Gene Summary

Name:
FK506 binding protein 11
Synonyms:
1110002O23Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal spleen morphology Fkbp11em1(IMPC)Mbp HOM Early adult 0.00
abnormal brain morphology Fkbp11em1(IMPC)Mbp HOM Early adult 0.00
small spleen Fkbp11em1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Fkbp11em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Fkbp11em1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Fkbp11em1(IMPC)Mbp HOM Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

60 Images

X-ray

XRay Images Whole Body Lateral Orientation

20 Images

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Buschke-Ollendorff Syndrome
Flexion contracture, Osteopoikilosis, Joint stiffness OMIM:166700
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver OMIM:235550
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Osteomalacia, sclerosing, with cerebral calcification
Generalized osteosclerosis, Increased bone mineral density, Osteomalacia OMIM:259660
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Immunodeficiency 11
Pneumonia, Decreased circulating antibody level OMIM:615206
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Isolated Osteopoikilosis
Joint stiffness, Abnormal pelvis bone ossification, Increased bone mineral density, Sclerotic foc... ORPHA:166119
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Hepatosplenomegaly... OMIM:619126
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Chondritis, Arthritis ORPHA:564003
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density, Rickets OMIM:241520
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Increased circulating IgM level, Decreased circulating IgA level... OMIM:608106
Kerion Celsi
Lymphadenopathy ORPHA:499
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Decr... OMIM:606843
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Decreased circulating IgG level, Recurre... OMIM:618944
Melorheostosis
Joint stiffness, Increased bone mineral density, Ectopic ossification in muscle tissue, Hyperosto... ORPHA:2485
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, C... ORPHA:566943
Ige Responsiveness, Atopic
Eczema, Allergic rhinitis, Increased circulating IgE level OMIM:147050
Immunodeficiency 104
Lymphadenopathy, T lymphocytopenia, Splenomegaly, Hepatomegaly OMIM:608971
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Osteopetrosis, Autosomal Dominant 2
Fractures of the long bones, Recurrent fractures, Hip osteoarthritis, Bone marrow hypocellularity... OMIM:166600
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Flynn-Aird Syndrome
Increased bone density with cystic changes, Osteoporosis, Increased bone mineral density, Joint s... OMIM:136300
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Immunodeficiency 7
Hypereosinophilia, Lymphadenopathy OMIM:615387
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... ORPHA:444463
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Recurrent ... OMIM:613494
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly OMIM:618495
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Hepatomegaly, Lymphadenopathy OMIM:618852
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteosclerosis OMIM:607634
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density OMIM:166740
Kimura Disease
Eosinophilia, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
Schnitzler Syndrome
Increased circulating IgM level, Skin rash, Increased bone mineral density, Arthritis ORPHA:37748
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Thickened cortex of long bones, ... OMIM:144750
Intermediate Osteopetrosis
Recurrent fractures, Increased susceptibility to fractures, Cortical sclerosis, Osteosclerosis of... ORPHA:210110
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent pneumonia, Craniosynostosis, Osteopenia, Recurrent fractures, Cutaneous abscess, Joint ... OMIM:147060
Gnathodiaphyseal Dysplasia
Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures, Osteopenia OMIM:166260
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Bone marrow hypocellularity, Hyperostosis craniali... OMIM:231095
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Immunodeficiency 76
T lymphocytopenia, Splenomegaly, B lymphocytopenia, Lymphadenopathy, Lymphopenia OMIM:619164
Immunodeficiency 48
Eczematoid dermatitis, Pneumonia, Panhypogammaglobulinemia OMIM:269840
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... OMIM:613502
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:86893
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy, Reduced natural killer cell count OMIM:618261
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis, Craniofacial osteosclerosis OMIM:122860
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormality of the peritoneum ORPHA:545
Cirrhosis, Familial
Increased circulating antibody level, Hepatitis, Chronic active hepatitis OMIM:118900
Immunodeficiency 25
Recurrent pneumonia, Increased circulating IgG level, Complete or near-complete absence of specif... OMIM:610163
Burkitt Lymphoma
Abnormality of the liver, Abnormality of the pancreas, Decreased proportion of CD4-positive helpe... ORPHA:543
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased circulating IgG level, Defective B cell differentiatio... OMIM:617765
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B... OMIM:615513
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Recurrent otitis media, Chronic decreased circulating total IgG,... OMIM:613493
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Inc... OMIM:617514
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, Decreased specific antibody response to protein-conjugated polysaccharide vaccine, Dec... ORPHA:70593
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Cervical lymphadenopathy, Abnormally low T cell receptor excision circle level OMIM:618987
Immunodeficiency 50
Eczema, Decreased circulating antibody level OMIM:300988
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Thr... OMIM:603552
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Immunodeficiency 72 With Autoinflammation
Recurrent otitis media, Increased circulating IgG level, Bronchiectasis, Herpes simplex encephali... OMIM:618982
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... OMIM:612692
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Pneumonia,... OMIM:300400
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, Agammaglobulinemia OMIM:616941
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Otitis media, Decreased circulating IgG level OMIM:312863
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenopathy, Hepatomegaly OMIM:615895
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Crohn's disease, Increased circulating IgE level, Inflammation o... OMIM:615767
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Recurrent otitis media, Craniosynostosis, Bronchiectasis, Eczema, Keratitis, Increased circulatin... OMIM:618523
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis OMIM:162700
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, Pn... OMIM:607271
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:98293
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Lymphadenopathy OMIM:212050
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Agammaglobulinemia,... OMIM:613500
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia, Decreased c... OMIM:619707
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Recurrent ... OMIM:619752
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Alpha-Heavy Chain Disease
Anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:100025
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia OMIM:613101
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Glomerulonephritis, Pneumonia OMIM:247800
Granulomatous Slack Skin
Abnormality of the lymph nodes ORPHA:33111
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Immunodeficiency 64
Hepatosplenomegaly, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic ane... OMIM:618534
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus OMIM:602450
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Abnormality of the lymph no... OMIM:612840
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Paget Disease Of Bone 3
Fractures of the long bones, Patchy osteosclerosis, Osteolysis OMIM:167250
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper... OMIM:300853
Fish-Eye Disease
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:79292
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Generalized osteosclerosis, Advanced tarsal ossification OMIM:215045
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, Recurrent otitis media, Recurrent pneumonia, Lack of T cell function, Inflammatory abn... ORPHA:277
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy ORPHA:97290
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia OMIM:608184
Caffey Disease
Cortical irregularity, Increased circulating antibody level, Periosteal thickening of long tubula... ORPHA:1310
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Myositis, Arthritis, Increased inflammatory response, Acne, Increased circulatin... ORPHA:69126
Buschke-Ollendorff Syndrome
Craniosynostosis, Joint stiffness, Flexion contracture, Recurrent fractures, Abnormal bone struct... ORPHA:1306
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Glomerulonephritis OMIM:314000
Pfapa Syndrome
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:42642
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy ORPHA:319487
Immunodeficiency 55
Neutropenia, Lymphadenopathy OMIM:617827
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Majeed Syndrome
Flexion contracture, Increased bone mineral density, Increased susceptibility to fractures, Acne,... ORPHA:77297
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Purulent rhinitis, Pneumonia, Conjunctivitis, Panhypogammaglobulinemia, Otitis media, Arthritis OMIM:601457
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Enlarged mesenteri... OMIM:209950
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Increased bone mineral density, Joint hypermobility OMIM:614856
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of memory B cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmu... OMIM:615559
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Decrea... OMIM:619375
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Mastocytosis, Splenomegaly, Hepatomegaly, Increased proportion of ... ORPHA:98848
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Increased circulating IgM level, Eczema, Reduced d... OMIM:617241
Immunodeficiency 70
Decreased circulating total IgM, Colitis, Decreased circulating total IgG, Decreased circulating ... OMIM:618969
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Lymphadenopathy OMIM:618048
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Follicular hyperplasia, Splenomegaly, Hepatomegaly OMIM:240500
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, Lymphadenopathy... OMIM:150550
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Diaphyseal sclerosis, Recurrent fractures, Osteomyelitis, Mandibular osteom... OMIM:259710
Cold Agglutinin Disease
Lymphadenopathy, Splenomegaly, Hepatomegaly, Hemolytic anemia ORPHA:56425
Immunodeficiency, Common Variable, 1
Splenomegaly, Hepatomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy... OMIM:607594
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level, Inflammatory abnormality of the skin ORPHA:90159
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Increased circulati... OMIM:243700
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Abnormal vertebral segmentation and fusion, Limitation of joint mobil... ORPHA:90650
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the pancreas, Neutrophilia, Anemia, Liver abscess, Abnormality of the lymph nodes,... ORPHA:54251
Albers-Schönberg Osteopetrosis
Recurrent fractures, Osteoarthritis, Generalized osteosclerosis, Osteomyelitis, Mandibular osteom... ORPHA:53
Immunodeficiency 37
Colitis, Decreased circulating antibody level, Infectious encephalitis OMIM:616098
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:2584
Immunodeficiency With Hyper-Igm, Type 1
Decreased T cell activation, Decreased circulating IgG level, Sclerosing cholangitis, Decreased c... OMIM:308230
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Splenomegaly OMIM:611762
Osteopetrosis, Autosomal Recessive 1
Craniosynostosis, Increased bone mineral density, Osteomyelitis, Osteopetrosis, Pathologic fractu... OMIM:259700
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Eczema, Thyroiditis, Increased circulating IgE level OMIM:618985
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Pseudomyxoma Peritonei
Lymphadenopathy, Abnormality of the peritoneum ORPHA:26790
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Recurrent sinusitis, Atopic dermatitis, Chronic otitis media, Recurrent bacterial skin... ORPHA:217390
Klatskin Tumor
Cholangiocarcinoma, Hepatomegaly, Extrahepatic cholestasis, Jaundice, Lymphadenopathy ORPHA:99978
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:601859
Omenn Syndrome
Eosinophilia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, Lymphadenopathy, B ly... OMIM:603554
Spondyloepiphyseal Dysplasia Tarda
Premature osteoarthritis, Hip osteoarthritis, Increased bone mineral density, Limited wrist movem... ORPHA:93284
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent skin infections, Erythema nodosum, Colitis, Acne, Decreased circulating antibody level,... OMIM:300635
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Lymphadenopathy, Aplasti... OMIM:308240
Griscelli Syndrome Type 2
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Lymphadenopathy ORPHA:79477
Lymphoproliferative Syndrome 2
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, ... OMIM:615122
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Crohn's disease, Decreased circulating total IgM, Arthritis, Dec... OMIM:616100
Heme Oxygenase 1 Deficiency
Thrombocytosis, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Hepatomegaly, Hemolyt... OMIM:614034
Dysosteosclerosis
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Increased bone mineral density, ... ORPHA:1782
Immunodeficiency 54
Lymphadenopathy, Splenomegaly, Hepatomegaly, Reduced natural killer cell count OMIM:609981
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Increased circulating IgG level, Increased circulating IgA level, Bronchiectasis... OMIM:619632
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Osteoarthritis, Increased circulating antibody level,... ORPHA:77259
Immunodeficiency 57 With Autoinflammation
Decreased circulating antibody level, Bronchiectasis, Inflammation of the large intestine, Perian... OMIM:618108
Pleural Mesothelioma
Lymphadenopathy, Hepatomegaly ORPHA:50251
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating antibody ... ORPHA:859
Congenital Toxoplasmosis
Hepatomegaly, Jaundice, Anemia, Lymphadenopathy, Thrombocytopenia ORPHA:858
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Anemia, Lym... ORPHA:507
Diastrophic Dysplasia
Camptodactyly of finger, Joint hyperflexibility, Joint stiffness, Increased bone mineral density ORPHA:628
Classic Hodgkin Lymphoma
Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly ORPHA:391
Metaphyseal Dysplasia, Braun-Tinschert Type
Sclerosis of middle finger phalanx, Osteopenia, Increased bone mineral density, Thin bony cortex,... ORPHA:85188
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Recurrent pneumonia, Pneumonia, Decreased lymphocyte proliferati... ORPHA:169160
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:603909
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fractures of the long bones, Osteopenia, Patchy osteosclerosis, Diaphyseal cortical sclerosis, Pa... OMIM:112250
Primary Myelofibrosis
Pancytopenia, Portal hypertension, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Splenomegaly... ORPHA:824
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, Myeloproliferative disorder... ORPHA:3226
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:85414
Pseudohypoparathyroidism Type 1B
Diaphyseal sclerosis, Increased bone density with cystic changes, Increased bone mineral density,... ORPHA:94089
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Cinca Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:607115
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent pneumonia, Recurrent skin infections, Decreased circulating antibody level, Bronchiecta... OMIM:616576
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal bone ossification, Delayed patellar ossification, Increased bone mineral density ORPHA:163649
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Lymphocytosis, Thrombocytopenia, Lymphadenopathy OMIM:617718
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:619313
Erythema Elevatum Diutinum
Increased circulating antibody level, Skin rash ORPHA:90000
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Sclerotic scapulae, Absent ossification of calv... OMIM:601376
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Hepatosplenomegaly, Lymphadenitis, Autoimmune thrombocytopenia, Autoimmune hemolyti... ORPHA:911
Lymphoproliferative Syndrome 1
Pancytopenia, Leukopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Decreased pro... OMIM:613011
Tularemia
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy, Anemia, Lymph... ORPHA:3392
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr... ORPHA:276
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Thin bony cortex, Osteopenia, Increased bone mineral density ORPHA:85184
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly OMIM:619183
Autosomal Dominant Hyper-Ige Syndrome
Craniosynostosis, Osteopenia, Recurrent fractures, Eczema, Osteomyelitis, Chronic otitis media, J... ORPHA:2314
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Abnormal t... OMIM:612301
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Anemia, Abnormality of the peritoneum, Lymphadenopathy, Mediastinal lymphadenopathy... ORPHA:83469
Autoimmune Hypoparathyroidism
Increased bone mineral density, Conjunctivitis, Chronic mucocutaneous candidiasis ORPHA:36913
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenom... ORPHA:100026
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Rheumatoid arthritis, Increased circulating antibody level OMIM:178610
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Inflammatory Skin And Bowel Disease, Neonatal, 1
Erythroderma, Blepharitis, Increased circulating IgE level, Pustule OMIM:614328
Rhabdoid Tumor
Anemia, Thrombocytopenia, Neoplasm of the liver, Lymphadenopathy ORPHA:69077
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Hepatosplenomegaly, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Hemol... OMIM:618935
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Nephroblastoma
Lymphadenopathy, Neoplasm of the liver ORPHA:654
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Griscelli Syndrome
Leukopenia, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Jaundice, Abnormality of neu... ORPHA:381
Urban-Rogers-Meyer Syndrome
Recurrent fractures, Osteoporosis, Flexion contracture of toe, Camptodactyly of finger, Increased... ORPHA:3409
Hypotrichosis Simplex Of The Scalp
Allergic rhinitis, Atopic dermatitis, Increased circulating IgE level ORPHA:90368
Ectodermal Dysplasia And Immunodeficiency 1
Reduced natural killer cell activity, Increased circulating IgM level, Dysgammaglobulinemia, Incr... OMIM:300291
Camurati-Engelmann Disease
Diaphyseal sclerosis, Increased bone mineral density, Bone marrow hypocellularity, Sclerosis of s... OMIM:131300
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Portal hypertension, Hepatosplenomegaly, Leukemia, L... ORPHA:98850
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Recurrent fractures, Increased bone mineral density, Osteoporosis, Ankylosis OMIM:239000
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Iga Pemphigus
Neutrophilic infiltration of the skin, Cutaneous abscess, Increased circulating IgA level, Monocl... ORPHA:555905
Sézary Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:3162
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy, Neoplasm of the liver ORPHA:424019
Igg4-Related Aortitis
Increased circulating IgG4 level, Increased inflammatory response, Increased circulating antibody... ORPHA:449400
Osteopathia Striata-Cranial Sclerosis Syndrome
Osteopetrosis, Coarse metaphyseal trabecularization, Increased bone mineral density, Facial hyper... ORPHA:2780
Purine Nucleoside Phosphorylase Deficiency
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence o... OMIM:613179
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Increased circulating IgG level, Glomerulonephritis, Inf... ORPHA:2137
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Roifman Syndrome
Eosinophilia, Splenomegaly, Hepatomegaly, Lymphadenopathy OMIM:616651
Sapho Syndrome
Recurrent skin infections, Recurrent fractures, Craniofacial osteosclerosis, Acne, Inflammation o... ORPHA:793
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Hepatomegaly, Abnormal natural killer cell count, Neutropenia, An... ORPHA:158061
Thrombocytopenia 1
Eczema, Increased circulating IgA level, Joint hemorrhage, Increased circulating IgE level OMIM:313900
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Craniosynostosis, Increased bone mineral density, Abnormal trabecular bone morp... ORPHA:289176
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Recurrent fractures OMIM:611490
Kaposi Sarcoma
Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen ORPHA:33276
Cyclic Neutropenia
Decreased eosinophil count, Peritonitis, Cervical lymphadenopathy, Recurrent tonsillitis, Thrombo... ORPHA:2686
Diffuse Cutaneous Mastocytosis
Abnormality of the liver, Myeloproliferative disorder, Hepatomegaly, Abnormality of the spleen, L... ORPHA:79456
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Lymphadenitis, Impaired neutroph... OMIM:618986
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, L... ORPHA:39041
Pyoderma Gangrenosum
Myositis, Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibo... ORPHA:48104
Pancreatoblastoma
Abnormality of the lymph nodes, Pancreatic calcification, Jaundice ORPHA:677
Dysosteosclerosis
Clavicular sclerosis, Osteopenia, Sclerosis of hand bone, Increased susceptibility to fractures, ... OMIM:224300
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia OMIM:602361
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Immunodeficiency 91 And Hyperinflammation
Monocytosis, Hepatosplenomegaly, Hemophagocytosis, Neutrophilia, Hepatomegaly, Lymphadenopathy, T... OMIM:619644
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Boutonneuse Fever
Lymphadenopathy, Leukopenia, Thrombocytopenia, Cervical lymphadenopathy ORPHA:83313
Roifman Syndrome
Eosinophilia, Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Aregenerative Anemia
Pancytopenia, Bone marrow hypocellularity, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Autoinflammation With Arthritis And Dyskeratosis
Punctate keratitis, Uveitis, Increased circulating IgG level, Increased circulating IgA level, Th... OMIM:617388
Poems Syndrome
Increased circulating antibody level, Sclerosis of hand bone, Sclerosis of foot bone, Sclerosis o... ORPHA:2905
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Thrombocytopenia ORPHA:169090
Sting-Associated Vasculopathy, Infantile-Onset
Myositis, Joint stiffness, Increased circulating IgG level, Increased circulating IgA level, Pust... OMIM:615934
Pycnodysostosis
Increased bone mineral density, Coronal craniosynostosis, Joint laxity, Osteolytic defects of the... ORPHA:763
Medullary Thyroid Carcinoma
Lymphadenopathy, Abnormal liver parenchyma morphology ORPHA:1332
Trichothiodystrophy
Craniosynostosis, Osteopenia, Multiple joint contractures, Increased bone mineral density, Congen... ORPHA:33364
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Cinca Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Anemia, Lymphadenopathy, Ab... ORPHA:1451
Felty Syndrome
Abnormal lymphocyte morphology, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Neutrope... ORPHA:47612
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased circulating IgA level, Eczema, Thyroiditis, Erythroderma, Decreased lymphocyte prolifer... OMIM:606367
Niemann-Pick Disease, Type A
Microcytic anemia, Splenomegaly, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundic... OMIM:257200
Simple Cryoglobulinemia
Monoclonal elevation of IgG, Viral hepatitis, Monoclonal immunoglobulin M proteinemia, Paraprotei... ORPHA:91139
Subacute Inflammatory Demyelinating Polyneuropathy
Limitation of movement at ankles, Increased circulating IgG level, Limited hip movement, Limited ... ORPHA:206594
Pgm3-Cdg
Reduced antigen-specific T cell proliferation, Recurrent pneumonia, Recurrent skin infections, In... ORPHA:443811
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... OMIM:300755
American Trypanosomiasis
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:3386
Netherton Syndrome
Erythroderma, Allergic rhinitis, Increased circulating IgE level, Decreased circulating IgG level OMIM:256500
Adult-Onset Still Disease
Leukocytosis, Bone marrow hypocellularity, Neutrophilia, Generalized lymphadenopathy, Hepatomegal... ORPHA:829
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Decreased circulating total IgM, Pneumonia, Increased circulating IgA level, Inflammat... OMIM:600903
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Osteopetrosis, Increased bone mineral density, Decreased osteoclast count OMIM:259720
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Anemia,... OMIM:304790
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Increased circulating IgM level, Decreased circulating IgA level, Bronchiec... OMIM:242860
Gaucher Disease
Osteopenia, Increased bone mineral density, Joint stiffness, Recurrent fractures, Abnormal bone s... ORPHA:355
Hyperimmunoglobulinemia D With Periodic Fever
Arthritis, Peritonitis, Increased circulating IgA level, Recurrent aphthous stomatitis, Limitatio... ORPHA:343
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Seborrheic dermatitis, Agammaglobulinemia OMIM:619693
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Increased circulating antibody level, Pustule ORPHA:48377
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Leukocytosis, Cervical lymphadenopathy, Anemia, Acute monocytic leukemia, Lym... ORPHA:514
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Gaucher Disease Type 3
Increased circulating antibody level, Osteolysis, Increased susceptibility to fractures, Increase... ORPHA:77261
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Splenomegaly, Hepatomegaly, Granulomatosis, Lymphadenopathy, Liver abscess, Impair... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Splenomegaly, Hepatomegaly, Granulomatosis, Lymphadenopathy, Liver abscess, Impair... OMIM:233710
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating antibody l... OMIM:601495
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Immunodeficiency 58
Decreased T cell activation, Recurrent pneumonia, Cutaneous abscess, Colitis, Decreased circulati... OMIM:618131
Scrub Typhus
Splenomegaly, Lymphadenopathy ORPHA:83317
Immunodeficiency 23
Increased circulating IgG level, Increased circulating IgM level, Bronchiectasis, Eczema, Joint h... OMIM:615816
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Dysostosis, Stanescu Type
Increased bone mineral density, Massively thickened long bone cortices ORPHA:1798
Aspergillosis
Sinusitis, Pneumonia, Infectious encephalitis, Bronchiectasis, Osteomyelitis, Hepatitis, Keratiti... ORPHA:1163
Netherton Syndrome
Decreased circulating antibody level, Eczema, Erythroderma, Increased circulating IgE level, Skin... ORPHA:634
Castleman Disease
Generalized lymphadenopathy, Jaundice, Anemia, Follicular hyperplasia, Lymphadenopathy, Decreased... ORPHA:160
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Familial Pancreatic Carcinoma
Exocrine pancreatic insufficiency, Hepatosplenomegaly, Neoplasm of the liver, Jaundice, Extrahepa... ORPHA:1333
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Diaphyseal sclerosis, Osteopetrosis OMIM:259730
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Splenomegaly, Hepatomegaly, Granulomatosis, Lymphadenopathy, Liver abscess, Impair... OMIM:233690
X-Linked Hypophosphatemia
Craniosynostosis, Arthritis, Limitation of joint mobility, Vertebral hyperostosis, Enthesitis, Ge... ORPHA:89936
Desmosterolosis
Osteopetrosis, Increased bone mineral density ORPHA:35107
Adult Idiopathic Neutropenia
Increased circulating IgM level, Recurrent aphthous stomatitis ORPHA:2688
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy, Lymphoid leukemia ORPHA:79140
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Legionnaires Disease
Bone marrow hypocellularity, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Pancreatitis, Ly... ORPHA:549
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, T lymphocytopenia, Decreased proportion of memory B cells, Portal hypertension, Hep... ORPHA:79124
Chediak-Higashi Syndrome
Leukopenia, Giant neutrophil granules, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Ne... OMIM:214500
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Cho... ORPHA:540
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Lymphadenopathy, Lymphopenia OMIM:617591
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Recurrent pneumonia, Decreased circulating total IgM, Pneumonia, Decreased circulating... OMIM:102700
Lig4 Syndrome
Pancytopenia, Leukocytosis, Hepatomegaly, Lymphadenopathy, Acute leukemia ORPHA:99812
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Increased circulating IgM level, Panniculitis, Skin rash OMIM:617099
Zika Virus Disease
Increased circulating IgM level, Infectious encephalitis, Maculopapular exanthema, Conjunctivitis... ORPHA:448237
Erdheim-Chester Disease
Osteomyelitis, Osteolysis, Increased bone mineral density, Skin rash ORPHA:35687
Thymic Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, Mediastinal lymphadenopathy... ORPHA:97289
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Recurrent skin infections, Pneumonia, Colitis, Interstitial pneumonitis, Tubulointersti... ORPHA:37042
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Leukopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaund... OMIM:603553
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Chronic neutropenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Hemophagocytic Lymphohistiocytosis, Familial, 1
Leukopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Lymphadenopathy, Thro... OMIM:267700
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Absent natural killer cells, Impaired lymphocyte transformation with phytohema... OMIM:600802
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Carpal synostosis, Increased bone mineral density, Tarsal synostosis,... ORPHA:90652
Igg4-Related Kidney Disease
Decreased serum complement C4, Prostatitis, Arteritis, Membranous nephropathy, Inflammatory abnor... ORPHA:449395
Lenz-Majewski Hyperostotic Dwarfism
Cranial hyperostosis, Increased bone mineral density, Facial hyperostosis, Osteopetrosis, Elbow a... ORPHA:2658
Mirage Syndrome
Hypoplastic spleen, Leukopenia, Anemia, Lymphopenia, Thrombocytopenia OMIM:617053
Angiostrongyliasis
Increased circulating IgG level, Increased circulating IgM level, Increased circulating IgA level... ORPHA:74
Hyper-Igd Syndrome
Increased circulating IgD level, Lymphadenitis, Increased circulating IgA level, Chronic oral can... OMIM:260920
Autoimmune Lymphoproliferative Syndrome
Decreased circulating IgG level, Decreased circulating total IgM, Abnormal circulating interleuki... ORPHA:3261
Pseudohypoparathyroidism Type 1A
Abnormal platelet function, Increased bone mineral density, Ectopic ossification, Hyperostosis fr... ORPHA:79443
Hereditary Amyloidosis With Primary Renal Involvement
Hepatosplenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Abnormality of the lymph nodes ORPHA:85450
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis OMIM:618476
Mixed Connective Tissue Disease
Leukopenia, Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Mediastinal lymphadeno... ORPHA:809
Mevalonic Aciduria
Normocytic hypoplastic anemia, Hepatosplenomegaly, Leukocytosis, Fluctuating splenomegaly, Anemia... OMIM:610377
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Neutropenia, Anemia, Lymphadenopathy, Thrombocytopenia ORPHA:520
Multiple Myeloma
Increased circulating IgG level, Osteopenia, Increased circulating IgA level, Decreased circulati... ORPHA:29073
Hypocomplementemic Urticarial Vasculitis
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:36412
Gallbladder Neuroendocrine Tumor
Biliary tract obstruction, Cholecystitis, Biliary tract neoplasm, Extrahepatic cholestasis, Chron... ORPHA:100086
Schwartz-Jampel Syndrome
Joint stiffness, Increased bone mineral density, Osteoporosis, Shoulder flexion contracture, Flex... ORPHA:800
Periodic Fever, Familial, Autosomal Dominant
Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis OMIM:142680
Raine Syndrome
Increased bone mineral density, Arthrogryposis multiplex congenita OMIM:259775
Primary Biliary Cholangitis
Gastrointestinal inflammation, Increased circulating IgM level, Increased circulating IgA level, ... ORPHA:186
12Q14 Microdeletion Syndrome
Osteopoikilosis ORPHA:94063
X-Linked Lymphoproliferative Disease
Pancytopenia, Histiocytosis, Absent natural killer cells, Increased T cell count, Hepatic necrosi... ORPHA:2442
Common Variable Immunodeficiency
Abnormality of the liver, Autoimmune thrombocytopenia, Splenomegaly, Hemolytic anemia, Lymphadeno... ORPHA:1572
Werner Syndrome
Osteoporosis, Increased bone mineral density, Joint stiffness ORPHA:902
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Microvesicular hepatic steatosis, Hepatic steatosis, Accessory... OMIM:619418
Malt Lymphoma
Anemia, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
Postinfectious Vasculitis
Viral hepatitis, Pneumonia, Gastrointestinal inflammation, Orchitis, Increased circulating IgA le... ORPHA:48435
Pseudohypoparathyroidism Type 1C
Ectopic ossification, Increased bone mineral density, Conjunctivitis ORPHA:79444
Kenny-Caffey Syndrome, Type 2
Thickened cortex of long bones, Increased bone mineral density OMIM:127000
Hyperoxaluria, Primary, Type I
Increased bone mineral density, Pathologic fracture OMIM:259900
Coccidioidomycosis
Pericarditis, Pneumonia, Erythema nodosum, Increased circulating IgG level, Increased circulating... ORPHA:228123
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Increased circulating IgE level ORPHA:2902
Carcinoid Syndrome
Chronic noninfectious lymphadenopathy, Hepatic necrosis ORPHA:100093
Kikuchi-Fujimoto Disease
Leukopenia, Splenomegaly, Cervical lymphadenopathy, Hepatomegaly, Generalized lymphadenopathy, Ne... ORPHA:50918
Desmosterolosis
Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contracture of the hand OMIM:602398
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Splenomegaly, Hepatomegaly, Granulomatosis, Lymphadenopathy, Liver abscess, Impair... OMIM:306400
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis, Hepatitis, Lymphadenopathy ORPHA:139402
Microphthalmia, Syndromic 9
Hypoplastic spleen, Multilobulated spleen OMIM:601186
Acute Interstitial Pneumonia
Reduced hematocrit, Lymphadenopathy ORPHA:79126
Igg4-Related Submandibular Gland Disease
Increased circulating IgG level, Cholangitis, Increased circulating IgG4 level, Prostatitis, Incr... ORPHA:449432
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Brucellosis
Pneumonia, Hip osteoarthritis, Increased circulating IgG level, Orchitis, Knee osteoarthritis, In... ORPHA:1304
Waldenström Macroglobulinemia
Leukemia, Normocytic anemia, Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Lymphadenopathy ORPHA:33226
Pediatric Systemic Lupus Erythematosus
Leukopenia, Lymphopenia, Lymphadenopathy, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:93552
Q Fever
Abnormality of the liver, Hepatosplenomegaly, Cholecystitis, Splenomegaly, Hepatomegaly, Anemia, ... ORPHA:781
Graft Versus Host Disease
Hepatosplenomegaly, Hemophagocytosis, Chronic hepatitis, Jaundice, Lymphadenopathy, Acute hepatitis ORPHA:39812
Carney Triad
Anemia, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:139411
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Sclerosing cholangitis, Increased circulating IgG level, Increased circulating IgM level, Interfa... ORPHA:562639
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Leukopenia, Portal hypertension, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, ... OMIM:615688
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Flexion contracture, Bone marrow hypocellularity, Increased circulating IgM ... OMIM:617303
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Increased bone mineral density ORPHA:50945
Pearson Syndrome
Exocrine pancreatic insufficiency, Pancytopenia, Hypoplastic spleen, Abnormality of the liver, He... ORPHA:699
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Recurrent pneumonia, Craniosynostosis, Decreased circulating tot... ORPHA:508533
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Decreased T cell activation, Increased circulating IgG level, Pancolitis, Eosinophilic infiltrati... OMIM:618213
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Histiocytosis, Pancreatic hypoplasia, Splenomegaly, Hepatomegaly, Cervical ly... OMIM:602782
Primary Hepatic Neuroendocrine Carcinoma
Biliary tract obstruction, Intrahepatic cholestasis with episodic jaundice, Neoplasm of the liver... ORPHA:100085
Thymic Aplasia
T lymphocytopenia, Coombs-positive hemolytic anemia, Decreased proportion of naive T cells, Atypi... ORPHA:83471
Sanjad-Sakati Syndrome
Patchy osteosclerosis ORPHA:2323
Wiskott-Aldrich Syndrome
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Increased circulati... OMIM:301000
Neuroendocrine Tumor Of The Colon
Chronic noninfectious lymphadenopathy, Hepatomegaly ORPHA:100080
Autosomal Recessive Malignant Osteopetrosis
Craniosynostosis, Recurrent fractures, Chronic rhinitis, Osteopetrosis, Otitis media, Reduced bon... ORPHA:667
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Farber Disease
Hepatosplenomegaly, Intrahepatic cholestasis with episodic jaundice, Anemia, Lymphadenopathy, Hep... ORPHA:333
Cleidocranial Dysplasia
Delayed pubic bone ossification, Increased susceptibility to fractures, Increased bone mineral de... OMIM:119600
Chédiak-Higashi Syndrome
Pancytopenia, Hepatosplenomegaly, Vacuolated lymphocytes, Hemophagocytosis, Splenomegaly, Jaundic... ORPHA:167
Tangier Disease
Hepatosplenomegaly, Orange discolored tonsils, Anemia, Chronic noninfectious lymphadenopathy, Thr... ORPHA:31150
Sclerosteosis 1
Sclerotic scapulae, Cortically dense long tubular bones, Facial palsy secondary to cranial hypero... OMIM:269500
Proteasome-Associated Autoinflammatory Syndrome 1
Recurrent otitis media, Flexion contracture, Elbow flexion contracture, Erythema nodosum, Parotit... OMIM:256040
Atypical Werner Syndrome
Increased bone mineral density, Sclerosis of hand bone, Osteoporosis, Osteolytic defects of the p... ORPHA:79474
Lymphatic Filariasis
Hypereosinophilia, Lymphadenitis, Lymphangiectasis, Lymphadenopathy, Abnormality of the lymphatic... ORPHA:2035
Lead Poisoning
Cranial hyperostosis, Tubulointerstitial nephritis, Abnormality of humoral immunity, Increased ci... ORPHA:330015
Rift Valley Fever
Increased circulating IgG level, Uveitis, Increased circulating IgM level, Infectious encephaliti... ORPHA:319251
Adenocarcinoma Of The Anal Canal
Lymphadenopathy, Neoplasm of the liver ORPHA:424016
Insulin-Resistance Syndrome Type B
Pneumonia, Increased circulating IgG level, Increased circulating IgA level, Osteoarthritis, Neph... ORPHA:2298
H Syndrome
Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Histiocytosis ORPHA:168569
Selective Igm Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenitis, Decreased proportion of CD3-positive... ORPHA:331235
Igg4-Related Pachymeningitis
Sinusitis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Nephritis, Pancreatitis, C... ORPHA:449427
Neuroendocrine Tumor Of The Rectum
Chronic noninfectious lymphadenopathy, Hepatomegaly ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Chronic noninfectious lymphadenopathy, Hepatomegaly ORPHA:100082
Cherubism
Submandibular lymph node enlargement OMIM:118400
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Autoimmune thrombocytopenia, Neutropenia, Lymphadenopathy, Lymphopenia OMIM:607944
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level OMIM:616395
Lassa Fever
Conjunctivitis, Increased circulating IgM level ORPHA:99824
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Anemia, Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
Primary Sclerosing Cholangitis
Osteopenia, Uveitis, Osteoporosis, Thyroiditis, Hepatitis, Polyclonal elevation of IgM, Pancreati... ORPHA:171
Primary Hyperoxaluria
Generalized osteosclerosis, Recurrent fractures ORPHA:416
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Peritonitis, Splenomegaly, Leukocytosis, Lymphadenopathy ORPHA:32960
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Orchitis, Increased circulating IgG4 level, Prostatitis, Thyroiditis, Pan... ORPHA:449563
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Decreased circulating IgG level, Flexion contracture, Bone marrow hypocellularity, Joint stiffnes... ORPHA:505248
Japanese Encephalitis
Elbow flexion contracture, Increased circulating IgM level, Infectious encephalitis, Increased ci... ORPHA:79139
Idiopathic Hypereosinophilic Syndrome
Eosinophilia, Hepatosplenomegaly, Leukocytosis, Cholangitis, Thrombocytosis, Chronic hepatitis, M... ORPHA:3260
Familial Mediterranean Fever
Peritonitis, Splenomegaly, Lymphadenopathy, Pancreatitis ORPHA:342
Igg4-Related Thyroid Disease
Hashimoto thyroiditis, Thyroiditis, Sclerosing cholangitis, Increased circulating IgG4 level ORPHA:64744
Tick-Borne Encephalitis
Abnormality of serum cytokine level, Increased circulating IgG level, Increased circulating IgM l... ORPHA:297
Williams Syndrome
Osteopenia, Increased bone mineral density, Joint stiffness, Joint laxity, Osteoporosis, Radiouln... ORPHA:904
Duodenal Neuroendocrine Tumor
Increased hematocrit, Intrahepatic cholestasis with episodic jaundice, Extrahepatic cholestasis, ... ORPHA:100076
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Increased circulating IgM level, Increased circulating IgA level, Increased circulating... ORPHA:79078
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Lymphadenopathy, Extrahepatic cholestasis ORPHA:100078
Jejunal Neuroendocrine Tumor
Iron deficiency anemia, Lymphadenopathy, Extrahepatic cholestasis ORPHA:100077
Hennekam Syndrome
Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Lymphopenia ORPHA:2136
Lymphangioleiomyomatosis
Abnormality of the lymphatic system, Lymphadenopathy, Pulmonary lymphangiomyomatosis ORPHA:538
Osteopetrosis With Renal Tubular Acidosis
Osteopetrosis, Bone marrow hypocellularity, Recurrent fractures ORPHA:2785
Crimean-Congo Hemorrhagic Fever
Acute pancreatitis, Increased circulating IgG level, Erythema nodosum, Parotitis, Orchitis, Chole... ORPHA:99827
Trichinellosis
Increased circulating IgE level, Conjunctivitis, Skin rash ORPHA:863
Schinzel-Giedion Midface Retraction Syndrome
Thickened cortex of long bones, Increased density of long bones, Sclerosis of skull base OMIM:269150
Primary Sjögren Syndrome
Biliary cirrhosis, Leukopenia, Normocytic anemia, Chronic hepatitis, Decreased proportion of CD4-... ORPHA:289390
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating IgG level, Posterior uveitis, Scleritis, Tubulointerstitial nephritis, Inte... ORPHA:91500
Sarcoidosis
Eosinophilia, Leukopenia, Portal hypertension, Increased T cell count, Hepatomegaly, Anemia, Hemo... ORPHA:797
Chikungunya
Lymphadenopathy, Cervical lymphadenopathy ORPHA:324625
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Splenomegaly, Hepatomegaly, Generalized lymphadenopathy, Mediastinal lymphadenopathy OMIM:181000
Immunodeficiency 82 With Systemic Inflammation
T lymphocytopenia, Decreased proportion of naive T cells, Splenomegaly, Anemia, Follicular hyperp... OMIM:619381
Behçet Disease
Splenomegaly, Lymphadenopathy, Pancreatitis ORPHA:117
Marburg Hemorrhagic Fever
Abnormal lymphocyte morphology, Leukopenia, Jaundice, Lymphopenia, Neutrophilia in presence of in... ORPHA:99826
Kawasaki Disease
Leukocytosis, Cholecystitis, Cervical lymphadenopathy, Jaundice, Hepatitis ORPHA:2331
Blau Syndrome
Anemia, Abnormality of the liver, Splenomegaly, Lymphadenopathy ORPHA:90340
Leptospirosis
Hepatomegaly, Jaundice, Hepatitis, Lymphadenopathy, Thrombocytopenia ORPHA:509
Simpson-Golabi-Behmel Syndrome
Camptodactyly of finger, Vertebral fusion, Increased circulating IgE level ORPHA:373
Cushing Syndrome Due To Ectopic Acth Secretion
Leukocytosis, Decreased eosinophil count, Neoplasm of the thymus, Pancreatic adenocarcinoma, Abno... ORPHA:99889
African Trypanosomiasis
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Jaundice, Lymphadenopathy ORPHA:3385
Yellow Fever
Increased circulating interleukin 6 concentration, Acute pancreatitis, Increased circulating IgM ... ORPHA:99829
Viss Syndrome
Contracture of the proximal interphalangeal joint of the 2nd toe, Increased circulating IgG level... OMIM:619472

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

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
Fkbp11tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Fkbp11em1(IMPC)Mbp Exon Deletion Mice, Tissue
Fkbp11tm213554(L1L2_Bact_P) Reporter-tagged deletion allele (with selection cassette) Targeting vectors
Fkbp11tm446430(L1L2_GT1_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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