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Gene: Fkbp11 MGI:1913370

Gene Summary

Name:

FK506 binding protein 11

Synonyms:

1110002O23Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage
enlarged lymph nodes	Fkbp11^em1(IMPC)Mbp	HOM	Early adult
abnormal eye morphology	Fkbp11^em1(IMPC)Mbp	HOM	Early adult
abnormal spleen morphology	Fkbp11^em1(IMPC)Mbp	HOM	Early adult
abnormal brain morphology	Fkbp11^em1(IMPC)Mbp	HOM	Early adult
abnormal lymph node morphology	Fkbp11^em1(IMPC)Mbp	HOM	Early adult
small spleen	Fkbp11^em1(IMPC)Mbp	HOM	Early adult

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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.

X-ray

XRay Images Whole Body Dorso Ventral

116 Images

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X-ray

XRay Images Whole Body Lateral Orientation

40 Images

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Human diseases caused by Fkbp11 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 Fkbp11 (0 diseases)
Human diseases predicted to be associated with Fkbp11 (488 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Fkbp11 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Tuftsin Deficiency	Abnormality of the spleen	OMIM:191150
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Buschke-Ollendorff Syndrome	Joint stiffness, Flexion contracture, Osteopoikilosis	OMIM:166700
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Ossification Of The Posterior Longitudinal Ligament Of Spine	Increased bone mineral density, Ectopic ossification	OMIM:602475
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Ribbing Disease	Diaphyseal sclerosis	OMIM:601477
Melorheostosis With Osteopoikilosis	Abnormal cortical bone morphology, Osteopoikilosis	ORPHA:1879
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Clavicular sclerosis	OMIM:615198
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology	ORPHA:3416
Isolated Osteopoikilosis	Sclerotic foci in hand bones, Abnormal bone ossification, Sclerotic foci within carpal bones, Tar...	ORPHA:166119
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density	OMIM:241520
Osteochondrosis Of The Metatarsal Bone	Arthritis, Chondritis, Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones	ORPHA:564003
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Decreased circulating IgG level, Increased circulating Ig...	OMIM:608106
Kerion Celsi	Lymphadenopathy	ORPHA:499
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve...	OMIM:606843
Ige Responsiveness, Atopic	Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis	OMIM:147050
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Recurrent otitis media, Increased circulating interleukin 6 concentration, Increased circulating ...	OMIM:618944
Mueller-Weiss Syndrome	Knee osteoarthritis, Arthritis, Limitation of movement at ankles, Joint stiffness, Chondritis, Sc...	ORPHA:566943
Immunodeficiency 86	Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst	OMIM:619549
Endosteal Hyperostosis, Worth Type	Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial...	ORPHA:2790
Osteopetrosis, Autosomal Dominant 2	Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Bone marrow ...	OMIM:166600
Melorheostosis	Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in muscle tissue, J...	ORPHA:2485
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level, Late onset atopic dermatitis	OMIM:221700
Flynn-Aird Syndrome	Increased bone mineral density, Joint stiffness, Osteoporosis, Increased bone density with cystic...	OMIM:136300
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re...	OMIM:605258
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis	ORPHA:178377
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Cortical thickening of long bone diaphyses	OMIM:166740
Sclerosteosis	Increased bone mineral density, Abnormal cortical bone morphology, Craniofacial hyperostosis	ORPHA:3152
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Osteopetrosis, Autosomal Dominant 1	Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteoscleros...	OMIM:607634
Kimura Disease	Follicular hyperplasia, Eosinophilia, Lymphadenopathy	ORPHA:482
Schnitzler Syndrome	Increased bone mineral density, Arthritis, Increased circulating IgM level, Skin rash	ORPHA:37748
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Ceroid storage disease	Abnormality of the spleen	OMIM:214200
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Intermediate Osteopetrosis	Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Generalized osteosc...	ORPHA:210110
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Atopic dermatitis, Osteoporosis, Eosinophilic infiltration of th...	OMIM:620532
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Increased circulating IgE level, Atopic dermatitis, Colonic eosinophilia, Bronchiectas...	OMIM:617638
Ghosal Hematodiaphyseal Dysplasia	Increased bone mineral density, Bone marrow hypocellularity, Hyperostosis cranialis interna, Myel...	OMIM:231095
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Recurrent otitis media, Abnormal immunoglobulin level, Increased circulating IgG leve...	ORPHA:98813
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Gnathodiaphyseal Dysplasia	Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures	OMIM:166260
Agammaglobulinemia 4, Autosomal Recessive	Recurrent otitis media, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulati...	OMIM:613502
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM	OMIM:153600
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM	OMIM:236000
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Immunodeficiency 25	Increased circulating IgG level, Complete or near-complete absence of specific antibody response ...	OMIM:610163
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr...	OMIM:619846
Immunodeficiency 50	Decreased circulating antibody level, Eczematoid dermatitis	OMIM:300988
Endosteal Hyperostosis, Autosomal Dominant	Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Metatarsal diaphys...	OMIM:144750
Caspase 8 Deficiency	Reduced CD95-induced lymphocyte apoptosis, Complete or near-complete absence of specific antibody...	OMIM:607271
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial osteosclerosis, Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis	OMIM:122860
Burkitt Lymphoma	Abnormal lymph node morphology, Decreased proportion of CD4-positive helper T cells, Abnormality ...	ORPHA:543
Immunodeficiency, Common Variable, 14	Decreased specific antibody response to vaccination, Decreased circulating IgG level, Recurrent s...	OMIM:617765
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Immunodeficiency 95	Increased circulating IgG3 level, Decreased circulating IgG3 level, Recurrent viral pneumonia	OMIM:619773
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count	ORPHA:100024
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Osteopetrosis, Cortical sclerosis, Pathologic fracture	OMIM:620366
Severe Combined Immunodeficiency, X-Linked	Chronic oral candidiasis, Decreased circulating IgE, Skin rash, Decreased circulating IgG level, ...	OMIM:300400
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ...	ORPHA:70593
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly...	OMIM:603552
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Recurrent otitis media, Increased circulating IgG level, Herpes simplex encephalitis, Increased c...	OMIM:618982
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent otitis media, Increased circulating IgE level, Eczematoid dermatitis, Keratitis, Bronch...	OMIM:618523
Alpha-Heavy Chain Disease	Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy	ORPHA:100025
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Chronic mucocutaneous candidiasis, Cutaneous abscess, Atopic der...	OMIM:619752
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy	OMIM:618987
Agammaglobulinemia 6, Autosomal Recessive	Recurrent otitis media, Decreased circulating IgG level, Recurrent pneumonia, Conjunctivitis, Dec...	OMIM:612692
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Caffey Disease	Increased circulating antibody level, Calvarial hyperostosis, Periosteal thickening of long tubul...	ORPHA:1310
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells...	OMIM:300853
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Increased circulating IgE level, Crohn's disease, Inflammation o...	OMIM:615767
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Recurrent sinusitis, Decreased circulating total IgM, Agammaglob...	OMIM:619707
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Chronic oral candidiasis, Recurrent otitis media, Increased circulating IgE level, Chronic mucocu...	OMIM:618282
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:613101
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Agammaglobulinemia 2, Autosomal Recessive	Recurrent otitis media, Recurrent pneumonia, Decreased circulating total IgM, Agammaglobulinemia,...	OMIM:613500
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:97290
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Increased circulating antibody level, Glomerulonephritis	OMIM:247800
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia	OMIM:608184
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:319487
Majeed Syndrome	Acne, Increased bone mineral density, Synovitis, Pustule, Inflammatory abnormality of the skin, F...	ORPHA:77297
Papa Syndrome	Increased circulating antibody level, Myositis, Arthritis, Crohn's disease, Limitation of joint m...	ORPHA:69126
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Glomerulonephritis	OMIM:314000
Immunodeficiency 27A	Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged...	OMIM:209950
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Osteopetrosis, Autosomal Recessive 4	Increased bone mineral density, Osteopetrosis, Recurrent fractures	OMIM:611490
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Reduced delayed hypersensitivity, Increased circulating IgE level, Reduced antigen-specific T cel...	OMIM:617241
Immunodeficiency 18	Defective T cell proliferation, Recurrent otitis media, Abnormal circulating IgG level, Recurrent...	OMIM:615615
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node hypoplasia, Sple...	OMIM:602450
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Furuncle, Recurrent sinusi...	OMIM:618969
Immunodeficiency With Hyper-Igm, Type 1	Chronic oral candidiasis, Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis...	OMIM:308230
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Decrease...	OMIM:615559
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent otitis media, Increased circulating IgE level, Lack of T cell function, Sinusitis, Recu...	ORPHA:277
Lethal Recessive Chondrodysplasia	Generalized osteosclerosis	ORPHA:1423
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, Recurrent otitis media	OMIM:616941
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Immunodeficiency 15B	Chronic oral candidiasis, Agammaglobulinemia, Decreased circulating antibody level, Decreased lym...	OMIM:615592
Immunodeficiency 109 With Lymphoproliferation	Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia	OMIM:620282
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Agammaglobulinemia 7, Autosomal Recessive	Erythema nodosum, Agammaglobulinemia, Panhypogammaglobulinemia	OMIM:615214
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100083
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio	OMIM:618495
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8...	OMIM:150550
Autoinflammatory Disease, Systemic, X-Linked	Panniculitis, Optic neuritis, Complete or near-complete absence of specific antibody response to ...	OMIM:301081
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia	OMIM:240500
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 23 concentration, Reduced circulating interleukin 22 concentratio...	OMIM:619632
Activated Pi3K-Delta Syndrome	Recurrent otitis media, Arthritis, Decreased circulating antibody level, Bronchiectasis, Increase...	ORPHA:397596
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly	OMIM:611762
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Osteopetrosis, Autosomal Recessive 2	Chronic rhinitis due to narrow nasal airway, Cranial hyperostosis, Osteopetrosis, Diaphyseal scle...	OMIM:259710
Osteopetrosis, Autosomal Recessive 1	Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Increased bone mineral density, Patholog...	OMIM:259700
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Cold Agglutinin Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy, Hemolytic anemia	ORPHA:56425
Panniculitis-Induced Localized Lipodystrophy	Inflammatory abnormality of the skin, Abnormal immunoglobulin level	ORPHA:90159
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m...	ORPHA:90650
Immunodeficiency 11A	Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife...	OMIM:615206
Immunodeficiency 37	Decreased circulating antibody level, Infectious encephalitis, Colitis	OMIM:616098
Chondrodysplasia, Blomstrand Type	Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification	OMIM:215045
Albers-Schönberg Osteopetrosis	Arthritis, Recurrent fractures, Osteoarthritis, Generalized osteosclerosis, Mandibular osteomyeli...	ORPHA:53
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Panhypogammaglobulinemia, Arthritis, Purulent rhinitis, Otitis media, Conjunctivitis, Pneumonia	OMIM:601457
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Classic Mycosis Fungoides	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:2584
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Abnormal lymph node morphology, Anemia, Abnormality of the lymphatic system, Neutr...	ORPHA:54251
Pseudomyxoma Peritonei	Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Thyroiditis, Increased circulating IgE level, Eczematoid dermatitis	OMIM:618985
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Lymphoproliferative Syndrome, X-Linked, 2	Decreased circulating antibody level, Folliculitis, Inflammation of the large intestine, Acne, Er...	OMIM:300635
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level	OMIM:616636
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Gastritis, Skin rash, Decreased circulating antibody level, Partial absence of ...	OMIM:618108
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia, Cervical lymphadenopathy, Inguinal lymphadenopathy	OMIM:620514
Spondyloepiphyseal Dysplasia Tarda	Localized osteoporosis, Limited elbow movement, Stiff knee, Hip osteoarthritis, Increased bone mi...	ORPHA:93284
Combined Immunodeficiency Due To Dock8 Deficiency	Chronic otitis media, Increased circulating IgE level, Recurrent bacterial skin infections, Atopi...	ORPHA:217390
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:391
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hepatosplenomegal...	OMIM:615122
Immunodeficiency 54	Lymphadenopathy, Reduced natural killer cell count, Splenomegaly, Hepatomegaly	OMIM:609981
Klatskin Tumor	Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Congenital Toxoplasmosis	Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Thrombocytopenia	ORPHA:858
Transcobalamin Deficiency	Decreased circulating IgG level, Decreased circulating antibody level, Decreased circulating IgA ...	ORPHA:859
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Arthritis, Crohn's disease, Decreased circulating antibody level, Eczematoid dermatitis, Decrease...	OMIM:616100
Dysosteosclerosis	Increased bone mineral density, Coarse metaphyseal trabecularization, Recurrent fractures, Cranio...	ORPHA:1782
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, ...	ORPHA:507
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Increased circulating IgE level, Recurrent pneumonia	OMIM:616069
Diastrophic Dysplasia	Increased bone mineral density, Joint stiffness, Camptodactyly of finger, Joint hypermobility	ORPHA:628
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Increased bone mineral density, Coarse metaphyseal trabecularization, Sclerosis of mi...	ORPHA:85188
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent otitis media, Sclerosing cholangitis, Increased circulating IgG level, Increased circul...	OMIM:243700
Osteogenesis Imperfecta, Type Xiii	Reduced bone mineral density, Limitation of knee mobility, Increased bone mineral density, Osteop...	OMIM:614856
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ...	OMIM:619313
Primary Myelofibrosis	Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte...	ORPHA:824
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu...	OMIM:308240
Heme Oxygenase 1 Deficiency	Hepatomegaly, Lymphadenopathy, Asplenia, Coombs-positive hemolytic anemia, Thrombocytosis, Cervic...	OMIM:614034
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Diaphyseal cortical sclerosis, Osteopenia, Fractures of the long bones, Patchy osteosclerosis, Os...	OMIM:112250
Trichothiodystrophy 6, Nonphotosensitive	Increased bone mineral density, Coronal craniosynostosis	OMIM:616943
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Immunodeficiency, Common Variable, 12, With Autoimmunity	Decreased circulating antibody level, Recurrent pneumonia, Recurrent sinusitis, Atrophic gastriti...	OMIM:616576
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Abnormal bone ossification, Delayed patellar ossification	ORPHA:163649
Pseudohypoparathyroidism Type 1B	Increased bone mineral density, Conjunctivitis, Increased bone density with cystic changes, Diaph...	ORPHA:94089
Osteopetrosis, Autosomal Recessive 7	Femur fracture, Osteopetrosis, Decreased circulating IgG level, Abnormal trabecular bone morpholo...	OMIM:612301
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Increased circulating antibody level, Erythroderma, Decreased circulati...	ORPHA:169160
Craniometaphyseal Dysplasia	Osteopetrosis, Craniofacial hyperostosis	ORPHA:1522
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Tularemia	Cervical lymphadenopathy, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Leukocytosis, Thr...	ORPHA:3392
Cinca Syndrome	Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Eosinophilia	OMIM:607115
Erythema Elevatum Diutinum	Skin rash, Increased circulating antibody level	ORPHA:90000
Beemer-Ertbruggen Syndrome	Increased bone mineral density	ORPHA:1237
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai...	ORPHA:276
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ...	ORPHA:83469
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Osteopetrosis	OMIM:617306
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio...	ORPHA:911
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Autoimmune Hypoparathyroidism	Increased bone mineral density, Chronic mucocutaneous candidiasis, Conjunctivitis	ORPHA:36913
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Osteopenia, Chronic otitis media, Increased circulating IgE level, Skin rash, Eczematoid dermatit...	ORPHA:2314
Inflammatory Skin And Bowel Disease, Neonatal, 1	Erythroderma, Blepharitis, Increased circulating IgE level, Pustule	OMIM:614328
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Crohn's disease, Optic neuritis, Decreased circulating antibody level, Thyroiditis, Atopic dermat...	ORPHA:436159
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Hepatosplenomegaly, Sp...	OMIM:618935
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ...	OMIM:619802
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Increased bone mineral density, Thin bony cortex, Osteopenia	ORPHA:85184
Nephroblastoma	Neoplasm of the liver, Lymphadenopathy	ORPHA:654
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen	ORPHA:89844
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Aggressive Systemic Mastocytosis	Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, Po...	ORPHA:98850
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Rhabdoid Tumor	Thrombocytopenia, Neoplasm of the liver, Anemia, Lymphadenopathy	ORPHA:69077
Immunodeficiency 10	Increased circulating IgG3 level, Recurrent otitis media, Increased circulating IgA level, Decrea...	OMIM:612783
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level, Atopic dermatitis, Allergic rhinitis	ORPHA:90368
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Leukopenia, Splenomegaly, T...	ORPHA:381
Iga Pemphigus	Increased circulating IgA level, Monoclonal elevation of circulating IgA, Pustule, Neutrophilic i...	ORPHA:555905
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Pancreatic calcification	ORPHA:677
Immunodeficiency 96	Defective T cell proliferation, Recurrent otitis media, Eczematoid dermatitis, Decreased circulat...	OMIM:619774
Ciliary Dyskinesia, Primary, 29	Bronchiectasis, Decreased circulating antibody level	OMIM:615872
Urban-Rogers-Meyer Syndrome	Flexion contracture of toe, Increased circulating IgE level, Osteoporosis, Camptodactyly of finge...	ORPHA:3409
Proteasome-Associated Autoinflammatory Syndrome 2	Increased circulating IgG level, Increased circulating IgA level, Skin rash, Abnormal circulating...	OMIM:618048
Autosomal Recessive Hypophosphatemic Rickets	Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de...	ORPHA:289176
Netherton Syndrome	Increased circulating IgE level, Chronic rhinitis, Eczematoid dermatitis, Decreased circulating I...	OMIM:256500
Camurati-Engelmann Disease	Diaphyseal sclerosis, Increased bone mineral density, Cortical thickening of long bone diaphyses,...	OMIM:131300
Tricho-Dento-Osseous Syndrome	Increased bone mineral density	ORPHA:3352
Igg4-Related Aortitis	Increased circulating antibody level, Increased circulating IgE level, Reduced circulating comple...	ORPHA:449400
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Osteoporosis, Ankylosis, Recurrent fractures	OMIM:239000
Sézary Syndrome	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:3162
Stormorken Syndrome	Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Prolonged neonatal...	OMIM:257200
Zika Virus Disease	Myelitis, Arthritis, Skin rash, Increased circulating IgM level, Infectious encephalitis, Conjunc...	ORPHA:448237
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Increased circulating IgA level, Abnormal circulating IgG level, Increased ...	OMIM:300291
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:169154
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Thrombocytopenia, Splenomegaly, Hepatospleno...	ORPHA:457077
Autoimmune Hepatitis	Increased circulating antibody level, Sclerosing cholangitis, Increased circulating IgG level, Ar...	ORPHA:2137
Osteopetrosis, Autosomal Recessive 8	Osteopetrosis	OMIM:615085
Osteopathia Striata-Cranial Sclerosis Syndrome	Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecularization, Facial hyper...	ORPHA:2780
Immunodeficiency 67	Septic arthritis, Increased circulating IgE level, Complete or near-complete absence of specific ...	OMIM:607676
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly...	OMIM:618986
Peeling Skin Syndrome 1	Erythroderma, Increased circulating IgE level	OMIM:270300
Boutonneuse Fever	Thrombocytopenia, Leukopenia, Lymphadenopathy, Cervical lymphadenopathy	ORPHA:83313
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl...	ORPHA:79456
Roifman Syndrome	Eosinophilia, Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:616651
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly...	ORPHA:39041
Gracile Bone Dysplasia	Hypoplastic spleen, Asplenia	OMIM:602361
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Cyclic Neutropenia	Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Thrombocytopenia, Peritonitis...	ORPHA:2686
Thrombocytopenia 1	Increased circulating IgE level, Joint hemorrhage, Increased circulating IgA level, Eczematoid de...	OMIM:313900
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Kaposi Sarcoma	Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen	ORPHA:33276
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Increased circulating IgE level, Atopic dermatitis	OMIM:620603
Immunodeficiency 43	Bronchiectasis, Decreased circulating IgG level, Abnormal circulating IgA level, Abnormal circula...	OMIM:241600
Sapho Syndrome	Acne, Hyperostosis, Arthritis, Skin rash, Synovitis, Palmoplantar pustulosis, Pustule, Inflammati...	ORPHA:793
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Neutrophilia, Hepatosplenomegaly, Thrombocytopen...	OMIM:619644
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell ...	OMIM:613179
Ciliary Dyskinesia, Primary, 53	Hypoplastic spleen, Polysplenia, Abdominal situs inversus	OMIM:620642
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy	OMIM:619750
Macrophage Activation Syndrome	Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Lymphadenopathy, Thro...	ORPHA:158061
Pyoderma Gangrenosum	Increased circulating antibody level, Myositis, Rheumatoid arthritis, Inflammation of the large i...	ORPHA:48104
Pycnodysostosis	Generalized osteosclerosis, Increased bone mineral density, Osteolytic defects of the distal phal...	ORPHA:763
Dysosteosclerosis	Osteopenia, Clavicular sclerosis, Sclerosis of hand bone, Sclerosis of skull base, Sclerotic scap...	OMIM:224300
Roifman Syndrome	Eosinophilia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:353298
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi...	OMIM:304790
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Trichothiodystrophy	Osteopenia, Panhypogammaglobulinemia, Increased bone mineral density, Eczematoid dermatitis, Conj...	ORPHA:33364
Autoinflammation With Arthritis And Dyskeratosis	Increased circulating IgG level, Thyroiditis, Increased circulating IgA level, Punctate keratitis...	OMIM:617388
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Sting-Associated Vasculopathy, Infantile-Onset	Increased circulating IgG level, Malar rash, Increased circulating IgA level, Skin rash, Myositis...	OMIM:615934
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Splenomegal...	ORPHA:1451
Pgm3-Cdg	Chronic otitis media, Increased circulating IgG level, Increased circulating IgE level, Increased...	ORPHA:443811
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy	ORPHA:1332
American Trypanosomiasis	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:3386
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Chronic oral candidiasis, Decreased specific anti-polysaccharide antibody level, Thyroiditis, Inc...	OMIM:606367
Poems Syndrome	Sclerosis of skull base, Sclerosis of foot bone, Increased circulating antibody level, Sclerosis ...	ORPHA:2905
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:169090
Aspergillosis	Increased circulating IgE level, Bronchiectasis, Sinusitis, Osteomyelitis, Keratitis, Pneumonia, ...	ORPHA:1163
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit...	ORPHA:47612
Immunodeficiency 23	Increased circulating IgG level, Increased circulating IgE level, Chronic mucocutaneous candidias...	OMIM:615816
Werner Syndrome	Increased bone mineral density, Joint stiffness, Osteoporosis	ORPHA:902
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Bronchiectasis, Sinusitis, Increased circulating IgM level, Pneumonia, Decreased circulating IgA ...	OMIM:242860
Agammaglobulinemia, X-Linked	Recurrent otitis media, Pyoderma, Decreased circulating IgE, Prostatitis, Enteroviral hepatitis, ...	OMIM:300755
Dysostosis, Stanescu Type	Increased bone mineral density, Massively thickened long bone cortices	ORPHA:1798
Castleman Disease	Jaundice, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Thrombocytopenia, Decreased mean ...	ORPHA:160
Scrub Typhus	Lymphadenopathy, Splenomegaly	ORPHA:83317
Hyperimmunoglobulinemia D With Periodic Fever	Recurrent aphthous stomatitis, Arthritis, Increased circulating IgA level, Limitation of joint mo...	ORPHA:343
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Cervical lymph...	ORPHA:514
Netherton Syndrome	Increased circulating IgE level, Decreased circulating antibody level, Skin rash, Eczematoid derm...	ORPHA:634
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Limited hip movement, Limited elbow flexion, Limitation of movem...	ORPHA:206594
Simple Cryoglobulinemia	Monoclonal elevation of IgG, Arthritis, Monoclonal elevation of circulating IgA, Reduced circulat...	ORPHA:91139
Immunodeficiency 58	Chronic otitis media, Recurrent aphthous stomatitis, Seborrheic dermatitis, Chronic mucocutaneous...	OMIM:618131
Gaucher Disease	Osteopenia, Increased circulating antibody level, Increased bone mineral density, Abnormal bone s...	ORPHA:355
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Increased circulating IgE level, Skin rash, Chronic mucocutaneous candidiasis, Sinusitis, Recurre...	OMIM:102700
Subcorneal Pustular Dermatosis	Rheumatoid arthritis, Pustule, Increased circulating antibody level	ORPHA:48377
Adult-Onset Still Disease	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Neutrophilia, S...	ORPHA:829
Gaucher Disease Type 3	Increased bone mineral density, Increased circulating antibody level, Osteolysis, Increased susce...	ORPHA:77261
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233710
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Craniofacial osteosclerosis, Osteopetrosis, Increased skull ossification, Diaphyseal sclerosis	OMIM:618476
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Cranial hyperostosis, Osteopetrosis, Decreased osteoclast count	OMIM:259720
Agammaglobulinemia 1, Autosomal Recessive	Recurrent otitis media, Panhypogammaglobulinemia, Decreased circulating antibody level, Recurrent...	OMIM:601495
Adult Idiopathic Neutropenia	Increased circulating IgM level, Recurrent aphthous stomatitis	ORPHA:2688
X-Linked Hypophosphatemia	Rickets, Reduced bone mineral density, Vertebral hyperostosis, Arthritis, Limitation of joint mob...	ORPHA:89936
Desmosterolosis	Increased bone mineral density, Osteopetrosis	ORPHA:35107
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233690
Erdheim-Chester Disease	Increased bone mineral density, Skin rash, Osteomyelitis, Osteolysis	ORPHA:35687
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Legionnaires Disease	Jaundice, Pancreatitis, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, ...	ORPHA:549
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Osteopetrosis	OMIM:618541
Osteopetrosis, Autosomal Recessive 3	Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis	OMIM:259730
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Thr...	ORPHA:540
Immunodeficiency 36 With Lymphoproliferation	Bronchiectasis, Decreased circulating IgG level, Increased circulating IgM level, Decreased circu...	OMIM:616005
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Portal hyperten...	ORPHA:79124
Hemophagocytic Lymphohistiocytosis, Familial, 2	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenopathy, Leukopenia, Sple...	OMIM:603553
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche...	OMIM:614700
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymphopenia	OMIM:617591
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Thro...	OMIM:267700
Familial Pancreatic Carcinoma	Jaundice, Lymphadenopathy, Peritoneal abscess, Hepatosplenomegaly, Exocrine pancreatic insufficie...	ORPHA:1333
Pycnodysostosis	Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand	OMIM:265800
Autoimmune Lymphoproliferative Syndrome	Increased circulating antibody level, Bone marrow hypocellularity, Recurrent aphthous stomatitis,...	ORPHA:3261
Thymic Neuroendocrine Tumor	Neoplasm of the thymus, Pancreatic islet cell adenoma, Mediastinal lymphadenopathy, Chronic nonin...	ORPHA:97289
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased circulating IgA level, Increased circulating IgM level, Panniculitis, Skin rash	OMIM:617099
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Leukocytosis	ORPHA:99812
Mirage Syndrome	Anemia, Hypoplastic spleen, Thrombocytopenia, Leukopenia, Lymphopenia	OMIM:617053
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Gastritis, Myositis, Thyroiditis, Increased circulating IgE level, Tubulointerstitial nephritis, ...	ORPHA:37042
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Impa...	OMIM:214500
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Lenz-Majewski Hyperostotic Dwarfism	Cranial hyperostosis, Osteopetrosis, Abnormal cortical bone morphology, Increased bone mineral de...	ORPHA:2658
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Cholestasis, Leukocytosis, Lymphadenitis, Splenomegaly, He...	OMIM:615895
Angiostrongyliasis	Stiff neck, Increased circulating IgG level, Increased circulating IgA level, Increased circulati...	ORPHA:74
Acute Promyelocytic Leukemia	Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia	ORPHA:520
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Lymphadenopathy, Leukocytosis, Normocytic hypoplastic anemia, H...	OMIM:610377
Otopalatodigital Syndrome Type 2	Tarsal synostosis, Increased bone mineral density, Synostosis of carpal bones, Camptodactyly of f...	ORPHA:90652
Hereditary Amyloidosis With Primary Renal Involvement	Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:85450
Hyper-Igd Syndrome	Chronic oral candidiasis, Arthritis, Increased circulating IgA level, Skin rash, Lymphadenitis, I...	OMIM:260920
Pseudohypoparathyroidism Type 1A	Reduced bone mineral density, Increased bone mineral density, Abnormal platelet function, Ectopic...	ORPHA:79443
12Q14 Microdeletion Syndrome	Osteopoikilosis	ORPHA:94063
Hypocomplementemic Urticarial Vasculitis	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:36412
Igg4-Related Kidney Disease	Sclerosing cholangitis, Pericarditis, Increased circulating IgG4 level, Cholecystitis, Urinary bl...	ORPHA:449395
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres...	OMIM:600802
Multiple Myeloma	Osteopenia, Increased circulating IgG level, Increased circulating IgA level, Decreased circulati...	ORPHA:29073
Schwartz-Jampel Syndrome	Flexion contracture of toe, Increased bone mineral density, Shoulder flexion contracture, Abnorma...	ORPHA:800
Mixed Connective Tissue Disease	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leukopenia, Splenomegaly, Hemolytic a...	ORPHA:809
Periodic Fever, Familial, Autosomal Dominant	Hepatic amyloidosis, Hepatomegaly, Cervical lymphadenopathy	OMIM:142680
Raine Syndrome	Increased bone mineral density, Subperiosteal bone formation, Arthrogryposis multiplex congenita	OMIM:259775
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy, Cholestasis, Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Increased circulating IgE level, Eosinophilic infiltration of the esophagus, Erythroderma, Recurr...	OMIM:615508
Kenny-Caffey Syndrome, Type 2	Increased bone mineral density, Thickened cortex of long bones	OMIM:127000
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi...	OMIM:619418
Carcinoid Syndrome	Hepatic necrosis, Chronic noninfectious lymphadenopathy	ORPHA:100093
Common Variable Immunodeficiency	Lymphadenopathy, Splenomegaly, Lymphopenia, Abnormality of the liver, Autoimmune thrombocytopenia...	ORPHA:1572
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Idiopathic Chronic Eosinophilic Pneumonia	Increased circulating IgE level, Atopic dermatitis	ORPHA:2902
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Defective T cell proliferation, Perianal abscess, Increased circulating IgG level, Pancolitis, In...	OMIM:618213
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Biliary ...	ORPHA:100086
Drug Reaction With Eosinophilia And Systemic Symptoms	Lymphocytosis, Eosinophilia, Hepatitis, Lymphadenopathy	ORPHA:139402
Pseudohypoparathyroidism Type 1C	Increased bone mineral density, Ectopic ossification, Conjunctivitis	ORPHA:79444
Coccidioidomycosis	Morbilliform rash, Pneumonia, Pancreatitis, Panniculitis, Increased circulating IgG level, Arthri...	ORPHA:228123
Lead Poisoning	Cranial hyperostosis, Increased circulating IgE level, Skin rash, Abnormality of humoral immunity...	ORPHA:330015
Postinfectious Vasculitis	Gastrointestinal inflammation, Increased circulating antibody level, Arthritis, Increased circula...	ORPHA:48435
Kikuchi-Fujimoto Disease	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Lymphocytosis, Leukopenia,...	ORPHA:50918
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:306400
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis	OMIM:241410
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Desmosterolosis	Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contracture of the hand	OMIM:602398
Graft Versus Host Disease	Jaundice, Lymphadenopathy, Hemophagocytosis, Acute hepatitis, Chronic hepatitis, Hepatosplenomegaly	ORPHA:39812
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Hyperoxaluria, Primary, Type I	Increased bone mineral density, Pathologic fracture	OMIM:259900
Igg4-Related Submandibular Gland Disease	Prostatitis, Increased circulating antibody level, Cholangitis, Increased circulating IgG level, ...	ORPHA:449432
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Cervical lympha...	OMIM:617718
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormality of neutrophils, Leukemia	ORPHA:33226
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Increased bone mineral density, Coarse metaphyseal trabecularization, Thickened cortex of long bones	OMIM:620558
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy, Lymphopenia, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia	ORPHA:93552
Wiskott-Aldrich Syndrome	Decreased specific anti-polysaccharide antibody level, Abnormal delayed hypersensitivity skin tes...	OMIM:301000
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Myositis, Increased circulating IgE level, Increased circulati...	OMIM:620565
Q Fever	Hepatomegaly, Anemia, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Abnorm...	ORPHA:781
Blomstrand Lethal Chondrodysplasia	Increased bone mineral density, Synostosis of joints	ORPHA:50945
Microphthalmia, Syndromic 9	Multilobulated spleen, Hypoplastic spleen	OMIM:601186
Carney Triad	Lymphadenopathy, Mediastinal lymphadenopathy, Anemia	ORPHA:139411
Brucellosis	Myocarditis, Pneumonia, Hip osteoarthritis, Arteritis, Increased circulating IgG level, Knee oste...	ORPHA:1304
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100080
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Sclerosing cholangitis, Increased circulating IgG level, Inflammation of the large intestine, Inc...	ORPHA:562639
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hypertension, Bone marr...	OMIM:615688
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Decreased proportion of naive T cells, T lymphocytopenia, Atypical or prolonged ...	ORPHA:83471
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Decreased circulating total IgM, Increased circulating IgE level, Elbow f...	ORPHA:508533
Pearson Syndrome	Hepatomegaly, Anemia, Pancytopenia, Reticulocytosis, Bone marrow hypocellularity, Macronodular ci...	ORPHA:699
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Chronic oral candidiasis, Increased circulating IgE level, Skin rash, Chronic mucocut...	OMIM:147060
Mucopolysaccharidosis-Plus Syndrome	Bone marrow hypocellularity, Increased circulating IgM level, Nephritis, Recurrent pneumonia, Fle...	OMIM:617303
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Lymphadenopathy, Pancreatic hypoplasia, Histiocytosis, Hepatosplenomegaly, Splenome...	OMIM:602782
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Leukocytosis	OMIM:620233
Farber Disease	Anemia, Lymphadenopathy, Intrahepatic cholestasis with episodic jaundice, Hepatosplenomegaly, Thr...	ORPHA:333
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Biliary tract obstruction, Intrahepatic cholestasis with episodic jaundice, Intermi...	ORPHA:100085
Lymphatic Filariasis	Lymphangiectasis, Lymphadenopathy, Abnormality of the lymphatic system, Lymphadenitis, Hypereosin...	ORPHA:2035
Sanjad-Sakati Syndrome	Patchy osteosclerosis	ORPHA:2323
Immunodeficiency 31C	Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut...	OMIM:614162
Cleidocranial Dysplasia 1	Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac...	OMIM:119600
Tempi Syndrome	Increased circulating IgG level	ORPHA:284227
Atypical Werner Syndrome	Reduced bone mineral density, Osteolytic defects of the phalanges of the hand, Increased bone min...	ORPHA:79474
Proteasome-Associated Autoinflammatory Syndrome 1	Recurrent otitis media, Flexion contracture of toe, Increased circulating antibody level, Increas...	OMIM:256040
Tangier Disease	Anemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Thrombocytopenia, Hepat...	ORPHA:31150
Lassa Fever	Increased circulating IgM level, Conjunctivitis	ORPHA:99824
Congenital Syphilis	Pancreatitis, Anemia, Lymphadenopathy, Prolonged neonatal jaundice, Hepatosplenomegaly, Thrombocy...	ORPHA:499009
Rift Valley Fever	Increased circulating IgG level, Skin rash, Increased circulating IgM level, Hepatitis, Infectiou...	ORPHA:319251
Primary Biliary Cholangitis	Gastrointestinal inflammation, Increased circulating IgA level, Osteoporosis, Increased circulati...	ORPHA:186
Chédiak-Higashi Syndrome	Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Abnor...	ORPHA:167
Autosomal Recessive Malignant Osteopetrosis	Osteopetrosis, Reduced bone mineral density, Chronic rhinitis, Otitis media, Craniosynostosis, Re...	ORPHA:667
Neuroblastoma	Thrombocytopenia, Anemia, Lymphadenopathy	ORPHA:635
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100082
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:97287
Trichothiodystrophy 3, Photosensitive	Increased circulating IgA level	OMIM:616395
H Syndrome	Microcytic anemia, Histiocytosis, Lymphadenopathy, Hepatosplenomegaly	ORPHA:168569
Cherubism	Submandibular lymph node enlargement	OMIM:118400
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Insulin-Resistance Syndrome Type B	Increased circulating IgG level, Increased circulating IgA level, Skin rash, Decreased circulatin...	ORPHA:2298
Selective Igm Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:331235
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy, T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia	OMIM:607944
Primary Sclerosing Cholangitis	Osteopenia, Pancreatitis, Thyroiditis, Osteoporosis, Ulcerative colitis, Polyclonal elevation of ...	ORPHA:171
Primary Hyperoxaluria	Generalized osteosclerosis, Recurrent fractures	ORPHA:416
Igg4-Related Pachymeningitis	Pancreatitis, Parotitis, Lymphadenitis, Reduced circulating complement concentration, Sinusitis, ...	ORPHA:449427
Sclerosteosis 1	Cortically dense long tubular bones, Sclerotic scapulae, Facial palsy secondary to cranial hypero...	OMIM:269500
Japanese Encephalitis	Stiff neck, Increased circulating antibody level, Elbow flexion contracture, Increased circulatin...	ORPHA:79139
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatosplenomegaly, Anemia	ORPHA:85408
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Anemia, Myeloproliferati...	ORPHA:3260
Williams Syndrome	Osteopenia, Chronic otitis media, Increased bone mineral density, Synostosis of joints, Osteoporo...	ORPHA:904
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Leukocytosis, Splenomegaly, Peritonitis	ORPHA:32960
Hennekam Syndrome	Lymphadenopathy, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia, Lymphopenia	ORPHA:2136
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Joint stiffness, Bone marrow hypocellularity, Increased circulating IgM level, Decreased circulat...	ORPHA:505248
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Thyroiditis, Increased circulating IgA level, Tubulointerstitial nephritis, Increased c...	ORPHA:79078
Igg4-Related Thyroid Disease	Thyroiditis, Increased circulating IgG4 level, Hashimoto thyroiditis, Sclerosing cholangitis	ORPHA:64744
Igg4-Related Ophthalmic Disease	Prostatitis, Pancreatitis, Cholangitis, Thyroiditis, Increased circulating IgE level, Sinusitis, ...	ORPHA:449563
Tick-Borne Encephalitis	Abnormal circulating cytokine concentration, Stiff neck, Myelitis, Increased circulating IgG leve...	ORPHA:297
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Leukocytosis, Splenomegaly, Peritonitis	ORPHA:342
Ileal Neuroendocrine Tumor	Lymphadenopathy, Iron deficiency anemia, Extrahepatic cholestasis	ORPHA:100078
Lymphangioleiomyomatosis	Abnormality of the lymphatic system, Pulmonary lymphangiomyomatosis, Lymphadenopathy	ORPHA:538
Trichinellosis	Conjunctivitis, Increased circulating IgE level, Skin rash	ORPHA:863
Immunodeficiency 82 With Systemic Inflammation	Anemia, Lymphadenopathy, B lymphocytopenia, Decreased proportion of naive T cells, T lymphocytope...	OMIM:619381
Crimean-Congo Hemorrhagic Fever	Morbilliform rash, Myocarditis, Stiff neck, Increased circulating IgG level, Parotitis, Acute pan...	ORPHA:99827
Osteopetrosis With Renal Tubular Acidosis	Bone marrow hypocellularity, Osteopetrosis, Recurrent fractures	ORPHA:2785
Tubulointerstitial Nephritis And Uveitis Syndrome	Increased circulating antibody level, Increased circulating IgG level, Skin rash, Posterior uveit...	ORPHA:91500
Malakoplakia	Follicular hyperplasia	ORPHA:556
Primary Sjögren Syndrome	Normocytic anemia, Lymphadenopathy, Normochromic anemia, Chronic active hepatitis, Biliary cirrho...	ORPHA:289390
Sarcoidosis	Abnormal liver parenchyma morphology, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node ...	ORPHA:797
Schinzel-Giedion Midface Retraction Syndrome	Sclerosis of skull base, Increased density of long bones, Thickened cortex of long bones	OMIM:269150
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Mediastinal lymphadenopathy, Pancytopenia, Splenomegaly, Generalized lymphadenopathy	OMIM:181000
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Systemic Lupus Erythematosus	Thrombocytopenia, Leukopenia, Lymphadenopathy, Hemolytic anemia	ORPHA:536
Marburg Hemorrhagic Fever	Jaundice, Pancreatitis, Lymphadenopathy, Neutrophilia in presence of infection, Abnormal lymphocy...	ORPHA:99826
Behçet Disease	Lymphadenopathy, Pancreatitis, Splenomegaly	ORPHA:117
Blau Syndrome	Abnormality of the liver, Lymphadenopathy, Anemia, Splenomegaly	ORPHA:90340
Leptospirosis	Jaundice, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Hepatitis	ORPHA:509
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Pancreatic adenocarcinoma, Decreased eosinophil count, Leukocytos...	ORPHA:99889
Simpson-Golabi-Behmel Syndrome	Camptodactyly of finger, Increased circulating IgE level, Vertebral fusion	ORPHA:373
Yellow Fever	Acute pancreatitis, Increased circulating IgM level, Increased circulating interleukin 6 concentr...	ORPHA:99829
Viss Syndrome	Increased circulating IgG level, Chronic gastritis, Contracture of the proximal interphalangeal j...	OMIM:619472
African Trypanosomiasis	Jaundice, Hepatomegaly, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly	ORPHA:3385

Histopathology

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

There is no histopathology data for Fkbp11

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Fkbp11.

No publications found that use IMPC mice or data for Fkbp11.

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MGI Allele	Allele Type	Produced
Fkbp11^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Fkbp11^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Fkbp11^{tm213554(L1L2_Bact_P)}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors
Fkbp11^{tm446430(L1L2_GT1_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Fkbp11 MGI:1913370

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Fkbp11 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data