	Chronic rhinitis, Short stature, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infec...	OMIM:612649
Multiple Myeloma	Anemia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgA level, Decrea...	ORPHA:29073
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Abnormal lung lobation, Hypoparathyroidism, Restrictive cardiomyopathy, Low alkaline phosphatase,...	ORPHA:369837
Ciliary Dyskinesia, Primary, 37	Bronchiectasis, Situs inversus totalis, Dextrocardia, Chronic rhinitis	OMIM:617577
Giant Cell Arteritis	Mediastinal lymphadenopathy, Recurrent pharyngitis, Arthritis, Vasculitis, Cerebral ischemia, Dou...	ORPHA:397
Chronic Thromboembolic Pulmonary Hypertension	Congestive heart failure, Increased pulmonary vascular resistance, Right bundle branch block, Mye...	ORPHA:70591
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Calcinosis, Myositis, Arthritis, Skin rash, Vasculitis, Cardiomyopat...	ORPHA:93672
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	OMIM:616860
Vici Syndrome	Recurrent infections, Cardiomyopathy, Short stature, Decreased circulating IgG level, Recurrent r...	ORPHA:1493
Glycogen Storage Disease Ixc	Postnatal growth retardation, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase ...	OMIM:613027
Hennekam Syndrome	Lymphadenopathy, Chylothorax, Decreased circulating antibody level, Ascites, Erysipelas, Mild pos...	ORPHA:2136
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Azoospermia, Decreased testicular size, Hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis	OMIM:614897
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis, Severe infection	ORPHA:206594
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Dysgammaglobulinemia, Recurrent otitis media, B lymphocytopenia, Rec...	OMIM:251260
Celiac Disease, Susceptibility To, 1	Delayed puberty, Postnatal growth retardation, Elevated circulating hepatic transaminase concentr...	OMIM:212750
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, True hermaphroditis...	OMIM:278850
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy, Skin rash, Multiple pulmonary cysts, ...	ORPHA:79128
Liver Failure, Infantile, Transient	Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transamina...	OMIM:613070
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Congestive heart failure, Enlarged kidney, Sepsis, Anemia, Tricuspid regurgitation, Pulmonary art...	ORPHA:505248
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections, Recurrent sinusitis	OMIM:620197
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Acute Interstitial Pneumonia	Reduced hematocrit, Atelectasis, Lymphadenopathy, Hypertension, Pleural effusion, Bronchiectasis,...	ORPHA:79126
Reactive Arthritis	Recurrent aphthous stomatitis, Aortic regurgitation, Arthritis, Pericarditis, Pustule, Inflammati...	ORPHA:29207
Pearson Syndrome	Postnatal growth retardation, Hepatomegaly, Anemia, Pancytopenia, Reticulocytosis, Growth delay, ...	ORPHA:699
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Normocytic anemia, Elevated circulating alkaline phosphatase concent...	ORPHA:247691
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Abnormal heart morphology, Heart murmur	ORPHA:1867
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic tran...	ORPHA:131
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Atrial septal defect, Arrhythmia	OMIM:250220
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Respiratory tract infection, Weight loss...	ORPHA:79127
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent otitis media, Lymphadenopathy, Recurrent respiratory infections, T lymphocytopenia, Rhe...	OMIM:607944
Ring Chromosome 21 Syndrome	Short stature, Decreased circulating antibody level	ORPHA:1445
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Elevated circulatin...	OMIM:602347
Polycythemia Vera	Gastrointestinal hemorrhage, Increased red blood cell mass, Budd-Chiari syndrome, Cerebral ischem...	OMIM:263300
Hypoglossia With Situs Inversus	Polysplenia, Asplenia	OMIM:612776
Surfactant Metabolism Dysfunction, Pulmonary, 2	Intraalveolar phospholipid accumulation, Nonspecific interstitial pneumonia, Intralobular septal ...	OMIM:610913
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Granulomatosis With Polyangiitis	Chronic otitis media, Gastrointestinal hemorrhage, Inflammatory abnormality of the eye, Skin rash...	ORPHA:900
Lead Poisoning	Decreased male libido, Infertility, Oligozoospermia, Reduced sperm motility, Abnormality of the m...	ORPHA:330015
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Delayed puberty, Enlarged kidney, Hepatocellular adenoma, Hypertension, Chronic neutropenia, Epis...	ORPHA:79259
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Pericardit...	OMIM:212065
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated circulating hepatic transaminase concentration, Increased circulating antibody level, Re...	OMIM:256040
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating interleukin 6 concentration, Pleural...	ORPHA:457077
Partial Androgen Insensitivity Syndrome	Blind vagina, Clitoral hypertrophy, Male infertility, Hypospadias, Azoospermia, Aplasia of the ut...	ORPHA:90797
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Distal lower limb muscle weakness, Scapular winging, Tendon rupture, Fiber type grouping, Osteoar...	OMIM:620080
Leukocyte Adhesion Deficiency Type Ii	Recurrent otitis media, Severe periodontitis, Hepatomegaly, Anemia, Recurrent infections, Recurre...	ORPHA:99843
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Usual int...	OMIM:620367
Alstrom Syndrome	Congestive heart failure, Decreased response to growth hormone stimulation test, Hepatomegaly, El...	OMIM:203800
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Cowden Syndrome 1	Recurrent infections, Thyroiditis, Decreased circulating antibody level, Ovarian cyst, Lymphopeni...	OMIM:158350
Felty Syndrome	Rheumatoid arthritis, Splenomegaly, Neutropenia	OMIM:134750
Bare Lymphocyte Syndrome, Type I	Chronic otitis media, Emphysema, Recurrent bronchitis, Bronchiolitis, Bronchiectasis, Chronic sin...	OMIM:604571
Congenital Disorder Of Glycosylation, Type Iib	Hepatomegaly, Decreased circulating antibody level, Reduced tissue mannosyl-oligosaccharide gluco...	OMIM:606056
Pituitary Dermoid And Epidermoid Cysts	Oligomenorrhea, Amenorrhea, Oligozoospermia, Hypogonadism	ORPHA:91351
Chromomycosis	Lymphangiectasis, Abnormal lung morphology, Keratitis, Recurrent bacterial infections, Keratoconj...	ORPHA:182
Yellow Nail Syndrome	Hypoplasia of lymphatic vessels, Pleuritis, Neoplasm of the lung, Pulmonary arterial hypertension...	ORPHA:662
Testicular Germ Cell Tumor	Azoospermia	OMIM:273300
Congenital Tracheomalacia	Pneumothorax, Emphysema, Cardiomegaly, Single ventricle, Ventricular septal defect, Pulmonary art...	ORPHA:95430
Alpha-Thalassemia	Anisopoikilocytosis, Congestive heart failure, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis...	ORPHA:846
Wilson Disease	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Anemia, Hypoparathyroidism, Hepatocellular ca...	OMIM:277900
Trichohepatoenteric Syndrome 1	Cirrhosis, Jaundice, Hepatomegaly, Aortic regurgitation, Decreased circulating antibody level, Ch...	OMIM:222470
Bronchiectasis With Or Without Elevated Sweat Chloride 1	Bronchiectasis, Abnormality of exocrine pancreas physiology, Chronic bronchitis	OMIM:211400
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Anemia, Short stature, Bone marrow hypocel...	OMIM:603467
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Intraalveolar phos...	ORPHA:217563
Kenny-Caffey Syndrome, Type 1	Anemia, Congenital hypoparathyroidism, Proportionate short stature, Intrauterine growth retardati...	OMIM:244460
Caroli Disease	Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Ciliary Dyskinesia, Primary, 45	Bronchiectasis, Recurrent respiratory infections, Chronic rhinitis	OMIM:618801
Tracheobronchopathia Osteochondroplastica	Atelectasis, Bronchitis, Esophagitis, Recurrent pneumonia, Pneumonia, Recurrent respiratory infec...	ORPHA:3348
Idiopathic Pulmonary Fibrosis	Pulmonary insufficiency, Abnormal pulmonary interstitial morphology, Reticular pattern on pulmona...	ORPHA:2032
Blau Syndrome	Iritis, Flexion contracture of toe, Arthritis, Tendonitis, Hypertension, Synovitis, Eczematoid de...	OMIM:186580
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Reduced level of N-acetylglucosaminyl...	ORPHA:79329
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Recurrent aspiration pneumonia	OMIM:619971
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia, Aspiration pneumonia	ORPHA:52368
Ciliary Dyskinesia, Primary, 43	Abdominal situs inversus, Recurrent lower respiratory tract infections, Chronic rhinitis, Recurre...	OMIM:618699
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormal salivary gland morphology, Keratoconjunctivitis sicca, Lymphad...	ORPHA:79078
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Hepatomegaly, Panniculitis, Lymphadenopathy, Myositis, Splenomegaly	OMIM:619183
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Reduced level of N-acetylglucosaminyltransferase II, Macrocytic dyserythropoietic a...	OMIM:224120
Gm1 Gangliosidosis	Congestive heart failure, Cardiomyopathy, Aspiration pneumonia, Failure to thrive, Camptodactyly ...	ORPHA:354
Mitochondrial Complex I Deficiency, Nuclear Type 33	Bronchiectasis, Intrauterine growth retardation, Aspiration pneumonia, Neutropenia	OMIM:618253
Interstitial Lung Disease 1	Intralobular septal thickening, Nonspecific interstitial pneumonia, Elevated bronchoalveolar lava...	OMIM:619611
Yellow Fever	Hematemesis, Jaundice, Increased circulating interleukin 6 concentration, Reduced left ventricula...	ORPHA:99829
Ciliary Dyskinesia, Primary, 20	Situs inversus totalis, Recurrent otitis media, Atelectasis, Dextrocardia, Pulmonary arterial hyp...	OMIM:615067
Juvenile Neuronal Ceroid Lipofuscinosis	Tachycardia, Abnormal heart morphology, Aspiration pneumonia	ORPHA:79264
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Recurrent aspiration pneumonia, Abnormal circulating enzyme concentration or activity	ORPHA:2590
Renal-Hepatic-Pancreatic Dysplasia 2	Stillbirth, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformation of...	OMIM:615415
Chromosome 6Q24-Q25 Deletion Syndrome	Persistent fetal circulation, Dysplastic pulmonary valve, Right ventricular dilatation, Tricuspid...	OMIM:612863
Beta-Thalassemia Intermedia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Hypoparathyroidism, Cholelithiasis, ...	ORPHA:231222
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Gastrointestinal hemorrhage, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transam...	ORPHA:247598
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:235555
Insulin-Resistance Syndrome Type B	Abnormal salivary gland morphology, Increased circulating IgG level, Skin rash, Increased circula...	ORPHA:2298
Familial Nasal Acilia	Atelectasis, Chronic rhinitis, Recurrent upper respiratory tract infections, Bronchiectasis, Chro...	ORPHA:922
Cryptococcosis	Cirrhosis, Prostatitis, Mediastinal lymphadenopathy, Sepsis, Lymphoid leukemia, Pleural effusion,...	ORPHA:1546
Gaucher Disease Type 3	Delayed puberty, Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Increased circ...	ORPHA:77261
Obesity Due To Congenital Leptin Deficiency	Hypoplasia of the ovary, Pituitary hypothyroidism, Decreased testicular size, Decreased proportio...	ORPHA:66628
Fish-Eye Disease	Angina pectoris, Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Hereditary Pulmonary Alveolar Proteinosis	Acute infectious pneumonia, Failure to thrive in infancy, Crazy paving pattern, Tachycardia	ORPHA:264675
Renal-Hepatic-Pancreatic Dysplasia 1	Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Cholestasis, Biliary cirrhosis, Portal hyperten...	OMIM:208540
Immunodeficiency 65, Susceptibility To Viral Infections	Stomatitis, Recurrent viral infections, Recurrent gastroenteritis, Bronchiectasis	OMIM:618648
Say-Barber-Miller Syndrome	Abnormal T cell morphology, Panniculitis, Decreased circulating antibody level, Eczematoid dermat...	ORPHA:3132
Obesity Due To Leptin Receptor Gene Deficiency	Hypoplasia of the ovary, Pituitary hypothyroidism, Decreased testicular size, Decreased proportio...	ORPHA:179494
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Anemia, Agammaglobulinemia, Lymphopenia, Recurrent respiratory infections, Abnormality of the pan...	ORPHA:935
Generalized Glucocorticoid Resistance Syndrome	Infertility, Oligozoospermia, Female pseudohermaphroditism, Oligomenorrhea, Precocious puberty, A...	ORPHA:786
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Budd-Chiari syndrome, Bone...	OMIM:127550
Meconium Aspiration Syndrome	Pneumothorax, Pulmonary insufficiency, Atelectasis, Aspiration pneumonia, Pulmonary arterial hype...	ORPHA:70588
Absence Of The Pulmonary Artery	Abnormal heart morphology, Cardiomegaly, Abnormal cardiac septum morphology, Patent foramen ovale...	ORPHA:980
Smith-Kingsmore Syndrome	Rhizomelia, Decreased circulating IgA level, Thrombocytopenia, Cryptorchidism	OMIM:616638
Pyruvate Dehydrogenase E1-Alpha Deficiency	Flexion contracture, Ventricular septal defect, Recurrent aspiration pneumonia, Small for gestati...	ORPHA:79243
Ciliary Dyskinesia, Primary, 34	Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis	OMIM:617091
Surfactant Metabolism Dysfunction, Pulmonary, 3	Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Crazy paving pattern, ...	OMIM:610921
46,Xx Sex Reversal 1	Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis...	OMIM:400045
Glycogen Storage Disease Xii	Delayed puberty, Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bi...	OMIM:611881
Igg4-Related Thyroid Disease	Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Thyroiditis, Abnormal pituitary gland mor...	ORPHA:64744
Blau Syndrome	Large vessel vasculitis, Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Skin rash, ...	ORPHA:90340
Pulmonary Alveolar Proteinosis, Acquired	Lung abscess, Intraalveolar phospholipid accumulation, Pneumonia, Recurrent respiratory infection...	OMIM:610910
Orofaciodigital Syndrome Viii	Short stature, Recurrent aspiration pneumonia	OMIM:300484
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Mucopolysaccharidosis, Type Vi	Pulmonary insufficiency, Hepatomegaly, Reduced leukocyte arylsulfatase B activity, Sinus tachycar...	OMIM:253200
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Sepsis, Anemia, Recurrent infections, Decreased circulating antibody level, Growth delay, Recurre...	ORPHA:79396
Sitosterolemia 1	Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, Arthritis, Epis...	OMIM:210250
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:567983
Cystic Fibrosis	Cirrhosis, Hepatomegaly, Pancreatitis, Biliary cirrhosis, Recurrent bronchopulmonary infections, ...	OMIM:219700
Infantile Systemic Hyalinosis	Growth delay, Severe short stature, Telangiectasia of the skin, Aplasia/Hypoplasia of the thymus,...	ORPHA:2176
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
H Syndrome	Delayed puberty, Enlarged kidney, Abnormal cardiovascular system physiology, Lymphadenopathy, Rec...	ORPHA:168569
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Postnatal growth retardation, Decreased response to growth hormone stimulation test, Congenital h...	OMIM:241410
Sporadic Creutzfeldt-Jakob Disease	Recurrent infections, Sepsis, Recurrent aspiration pneumonia	ORPHA:204
Tick-Borne Encephalitis	Abnormal circulating cytokine concentration, Elevated circulating hepatic transaminase concentrat...	ORPHA:297
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Hemorrhagic Fever-Renal Syndrome	Hematemesis, Elevated circulating hepatic transaminase concentration, Hypertension, Epistaxis, In...	ORPHA:340
Congenital Fiber-Type Disproportion Myopathy	Ankle flexion contracture, Knee flexion contracture, Weakness of facial musculature, Hypoplasia o...	ORPHA:2020
Viss Syndrome	Pneumothorax, Pulmonary artery aneurysm, Epidural hemorrhage, Emphysema, Increased circulating Ig...	OMIM:619472
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Hennekam-Beemer Syndrome	Hypotension, Mastocytosis, Short stature, Telangiectasia of the skin, Arrhythmia, Pneumonia	ORPHA:2135
Dubowitz Syndrome	Aplastic anemia, Postnatal growth retardation, Recurrent infections, Eczematoid dermatitis, Short...	OMIM:223370
46,Xy Partial Gonadal Dysgenesis	Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitoral hypertrophy, A...	ORPHA:251510
Gapo Syndrome	Amenorrhea, Dysmenorrhea, Oligozoospermia, Hypogonadism	ORPHA:2067
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Reduced hematocrit, Anemia of inadequate production, Hypertrophic cardiomyo...	OMIM:613673
Hereditary Amyloidosis With Primary Renal Involvement	Male infertility, Primary testicular failure, Oligozoospermia, Abnormal testis morphology, Hypogo...	ORPHA:85450
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Cystic Fibrosis	Pneumothorax, Nontuberculous mycobacterial pulmonary infection, Cirrhosis, Elevated circulating h...	ORPHA:586
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	ORPHA:415
Proximal Spinal Muscular Atrophy	Distal lower limb muscle weakness, Weakness of facial musculature, Bradycardia, Facial diplegia, ...	ORPHA:70
Plague	Hematemesis, Carbuncle, Hepatomegaly, Sepsis, Inflammatory abnormality of the eye, Acute infectio...	ORPHA:707
Trichothiodystrophy 1, Photosensitive	Recurrent infections, Short stature, Decreased circulating IgG level, Erythroderma, Keratoconjunc...	OMIM:601675
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Incr...	ORPHA:3203
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Bronchiectasis, Situs inversus totalis	OMIM:615434
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Enlarged kidney, Hypertension, Cholestasis, Ascites, Biliary hyperpl...	ORPHA:731
Trichothiodystrophy	Anemia, Panhypogammaglobulinemia, Increased mean corpuscular hemoglobin concentration, Recurrent ...	ORPHA:33364
Cirrhosis, Familial	Cirrhosis, Jaundice, Fulminant hepatitis, Hypertension, Ascites, Pulmonary arterial hypertension,...	OMIM:215600
Gaucher Disease, Type Ii	Hepatomegaly, Anemia, Bronchiolitis, Thrombocytopenia, Recurrent aspiration pneumonia, Splenomegaly	OMIM:230900
Acute Liver Failure	Gastrointestinal hemorrhage, Jaundice, Elevated circulating hepatic transaminase concentration, S...	ORPHA:90062
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Impaired ristocetin-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Incr...	OMIM:153670
Orotic Aciduria	Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia...	OMIM:258900
Cleft Velum	Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
Alg9-Cdg	Abnormal lung lobation, Atrial septal defect, Hepatomegaly, Torticollis, Periportal fibrosis, Abn...	ORPHA:79328
Acute Radiation Syndrome	Hypotension, Inflammatory abnormality of the skin, Thrombocytopenia, Lymphopenia, Interstitial pn...	ORPHA:454831
Liver Disease, Severe Congenital	Elevated circulating hepatic transaminase concentration, Lymphocytosis, Ascites, Biliary hyperpla...	OMIM:619991
Japanese Encephalitis	Pulmonary edema, Increased circulating antibody level, Increased circulating IgM level, Neutrophi...	ORPHA:79139
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Seborrheic dermatitis, Ascites, Aspiration pneumonia, Short stature, Thrombocytopen...	OMIM:301072
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Recurrent pneumonia, Abnormal heart morphology, Aspiration pneumonia	ORPHA:314655
Diarrhea 10, Protein-Losing Enteropathy Type	Decreased circulating antibody level, Pleural effusion, Ascites, Hematochezia, Recurrent upper re...	OMIM:618183
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Failure to thrive, Pancreatitis, Aspiration pneumonia	ORPHA:431361
Chops Syndrome	Patent foramen ovale, Ventricular septal defect, Aspiration pneumonia, Obesity, Splenomegaly, Ano...	OMIM:616368
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Decreased circulating antibody level	OMIM:604928
Digeorge Syndrome	Recurrent otitis media, Anemia, Atelectasis, Cholelithiasis, Recurrent infections, Seborrheic der...	OMIM:188400
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level	ORPHA:457485
Gm1 Gangliosidosis Type 1	Cardiomyopathy, Aspiration pneumonia, Hepatosplenomegaly, Decreased beta-galactosidase activity, ...	ORPHA:79255
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss, Aspiration pneumonia	ORPHA:216866
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Pancytopenia, Abnormal circulating enzyme concentration or activity, Recurr...	ORPHA:309282
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Reynolds Syndrome	Gastrointestinal hemorrhage, Jaundice, Palmar telangiectasia, Hepatomegaly, Elevated circulating ...	OMIM:613471
Cushing Disease	Decreased eosinophil count, Hypertension, Lymphopenia, Leukocytosis, Capillary fragility, Adrenal...	ORPHA:96253
Neuroleptic Malignant Syndrome	Sepsis, Elevated circulating hepatic transaminase concentration, Thrombocytosis, Bradycardia, Hyp...	ORPHA:94093
Cartilage-Hair Hypoplasia	Hepatomegaly, Heart block, Anemia, Disproportionate short-limb short stature, Rhizomelia, Decreas...	ORPHA:175
Mucopolysaccharidosis Type 3	Chronic otitis media, Hepatomegaly, Abnormal aortic valve morphology, Cardiomegaly, Recurrent ton...	ORPHA:581
Progeroid Short Stature With Pigmented Nevi	Delayed puberty, Impaired T cell function, Aortic valve stenosis, Short stature, Recurrent viral ...	OMIM:176690
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Postnatal growth retardation, Hepatic hemangioma, Hepatomegaly, Elevated circulating hepatic tran...	ORPHA:73230
Occipital Horn Syndrome	Jaundice, Recurrent urinary tract infections, Cholestasis, Esophagitis, Hepatitis	ORPHA:198
Roifman-Chitayat Syndrome	Pneumonia, Arthritis	OMIM:613328
Alström Syndrome	Elevated circulating hepatic transaminase concentration, Hypertension, Recurrent cystitis, Recurr...	ORPHA:64
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal female external genitalia morphology, Hypospadias, Abnormal ovarian morphology, Abnormal...	ORPHA:95699
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased liver function, Delayed puberty, Cirrhosis, Hepatomegaly, Abnormal pulmonary interstiti...	ORPHA:77293
Pulmonary Alveolar Microlithiasis	Pneumothorax, Hepatomegaly, Pleural thickening, Bronchitis, Mitral valve calcification, Right ven...	ORPHA:60025
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Pancreatic adenocarcinoma, Small cell lung carcinoma, Decreased e...	ORPHA:99889
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Neonatal sepsis, Jaundice, Adrenal hyperplasia, Pneumonia, Macroorchidism	ORPHA:90790
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Ventricular septal defect, Recurrent pneumonia, Recurrent aspiration pneumonia	OMIM:300472
Severe Acute Respiratory Syndrome	Acute infectious pneumonia	ORPHA:140896
Monosomy 18Q	Congestive heart failure, Left-to-right shunt, Bilateral cryptorchidism, Aortic valve stenosis, S...	ORPHA:1600
Velocardiofacial Syndrome	Hypoparathyroidism, Recurrent infections, Pulmonary artery atresia, Impaired T cell function, Sho...	OMIM:192430
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Oligozoospermia, Clitoral hypoplasia	OMIM:614813
Cutis Laxa, Autosomal Recessive, Type Ib	Congenital diaphragmatic hernia, Pulmonary insufficiency, Pulmonary artery aneurysm, Emphysema, B...	OMIM:614437
Geleophysic Dysplasia 3	Pneumonia, Hepatomegaly, Mitral regurgitation, Short stature	OMIM:617809
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Severe postnatal growth retardation, Parathyroid hypoplasia, Abnormality of T...	ORPHA:2237
Cutis Laxa, Autosomal Dominant 1	Congestive heart failure, Emphysema, Aortic regurgitation, Mitral regurgitation, Bronchiectasis, ...	OMIM:123700
Amoebiasis Due To Free-Living Amoebae	Increased red blood cell count, Myocardial necrosis, Facial palsy, Sinusitis, Pustule, Respirator...	ORPHA:68
Degcags Syndrome	Hepatomegaly, Anemia, Iron deficiency anemia, Tachycardia, Pancytopenia, Recurrent urinary tract ...	OMIM:619488
Heterotaxy, Visceral, 2, Autosomal	Polysplenia, Abdominal situs inversus, Asplenia	OMIM:605376
Infantile Neuroaxonal Dystrophy	Increased circulating lactate dehydrogenase concentration, Aspiration pneumonia	ORPHA:35069
Right Atrial Isomerism	Abdominal situs ambiguus, Polysplenia, Asplenia	OMIM:208530
Combined Oxidative Phosphorylation Deficiency 25	Intraventricular hemorrhage, Failure to thrive, Aspiration pneumonia	OMIM:616430
Severe Generalized Junctional Epidermolysis Bullosa	Gastrointestinal inflammation, Pneumothorax, Sepsis, Pyoderma, Anemia, Bradycardia, Recurrent uri...	ORPHA:79404
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Cheilitis, Recurrent infections, Episcleritis, Eczematoid dermatitis, Blepharitis, Cryptorchidism...	ORPHA:2273
Mosaic Trisomy 9	Intrauterine growth retardation, Abnormal liver lobulation, Asplenia	ORPHA:99776
Orofaciodigital Syndrome Ix	Short stature, Recurrent aspiration pneumonia	OMIM:258865
Tetrasomy 9P	Jaundice, Dextrocardia, Biliary atresia, Myositis, Arthritis, Abnormal cardiac septum morphology,...	ORPHA:3310
Cardiofacioneurodevelopmental Syndrome	Abdominal situs inversus, Asplenia	OMIM:619123
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Aspiration pneumonia, Failure to thrive, Keratitis, Tracheobronchial leiomyomatosis, Weight loss,...	ORPHA:1018
Aymé-Gripp Syndrome	Pericardial effusion, Pericarditis, Congenital diaphragmatic hernia, Camptodactyly	ORPHA:1272
Miller-Dieker Lissencephaly Syndrome	Camptodactyly, Failure to thrive, Abnormal heart morphology, Recurrent aspiration pneumonia, Join...	OMIM:247200
Niemann-Pick Disease Type C	Jaundice, Hepatomegaly, Bone-marrow foam cells, Ascites, Aspiration pneumonia, Abnormal lung morp...	ORPHA:646
22Q11.2 Deletion Syndrome	Chronic otitis media, Abnormal lung lobation, Gastrointestinal hemorrhage, Corneal neovasculariza...	ORPHA:567
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Rhizomelia, Disproportionate short-limb short stature, Neutropenia	OMIM:271510
Marshall-Smith Syndrome	Hypertension, Decreased body weight, Dysplastic aortic valve, Aspiration pneumonia, Pulmonary art...	OMIM:602535
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Reduced hematocrit, Increased circulating antibody level, Normochromic anemia,...	ORPHA:91500
Hereditary Sensory And Autonomic Neuropathy Type 4	Anemia, Recurrent Staphylococcus aureus infections, Abnormality of humoral immunity, Tooth absces...	ORPHA:642
Cornelia De Lange Syndrome 1	Hypoplastic nipples, Duplication of internal organs, Short stature, Thrombocytopenia, Otitis medi...	OMIM:122470
Coffin-Siris Syndrome	Postnatal growth retardation, Recurrent infections, Aspiration pneumonia, Growth delay, Recurrent...	ORPHA:1465
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating antibody level, Decreased circulating IgA ...	OMIM:617062
Distal Deletion 19P	Decreased circulating antibody level	ORPHA:96129
Sweeney-Cox Syndrome	Asplenia	OMIM:617746
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Aortic valve stenosis, Failure to...	ORPHA:353281
Mercury Poisoning	Tachycardia, Interstitial pneumonitis, Hypertension, Hypotension	ORPHA:330021
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Rhizomelic leg shortening, Elevated circulating hepatic transaminase concentration, Rhizomelic ar...	ORPHA:397715
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Annular pancreas, Asplenia	ORPHA:210122
X-Linked Dystonia-Parkinsonism	Aspiration pneumonia	ORPHA:53351
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Short stature, Asplenia	OMIM:619657
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Gastrointestinal inflammation, Sepsis, Anemia, Elevated circulating hepatic transaminase concentr...	ORPHA:95455
Sponastrime Dysplasia	Rhizomelia, Disproportionate short-limb short stature, Decreased circulating antibody level, Recu...	ORPHA:93357
Carney Complex	Testicular neoplasm, Ovarian dermoid cyst, Decreased fertility in males, Oligozoospermia, Ovarian...	ORPHA:1359
Lissencephaly Due To Lis1 Mutation	Aspiration pneumonia	ORPHA:95232
Ayme-Gripp Syndrome	Pericarditis, Camptodactyly	OMIM:601088
Meckel Syndrome, Type 1	Accessory spleen, Asplenia, Bile duct proliferation, Splenomegaly, Intrauterine growth retardatio...	OMIM:249000
Tay-Sachs Disease	Hip flexor weakness, Aspiration pneumonia, Skeletal muscle atrophy, Quadriceps muscle atrophy, Lo...	ORPHA:845
Cholera	Tachycardia, Hypovolemic shock, Hypotension, Aspiration pneumonia	ORPHA:173
Bickerstaff Brainstem Encephalitis	Pneumonia, Respiratory tract infection, Recurrent gastroenteritis, Severe infection	ORPHA:79138
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Congestive heart failure, Patent foramen ovale, Pulmonary arterial hypertension, Aspiration pneum...	ORPHA:444077
Fontaine Progeroid Syndrome	Pneumothorax, Hypoplasia of the abdominal wall musculature, Pulmonary arterial hypertension, Tric...	OMIM:612289
Feingold Syndrome 1	Asplenia, Annular pancreas, Polysplenia, Accessory spleen	OMIM:164280
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Patent foramen ovale, Abnormal heart morphology, Recurrent aspir...	ORPHA:2745
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Atrial septal defect, Patent foramen ovale, Pulmonic stenosis, Aortic valv...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Atrial septal defect, Patent foramen ovale, Pulmonic stenosis, Aortic valv...	ORPHA:353277
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Flexion contracture of toe, Patent foramen ovale, Pulmonary arterial hypertension, Blepharitis, R...	ORPHA:280633
Meckel Syndrome	Accessory spleen, Asplenia, Congenital hepatic fibrosis, Cystic liver disease, Pancreatic fibrosi...	ORPHA:564
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Ischemic stroke, Emphysema, Recurrent infections, Transient ischemic attack, Secretory IgA defici...	ORPHA:500150
Adult-Onset Autosomal Dominant Leukodystrophy	Recurrent urinary tract infections, Orthostatic hypotension, Aspiration pneumonia	ORPHA:99027
Wiedemann-Rautenstrauch Syndrome	Hypoplasia of the thymus, Short stature, Pneumonia, Recurrent respiratory infections, Cryptorchid...	OMIM:264090
Arboleda-Tham Syndrome	Chronic otitis media, Atrial septal defect, Recurrent otitis media, Lower limb amyotrophy, Pulmon...	OMIM:616268
Alobar Holoprosencephaly	Aspiration pneumonia, Failure to thrive, Abnormal heart morphology, Flexion contracture, Abnormal...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Aspiration pneumonia, Failure to thrive, Abnormal heart morphology, Flexion contracture, Abnormal...	ORPHA:93926
Lobar Holoprosencephaly	Aspiration pneumonia, Failure to thrive, Abnormal heart morphology, Flexion contracture, Abnormal...	ORPHA:93924
Semilobar Holoprosencephaly	Aspiration pneumonia, Failure to thrive, Abnormal heart morphology, Flexion contracture, Abnormal...	ORPHA:220386
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Biliary atresia, Polysplenia, Asplenia, Abdominal situs inversus	OMIM:306955
Heterotaxy, Visceral, 5, Autosomal	Intrauterine growth retardation, Abdominal situs ambiguus, Abdominal situs inversus, Asplenia	OMIM:270100
Pseudoaminopterin Syndrome	Short stature, Asplenia	ORPHA:221120
Kabuki Syndrome 1	Postnatal growth retardation, Recurrent otitis media, Recurrent infections, Short stature, Growth...	OMIM:147920
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Annular pancreas, Neonatal death, Pulmonary lymphangiectasia, Asplenia	OMIM:265380
Patent Urachus	Cystocele, Recurrent urinary tract infections, Recurrent gram-negative bacterial infections	ORPHA:431341
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Anemia, Patent foramen ovale, Aspiration pneumonia, Pulmonic stenosis, Abnormal heart morphology,...	ORPHA:438213
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Recurrent otitis media, Recurrent infections, Decreased circulating antibody level, Asplenia, Pul...	ORPHA:261537
Mowat-Wilson Syndrome	Recurrent otitis media, Recurrent infections, Decreased circulating antibody level, Asplenia, Pul...	ORPHA:2152
Pmm2-Cdg	Abnormal liver parenchyma morphology, Elevated circulating hepatic transaminase concentration, An...	ORPHA:79318
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Recurrent otitis media, Recurrent infections, Decreased circulating antibody level, Asplenia, Hyp...	ORPHA:261552
Tetraamelia Syndrome 1	Asplenia	OMIM:273395
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Sinus bradycardia, Aspiration pneumonia	OMIM:619482
Doors Syndrome	Adrenal hyperplasia, Thrombocytosis, Aspiration pneumonia	ORPHA:79500
Yunis-Varon Syndrome	Severe failure to thrive, Patent foramen ovale, Cardiomyopathy, Aspiration pneumonia, Pulmonary a...	OMIM:216340
Lafora Disease	Recurrent aspiration pneumonia, Hepatic failure	ORPHA:501

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 Bcl6

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 Bcl6.

There are 3 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Interferon-γ production by Tfh cells is required for CXCR3⁺ pre-memory B cell differentiation and subsequent lung-resident memory B cell responses.	Immunity (September 2023)	Bcl6^{tm1a(EUCOMM)Wtsi}	37699392
Spatiotemporal resolution of germinal center Tfh cell differentiation and divergence from central memory CD4⁺ T cell fate.	Nature communications (June 2023)	Bcl6^{tm1c(EUCOMM)Wtsi}	PMC10276816
IFNAR1 signaling in NK cells promotes persistent virus infection.	Science advances (March 2021)	Bcl6^{tm1a(EUCOMM)Wtsi}	PMC7997497

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
Bcl6^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, 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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