Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
RAR-related orphan receptor gamma
Synonyms:
RORgamma,  thymus orphan receptor,  Thor

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Rorc 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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622

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

</
Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Recurrent bacterial infections, Decreased circulating total IgM,... OMIM:613494
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... OMIM:615897
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Decreased ... OMIM:618987
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Recurrent bacterial infections,... OMIM:613500
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Persistent Polyclonal B-Cell Lymphocytosis
Recurrent infections, Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level, T ... OMIM:242870
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... OMIM:613493
Reticular Dysgenesis
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impaired T cell function, Leukope... OMIM:267500
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Immunodeficiency 105
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Hepatosplenomegaly... OMIM:619924
Immunodeficiency 11
Decreased circulating antibody level, Recurrent respiratory infections OMIM:615206
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Recurrent otitis media, Decreased circulating IgG level, Decreas... OMIM:613502
Combined Cellular And Humoral Immune Defects With Granulomas
Recurrent respiratory infections, Decreased circulating IgG level, B lymphocytopenia, T lymphocyt... OMIM:233650
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... OMIM:618261
Immunodeficiency 18
Recurrent gastroenteritis, Defective T cell proliferation, Lymphopenia, Recurrent otitis media, D... OMIM:615615
Immunodeficiency 40
Lymphopenia OMIM:616433
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Decreased cir... OMIM:618944
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections OMIM:146830
Immunodeficiency 50
Lymphopenia, Recurrent urinary tract infections, Decreased circulating antibody level, Neutropeni... OMIM:300988
Immunodeficiency 48
Absence of CD8-positive T cells, Panhypogammaglobulinemia, Hepatomegaly, Splenomegaly OMIM:269840
Immunodeficiency 76
Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Ch... OMIM:619164
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level, Recurrent infections OMIM:616911
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Splenomegaly, Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Hypersplenism OMIM:183350
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Recurrent infections, B lymphocytopenia, Recurrent otitis media OMIM:616941
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Recurrent fungal infections, Decreased circulating IgG level, Ch... OMIM:300400
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... OMIM:619824
Immunodeficiency 14A, Autosomal Dominant
Recurrent sinopulmonary infections, Splenomegaly, Decreased specific pneumococcal antibody level,... OMIM:615513
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level, Recurrent respiratory infections OMIM:137050
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... OMIM:607271
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia OMIM:610798
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati... OMIM:616636
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Recurrent infections, Recurrent respiratory infections OMIM:615214
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent infection of the gastrointestinal tract, Lymphadenitis, Recurrent opportunistic infecti... ORPHA:911
Transcobalamin Deficiency
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre... ORPHA:859
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Recurrent si... OMIM:618969
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Neutropenia i... OMIM:301082
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with ... OMIM:617006
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Cernunnos-Xlf Deficiency
Lymphopenia, Recurrent bacterial infections, B lymphocytopenia, T lymphocytopenia, Decreased circ... ORPHA:169079
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proportion of C... OMIM:617241
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec... OMIM:619281
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... OMIM:618204
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Neutropenia, Recurrent bacterial infections, Diarrhea, Recurrent bronchitis, R... OMIM:613501
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 84
Splenomegaly, Recurrent bacterial infections, B lymphocytopenia, Perianal abscess, Persistent EBV... OMIM:619437
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Recurren... OMIM:605258
Immunodeficiency, Common Variable, 11
Crohn's disease, Failure to thrive, Decreased circulating IgG level, Mucoid diarrhea, Inflammatio... OMIM:615767
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level, Recurrent infections OMIM:614102
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Recurrent bronchitis, Decreased proportion of CD4-p... OMIM:312863
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 37
Colitis, Decreased circulating antibody level, Recurrent infections, Infectious encephalitis, Dec... OMIM:616098
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:611926
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Abnormal lymphocyte morphology, Recurrent sinopulmonary infectio... OMIM:609529
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Failure to thrive, Sinusitis, Inflammatory abnormality of the skin, Lymp... ORPHA:277
Immunodeficiency 95
Lymphopenia, Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections... OMIM:619773
Bare Lymphocyte Syndrome, Type Ii
Recurrent protozoan infections, Panhypogammaglobulinemia, Recurrent viral infections, Cutaneous a... OMIM:209920
Immunodeficiency 104
Gastroesophageal reflux, Otitis media, Splenomegaly, Eczema, Diarrhea, Recurrent opportunistic in... OMIM:608971
Immunodeficiency 57 With Autoinflammation
Failure to thrive, Gastritis, Skin rash, Diarrhea, B lymphocytopenia, T lymphocytopenia, Inflamma... OMIM:618108
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Thrombocytope... OMIM:614493
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis, Autoimmune antibody positivity ORPHA:60026
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level, Recurrent infections OMIM:235900
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Failure to thrive, Neutropenia, Recurrent bacterial infections, Recurrent otitis media, Recurrent... OMIM:616022
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Polyclonal elevation of IgM... OMIM:153600
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Persistent CMV viremia, Medi... OMIM:300853
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... OMIM:619510
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Recurrent infections... OMIM:618982
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Eczema, Diarrhea, Decreased proportion of CD4+CD25+ regulatory T cells, Monocyt... OMIM:619802
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Decreased circulating IgA level, Decreased lymphocyte proliferation in res... ORPHA:331206
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Absent specific antibody response, Autoimmune thrombocytopenia, Decreased proportion... OMIM:619846
Immunodeficiency 64
Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low B cells, Anti-... OMIM:618534
Myelolymphatic Insufficiency
Recurrent bacterial infections, Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent vira... OMIM:310350
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc... OMIM:618394
Immunodeficiency 96
Increased mean corpuscular volume, Decreased circulating IgA level, Decreased circulating IgG lev... OMIM:619774
Lymphoproliferative Syndrome, X-Linked, 2
Colitis, Folliculitis, Hemophagocytosis, Splenomegaly, Recurrent skin infections, Aplastic anemia... OMIM:300635
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati... ORPHA:572
Immunodeficiency 61
Malabsorption, Frequent Giardia lamblia infestation, Recurrent bacterial infections, Arthritis, R... OMIM:300310
Thymic Aplasia
Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,... ORPHA:83471
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... ORPHA:169154
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent gastroenteritis, Recurrent mycobacterial infections, Decreased circulating IgA level, R... ORPHA:275
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Neutropenia, Recurrent ... OMIM:614868
Immunodeficiency 52
Failure to thrive, Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemo... OMIM:617514
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Hemophagocytosis, Splenomegaly, Abnormal natural killer cell physiology, Hepatosplenomeg... OMIM:613101
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Bloody diarrhea, Leukocytosis, Ulcerative colitis OMIM:619398
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections,... OMIM:608184
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Immune Deficiency Disease
Recurrent viral infections, Recurrent bacterial infections, Decreased circulating total IgM OMIM:242850
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating antibody level, Pancytop... OMIM:616873
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent fungal infections, Eosinophilia, Decreased circulating total IgM, Recurrent bacterial i... OMIM:243700
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Proteasome-Associated Autoinflammatory Syndrome 2
Failure to thrive, Increased circulating IgA level, Skin rash, Abnormal circulating IgM level, Re... OMIM:618048
Immunodeficiency, Common Variable, 8, With Autoimmunity
Sepsis, B lymphocytopenia, Decreased specific antibody response to vaccination, Uveitis, Pneumoni... OMIM:614700
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Sepsis, Diarrhea, Recurrent opportunistic infections, Pneumonia, Recurrent Haemophilus influenzae... ORPHA:276
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Lymphopenia, ... ORPHA:35078
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr... OMIM:619705
Immunodeficiency 33
Recurrent bacterial infections, Increased circulating IgA level, Decreased circulating total IgM OMIM:300636
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Lymphopenia, Skin rash, Anterior uveitis, Hemolytic anemia, Ileal ulcer, Lupus anticoagu... OMIM:616744
Immunodeficiency 7
Lymphadenopathy, Autoimmunity, Hypereosinophilia OMIM:615387
Immunodeficiency 36
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Enlarged tonsils, ... OMIM:616005
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Recurrent inf... OMIM:137100
Ficolin 3 Deficiency
Necrotizing enterocolitis, Recurrent abscess formation, Recurrent lower respiratory tract infecti... OMIM:613860
Masp2 Deficiency
Systemic lupus erythematosus, Recurrent pneumonia, Ulcerative colitis OMIM:613791
Reticular Dysgenesis
Failure to thrive, Malabsorption, Skin rash, Leukopenia, Diarrhea, Sepsis, Chronic otitis media, ... ORPHA:33355
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Onychomycosis, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Lymphadenitis, ... OMIM:618935
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Decreased lymphocyte proliferation in response to anti-CD3, Increased circulating ferritin concen... OMIM:619313
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o... OMIM:240500
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Tn Polyagglutination Syndrome
Autoimmunity, Abnormal erythrocyte morphology OMIM:300622
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Systemic lupus erythematosus, Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic a... ORPHA:444463
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Recurrent upper and lower respiratory trac... ORPHA:70593
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Recurrent opportunistic infections, B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopeni... OMIM:601457
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Decreased circulating total IgM, Bronchiolitis, Decreased propor... OMIM:614878
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Eczema, B lymphocytopenia, Erythroderma, Recurrent viral infections, Decreased proportion of CD4+... OMIM:606367
Selective Igm Deficiency
Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Otitis media, Stomac... ORPHA:331235
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Omenn Syndrome
Hepatomegaly, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lym... OMIM:603554
Mannose-Binding Lectin Deficiency
Failure to thrive, Recurrent skin infections, Recurrent Klebsiella infections, Recurrent meningoc... OMIM:614372
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L... OMIM:615285
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Systemic lupus erythematosus, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thromboc... OMIM:619375
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Splenomegaly, Decr... OMIM:616100
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... ORPHA:2643
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... OMIM:619752
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Bloody diarrhea, Colonic atresia, Jejunal atresia, Recurrent respiratory infections... OMIM:243150
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Immunodeficiency 54
Adrenal insufficiency, Adrenocorticotropic hormone excess, Splenomegaly, Lymphadenopathy, Reduced... OMIM:609981
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr... OMIM:611521
Immunodeficiency 25
Recurrent candida infections, Increased circulating IgA level, Eosinophilia, Increased circulatin... OMIM:610163
Immunodeficiency 20
Reduced natural killer cell activity, Reduced natural killer cell count OMIM:615707
Mantle Cell Lymphoma
Splenomegaly, Anorexia, Abnormality of the gastrointestinal tract, Weight loss, Lymphadenopathy ORPHA:52416
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Absent peripheral lymph ... OMIM:600802
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Autoinflammation With Infantile Enterocolitis
Failure to thrive, Enterocolitis, Skin rash, Splenomegaly, Episodic vomiting, Reduced natural kil... OMIM:616050
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Lymphocytic interstitial pneumonia, Splenomegaly, Diarrhea, Recurrent urinary ... OMIM:618495
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Autoimmune Lymphoproliferative Syndrome, Type Iii
Absent isohemagglutinin level, Increased proportion autoreactive unresponsive CD21-/low B cells, ... OMIM:615559
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:601859
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Gastritis, Eczema, Sepsis, Vomiting, Anti-thyroid peroxidase antibody ... ORPHA:37042
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyper... OMIM:614470
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... OMIM:251190
Carcinoma Of Esophagus
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Weight loss, Dysphagia, Obesity,... ORPHA:70482
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocy... OMIM:607624
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
Immunodeficiency 8
Lymphopenia OMIM:615401
Cyclic Neutropenia
Periodontitis, Sinusitis, Lymphopenia, Enterocolitis, Abdominal pain, Otitis media, Cervical lymp... ORPHA:2686
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, ... ORPHA:100024
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Decre... OMIM:615139
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt... OMIM:301081
Inflammatory Bowel Disease 28, Autosomal Recessive
Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Hematochezia, Perianal abscess OMIM:613148
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Isolated Agammaglobulinemia
Failure to thrive, Malabsorption, Sinusitis, Skin rash, Otitis media, Sepsis, Diarrhea, Abnormali... ORPHA:229717
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Hepatic failure, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, ... ORPHA:2442
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Chronic gastritis, Failure to thrive, Colitis, Decreased circulating IgG level, Eczema, Diarrhea,... OMIM:608809
Immunodeficiency 31C
Lymphopenia, Eczema, Diarrhea, Hypothyroidism, Villous atrophy, Chronic mucocutaneous candidiasis... OMIM:614162
Pgm3-Cdg
High palate, Abnormal proportion of CD8-positive T cells, Eczema, Sepsis, Rheumatoid factor posit... ORPHA:443811
Adult Idiopathic Neutropenia
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact... ORPHA:2688
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Agammaglobulinemia 1, Autosomal Recessive
Failure to thrive, Recurrent otitis media, Recurrent enteroviral infections, Recurrent bacterial ... OMIM:601495
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Failure to thrive, Lymphocytosis, Decreased mean platelet volume, Inflammation of the large intes... OMIM:617718
Immunodeficiency 17
Recurrent gastroenteritis, Failure to thrive, Recurrent otitis media, Anoperineal fistula, Chroni... OMIM:615607
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Agammaglobulinemia, X-Linked
Decreased circulating IgA level, Recurrent otitis media, Decreased circulating IgG level, Enterov... OMIM:300755
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Recurrent bacterial infections, Hyposegmentation of neutrophil nuc... OMIM:245480
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent candida infections, Increased circulating antibody level, Decreased lymphocyte prolifer... ORPHA:169160
Immunodeficiency 46
Chronic oral candidiasis, Sepsis, Decreased circulating antibody level, Intermittent thrombocytop... OMIM:616740
Whim Syndrome 1
Decreased circulating IgG level, Recurrent bacterial infections, Recurrent upper respiratory trac... OMIM:193670
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Immunodeficiency 68
Lymphadenitis, Abscess, B lymphocytopenia, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent bacterial infections, Abnormality of T cell physiology,... OMIM:308220
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating IgA level, Recurrent fungal infections, Lymphopenia, Splenomegaly, Aplasia ... OMIM:102700
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Sinusitis, Neutropenia in presence of ... OMIM:613179
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor ex... OMIM:602450
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Kimura Disease
Eosinophilia, Follicular hyperplasia, Abnormal salivary gland morphology, Increased circulating I... ORPHA:482
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent candida infections, Onychomycosis, Recurrent bacterial skin infections, Atopic dermatit... ORPHA:217390
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased lymphocyte proliferation in response to anti-CD3, Partial absence of specific antibody ... OMIM:618986
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Anorexia, Hepatospleno... OMIM:209950
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Lymphadenopathy OMIM:616126
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Gastrointestinal hemorrhage, Lymphadenopathy, Smooth muscle antibody ... OMIM:603909
Immunodeficiency 15B
Agammaglobulinemia, Decreased circulating antibody level OMIM:615592
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... OMIM:618806
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... ORPHA:2585
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... OMIM:242700
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Colitis, Sterile abscess, Hepatosplenomegaly, Arthritis, Acne, Thrombocytosis, Micro... OMIM:604416
Autosomal Dominant Severe Congenital Neutropenia
Recurrent infection of the gastrointestinal tract, Diarrhea, Aplastic anemia, Pneumonia, Recurren... ORPHA:486
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Sepsis, Diarrhea, Absence of lymph node germinal center, Decre... OMIM:308230
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... OMIM:617780
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Colitis, Lymphocytosis, Abdominal pain, Skin rash, Diarrhea, Inflammation of t... OMIM:301074
X-Linked Agammaglobulinemia
Sepsis, Abnormality of the tonsils, Weight loss, Malabsorption, Osteomyelitis, Arthritis, Hepatit... ORPHA:47
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Eczema, Neutropenia, Decreased CD4:CD8 ratio, Monocytopenia OMIM:300299
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... OMIM:202700
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Elev... OMIM:308240
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level, Recurrent infections, Decreased proportion of CD4-positive ... OMIM:301045
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Gastritis, Rheumatoid factor positive, Uveitis, Bone... ORPHA:3261
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Agammaglobulinemia 9, Autosomal Recessive
Failure to thrive, Eczematoid dermatitis, Recurrent bacterial infections, Absent circulating B ce... OMIM:619693
Autoinflammation With Episodic Fever And Lymphadenopathy
Splenomegaly, Recurrent tonsillitis, Rheumatoid factor positive, Microcytic anemia, Antinuclear a... OMIM:618852
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Lymphopenia, Recurrent infections, Splenomegaly OMIM:605309
Kerion Celsi
Lymphadenopathy, Recurrent cutaneous abscess formation ORPHA:499
Pfapa Syndrome
Malabsorption, Abdominal pain, Splenomegaly, Arthritis, Weight loss, Recurrent pharyngitis, Infec... ORPHA:42642
Acute Erythroid Leukemia
Leukopenia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Anemia ORPHA:318
Autoinflammation, Immune Dysregulation, And Eosinophilia
Failure to thrive, Eosinophilic liver infiltration, Eosinophilia, Hepatosplenomegaly, Atopic derm... OMIM:618999
Immunodeficiency 82 With Systemic Inflammation
Gastritis, Diarrhea, Vomiting, B lymphocytopenia, Pneumonia, Weight loss, Decreased proportion of... OMIM:619381
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Pancytopenia, ... ORPHA:158057
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Decr... ORPHA:183675
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Bone Marrow Failure Syndrome 2
Bone marrow hypocellularity, Leukopenia, Anemia, Thrombocytopenia OMIM:615715
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocolitis, Folliculitis, Pancolitis, Recurrent bronchitis, Perianal abscess, Rectovaginal fis... OMIM:612567
Felty Syndrome
Sepsis, Bone marrow hypocellularity, Pericarditis, Rhinitis, Weight loss, Lymphadenopathy, Spleno... ORPHA:47612
Burkitt Lymphoma
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Decreased... ORPHA:543
Immunodeficiency 58
Onychomycosis, Eczema, Helicobacter pylori infection, Decreased specific antibody response to vac... OMIM:618131
Immunodeficiency 13
Lymphopenia, Recurrent upper respiratory tract infections, B lymphocytopenia, T lymphocytopenia, ... OMIM:615518
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Decreased circulating IgG level, Elevated circulati... OMIM:613011
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Decreased circulating antibody level, Leukocytosis, Splenomegaly OMIM:618042
Immunodeficiency, Common Variable, 10
Onychomycosis, Decreased circulating IgA level, Decreased circulating IgG level, Frequent Giardia... OMIM:615577
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Dysgammaglobulinemia, Anemia, Lymphadenopathy, Ascites ORPHA:100025
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, Sp... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, Sp... OMIM:233710
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Immunodeficiency 21
Recurrent fungal infections, Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemi... OMIM:614172
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Splenomegaly, Abscess, Diarrhea, B lymphocytopenia, Intermittent thromb... OMIM:150550
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Wiskott-Aldrich Syndrome
Melena, Eczema, Diarrhea, Sepsis, Decreased mean platelet volume, Abnormal delayed hypersensitivi... OMIM:301000
Bone Marrow Failure Syndrome 4
Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Thrombocyt... OMIM:618116
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Immunodeficiency 69
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr... OMIM:618963
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Throm... OMIM:603552
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, Sp... OMIM:233690
Transcobalamin Ii Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:275350
Secondary Short Bowel Syndrome
Failure to thrive, Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, S... ORPHA:95427
Dyskeratosis Congenita, Autosomal Recessive 5
Colitis, Leukopenia, Decreased circulating antibody level, Esophageal stenosis, Bone marrow hypoc... OMIM:615190
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia OMIM:152800
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... OMIM:619374
Pseudomyxoma Peritonei
Constipation, Abdominal pain, Inflammation of the large intestine, Intestinal obstruction, Weight... ORPHA:26790
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy, Dysgammaglobulinemia ORPHA:158014
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Immunodeficiency 98 With Autoinflammation, X-Linked
Recurrent otitis media, Decreased circulating IgG level, Chronic oral candidiasis, Hemophagocytos... OMIM:301078
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Recurrent fungal infections, Splenomegaly, Sepsis, Recurrent ... ORPHA:169090
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... ORPHA:221139
Complement Component 3 Deficiency, Autosomal Recessive
Systemic lupus erythematosus, Recurrent tonsillitis, Recurrent bacterial infections, Membranoprol... OMIM:613779
Immunodeficiency 22
Failure to thrive, Diarrhea, Decreased proportion of CD4-positive helper T cells, Autoimmunity, R... OMIM:615758
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Autoimmunity, Hemolytic anemia, Splenomegaly ORPHA:228312
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev... OMIM:600903
Immunodeficiency 92
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... OMIM:619652
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... ORPHA:90362
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Eczema, Diarrhea, B lymphocytopenia, Inflammatory abnormality of the skin, Villous atrophy, Hepat... ORPHA:391487
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Increased circulating IgM level, Anemia, Lymphadenopathy ORPHA:37748
Thymoma
Systemic lupus erythematosus, Rheumatoid arthritis, Abnormal lymphocyte physiology, Aplastic anem... ORPHA:99867
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia ORPHA:1116
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Abnormality of the lymph nodes, Extramedullary hematopoiesis, Splenomegaly, Hepatos... OMIM:612840
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Lymphopenia, Abnormally low T cell receptor excision circle level, Decreased circulating antibody... OMIM:619767
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Failure to thrive, Coombs-positive hemolytic anemia, Severe infection, Eosinophilia, Eczem... OMIM:304790
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Failure to thrive, Bloody diarrhea, Defective T cell proliferation, Candida esophagitis, Leukocyt... OMIM:618213
Immunodeficiency 23
High palate, Eczema, Abscess, Rheumatoid factor positive, Increased circulating IgG level, Severe... OMIM:615816
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Recurrent bacterial infections, Autoimmune thromb... OMIM:613496
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Prostatitis, Decreased response to growth hormone stimulation test, Enteroviral dermat... OMIM:307200
Adenocarcinoma Of The Esophagus
Gastroesophageal reflux, Barrett esophagus, Esophageal carcinoma, Feeding difficulties in infancy... ORPHA:99976
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... OMIM:266600
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Autoimmune Hepatitis
Increased circulating antibody level, Liver kidney microsome type 1 antibody positivity, Viral he... ORPHA:2137
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activity, Anemia OMIM:608898
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Diarrhea, Perioral eczema, Recurrent sinusitis, Recurrent aphthous stomatitis, Recurrent... OMIM:613960
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Hepatomegaly, Hemophagocytosis, Spleno... OMIM:615122
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Reduced natural killer cell count, Increased circulating IgM lev... OMIM:242860
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
Refractory Celiac Disease
Malabsorption, Inflammatory abnormality of the skin, Abdominal pain, Increased proportion of HLA ... ORPHA:398063
Immunodeficiency 55
Neutropenia, Lymphadenopathy, Lymphopenia, Absent natural killer cells OMIM:617827
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Leishmaniasis
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage... ORPHA:507
Ataxia-Telangiectasia
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Elevated alpha-fet... OMIM:208900
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium OMIM:616868
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... OMIM:615234
Immunodeficiency 10
Recurrent bacterial infections, Hypohidrosis, Recurrent infections, Autoimmune hemolytic anemia, ... OMIM:612783
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Colitis, Hemophagocytosis, Splenomegaly, Skin rash, Maculopapular exant... ORPHA:540
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Recurrent sinusitis, Decreased circulating antibody level, Re... OMIM:616576
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187950
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
High palate, Eczematoid dermatitis, Recurrent fungal infections, Skin rash, Eosinophilia, Chronic... OMIM:147060
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Specific Granule Deficiency 2
Failure to thrive, Recurrent otitis media, Intractable diarrhea, Sepsis, Recurrent bacterial infe... OMIM:617475
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Pulmonary Blastoma
Weight loss, Recurrent pneumonia ORPHA:64741
Eosinophilic Gastroenteritis
Malabsorption, Leukocytosis, Steatorrhea, Abdominal pain, Eosinophilia, Diarrhea, Atopic dermatit... ORPHA:2070
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level, Recurrent infections ORPHA:99811
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Immunodeficiency 87 And Autoimmunity
Cleft palate, Hepatic failure, Cervical lymphadenopathy, Sepsis, Abnormal lymphocyte proliferatio... OMIM:619573
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas... ORPHA:319552
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastroesophageal reflux, Poor suck, Weight loss, Abnormal esophagus physiolo... ORPHA:2198
Shigellosis
Abdominal cramps, Bloody mucoid diarrhea, Hepatic failure, Sepsis, Abscess, Vomiting, Myocarditis... ORPHA:810
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Bone Marrow Failure Syndrome 5
Anemia, Decreased circulating antibody level, Pure red cell aplasia OMIM:618165
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Recurrent infections OMIM:614069
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Acute myeloid leukemia OMIM:616871
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop... OMIM:619079
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Abdominal p... ORPHA:2494
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Neutropenia in presence of anti-neutropil antibodies, Hepatosp... OMIM:615952
Leukocyte Adhesion Deficiency, Type I
Periodontitis, Osteomyelitis, Leukocytosis, Recurrent bacterial infections, Recurrent staphylococ... OMIM:116920
Immunodeficiency 12
Recurrent viral infections, Recurrent bacterial infections OMIM:615468
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Colitis, Congenital hypothyroidism ORPHA:88643
5-Oxoprolinase Deficiency
Vomiting, Diarrhea, Enterocolitis, Abdominal pain OMIM:260005
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Inappropriate antidiuretic hormone secretion, Hepatosplenomegaly, Absence of lymph ... ORPHA:79124
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Igg4-Related Aortitis
Increased circulating antibody level, Abdominal pain, Antinuclear antibody positivity, Increased ... ORPHA:449400
Gamma-Heavy Chain Disease
Skin rash, Splenomegaly, Rheumatoid arthritis, Autoimmune thrombocytopenia, Abnormal lymphocyte m... ORPHA:100026
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly OMIM:611762
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... ORPHA:75564
Bone Marrow Failure Syndrome 1
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia OMIM:614675
Hirschsprung Disease
Constipation, Abdominal pain, Sepsis, Diarrhea, Failure to thrive in infancy, Intestinal obstruct... ORPHA:388
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Bloody diarrhea, Leukocytosis, Abdominal pain, Diarrhea, Constrictive pericarditis... ORPHA:67
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Failure to thrive, Leukocytosis, Splenomegaly, Abdominal pain, Lymphadenitis, Eczema, Recurrent b... OMIM:615895
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia... OMIM:619041
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... ORPHA:98848
Multicentric Reticulohistiocytosis
Histiocytosis, Cachexia, Arthritis ORPHA:139436
Granulomatous Disease, Chronic, X-Linked
Impaired oxidative burst, Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid der... OMIM:306400
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections, Monocytopenia, Neutropenia ORPHA:86788
Aggressive Systemic Mastocytosis
Abdominal cramps, Decreased liver function, Malabsorption, Neutropenia, Abnormal mast cell morpho... ORPHA:98850
Mirage Syndrome
Adrenal insufficiency, Decreased body weight, Lymphopenia, Gastroesophageal reflux, Anemia, Aspir... OMIM:617053
Neonatal Severe Primary Hyperparathyroidism
Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyroid gland, Hepatomega... ORPHA:417
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Reduced nat... OMIM:608233
Aregenerative Anemia
Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, T... ORPHA:101096
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:614480
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Chronic otitis media, Thrombocytopenia, ... ORPHA:3226
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Failure to thrive, Splenomegaly, Impaired ... OMIM:614576
Whim Syndrome
Sinusitis, Lymphopenia, Otitis media, Lymphadenitis, Sepsis, Recurrent bacterial infections, Seve... ORPHA:51636
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Insulin Autoimmune Syndrome
Increased circulating antibody level, Systemic lupus erythematosus, Autoimmune antibody positivit... ORPHA:411593
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Pyoderma Gangrenosum
Increased circulating antibody level, Pustule, Rheumatoid arthritis, Myeloid leukemia, Inflammati... ORPHA:48104
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Antiphospholipid antibody positivity, Lymphopenia, Increased circulating IgA l... OMIM:615934
Eosinophilopenia
Autoimmunity, Decreased eosinophil count OMIM:131430
Hirschsprung Disease, Susceptibility To, 1
Constipation, Abdominal distention, Enterocolitis, Vomiting, Abnormality of enteric ganglion morp... OMIM:142623
Visceral Myopathy 2
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... OMIM:619350
Idiopathic Achalasia
Gastroesophageal reflux, Recurrent aspiration pneumonia, Malnutrition, Dysphagia, Weight loss ORPHA:930
Omenn Syndrome
Failure to thrive, Leukocytosis, Splenomegaly, Eosinophilia, Sepsis, Abnormal lymphocyte morpholo... ORPHA:39041
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Abnormality of tumor necrosis factor secretion, Inc... ORPHA:158061
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Anorexia, Chronic noninfectious lymphadenopathy, Weight loss,... ORPHA:100083
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Abdominal pain, Abnormality of the lymph nodes, Diarrhea, Brain abscess, Abnormalit... ORPHA:54251
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Reduced circul... OMIM:619632
Iga Pemphigus
Increased circulating IgA level, Pustule, Eosinophilia, Monoclonal elevation of circulating IgA, ... ORPHA:555905
Sepsis In Premature Infants
Decreased liver function, Decreased body weight, Abdominal distention, Enterocolitis, Leukocytosi... ORPHA:90051
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Immunodeficiency 47
Splenomegaly, Decreased circulating total IgA, Leukopenia, Accessory spleen, Normocytic anemia, D... OMIM:300972
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Pancytopenia OMIM:616435
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Meningitis, Weight loss, Lymphadenopathy ORPHA:545
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Aplastic Anemia
Bone marrow hypocellularity, Aplastic anemia OMIM:609135
Wolman Disease
Adrenal insufficiency, Abdominal distention, Splenomegaly, Hepatic failure, Steatorrhea, Cachexia... ORPHA:75233
Tyrosinemia Type 1
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
C1Q Deficiency
Systemic lupus erythematosus, Autoimmunity OMIM:613652
Isolated Congenital Hypoglossia/Aglossia
Feeding difficulties, Cleft palate, Aspiration pneumonia, Weight loss, Nasogastric tube feeding i... ORPHA:141152
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils, Hepatitis, ... ORPHA:381
Pemphigus Vulgaris
Feeding difficulties in infancy, Autoimmunity, Recurrent infections, Weight loss, Recurrent cutan... ORPHA:704
Hodgkin Lymphoma
Splenomegaly, Anorexia, Weight loss, Lymphadenopathy, Hyperhidrosis ORPHA:98293
Linear Iga Dermatosis
Autoimmunity, Inflammation of the large intestine ORPHA:46488
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Bone-marrow foam cells, Anemia, Thrombocytopenia OMIM:607616
Neutropenia, Severe Congenital, 4, Autosomal Recessive
High palate, Cleft palate, Otitis media, Sepsis, Splenomegaly, Recurrent urinary tract infections... OMIM:612541
Vici Syndrome
Failure to thrive, Recurrent fungal infections, Decreased circulating IgG level, Cleft palate, Re... OMIM:242840
Common Variable Immunodeficiency
Anal atresia, Lymphopenia, Splenomegaly, Otitis media, Gastrointestinal stroma tumor, Autoimmune ... ORPHA:1572
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibr... OMIM:613313
Sézary Syndrome
Hepatomegaly, Splenomegaly, Abnormal immunoglobulin level, Abnormal lymphocyte morphology, Lympha... ORPHA:3162
Inflammatory Bowel Disease 11
Abdominal pain, Diarrhea, Inflammation of the large intestine, Hematochezia, Weight loss OMIM:191390
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Smooth muscle antibody positivity, Sclerosing ... ORPHA:562639
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ileus, Ovarian neoplasm, Abdominal distention, Abdominal pain, Cachexia... ORPHA:83469
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Neutrophilia, Leukocytosis, Elevated circulating C-reactive prot... OMIM:617099
Dyskeratosis Congenita, Digenic
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:620040
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Purine Nucleoside Phosphorylase Deficiency
Systemic lupus erythematosus, Lymphopenia, Unusual gastrointestinal infection, Autoimmune thrombo... ORPHA:760
Unclassified Myelodysplastic Syndrome
Bone marrow hypocellularity, Acute myeloid leukemia, Leukocytosis ORPHA:98827
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy, Recurrent infections OMIM:251240
Candidiasis, Familial, 1
Abnormality of the endocrine system, Cutaneous anergy OMIM:114580
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Esophagitis, Eosinophilic, 2
Failure to thrive, Eosinophilia, Vomiting, Esophagitis, Dysphagia OMIM:613412
Esophagitis, Eosinophilic, 1
Failure to thrive, Eosinophilia, Vomiting, Esophagitis, Dysphagia OMIM:610247
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Reduced haptoglobin level, Splenomegaly OMIM:612126
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Malabsorption, Constipation, Abdominal distention, Abdominal pain, Cachexia, Malnu... OMIM:613662
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:2584
Syndromic Diarrhea
Bloody diarrhea, Colitis, Lymphopenia, Hepatoblastoma, Gastritis, Splenomegaly, Dependency on int... ORPHA:84064
Tularemia
Increased circulating antibody level, Conjunctivitis, Leukocytosis, Otitis media, Cervical lympha... ORPHA:3392
Autoinflammatory-Pancytopenia Syndrome
Failure to thrive, Hemophagocytosis, Intestinal inflammation, Hepatosplenomegaly, Membranoprolife... OMIM:619858
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Skin rash, Palmoplantar pustulosis, Inflammation of the large intestine, Arthritis... ORPHA:324964
Immunodeficiency 27B
Recurrent mycobacterial infections, Osteomyelitis, Generalized lymphadenopathy, Recurrent mycobac... OMIM:615978
Icf Syndrome
Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level, Anemia, Recurrent ... ORPHA:2268
Intestinal Dysmotility Syndrome
High palate, Failure to thrive, Abdominal distention, Feeding difficulties, Projectile vomiting, ... OMIM:620045
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Ataxia-Telangiectasia
Decreased circulating antibody level, Lymphopenia, Recurrent respiratory infections ORPHA:100
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Bone marrow hypocellula... ORPHA:86843
Q Fever
Maculopapular exanthema, Rheumatoid factor positive, Myocarditis, Antimitochondrial antibody posi... ORPHA:781
Immunodeficiency 67
Recurrent streptococcal infections, Recurrent staphylococcal infections, Increased circulating Ig... OMIM:607676
Cinca Syndrome
Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hepatosplenome... OMIM:607115
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Bone marrow hy... ORPHA:86841
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Wiskott-Aldrich Syndrome
Keratitis, Otitis media, Eczema, Sepsis, Hematochezia, Blepharitis, Conjunctivitis, Inflammation ... ORPHA:906
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Hypothyroidism, Neut... OMIM:618849
Trichohepatoenteric Syndrome 2
Failure to thrive, Bloody diarrhea, Colitis, Small for gestational age, Chronic hepatitis, Diarrh... OMIM:614602
Bloom Syndrome
Recurrent gastroenteritis, Decreased circulating IgA level, Abnormal proportion of CD8-positive T... ORPHA:125
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Rhabdoid Tumor
Neoplasm of the liver, Abdominal pain, Anemia, Thrombocytopenia, Weight loss, Nausea and vomiting... ORPHA:69077
Kaposi Sarcoma
Skin rash, Diarrhea, Abnormality of the gastrointestinal tract, Abnormality of the spleen, Genera... ORPHA:33276
Majeed Syndrome
Failure to thrive, Malabsorption, Osteomyelitis, Inflammatory abnormality of the skin, Pustule, L... ORPHA:77297
Zygomycosis
Melena, Pancreatitis, Gastritis, Unusual gastrointestinal infection, Diarrhea, Vomiting, Acute in... ORPHA:73263
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopat... ORPHA:514
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Typ... OMIM:616860
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Increased circulating IgG level, Thrombocytopenia, Increase... ORPHA:83313
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Thyroiditis, Neutropenia in presence of anti-neutropil antibodies, Smooth muscle antibody positiv... ORPHA:228426
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased lymphocyte proliferation in response to mitogen, Lymphopenia, Decreased circulating IgG... ORPHA:508533
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level, Recurrent infections OMIM:616910
Sweet Syndrome
Oligoarthritis, Neutrophilia, Leukocytosis, Pustule, Sterile abscess, Acne inversa, Myositis, Inf... ORPHA:3243
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Solitary Rectal Ulcer Syndrome
Bloody mucoid diarrhea, Bloody diarrhea, Decreased body weight, Episodic abdominal pain, Abdomina... ORPHA:209964
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Splenoportal Vascular Anomalies
Splenomegaly, Cirrhosis, Hepatic fibrosis, Diabetes mellitus, Ascites, Anomalous splenoportal ven... OMIM:271500
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly OMIM:620010
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level, Recurrent respiratory infections ORPHA:2571
Hereditary Folate Malabsorption
Megaloblastic anemia, Eosinophilia, Recurrent urinary tract infections, Decreased circulating ant... ORPHA:90045
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... OMIM:612301
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Abnormal circulating IgG level, Recurrent bacterial infections, ... OMIM:300291
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:391
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute colitis, Bloody diarrhea, Pancreatitis, Leukocytosis, Intussusception, Abdominal pain, Peri... ORPHA:90038
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Thrombocytopenia ORPHA:158029
Cronkhite-Canada Syndrome
Malabsorption, Abdominal pain, Stomach cancer, Splenomegaly, Anorexia, Cachexia, Diarrhea, Furrow... ORPHA:2930
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Weight loss, Mediastinal lymphadenopathy, Abnormal proportion... ORPHA:133
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Increased circulating interleukin 6 concentration, ... OMIM:614034
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Elevated ci... OMIM:616828
Immunodeficiency 91 And Hyperinflammation
Failure to thrive, Neutrophilia, Hemophagocytosis, Acute hepatic failure, Maculopapular exanthema... OMIM:619644
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Hypoalbuminemia, Portal fibrosis, Jaundice, Acholic stools OMIM:619868
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Steatorrhea, Eczema, Sepsis, Aplastic anemia, Macrocytic anemi... ORPHA:811
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615085
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Atopic dermatitis, Abnormality of the gastrointestinal tract, Weight loss, Hypereos... ORPHA:2902
Inflammatory Pseudotumor Of The Liver
Neoplasm of the liver, Abdominal distention, Abdominal pain, Increased hepatitis B virus antibody... ORPHA:90003
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Sinusitis, Failure to thrive, Lymphopenia, Panniculitis, Sp... OMIM:617591
Secondary Intestinal Lymphangiectasia
Decreased circulating IgA level, Lymphopenia, Decreased circulating total IgM, Decreased circulat... ORPHA:90363
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Aplastic anemia, Myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Leukemia OMIM:614743
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Reduced serum alpha-1-antitrypsin, Splenomegaly OMIM:613490
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Elevated circulating C-reactive protein concentration, Elevated circulating amyloid A, Hepatosple... OMIM:619750
Griscelli Syndrome Type 2
Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Pancytopenia, Lymphadenopathy, Jaundice ORPHA:79477
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent lower respiratory tract infections, Decreased circulating IgA level, Decreased circulat... OMIM:617744
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Increased circulating ferritin concentration, Abnormality of the hepatic vasculature, Hepatosplen... ORPHA:210136
Hypocomplementemic Urticarial Vasculitis
Abdominal pain, Splenomegaly, Skin rash, Recurrent bacterial infections, Diarrhea, Arthritis, Epi... ORPHA:36412
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Neutropenia OMIM:600351
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Severe B lymphocyt... OMIM:620005
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Sepsis, Autoimmune thrombocytopenia, Recurrent upper respiratory tract ... ORPHA:293978
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Pustule, Skin rash, Acute hepatic failure, Eosinophilia, Interstitial pneumonitis,... ORPHA:139402
Mitochondrial Neurogastrointestinal Encephalomyopathy
Atrophic muscularis propria, Gastroesophageal reflux, Abdominal pain, Abdominal distention, Small... ORPHA:298