Gene: Lig4 MGI:1335098

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

ligase IV, DNA, ATP-dependent

Synonyms:

5830471N16Rik, tiny, DNA ligase IV

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 Lig4 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 Lig4 (5 diseases)
Human diseases predicted to be associated with Lig4 (741 diseases)

The table below shows human diseases associated to Lig4 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Lig4 Syndrome	Malabsorption, Hepatomegaly, Leukocytosis, Lymphoma, Pancytopenia, Growth delay, Cryptorchidism, ...	ORPHA:99812
Omenn Syndrome	Failure to thrive, Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte mo...	ORPHA:39041
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Dubowitz Syndrome	Hypoparathyroidism, High palate, Malabsorption, Neoplasm, Cryptorchidism, Short stature, Eczema, ...	ORPHA:235
Lig4 Syndrome	Amenorrhea, Failure to thrive, Myelodysplasia, Pancytopenia, Cryptorchidism, Thrombocytopenia, Ps...	OMIM:606593

The table below shows human diseases predicted to be associated to Lig4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Fraxf Syndrome	Folate-dependent fragile site at Xq28	ORPHA:100974
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ...	OMIM:615897
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia	OMIM:233650
Lymphoid System Deterioration, Progressive	Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I...	OMIM:247630
Caspase 8 Deficiency	Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95...	OMIM:607271
Immunodeficiency 40	Lymphopenia	OMIM:616433
Immunodeficiency 105	Decreased circulating IgA level, B-cell lymphoma, Lymphopenia, Decreased circulating IgG level, S...	OMIM:619924
Severe Combined Immunodeficiency, X-Linked	Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly...	OMIM:300400
Agammaglobulinemia 8B, Autosomal Recessive	Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased pr...	OMIM:619824
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Immunodeficiency, Common Variable, 1	Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ...	OMIM:607594
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Cervical l...	OMIM:618987
Immunodeficiency 102	Hepatomegaly, Partial absence of specific antibody response to unconjugated pneumococcus vaccine,...	OMIM:301082
Immunodeficiency 48	Failure to thrive, Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Diarrhea, Panhypogammaglobu...	OMIM:269840
Immunodeficiency 18	Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-positive T cells	OMIM:615615
Immunoglobulin A Deficiency 2	Decreased circulating IgA level, Abnormal lymphocyte morphology, Autoimmunity, Recurrent infectio...	OMIM:609529
Immunodeficiency 70	Colitis, Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Rec...	OMIM:618969
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Lymphocytosis, Splenomegaly	OMIM:606445
Immunodeficiency 36	Decreased circulating IgA level, B-cell lymphoma, Lymphopenia, Decreased circulating IgG level, E...	OMIM:616005
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:612692
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Rec...	OMIM:613500
Immunodeficiency 64	Increased proportion autoreactive unresponsive CD21-/low B cells, Cervical lymphadenopathy, Anti-...	OMIM:618534
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha...	OMIM:616452
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Eczema, Diarrhea, Decreased proportion of CD4+CD25+ regulatory T cells, Monocyt...	OMIM:619802
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells...	OMIM:312863
Immunodeficiency, Common Variable, 2	Decreased circulating IgA level, Neoplasm, Decreased circulating IgG level, Hepatomegaly, Splenom...	OMIM:240500
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgA level, Recurrent otitis media, Decreased circulating IgG level, Decreas...	OMIM:613502
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Recurrent ski...	OMIM:618944
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Feeding difficulties, Small for gestational age, Hypoplasia of the thymus, Eczema, Decreased prop...	OMIM:617241
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt...	OMIM:619281
Transcobalamin Deficiency	Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre...	ORPHA:859
Immunodeficiency 44	Decreased circulating IgA level, Lymphopenia, Abnormal circulating IgG level, Decreased circulati...	OMIM:616636
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Immunodeficiency 60 And Autoimmunity	Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc...	OMIM:618394
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n...	OMIM:212050
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatomegaly, Lymphadenitis, Abnormal B cell count, Abnormal T cell count, Decreased circulating ...	ORPHA:331206
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgA level, Oligoarthritis, Lymphopenia, Decreased circulating IgG level, Tu...	OMIM:619510
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:619707
Nijmegen Breakage Syndrome	Recurrent infection of the gastrointestinal tract, Cleft palate, Otitis media, Diarrhea, B lympho...	OMIM:251260
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Lymphoproliferative disorder, Diarrhea, Pneumonia, Jaundice, Decreased proportion o...	ORPHA:276
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ...	ORPHA:169160
Immunodeficiency, Common Variable, 3	Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,...	OMIM:613493
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Crohn's disease, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, H...	OMIM:616100
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati...	OMIM:606843
Immunodeficiency, Common Variable, 8, With Autoimmunity	Lymphoproliferative disorder, B lymphocytopenia, Decreased specific antibody response to vaccinat...	OMIM:614700
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia, Defective T cell proliferation, R...	OMIM:614493
Immunodeficiency 50	Decreased circulating antibody level, Lymphopenia, Neutropenia	OMIM:300988
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
Cernunnos-Xlf Deficiency	Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ...	ORPHA:169079
Autoimmune Lymphoproliferative Syndrome	Abnormal proportion of CD8-positive T cells, Hepatomegaly, Gastritis, Non-Hodgkin lymphoma, Rheum...	ORPHA:3261
Lymphoproliferative Syndrome, X-Linked, 2	Colitis, Hepatomegaly, Folliculitis, Hemophagocytosis, Splenomegaly, Recurrent skin infections, A...	OMIM:300635
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ...	ORPHA:169154
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent gastroenteritis, Failure to thrive, Decreased circulating IgA level, Decreased circulat...	ORPHA:275
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Immunodeficiency, Common Variable, 7	Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin...	OMIM:614699
Lymphoproliferative Syndrome 3	Partial absence of specific antibody response to tetanus vaccine, Hepatosplenomegaly, Decreased c...	OMIM:618261
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Ataxia-Telangiectasia	Failure to thrive, Neoplasm, Lymphopenia, Short stature, Elevated hepatic transaminase, Decreased...	ORPHA:100
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Hodgkin lymphoma, B-cell lymphoma, Splenom...	OMIM:300853
Immunodeficiency, Common Variable, 11	Crohn's disease, Failure to thrive, Decreased circulating IgG level, Mucoid diarrhea, Inflammatio...	OMIM:615767
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Eczema, B lymphocytopenia, Erythroderma, Decreased proportion of CD4+CD25+ regulatory T cells, Fa...	OMIM:606367
Immunodeficiency 52	Failure to thrive, Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemo...	OMIM:617514
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Short stature, Neutropenia	OMIM:610798
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Impaired memory B cell generation, Diarrhea, Absence of lymph node germinal center,...	OMIM:308230
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Rheumatoid factor positive, Smooth muscle antibody positivity, Splenomegaly, Follic...	OMIM:601859
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Selective Igm Deficiency	Keratitis, Multiple myeloma, Recurrent infection of the gastrointestinal tract, Stomach cancer, O...	ORPHA:331235
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Absent specific antibody response, Severe B lymphocytopenia, Diarrhea, B lymphocyto...	OMIM:102700
X-Linked Lymphoproliferative Disease	Hemophagocytosis, Hepatic failure, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, ...	ORPHA:2442
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level	OMIM:235900
Immunodeficiency 92	Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ...	OMIM:619652
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Systemic lupus erythematosus, Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic a...	ORPHA:444463
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:611926
Immunodeficiency 95	Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level	OMIM:619773
Immunoerythromyeloid Hypoplasia	Lymphoproliferative disorder, Decreased circulating IgG level, Absent leukocyte alkaline phosphat...	OMIM:242880
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Eosinophilic infiltration of the esophagus, Eosinophilia, Decreased circulating total IgM, Eczema...	OMIM:243700
Li-Fraumeni Syndrome	Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca...	ORPHA:524
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Acute otitis ...	ORPHA:35078
Immunodeficiency 14A, Autosomal Dominant	Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor...	OMIM:615513
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi...	OMIM:618204
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis	OMIM:247800
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	High palate, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Recur...	OMIM:619752
Immunodeficiency 54	Failure to thrive, Intrauterine growth retardation, Adrenocorticotropic hormone excess, Hepatomeg...	OMIM:609981
Proteasome-Associated Autoinflammatory Syndrome 2	Failure to thrive, Increased circulating IgA level, Skin rash, Abnormal circulating IgM level, An...	OMIM:618048
Immunodeficiency 8	Lymphopenia	OMIM:615401
Immunodeficiency, Common Variable, 14	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:617765
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent infection of the gastrointestinal tract, Lymphoproliferative disorder, Lymphadenitis, P...	ORPHA:911
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Failure to thrive, Malabsorption, Decreased circulating IgA level, Sinusitis, Macroglossia, Short...	OMIM:242860
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Rheumatoid factor positive, Gastrointestinal hemorrhage, Lymphadenopathy, Smooth mu...	OMIM:603909
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Decreased cir...	OMIM:605258
Bloom Syndrome	Recurrent gastroenteritis, Cheilitis, Abnormal proportion of CD8-positive T cells, Stomach cancer...	ORPHA:125
Primary Sclerosing Cholangitis	Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Uveitis, Chronic hep...	ORPHA:171
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Crohn's disease, Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytope...	OMIM:619705
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent infection of the gastrointestinal tract, Chronic hepatitis due to cryptosporidium infec...	ORPHA:572
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hematochezia, T-cell lymphoma, Intrauterine growth retardation, Bloody diarrhea, Colonic atresia,...	OMIM:243150
X-Linked Agammaglobulinemia	Abnormality of the tonsils, Weight loss, Malabsorption, Osteomyelitis, Arthritis, Hepatitis, Anem...	ORPHA:47
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism	OMIM:183350
Primary Intestinal Lymphangiectasia	Decreased circulating IgA level, Peritoneal effusion, Lymphopenia, Decreased circulating IgG leve...	ORPHA:90362
Autoimmune Lymphoproliferative Syndrome, Type Iii	Hepatomegaly, Absent isohemagglutinin level, Increased proportion autoreactive unresponsive CD21-...	OMIM:615559
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia	OMIM:616873
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia, Antiphospholipid antibody positivity	OMIM:182410
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating IgG level, Severe short stature, Decreased circulating total IgM, Neutropen...	ORPHA:2643
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgA level, Decreased circulating IgG level, Epididymitis, Increased circula...	OMIM:608106
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Polyclonal elevation of IgM...	OMIM:153600
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr...	ORPHA:70593
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Neutropenia	OMIM:615214
Ataxia-Telangiectasia	Non-Hodgkin lymphoma, Leukemia, Decreased circulating IgA level, T lymphocytopenia, Female hypogo...	OMIM:208900
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating IgA level, Enterocolitis, Decreased circulating total IgM, Interstitial pne...	OMIM:614878
Immunodeficiency 72 With Autoinflammation	Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin...	OMIM:618982
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Recurrent otitis media, Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenom...	OMIM:619220
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating IgG level, Severe short stature, Decreased circulating total IgM, Neutropen...	OMIM:251190
Agammaglobulinemia, X-Linked	Enteroviral hepatitis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic arthrit...	OMIM:300755
Mismatch Repair Cancer Syndrome 1	Adenomatous colonic polyposis, Plexiform neurofibroma, Medulloblastoma, Neuroblastoma, Pleomorphi...	OMIM:276300
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen...	OMIM:619846
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Colitis, Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with ...	OMIM:617006
Agammaglobulinemia 3, Autosomal Recessive	Failure to thrive, Neutropenia, Diarrhea, Recurrent otitis media, Agammaglobulinemia	OMIM:613501
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level, Short stature, Small for gestational age, Macronodular cirrhosis...	OMIM:215250
Immunodeficiency 57 With Autoinflammation	B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Par...	OMIM:618108
Scleroderma, Familial Progressive	Chromosome breakage, Abnormality of chromosome stability	OMIM:181750
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Failure to thrive, Otitis media, Purulent rhinitis, Diarrhea, B lymphocytopenia, Panhypogammaglob...	OMIM:601457
Immunodeficiency 96	Increased mean corpuscular volume, Decreased circulating IgA level, Decreased circulating IgG lev...	OMIM:619774
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Decreased circulating IgA level, Hepatomegaly, Gastroesophageal reflux, Splenomegaly, Short statu...	OMIM:613385
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Autoinflammatory Disease, Systemic, X-Linked	Osteomyelitis, Decreased circulating IgG level, Panuveitis, Optic neuritis, Decreased circulating...	OMIM:301081
Fanconi Anemia, Complementation Group D1	T-cell acute lymphoblastic leukemias, Anal atresia, Failure to thrive, Short stature, Bone marrow...	OMIM:605724
Chromosomal Instability With Tissue-Specific Radiosensitivity	Abnormality of chromosome stability	OMIM:215510
Immunodeficiency 27A	Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Anorexia, Hepatospleno...	OMIM:209950
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Failure to thrive, Hepatomegaly, Lymphocytic interstitial pneumonia, Splenomegaly, Diarrhea, Incr...	OMIM:618495
Nijmegen Breakage Syndrome-Like Disorder	Chromosomal breakage induced by ionizing radiation	OMIM:613078
Immunodeficiency 17	Recurrent gastroenteritis, Failure to thrive, Recurrent otitis media, Anoperineal fistula, Chroni...	OMIM:615607
Immunodeficiency 25	Increased circulating IgA level, Smooth muscle antibody positivity, Eosinophilia, Increased circu...	OMIM:610163
Griscelli Syndrome	Hepatomegaly, Splenomegaly, Short stature, Leukopenia, Pyloric stenosis, Abnormality of neutrophi...	ORPHA:381
Macrophage Activation Syndrome	Hepatomegaly, Hemophagocytosis, Elevated circulating aspartate aminotransferase concentration, Th...	ORPHA:158061
Autoimmune Hepatitis	Diffuse hepatic steatosis, Anti-liver cytosolic antigen type 1 antibody positivity, Gastrointesti...	ORPHA:2137
Autosomal Agammaglobulinemia	High palate, Failure to thrive, Malabsorption, Osteomyelitis, Sinusitis, Skin rash, Recurrent ski...	ORPHA:33110
Ras-Associated Autoimmune Leukoproliferative Disorder	Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Lymphoproliferat...	OMIM:614470
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Ileus, Failure to thrive, Coombs-positive hemolytic anemia, Eosinophilia, Eczema, Autoimmune thro...	OMIM:304790
Lymphoproliferative Syndrome, X-Linked, 1	Burkitt lymphoma, Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, ...	OMIM:308240
Bloom Syndrome	Intrauterine growth retardation, Decreased circulating IgA level, Decreased circulating IgG level...	OMIM:210900
Fanconi Anemia, Complementation Group J	Bone marrow hypocellularity, Intrauterine growth retardation, Chromosomal breakage induced by cro...	OMIM:609054
Alpha-Heavy Chain Disease	Malabsorption, Hepatomegaly, Abdominal pain, Splenomegaly, Lymphoma, Abnormality of the small int...	ORPHA:100025
Immunoglobulin A Deficiency 1	Malabsorption, Decreased circulating IgA level, Autoimmunity, Recurrent infection of the gastroin...	OMIM:137100
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Failure to thrive, Decreased circulating IgA level, Feeding difficulties, Short stature, Recurren...	OMIM:617744
Reticular Dysgenesis	Failure to thrive, Malabsorption, Skin rash, Leukopenia, Diarrhea, Chronic otitis media, Abnormal...	ORPHA:33355
Immunodeficiency 82 With Systemic Inflammation	Gastritis, Diarrhea, Vomiting, B lymphocytopenia, Pneumonia, Weight loss, Decreased proportion of...	OMIM:619381
Immunodeficiency 20	Reduced natural killer cell activity, Reduced natural killer cell count	OMIM:615707
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Atopic dermatitis, Anal canal squamous carcinoma, Chronic ot...	ORPHA:217390
Lymphoproliferative Syndrome 1	Hodgkin lymphoma, B-cell lymphoma, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, L...	OMIM:613011
Immunodeficiency 89 And Autoimmunity	Crohn's disease, Reduced circulating interleukin 27 concentration, Increased circulating IgA leve...	OMIM:619632
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Recurrent gastroenteritis, Gastritis, Eczema, Vomiting, Anti-thyroid peroxidase antibody positivi...	ORPHA:37042
Immunodeficiency 47	Exocrine pancreatic insufficiency, Hepatomegaly, Elevated circulating aspartate aminotransferase ...	OMIM:300972
Turcot Syndrome With Polyposis	Melena, Constipation, Hepatoblastoma, Diarrhea, Soft tissue neoplasm, Vomiting, Hematochezia, Bas...	ORPHA:99818
Fanconi Anemia, Complementation Group N	Medulloblastoma, Neuroblastoma, Nephroblastoma, Aplastic anemia, Chromosomal breakage induced by ...	OMIM:610832
Mu-Heavy Chain Disease	Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Weight l...	ORPHA:100024
Immunodeficiency 84	Perianal abscess, B lymphocytopenia, Splenomegaly	OMIM:619437
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Colitis, Hemophagocytosis, Splenomegaly, Abnormal natural killer cell physiology, Hepatosplenomeg...	OMIM:613101
Pgm3-Cdg	High palate, Abnormal proportion of CD8-positive T cells, Eczema, Rheumatoid factor positive, Chr...	ORPHA:443811
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neu...	OMIM:615285
Reticular Dysgenesis	Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy...	OMIM:267500
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno...	ORPHA:2585
Icf Syndrome	Malabsorption, Lymphopenia, Macroglossia, Short stature, Abnormality of neutrophils, Decreased ci...	ORPHA:2268
Thymic Aplasia	Decreased proportion of naive T cells, Decreased lymphocyte proliferation in response to mitogen,...	ORPHA:83471
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Dyskeratosis Congenita, Digenic	Failure to thrive, Decreased circulating IgA level, Intrauterine growth retardation, Decreased ci...	OMIM:620040
Immunodeficiency 86	Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst	OMIM:619549
Fanconi Anemia, Complementation Group G	Myelodysplasia, Neutropenia, Growth delay, Anemia, Thrombocytopenia, Leukemia, Abnormality of chr...	OMIM:614082
Bare Lymphocyte Syndrome, Type Ii	Failure to thrive, Malabsorption, Colitis, Viral hepatitis, Biliary tract abnormality, Panhypogam...	OMIM:209920
Congenital Disorder Of Glycosylation, Type Iir	Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa...	OMIM:301045
Immunodeficiency 19	Lymphopenia	OMIM:615617
Celiac Disease, Susceptibility To, 1	Steatorrhea, Eczema, Diarrhea, Vomiting, Macrocytic anemia, Weight loss, Decreased circulating Ig...	OMIM:212750
Schnitzler Syndrome	Hepatomegaly, Leukocytosis, Splenomegaly, Skin rash, Lymphoma, Arthritis, Increased circulating I...	ORPHA:37748
Secondary Intestinal Lymphangiectasia	Vomiting, Decreased circulating IgA level, Malabsorption, Intussusception, Cirrhosis, Decreased c...	ORPHA:90363
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an...	OMIM:616098
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Rheumatoid arthritis, Epididymitis, Chronic sinusitis, Pneumonia, Decreased ci...	ORPHA:183675
Ebola Hemorrhagic Fever	Increased circulating antibody level, Melena, Lymphopenia, Abdominal pain, Maculopapular exanthem...	ORPHA:319218
Wiskott-Aldrich Syndrome	Melena, Lymphoproliferative disorder, Eczema, Diarrhea, Decreased mean platelet volume, Abnormal ...	OMIM:301000
Hereditary Mixed Polyposis Syndrome	Neoplasm of the rectum, Adenomatous colonic polyposis, Thyroid carcinoma, Intussusception, Prosta...	ORPHA:157794
Immunodeficiency 76	B-cell lymphoma, Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurr...	OMIM:619164
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Eczema, Vomiting, Macrocytic ...	OMIM:617780
Q Fever	Hepatomegaly, Maculopapular exanthema, Rheumatoid factor positive, Myocarditis, Antimitochondrial...	ORPHA:781
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Transcobalamin Ii Deficiency	Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased ci...	OMIM:275350
Blackfan-Diamond Anemia	High palate, Reticulocytopenia, Increased mean corpuscular volume, Erythroid hypoplasia, Macrocyt...	ORPHA:124
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen...	OMIM:202700
Autoimmune Polyendocrinopathy Type 4	Thymoma, Iridocyclitis, Hypergonadotropic hypogonadism, Rheumatoid arthritis, Macrocytic anemia, ...	ORPHA:227990
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Decreased circulating total IgM, Recurrent sinusitis, Recurrent ...	OMIM:613494
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Decreased circulating IgA level, Exocrine pancreatic insufficiency, Lymphopenia, Cryptorchidism, ...	OMIM:620005
Immunodeficiency, Common Variable, 10	Decreased circulating IgA level, Decreased circulating IgG level, Decreased response to growth ho...	OMIM:615577
Combined Immunodeficiency With Faciooculoskeletal Anomalies	Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in...	ORPHA:221139
Smith-Kingsmore Syndrome	Decreased circulating IgA level, Feeding difficulties, Large for gestational age, Rhizomelia, Cry...	OMIM:616638
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Hodgkin lymphoma, Hepatomegaly, Hemoph...	OMIM:615122
Sting-Associated Vasculopathy, Infantile-Onset	Failure to thrive, Antiphospholipid antibody positivity, Lymphopenia, Increased circulating IgA l...	OMIM:615934
Griscelli Syndrome, Type 2	Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocytosis	OMIM:607624
Autoimmune Polyendocrinopathy Type 3	Thymoma, Iridocyclitis, Hypergonadotropic hypogonadism, Rheumatoid arthritis, Autoimmune hypopara...	ORPHA:227982
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Crohn's disease, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Short stature, Hepatosplenomeg...	OMIM:618935
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Failure to thrive, Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low...	OMIM:602450
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia, Bronchiectasi...	OMIM:193670
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Wiskott-Aldrich Syndrome, Autosomal Dominant	Decreased specific anti-polysaccharide antibody level, Sinusitis, Lymphopenia, Increased circulat...	OMIM:600903
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Increased circulating IgA level, Hepatomegaly, Splenomegaly, Increased circula...	OMIM:617388
Immunodeficiency 98 With Autoinflammation, X-Linked	Recurrent otitis media, Decreased circulating IgG level, Hepatomegaly, Hemophagocytosis, Splenome...	OMIM:301078
Macrocephaly/Autism Syndrome	Lymphopenia, Hepatomegaly, Splenomegaly, Decreased circulating antibody level, Obesity	OMIM:605309
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death	Decreased circulating IgA level, Chromosome breakage, Abnormality of the thymus, Leukemia, Abnorm...	OMIM:208910
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Intrauterine growth retardation, Abnormality of chromosome stability, Pancytopenia	OMIM:600546
Immunodeficiency 104	Gastroesophageal reflux, Hepatomegaly, Splenomegaly, Otitis media, Eczema, Diarrhea, T lymphocyto...	OMIM:608971
Bone Marrow Failure Syndrome 4	Short stature, Leukopenia, Eczema, Rhizomelia, Decreased circulating antibody level, Bone marrow ...	OMIM:618116
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Decreased helper T cell proportion, T lymphocytopenia	OMIM:601705
Okur-Chung Neurodevelopmental Syndrome	High palate, Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level,...	OMIM:617062
Immunodeficiency 61	Malabsorption, Frequent Giardia lamblia infestation, Arthritis, Recurrent sinusitis, Colon cancer...	OMIM:300310
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media, Neutropenia, ...	OMIM:618986
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Decreased lymphocyte proliferation in response to anti-CD3, Failure to thrive, Recurrent otitis m...	OMIM:600802
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Exocrine pancreatic insufficiency, Neutropenia in presence of anti-neutropil antibodies, Hodgkin ...	OMIM:615952
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated circulating alkaline phosphatase concentration, Cholestasis, Antimitochondrial antibody ...	ORPHA:562639
Radial-Renal Syndrome	Chromosome breakage	OMIM:179280
Immunodeficiency 11	Decreased circulating antibody level, Pneumonia	OMIM:615206
Neuroendocrine Neoplasm Of Appendix	Bowel urgency, Ovarian neoplasm, Hepatomegaly, Constipation, Intestinal carcinoid, Poor appetite,...	ORPHA:100079
Chilblain Lupus	Increased circulating antibody level, Antiphospholipid antibody positivity, Systemic lupus erythe...	ORPHA:90280
Immunodeficiency 46	Failure to thrive, Chronic oral candidiasis, Decreased circulating antibody level, Intermittent t...	OMIM:616740
Xq28 (MECP2) duplication	Failure to thrive, Decreased circulating IgA level, Gastroesophageal reflux, Constipation, Feedin...	DECIPHER:45
Immunodeficiency 81	Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le...	OMIM:619374
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Bronchiectasis, Decreased circulating total IgM, Short stature	OMIM:615139
Immunodeficiency 68	Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia	OMIM:612260
Roifman Syndrome	Short stature, Hypogonadotropic hypogonadism, Eosinophilia, Hepatosplenomegaly, Eczema, Decreased...	ORPHA:353298
Thymoma	Rheumatoid arthritis, Aplastic anemia, Non-Hodgkin lymphoma, Abnormal lymphocyte proliferation, W...	ORPHA:99867
Familial Adenomatous Polyposis	Cholangiocarcinoma, Pancreatitis, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma,...	ORPHA:733
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Immune Deficiency, Familial Variable	Decreased circulating IgA level, Decreased circulating IgG level	OMIM:146830
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM	OMIM:300861
Fanconi Anemia, Complementation Group V	Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Chromosomal breakage induced ...	OMIM:617243
Punctate Palmoplantar Keratoderma Type 1	Esophageal neoplasm, Hodgkin lymphoma, Breast carcinoma, Stomach cancer, Prostate cancer, Melanom...	ORPHA:79501
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Simple Cryoglobulinemia	B-cell lymphoma, Multiple myeloma, Viral hepatitis, Nephritis, Abdominal pain, Complement deficie...	ORPHA:91139
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent gastroenteritis, Hepatomegaly, Diarrhea, Absence of lymph node germinal center, Panhypo...	ORPHA:79124
Cirrhosis, Familial	Cirrhosis, Increased circulating antibody level, Hepatitis, Chronic active hepatitis	OMIM:118900
Common Variable Immunodeficiency	Anal atresia, Lymphopenia, Splenomegaly, Gastrointestinal stroma tumor, Otitis media, Autoimmune ...	ORPHA:1572
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Decreased lymphocyte proliferation in response to anti-CD3, Hypoplasia of the thymus, Diarrhea, B...	OMIM:619313
N Syndrome	Cryptorchidism, Leukemia, Abnormality of chromosome stability, Neoplasm	OMIM:310465
Immunodeficiency 13	Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased circulating IgA level, Neutrophilia, Leukocytosis, Skin rash, Abdominal pain, Diarrhea,...	OMIM:617099
Agammaglobulinemia 5, Autosomal Dominant	High palate, Agammaglobulinemia	OMIM:613506
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Hemophagocytosis, Maculopapular exanthema, Thrombocytopenia, Erythroderma, Jaundice...	ORPHA:540
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent otitis media, Prostatitis, Sinusitis, Decreased response to growth hormone stimulation ...	OMIM:307200
Lymphangiectasia, Intestinal	Malabsorption, Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia	OMIM:152800
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Malabsorption, Decreased circulating antibody level, Lymphopenia	ORPHA:1116
Bone Marrow Failure Syndrome 5	Testicular atrophy, Short stature, Decreased circulating antibody level, Pure red cell aplasia, H...	OMIM:618165
Adult-Onset Still Disease	Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Skin rash, Abdominal pain, Myocarditis, A...	ORPHA:829
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Eczema, Diarrhea, B lymphocytopenia, Inflammatory abnormality of the skin, Oropharyngeal squamous...	ORPHA:391487
Lipodystrophy, Congenital Generalized, Type 4	Ileus, Decreased circulating IgA level, Failure to thrive, Hepatomegaly, Constipation, Feeding di...	OMIM:613327
Aspergillosis	Keratitis, Sinusitis, Osteomyelitis, Eosinophilia, Abnormal esophagus morphology, Hematological n...	ORPHA:1163
Gardner Syndrome	Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci...	ORPHA:79665
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Maternal Uniparental Disomy Of Chromosome 1	Failure to thrive, Gastroesophageal reflux, Hepatomegaly, Feeding difficulties, Short stature, Pa...	ORPHA:251009
Complement Component C1S Deficiency	Systemic lupus erythematosus, Hepatitis, Abnormality of complement system, Hashimoto thyroiditis	OMIM:613783
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Dec...	OMIM:612301
Boutonneuse Fever	Skin rash, Abdominal pain, Cervical lymphadenopathy, Maculopapular exanthema, Leukopenia, Diarrhe...	ORPHA:83313
Mogs-Cdg	Hydrocele testis, High palate, Decreased circulating IgA level, Decreased circulating IgG level, ...	ORPHA:79330
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia	OMIM:619693
Dubowitz Syndrome	High palate, Decreased circulating IgA level, Decreased circulating IgG level, Neuroblastoma, Vel...	OMIM:223370
Blue Rubber Bleb Nevus	Intestinal bleeding, Intussusception, Hemangioma, Volvulus, Iron deficiency anemia, Rectal prolap...	OMIM:112200
Trichothiodystrophy 3, Photosensitive	Failure to thrive, Increased circulating IgA level, Lymphopenia, Feeding difficulties, Short stat...	OMIM:616395
Autoinflammatory-Pancytopenia Syndrome	Failure to thrive, Growth delay, Cholestatic liver disease, Hemophagocytosis, Intestinal inflamma...	OMIM:619858
Fanconi Anemia, Complementation Group S	Failure to thrive, Narrow palate, Ovarian neoplasm, Chromosome breakage, Breast carcinoma, Short ...	OMIM:617883
Legionnaires Disease	Pancreatitis, Lymphopenia, Abdominal pain, Splenomegaly, Anorexia, Nausea and vomiting, Diarrhea,...	ORPHA:549
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy, Dysgammaglobulinemia	ORPHA:158014
Immunoglobulin M, Level Of	Decreased circulating total IgM	OMIM:308250
Purine Nucleoside Phosphorylase Deficiency	Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Neutropenia in pres...	OMIM:613179
Rasmussen Subacute Encephalitis	Decreased circulating total IgA, Antinuclear antibody positivity, Autoimmunity, Anti-dsDNA antibo...	ORPHA:1929
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Fanconi Anemia, Complementation Group F	Failure to thrive, Duodenal atresia, Cryptorchidism, Decreased response to growth hormone stimula...	OMIM:603467
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Congenital Disorder Of Glycosylation, Type Ia	Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly...	OMIM:212065
Dyskeratosis Congenita, Autosomal Recessive 5	Colitis, Leukopenia, Decreased circulating antibody level, Esophageal stenosis, Bone marrow hypoc...	OMIM:615190
Apc-Related Attenuated Familial Adenomatous Polyposis	Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod...	ORPHA:247806
Leishmaniasis	Increased circulating antibody level, Hepatomegaly, Rhinitis, Splenomegaly, Anorexia, Leukopenia,...	ORPHA:507
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased lymphocyte proliferation in response to mitogen, Capillary hemangioma, Lymphopenia, Dec...	ORPHA:508533
Wilson Disease	Failure to thrive, Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic failure, Cirrhosis,...	ORPHA:905
Halothane Hepatitis	Viral hepatitis, Eosinophilia, Hepatitis, Obesity, Jaundice	OMIM:234350
Sézary Syndrome	Cutaneous T-cell lymphoma, Hepatomegaly, Splenomegaly, Lymphoma, Abnormal immunoglobulin level, E...	ORPHA:3162
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	High palate, Short stature, Hepatosplenomegaly, Fibroma, Microcytic anemia, Decreased circulating...	OMIM:619750
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Thyroiditis, Neutropenia in presence of anti-neutropil antibodies, Smooth muscle antibody positiv...	ORPHA:228426
Lig4 Syndrome	Malabsorption, Hepatomegaly, Leukocytosis, Lymphoma, Pancytopenia, Growth delay, Cryptorchidism, ...	ORPHA:99812
Adult Idiopathic Neutropenia	Lymphopenia, Monocytosis, Helicobacter pylori infection, Increased circulating IgM level, Recurre...	ORPHA:2688
Autoinflammation With Infantile Enterocolitis	Failure to thrive, Enterocolitis, Skin rash, Splenomegaly, Short stature, Episodic vomiting, Redu...	OMIM:616050
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Eczematoid dermatitis, Lymphopenia, Aplasia of the thymus, Abnormally low T ce...	OMIM:242700
Immunodeficiency With Hyper-Igm, Type 4	Osteomyelitis, Recurrent infection of the gastrointestinal tract, Autoimmune thrombocytopenia, Ab...	OMIM:608184
Riddle Syndrome	Decreased circulating IgA level, Decreased circulating IgG level, Abdominal pain, Short stature, ...	ORPHA:420741
Xeroderma Pigmentosum, Complementation Group G	Growth delay, Defective DNA repair after ultraviolet radiation damage	OMIM:278780
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy...	ORPHA:231154
Fanconi Anemia, Complementation Group I	Decreased body weight, Decreased response to growth hormone stimulation test, Short stature, Bone...	OMIM:609053
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level, Hemangioma, Intestinal polyp, Large for gestational age, Cryptor...	ORPHA:457485
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent skin infections, Atrophic gastritis, Recurrent sinusitis, Decreased circulating antibod...	OMIM:616576
Fanconi Anemia, Complementation Group Q	Chromosome breakage, Short stature, Biliary atresia, Anteriorly placed anus, Bone marrow hypocell...	OMIM:615272
Hyper-Igd Syndrome	Increased circulating IgA level, Neutrophilia, Leukocytosis, Splenomegaly, Chronic oral candidias...	OMIM:260920
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6	Lymphopenia, Abnormally low T cell receptor excision circle level, Myelodysplasia, Decreased circ...	OMIM:619767
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	High palate, Growth delay, Decreased circulating antibody level, Pneumonia	OMIM:614069
Immunodeficiency 21	Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope...	OMIM:614172
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations	Lymphopenia, Neutropenia	OMIM:614868
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Sodium-Dependent Multivitamin Transporter Deficiency	Gastrostomy tube feeding in infancy, Episodic vomiting, Decreased circulating IgG level	OMIM:618973
Immunodeficiency 23	High palate, Failure to thrive, Hodgkin lymphoma, Lymphopenia, Eosinophilia, Abscess, Rheumatoid ...	OMIM:615816
Fanconi Anemia, Complementation Group O	Neonatal death, Cryptorchidism, Chromosome breakage	OMIM:613390
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Failure to thrive, Hepatomegaly, Elevated ...	OMIM:614576
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema	Chronic gastritis, Failure to thrive, Colitis, Decreased circulating IgG level, Eczema, Diarrhea,...	OMIM:608809
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level, Leukocytosis, Splenomegaly	OMIM:618042
Acquired Partial Lipodystrophy	Decreased serum complement C3, Lymphocytosis	ORPHA:79087
Fanconi Anemia, Complementation Group C	Neutropenia, Cryptorchidism, Small for gestational age, Short stature, Hypergonadotropic hypogona...	OMIM:227645
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Lymphoproliferative disorder, Eczema, Esophageal varix, Pancytopenia, Bone marrow h...	OMIM:615688
Attenuated Familial Adenomatous Polyposis	Adenomatous colonic polyposis, Papilloma, Large intestinal polyposis, Duodenal polyposis, Adenoca...	ORPHA:220460
Tularemia	Increased circulating antibody level, Conjunctivitis, Leukocytosis, Abnormal nasopharyngeal adeno...	ORPHA:3392
Familial Adenomatous Polyposis 1	Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade...	OMIM:175100
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Diarrhea, Hematochezia, Pneumonia, Pancytopenia, Weight loss, Intrauterine growth r...	OMIM:615846
Omenn Syndrome	Failure to thrive, Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B l...	OMIM:603554
Immunoglobulin Kappa Light Chain Deficiency	Diarrhea, Abnormal immunoglobulin level	OMIM:614102
Cutaneous Neuroendocrine Carcinoma	Multiple myeloma, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Lymphoid leukemia, Basa...	ORPHA:79140
Polymerase Proofreading-Related Adenomatous Polyposis	Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Endometrial carcinoma, A...	ORPHA:447877
Immunodeficiency, Common Variable, 6	Hepatomegaly, Decreased specific pneumococcal antibody level, Autoimmune thrombocytopenia, Chroni...	OMIM:613496
Primary Sjögren Syndrome	Chronic active hepatitis, Complement deficiency, Decreased serum complement C4, Lymphoproliferati...	ORPHA:289390
Good Syndrome	Abnormal leukocyte morphology, Thymoma, Bronchiectasis, Sinusitis, Recurrent skin infections, Dia...	ORPHA:169105
Immunodeficiency 59 And Hypoglycemia	High palate, Malabsorption, Hepatomegaly, Herpes simplex encephalitis, Short stature, Recurrent s...	OMIM:233600
Cowden Syndrome 1	Hydrocele testis, High palate, Thyroiditis, Lymphopenia, Breast carcinoma, Fibroadenoma of the br...	OMIM:158350
Graft Versus Host Disease	Recurrent gastroenteritis, Elevated circulating alkaline phosphatase concentration, Hemophagocyto...	ORPHA:39812
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome	Increased circulating antibody level, Crohn's disease, Pustule, Myositis, Arthritis, Increased in...	ORPHA:69126
Igg4-Related Aortitis	Increased circulating antibody level, Abdominal pain, Complement deficiency, Antinuclear antibody...	ORPHA:449400
Xeroderma Pigmentosum, Autosomal Dominant, Mild	Defective DNA repair after ultraviolet radiation damage	OMIM:194400
Immunodeficiency, Common Variable, 5	Antinuclear antibody positivity, Chronic decreased circulating total IgG	OMIM:613495
Agammaglobulinemia 1, Autosomal Recessive	Failure to thrive, Recurrent otitis media, B lymphocytopenia, Panhypogammaglobulinemia, Recurrent...	OMIM:601495
Medulloblastoma	Adenomatous colonic polyposis, Medulloblastoma, Neuroblastoma, Spinal cord tumor, Neoplasm of the...	ORPHA:616
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Pancreatitis, Ovarian neoplasm, Peripheral primitive neuroectodermal ne...	ORPHA:370348
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hodgkin lymphoma, Systemic lupus erythematosus, Hepatomegaly, Coombs-positive hemolytic anemia, S...	OMIM:619375
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Failure to thrive, Decreased response to growth hormone stimulation test, Psoriasiform dermatitis...	ORPHA:293978
Iga Pemphigus	Increased circulating IgA level, Pustule, Eosinophilia, Monoclonal elevation of circulating IgA, ...	ORPHA:555905
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Cholelithiasis, Failure to thrive, Hepatomegaly, Cleft palate, Severe B lymphocytopenia, Decrease...	ORPHA:83617
Brucellosis	Hepatomegaly, Rheumatoid factor positive, Vomiting, Myocarditis, Hypersplenism, Epididymitis, Pne...	ORPHA:1304
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD...	OMIM:150550
Candidiasis, Familial, 1	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:114580
Primary Biliary Cholangitis	Increased circulating IgA level, Elevated circulating alkaline phosphatase concentration, Abdomin...	ORPHA:186
Fanconi Anemia, Complementation Group D2	Annular pancreas, Neutropenia, Cryptorchidism, Small for gestational age, Short stature, Tracheoe...	OMIM:227646
Beta-Thalassemia	Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, H...	ORPHA:848
Schimke Immuno-Osseous Dysplasia	Pancreatitis, Lymphoproliferative disorder, Impaired T cell function, Non-Hodgkin lymphoma, Abnor...	ORPHA:1830
Popov-Chang syndrome	Failure to thrive, Gastroesophageal reflux, Lymphopenia, Feeding difficulties, Short stature, Dec...	OMIM:618428
Insulin-Resistance Syndrome Type B	Multiple myeloma, Pneumonia, Polycystic ovaries, Increased body weight, Weight loss, Enlarged pol...	ORPHA:2298
Hereditary Folate Malabsorption	Megaloblastic anemia, Failure to thrive, Cheilitis, Gastroesophageal reflux, Anorexia, Eosinophil...	ORPHA:90045
Angiostrongyliasis	Increased circulating IgA level, Constipation, Abdominal pain, Projectile vomiting, Increased cir...	ORPHA:74
Syndromic Diarrhea	Hepatomegaly, Hepatoblastoma, Gastritis, Panhypogammaglobulinemia, Intrauterine growth retardatio...	ORPHA:84064
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency	Decreased circulating IgG level, Anorexia, Diarrhea, Vomiting, Neutropenia, Abnormal intestine mo...	OMIM:600351
Drug Reaction With Eosinophilia And Systemic Symptoms	Lymphocytosis, Pustule, Skin rash, Acute hepatic failure, Eosinophilia, Interstitial pneumonitis,...	ORPHA:139402
Immune Deficiency Disease	Decreased circulating total IgM, Fulminant hepatitis, Cholangitis	OMIM:242850
Rift Valley Fever	Melena, Hematemesis, Skin rash, Anorexia, Increased circulating IgG level, Elevated hepatic trans...	ORPHA:319251
Bohring-Opitz Syndrome	Cholelithiasis, Annular pancreas, Medulloblastoma, Cleft palate, Severe failure to thrive, Short ...	ORPHA:97297
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Anal atresia, Lymphopenia, Eosinophilia, Hepatic cysts, Decreased circulating antibody level, Ery...	OMIM:617425
Alg12-Cdg	Failure to thrive, Partial absence of specific antibody response to Haemophilus influenzae type b...	ORPHA:79324
Bile Acid Synthesis Defect, Congenital, 3	Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenom...	OMIM:613812
Mutyh-Related Attenuated Familial Adenomatous Polyposis	Adenomatous colonic polyposis, Large intestinal polyposis, Adenocarcinoma of the colon, Rectal po...	ORPHA:247798
Prolidase Deficiency	High palate, Increased circulating antibody level, Failure to thrive, Systemic lupus erythematosu...	OMIM:170100
Schimke Immunoosseous Dysplasia	Lymphopenia, Small for gestational age, Protuberant abdomen, Thrombocytopenia, Pancytopenia, Disp...	OMIM:242900
Proteasome-Associated Autoinflammatory Syndrome 3	Increased circulating antibody level, Failure to thrive, Sinusitis, Lymphopenia, Hepatomegaly, Pa...	OMIM:617591
Congenital Bile Acid Synthesis Defect Type 2	Failure to thrive, Giant cell hepatitis, Hepatomegaly, Postnatal growth retardation, Elevated cir...	ORPHA:79303
Mirage Syndrome	Decreased body weight, Lymphopenia, Cryptorchidism, Gastroesophageal reflux, Short stature, Aspir...	OMIM:617053
Immunodeficiency 56	Failure to thrive, Recurrent infection of the gastrointestinal tract, Chronic hepatitis due to cr...	OMIM:615207
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Chromosomal breakage induced by crosslinking agents	OMIM:619060
Inflammatory Pseudotumor Of The Liver	Abnormal liver sonography, Neoplasm of the liver, Abdominal distention, Abdominal pain, Increased...	ORPHA:90003
Cryoglobulinemic Vasculitis	Hepatomegaly, Circulating immune complexes, Viral hepatitis, Splenomegaly, Abdominal pain, Cryogl...	ORPHA:91138
Lambert Syndrome	Intrauterine growth retardation, Intrahepatic biliary atresia, Cholestasis, Decreased circulating...	ORPHA:1296
Microsporidiosis	Keratitis, Pancreatitis, Lymphadenitis, Vomiting, Myocarditis, Biliary tract abnormality, Glossit...	ORPHA:2552
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Hematological neoplasm, Abnormal proportion of CD4-...	ORPHA:217260
Fragile X Syndrome	Folate-dependent fragile site at Xq28	OMIM:300624
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Immunodeficiency 58	Eczema, Helicobacter pylori infection, Decreased specific antibody response to vaccination, Colit...	OMIM:618131
Burkitt Lymphoma	Abdominal pain, Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pan...	ORPHA:543
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Decreased circula...	OMIM:616084
Monosomy 9Q22.3	Medulloblastoma, Feeding difficulties, Odontogenic keratocysts of the jaw, Nephroblastoma, Rhabdo...	ORPHA:77301
Cartilage-Hair Hypoplasia	Failure to thrive, Malabsorption, Disproportionate short-limb short stature, Hepatomegaly, Agangl...	ORPHA:175
Thymic Tumor	Neuroendocrine neoplasm, Neoplasm of the thymus, Mediastinal lymphadenopathy, Autoimmunity, Dysga...	ORPHA:100100
Monosomy 18Q	High palate, Slender build, Decreased circulating IgA level, Failure to thrive, Short stature, Se...	ORPHA:1600
Spondyloenchondrodysplasia	Systemic lupus erythematosus, Decreased response to growth hormone stimulation test, Enchondroma,...	ORPHA:1855
Fanconi Anemia, Complementation Group A	Neutropenia, Cryptorchidism, Small for gestational age, Short stature, Hypergonadotropic hypogona...	OMIM:227650
Dominant Beta-Thalassemia	Decreased mean corpuscular volume, Anisocytosis, Diarrhea, Jaundice, Failure to thrive in infancy...	ORPHA:231226
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Failure to thrive, Adrenocorticotropic hormone deficiency, Pituitary adenoma,...	ORPHA:199299
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Cystic Echinococcosis	Increased circulating antibody level, Abnormality of the testis size, Cholestatic liver disease, ...	ORPHA:400
Fanconi Anemia, Complementation Group L	Anal atresia, Intrauterine growth retardation, Chromosome breakage, Cleft palate, Feeding difficu...	OMIM:614083
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Basal Cell Nevus Syndrome	Hamartomatous stomach polyps, Medulloblastoma, Cleft palate, Odontogenic keratocysts of the jaw, ...	OMIM:109400
Whim Syndrome	Papilloma, Sinusitis, Lymphopenia, Cutaneous melanoma, Otitis media, Lymphadenitis, Severe period...	ORPHA:51636
Zika Virus Disease	Conjunctivitis, Skin rash, Maculopapular exanthema, Myelitis, Vomiting, Arthritis, Increased circ...	ORPHA:448237
Pyoderma Gangrenosum	Increased circulating antibody level, Pustule, Rheumatoid arthritis, Myeloid leukemia, Inflammati...	ORPHA:48104
Fanconi Anemia, Complementation Group E	Neutropenia, Cryptorchidism, Small for gestational age, Short stature, Hypergonadotropic hypogona...	OMIM:600901
Avian Influenza	Lymphopenia, Abdominal pain, Leukopenia, Diarrhea, Myelitis, Vomiting, Increased circulating lact...	ORPHA:454836
Netherton Syndrome	Failure to thrive, Decreased circulating IgG level, Intestinal atresia, Allergic rhinitis, Villou...	OMIM:256500
Familial Multinodular Goiter	Sertoli cell neoplasm, Thyroid carcinoma, Ovarian neoplasm, Pleuropulmonary blastoma, Medulloepit...	ORPHA:276399
Mccune-Albright Syndrome	Elevated circulating growth hormone concentration, Pancreatitis, Gastroesophageal reflux, Benign ...	ORPHA:562
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Mgat2-Cdg	Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Decreased circulati...	ORPHA:79329
Kimura Disease	Eosinophilia, Increased circulating IgE level	ORPHA:482
Insulin Autoimmune Syndrome	Increased circulating antibody level, Systemic lupus erythematosus, Autoimmune antibody positivit...	ORPHA:411593
Congenital Enterovirus Infection	Leukocytosis, Hepatic failure, Skin rash, Leukopenia, Cholestasis, Abnormal macrophage morphology...	ORPHA:292
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Malabsorption, Hepatomegaly, Abdominal pain, Diarrhea, Vomiting, Iron deficiency anemia, Intestin...	OMIM:226300
Fragile X Syndrome	Folate-dependent fragile site at Xq28	ORPHA:908
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level, Short stature	ORPHA:1951
Immunodeficiency 31C	Lymphopenia, Short stature, Delayed puberty, Autoimmune hemolytic anemia, Growth delay	OMIM:614162
Glioma Susceptibility 3	Medulloblastoma, Astrocytoma, Glioblastoma multiforme	OMIM:613029
Immunodeficiency 15B	Agammaglobulinemia, Failure to thrive, Decreased circulating antibody level, Chronic diarrhea	OMIM:615592
Ravine Syndrome	Atrophy/Degeneration affecting the brainstem, Abnormal brainstem morphology	ORPHA:99852
Fanconi Anemia, Complementation Group U	Patent ductus arteriosus, Chromosome breakage	OMIM:617247
Hyperimmunoglobulinemia D With Periodic Fever	Growth delay, Increased circulating IgA level, Hepatomegaly, Abdominal pain, Peritonitis, Diarrhe...	ORPHA:343
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Lymphopenia	ORPHA:2582
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Nephritis, Macroglossia, Splenomegaly, Leukopenia, Macrovesicular hepatic steatosis...	OMIM:617303
Obesity Due To Congenital Leptin Deficiency	Hypoplasia of the ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Decreased T cell act...	ORPHA:66628
Vici Syndrome	Failure to thrive, Decreased circulating IgG level, Cleft palate, Decreased T cell activation, De...	OMIM:242840
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Neutropenia, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Abnormal circu...	ORPHA:158057
Postinfectious Vasculitis	Unusual gastrointestinal infection, Rheumatoid factor positive, Increased inflammatory response, ...	ORPHA:48435
Bile Acid Synthesis Defect, Congenital, 1	Failure to thrive, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Steatorrhea, Cirrhosis, Hepa...	OMIM:607765
Fanconi Anemia, Complementation Group B	Intrauterine growth retardation, Duodenal atresia, Hypergonadotropic hypogonadism, Tracheoesophag...	OMIM:300514
Mannosidosis, Alpha B, Lysosomal	Hepatomegaly, Vacuolated lymphocytes, Macroglossia, Splenomegaly, Decreased circulating antibody ...	OMIM:248500
Obesity Due To Leptin Receptor Gene Deficiency	Hypoplasia of the ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Decreased T cell act...	ORPHA:179494
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Decreased circulating IgA level, Gastroesophageal reflux, High, narrow palate...	ORPHA:369837
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Cryptorchidism, Decreased circulating antibody level, Intrauterine growth ret...	OMIM:616910
Nijmegen Breakage Syndrome	Anal atresia, Neoplasm, B-cell lymphoma, Glioma, Cleft palate, Short stature, Cachexia, Rhabdomyo...	ORPHA:647
Idiopathic Hypereosinophilic Syndrome	Pancreatitis, Neutrophilia, Cervical lymphadenopathy, Eczema, Vomiting, Erythroderma, Portal fibr...	ORPHA:3260
Familial Multiple Lipomatosis	Odontogenic keratocysts of the jaw, Medulloblastoma, Functional intestinal obstruction	ORPHA:199276
Myasthenia Gravis	Systemic lupus erythematosus, Anti-muscle-specific tyrosine kinase antibody, Rheumatoid arthritis...	ORPHA:589
Cyanosis And Hepatic Disease	Hepatitis	OMIM:219400
Gaucher Disease Type 1	Increased circulating antibody level, Hepatomegaly, Abdominal pain, Splenomegaly, Anorexia, Cirrh...	ORPHA:77259
Rhabdoid Tumor Predisposition Syndrome 1	Choroid plexus carcinoma, Medulloblastoma	OMIM:609322
Combined Immunodeficiency-Enteropathy Spectrum	Intrauterine growth retardation, Bloody diarrhea, Abdominal distention, Intestinal atresia, Intes...	ORPHA:436252
Myotonic Dystrophy 2	Decreased circulating IgG level, Decreased circulating total IgM, Oligospermia, Hypogonadism, Ele...	OMIM:602668
Pleuropulmonary Blastoma	Pleuropulmonary blastoma, Rhabdomyosarcoma, Medulloblastoma	OMIM:601200
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level, Short stature	OMIM:208600
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Colitis, Lymphopenia, Skin rash, Anterior uveitis, Hemolytic anemia, Ileal ulcer, Lupus anticoagu...	OMIM:616744
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Failure to thrive, Bloody diarrhea, Defective T cell proliferation, Leukocytosis, Hypochromic ane...	OMIM:618213
Zygomycosis	Melena, Pancreatitis, Gastritis, Unusual gastrointestinal infection, Diarrhea, Vomiting, Acute in...	ORPHA:73263
Panniculitis-Induced Localized Lipodystrophy	Antinuclear antibody positivity, Inflammatory abnormality of the skin, Abnormal immunoglobulin level	ORPHA:90159
Gaucher Disease	Increased circulating antibody level, Osteomyelitis, Hepatomegaly, Abdominal pain, Splenomegaly, ...	ORPHA:355
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Weight loss, Decr...	ORPHA:29073
Bacterial Toxic-Shock Syndrome	Abscess, Diarrhea, Vomiting, Myocarditis, Pneumonia, Septic arthritis, Increased circulating myel...	ORPHA:36234
Mevalonic Aciduria	Failure to thrive, Fluctuating hepatomegaly, Morbilliform rash, Leukocytosis, Fluctuating splenom...	OMIM:610377
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Failure to thrive, Hepatomegaly, Splenomegaly, Short stature, Impaired T cell function, Low alkal...	OMIM:201100
Hyperimmunoglobulin G1(A1) Syndrome	Increased circulating IgA level, Increased circulating IgG level	OMIM:144120
Porphyria Cutanea Tarda	Recurrent bacterial skin infections, Systemic lupus erythematosus, Viral hepatitis, Periportal fi...	ORPHA:101330
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8 concentration, Hepatomegaly, Thrombocytopenia, Epididymitis, ...	OMIM:256040
Subependymoma	Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ...	ORPHA:251639
Ependymoma	Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ...	ORPHA:251636
Xeroderma Pigmentosum, Complementation Group F	Defective DNA repair after ultraviolet radiation damage, Deficient excision of UV-induced pyrimid...	OMIM:278760
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgA level, Xerostomia, Antinuclear antibody positivity, Myositis, Keratocon...	ORPHA:79078
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Abnormal dense granule content, Neuroblastoma, Acute monocytic leukemia, Lymphoma, Myelodysplasia...	OMIM:601399
Melioidosis	Splenic abscess, Prostatitis, Osteoarthritis, Brain abscess, Abnormality of the spleen, Parotitis...	ORPHA:31202
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Steatorrhea, Short stature, Severe postnatal growth retardation, Hypoc...	ORPHA:440713
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Decreased circulating antibody level, Cleft palate	ORPHA:85317
Igg4-Related Submandibular Gland Disease	Increased circulating antibody level, Abnormal pancreas morphology, Sialadenitis, Prostatitis, Co...	ORPHA:449432
Pneumocystosis	Increased circulating antibody level, Neoplasm, Chronic oral candidiasis, Interstitial pneumoniti...	ORPHA:723
Lissencephaly Syndrome, Norman-Roberts Type	Dysphagia, Intrauterine growth retardation, Hypoplastic spleen, Feeding difficulties	ORPHA:89844
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Say-Barber-Miller Syndrome	High palate, Transient hypogammaglobulinemia of infancy, Decreased circulating IgG level, Short s...	ORPHA:3132
Aregenerative Anemia	Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, E...	ORPHA:101096
Acute Panmyelosis With Myelofibrosis	Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Bone marrow hypocellula...	ORPHA:86843
Medulloblastoma	Medulloblastoma	OMIM:155255
Revesz Syndrome	Oral leukoplakia, Aplastic anemia, Bone marrow hypocellularity, Intrauterine growth retardation, ...	OMIM:268130
Igg4-Related Kidney Disease	Pancreatitis, Complement deficiency, Lymphadenitis, Decreased serum complement C4, Rheumatoid fac...	ORPHA:449395
Complement Component 4B Deficiency	Chronic active hepatitis, Decreased serum complement C4b, Recurrent sinusitis, Recurrent pneumoni...	OMIM:614379
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Lymphopenia, Short stature, Leukopenia, Eczema, B lymphocytopenia, Rhizomelic arm shortening, Mye...	ORPHA:508542
Hennekam Syndrome	Malabsorption, Lymphangioma, Lymphopenia, Mild postnatal growth retardation, Splenomegaly, Pulmon...	ORPHA:2136
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Malabsorption, Lymphopenia, Abnormality of the pancreas, Agammaglobulinemia, Anemia, Aganglionic ...	ORPHA:935
Lysinuric Protein Intolerance	Pancreatitis, Hepatomegaly, Hemophagocytosis, Steatorrhea, Hepatic failure, Complement deficiency...	ORPHA:470
Hemophagocytic Syndrome Associated With An Infection	Neutropenia, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, Abnormal cytoki...	ORPHA:158048
Alveolar Echinococcosis	Cutaneous abscess, Increased circulating antibody level, Decreased liver function, Pancreatic cys...	ORPHA:284
Refractory Celiac Disease	Malabsorption, Inflammatory abnormality of the skin, Abdominal pain, Increased proportion of HLA ...	ORPHA:398063
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Failure to thrive, Giant cell hepatitis, Cholestatic liver disease, Intrahepatic biliary atresia,...	OMIM:208085
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Midline brainstem cleft, Fusion of the left and right thalami, Hypoplasia of the pons, Agenesis o...	OMIM:617542
Immunodeficiency 67	Increased circulating IgE level, Liver abscess, Transient neutropenia	OMIM:607676
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Transient hypogammaglobulinemia of infancy, Hypogonadism	OMIM:251240
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased mean corpuscular volume, Hepatocellular necrosis, Failure to thrive, Decreased circulat...	OMIM:618278
Ring Chromosome 21 Syndrome	Amenorrhea, Infertility, Short stature, Decreased circulating antibody level, Azoospermia	ORPHA:1445
Fanconi Anemia	High palate, Absent testis, Decreased fertility in males, Cleft palate, Tracheoesophageal fistula...	ORPHA:84
Platelet Disorder, Undefined	Hematological neoplasm, Thrombocytopenia, Impaired platelet aggregation, Neuroblastoma	OMIM:173420
Trichohepatoenteric Syndrome 2	Failure to thrive, Bloody diarrhea, Colitis, Hepatomegaly, Small for gestational age, Cirrhosis, ...	OMIM:614602
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Agenesis of corpus callosum, Abnormal brainstem morphology	ORPHA:255182
Inflammatory Bowel Disease 29	Crohn's disease, Ulcerative colitis	OMIM:618077
Trichohepatoenteric Syndrome 1	Failure to thrive, Intrauterine growth retardation, Intractable diarrhea, Hepatomegaly, Splenomeg...	OMIM:222470
African Iron Overload	Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,...	ORPHA:139507
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatomegaly, Splenomegaly, Increased red cell hemolysis by shear stress, Increas...	OMIM:194380
Pearson Syndrome	Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Hepatic failure, Median cleft lip a...	ORPHA:699
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome	Abnormal brainstem MRI signal intensity	ORPHA:263410
Congenital Disorder Of Glycosylation, Type Iih	Elevated circulating aspartate aminotransferase concentration, Failure to thrive in infancy, Elev...	OMIM:611182
Waldenström Macroglobulinemia	Malabsorption, Hepatomegaly, Splenomegaly, Anorexia, Cryoglobulinemia, Diarrhea, Normocytic anemi...	ORPHA:33226
Tick-Borne Encephalitis	Leukocytosis, Anorexia, Leukopenia, Myelitis, Increased circulating IgG level, Vomiting, Abnormal...	ORPHA:297
Gómez-López-Hernández Syndrome	Abnormal brainstem morphology	ORPHA:1532
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Cleft palate, Hepatic failure, Cervical lymphadenopathy, Elevated circulating aspar...	OMIM:619573
Coccidioidomycosis	Pancreatitis, Abscess, Pneumonia, Pericarditis, Abnormal sperm morphology, Lymphadenopathy, Osteo...	ORPHA:228123
Sweet Syndrome	Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration...	ORPHA:3243
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Exocrine pancreatic insufficiency, Steatorrhea, Cirrhosis, Chronic hepatitis, Keratoconj...	OMIM:269200
Pontocerebellar Hypoplasia Type 10	Abnormal brainstem morphology	ORPHA:411493
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level, Small for gestational age	OMIM:300076
Neuronal Intestinal Pseudoobstruction	Patent ductus arteriosus, Malabsorption, Decreased circulating antibody level	ORPHA:99811
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Cholelithiasis, Hypoparathyroidism, Malabsorption, Chronic active hepatitis, Iridocyclitis, Chron...	OMIM:240300
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Increased circulating interleukin 6 concentration, Chronic gastritis, Colitis, Lymphocytosis, Ski...	OMIM:301074
Wiskott-Aldrich Syndrome	Keratitis, Otitis media, Eczema, Hematochezia, Blepharitis, Conjunctivitis, Inflammation of the l...	ORPHA:906
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma...	OMIM:618849
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro...	OMIM:608203
Leukocyte Adhesion Deficiency Type Ii	Recurrent gastroenteritis, Failure to thrive, Keratitis, Narrow palate, Abnormal isohemagglutinin...	ORPHA:99843
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Hiatus hernia, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Splenic...	OMIM:610199

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