Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
zeta-chain (TCR) associated protein kinase
Synonyms:
TZK,  ZAP-70,  Srk

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Zap70 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Zap70 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Zap70 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Reticular Dysgenesis
Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu... OMIM:267500
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Osteoarthritis Susceptibility 2
Heberden's node, Osteoarthritis OMIM:140600
Chondrocalcinosis 2
Polyarticular chondrocalcinosis, Arthropathy, Osteoarthritis OMIM:118600
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Glycoprotein Storage Disease
Gout OMIM:232900
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Immunodeficiency 24
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Osteoarthritis Susceptibility 3
Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis, Osteoarthriti... OMIM:607850
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ... OMIM:616452
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Antinuclear antibody pos... OMIM:615559
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... OMIM:614493
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism OMIM:183350
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count OMIM:613495
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Crohn's disease, Recurrent vulvovaginal candidiasis... ORPHA:331235
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Recurrent aphthous stomatitis, Decreased proportion of CD3-positive T c... ORPHA:275
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgG level, Increased circulating IgE level, Increased B cell count, Hepatos... OMIM:618982
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Increased circul... OMIM:212050
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Abnormality of the tonsils, Decreased circulating I... OMIM:611926
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemi... OMIM:269840
Macrophage Activation Syndrome
Hepatomegaly, Increased circulating interleukin 6 concentration, Hemophagocytosis, Abnormal natur... ORPHA:158061
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Decreased proportion of class-switched memory ... OMIM:618944
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Increased circulating IgE level, Abnormal T cell count, Decrease... OMIM:615767
Immunodeficiency 25
Autoimmune hemolytic anemia, Increased circulating IgG level, Complete or near-complete absence o... OMIM:610163
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Reduced bone mineral density, Polyarticular arthritis, Arthr... ORPHA:85435
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Immunodeficiency 18
Defective T cell proliferation, Decreased circulating total IgM, Decreased proportion of CD3-posi... OMIM:615615
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Recurrent respiratory infecti... ORPHA:100026
Talo-Patello-Scaphoid Osteolysis
Synovitis, Enlarged joints, Osteolysis of patellae, Osteolysis of talus, Osteolysis of scaphoids ORPHA:50809
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Increased T cell count, Recurrent sinusitis, Increased circulating IgG level, Decreased circulati... ORPHA:98813
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... OMIM:617241
Immunodeficiency 116
Absence of CD8-positive T cells OMIM:608957
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Immunodeficiency 95
Increased circulating IgG3 level, Decreased circulating IgG3 level, Lymphopenia OMIM:619773
Immunodeficiency 64 With Lymphoproliferation
Splenomegaly, Decreased lymphocyte proliferation in response to mitogen, Defective T cell prolife... OMIM:618534
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocyte transfo... OMIM:153600
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Farber Lipogranulomatosis
Lipogranulomatosis, Hepatomegaly, Osteolytic defects of the phalanges of the hand, Limitation of ... OMIM:228000
Developmental Dysplasia Of The Hip 2
Arthritis, Hip osteoarthritis OMIM:615612
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Arthritis, Skin rash, Pleural effusion, Pericarditis, Splenomegaly... ORPHA:85414
Autoimmune Lymphoproliferative Syndrome, Type Iia
Decreased lymphocyte apoptosis, Splenomegaly, Anti-smooth muscle antibody positivity, Increased c... OMIM:603909
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level, Lymphopenia OMIM:247800
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent otitis media, B lymphocytopenia, Increased circulating IgE level, Lack of T cell functi... ORPHA:277
Activated Pi3K-Delta Syndrome
Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Arthritis, B lympho... ORPHA:397596
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:613494
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent otitis media, Lymphadenopathy, Juvenile rheumatoid arthritis, Recurrent respiratory inf... OMIM:607944
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgE, Hypoplasia... OMIM:300400
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Immunodeficiency 11A
Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr... OMIM:615206
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Biliary cirrhosis, Leukopenia, Aplasia/Hypoplasia of the spleen, Non-caseating... ORPHA:227990
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopathy, Osteoporosis, Spleno... ORPHA:100024
Thymoma
Aplastic anemia, Myositis, Abnormal lymphocyte physiology, Abnormal lymphocyte proliferation, Dec... ORPHA:99867
Angel-Shaped Phalangoepiphyseal Dysplasia
Hyperextensibility of the finger joints, Delayed ossification of carpal bones, Hip osteoarthritis... OMIM:105835
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology OMIM:616911
Immunodeficiency 52
Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Decreased ci... OMIM:617514
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Increased circulating antibody level, Lymphadenopat... ORPHA:169154
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Bronchitis, Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Re... ORPHA:183675
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Chronic decreased circulating total IgG, A... OMIM:613493
Kienbock Disease
Osteochondritis dissecans, Abnormality of the wrist, Limitation of joint mobility, Osteoarthritis ORPHA:97332
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Panniculitis, Lymphadenopathy, Increased proportion of CD4-positive T cells, Skin rash, Increased... OMIM:617099
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Biliary cirrhosis, Leukopenia, Aplasia/Hypoplasia of the spleen, Non-caseating... ORPHA:227982
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Decreased circulating ant... OMIM:619846
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Recurrent bronchitis, Chronic mucocutaneous can... OMIM:613953
Immunodeficiency 97 With Autoinflammation
Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Decreased... OMIM:619802
Pyoderma Gangrenosum
Increased circulating antibody level, Myositis, Rheumatoid arthritis, Inflammation of the large i... ORPHA:48104
Majeed Syndrome
Bone pain, Skin rash, Anemia of inadequate production, Delayed skeletal maturation, Inflammatory ... OMIM:609628
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Mediastinal lympha... OMIM:300853
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Decreased CD4:CD8 ratio, Lymphadenopathy, Complete or ... OMIM:607271
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch... OMIM:619126
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched mem... OMIM:607594
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... OMIM:607676
Felty Syndrome
Rheumatoid arthritis, Splenomegaly, Neutropenia OMIM:134750
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating to... OMIM:618987
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Panhypogammaglobulinemia, Arthritis, B lymphocytopenia, T lymphocytopenia, Purulent rhinitis, Oti... OMIM:601457
Kimura Disease
Eosinophilia, Increased circulating IgE level ORPHA:482
Mixed Connective Tissue Disease
Skin rash, Joint stiffness, Pericarditis, Leukopenia, Splenomegaly, Osteolysis, Myocarditis, Pulm... ORPHA:809
Oligoarticular Juvenile Idiopathic Arthritis
Increased circulating interferon-gamma concentration, Knee osteoarthritis, Arthritis, Uveitis, Ab... ORPHA:85410
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Autoimmune Lymphoproliferative Syndrome
Decreased lymphocyte apoptosis, Splenomegaly, Anti-smooth muscle antibody positivity, Increased c... OMIM:601859
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Pleuritis, Arthritis, Skin rash, Leukocytosis... ORPHA:829
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec... OMIM:619824
Overlap Myositis
Limb pain, Subluxation of the small joints of the hand, Abnormal pulmonary interstitial morpholog... ORPHA:206572
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Ankle swelling, Abnormality of the wrist, Anemia, Hip osteoarthritis, Lymphadenopathy, Synovial l... ORPHA:85408
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Decreased circulating total IgM, Hepatomegaly, Lymphadenopathy, Partial a... OMIM:240500
Lymphoproliferative Syndrome 3
Lymphadenopathy, Decreased circulating antibody level, Partial absence of specific antibody respo... OMIM:618261
Osteochondrosis Of The Tarsal Bone
Osteochondritis dissecans, Tarsal sclerosis, Arthritis, Chondritis, Abnormal tarsal ossification,... ORPHA:563991
Complement Component C1R/C1S Deficiency
Arthritis, Discoid lupus rash, Nephritis OMIM:216950
Immunodeficiency 104
Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Chronic mucocutaneous candidiasis, Eczemat... OMIM:608971
Immunodeficiency 62
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:618459
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy OMIM:616126
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,... OMIM:616636
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Recurrent otitis media, Fluctuating splenomegaly, Lymphadenopathy, R... OMIM:619220
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Rheumatoid arthritis, Hypothyroidism, Pustule, Hyperthyroid... ORPHA:48377
Secondary Non-Traumatic Avascular Necrosis
Avascular necrosis, Bone pain, Limitation of joint mobility, Rheumatoid arthritis, Systemic lupus... ORPHA:399180
Immunodeficiency 82 With Systemic Inflammation
Crohn's disease, Skin rash, Bronchitis, T lymphocytopenia, Splenomegaly, Decreased circulating to... OMIM:619381
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope... ORPHA:169079
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Transient neutropenia, Decreased circulating total IgM, Agammagl... OMIM:619707
Myasthenia Gravis
Myositis, Anti-muscle-specific tyrosine kinase antibody, Rheumatoid arthritis, Hashimoto thyroidi... ORPHA:589
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to tetanus vaccine, Complete or n... OMIM:615401
Transcobalamin Deficiency
Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... ORPHA:859
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Increased cir... OMIM:618495
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Immunodeficiency 102
Recurrent sinusitis, Leukopenia, Increased proportion of CD8-positive, alpha-beta TEMRA T cells, ... OMIM:301082
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Increased bone mineral density, Arthritis, Skin rash, Bone... ORPHA:37748
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased proportion of CD8-positive T cel... ORPHA:911
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Periostitis, Hepatomegaly, Fused cervical vertebrae, Stomatitis, Skin rash, Pustule, ... OMIM:612852
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Agammaglobulinemia, Decreased circul... OMIM:613500
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Increased circulating IgE level, Decreased circulating total IgM OMIM:617638
Immunodeficiency 27A
Anemia, Lymphadenopathy, Increased circulating IgG level, Salmonella osteomyelitis, Leukocytosis,... OMIM:209950
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Synovial lining hyperplasia, Arthritis, Arthropathy, Wrist flexion contracture, Generalized morni... OMIM:208250
Osteochondritis Dissecans
Limited elbow extension, Limitation of joint mobility, Decreased hip abduction, Joint stiffness, ... ORPHA:2764
Panner Disease
Limited elbow extension, Limited elbow movement, Osteochondrosis, Stiff elbow, Elbow pain, Irregu... ORPHA:97336
Immunodeficiency 109 With Lymphoproliferation
Recurrent lower respiratory tract infections, Pancytopenia, Complete or near-complete absence of ... OMIM:620282
Wilson Disease
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Acute hepatitis, Arthritis, Bone pain, Joint swelling,... ORPHA:905
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent lower respiratory tract inf... OMIM:616100
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgE, T lymphocytopenia, Decreased circulat... OMIM:619510
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Recurrent otitis media, Lymphadenopathy, Lymphopenia, Respiratory tr... ORPHA:444463
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating IgG level, Decreased circulating total IgM, Aga... OMIM:613502
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, Increased circulating IgE level, T lymphocytopenia ORPHA:217390
Pachydermoperiostosis
Acne, Anemia, Hepatomegaly, Avascular necrosis, Abnormal cortical bone morphology, Bone pain, Seb... ORPHA:2796
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Increased circulating IgG level, B lymphocytopenia, Skin rash, Increased circula... OMIM:618048
Congenital Atransferrinemia
Arthritis ORPHA:1195
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Osteoarthritis of the elbow, Abnormality of the wrist, Hip osteoarthritis, Joint subl... ORPHA:2619
Immunodeficiency 36 With Lymphoproliferation
Recurrent lower respiratory tract infections, Chronic lymphatic leukemia, B lymphocytopenia, Incr... OMIM:616005
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Increased circulating antibody level, Pancytopenia, Lymphocytosis, Autoimmunity, Sp... OMIM:614470
Rheumatoid Arthritis
Anti-citrullinated protein antibody positivity, Polyarticular arthritis, Rheumatoid factor positi... OMIM:180300
Spondyloenchondrodysplasia
Autoimmune hemolytic anemia, Decreased response to growth hormone stimulation test, Juvenile rheu... ORPHA:1855
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Panhypogammaglobulinemia, Agammaglobulinemia, Reduced natural killer ... OMIM:615214
Isolated Agammaglobulinemia
Pneumonia, Anemia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Abnormal lymphocyte... ORPHA:229717
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m... OMIM:202700
Tenosynovial Giant Cell Tumor
Localized osteoporosis, Abnormality of the wrist, Synovial lining hyperplasia, Polyarticular arth... ORPHA:66627
Familial Calcium Pyrophosphate Deposition
Joint dislocation, Arthritis, Limitation of joint mobility, Osteoarthritis, Joint swelling, Chond... ORPHA:1416
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Cutaneous abscess, Decreased circulating IgG level, Lymphopenia,... OMIM:619752
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Reduced bone mineral density, Decreased circulating total IgM, Hepatomegaly, Joint dislocation, J... OMIM:620210
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re... OMIM:605258
Felty Syndrome
Chronic otitis media, Sinusitis, Pericarditis, Bone marrow hypocellularity, Splenomegaly, Osteoly... ORPHA:47612
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Recurrent sinusitis, Leukopenia, Lymphopenia, Abnormally low T cell receptor e... OMIM:618986
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Cranio-Osteoarthropathy
Abnormal cortical bone morphology, Arthritis, Eczematoid dermatitis, Joint stiffness, Osteoarthri... ORPHA:1525
Lymphoid Interstitial Pneumonia
Hepatomegaly, Mediastinal lymphadenopathy, Subpleural interstitial thickening, Skin rash, Multipl... ORPHA:79128
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytope... OMIM:308240
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Limitation of joint mobility, Abnormal pleura morphology, Lymphopenia, Eosinophilia ORPHA:2582
Farber Disease
Abnormality of the wrist, Hydrops fetalis, Anemia, Lymphadenopathy, Atelectasis, Arthritis, Intra... ORPHA:333
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Pleural thickening, Reduced circulating interle... OMIM:619632
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp... OMIM:614700
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Lymph node hypoplasia, Splenomegaly, Lymp... OMIM:602450
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Osteoarthritis ORPHA:435804
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Recurrent otitis media, Increased circulating interleukin 6 concentr... OMIM:620430
Immunodeficiency 114, Folate-Responsive
Megaloblastic anemia, Increased circulating IgE level, Decreased circulating IgG level, Thrombocy... OMIM:620603
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Immunodeficiency 76
B lymphocytopenia, Lymphopenia, Splenomegaly, T lymphocytopenia OMIM:619164
Immunodeficiency 12
Cheilitis, Absent isohemagglutinin level, Recurrent aphthous stomatitis, Recurrent lower respirat... OMIM:615468
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Osteoporosis, Atopic dermatitis, Eosinophilic infiltration of th... OMIM:620532
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Increased circulating IgM level, Decreased circulating IgA level... OMIM:608106
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Arthropathy, Increased circulating IgE level, Eczematoid dermatitis, Eosi... OMIM:618523
Immunodeficiency 17
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Abnormal B cell mo... OMIM:615607
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Anemia, Increased circulating antibody level, Thrombocytopenia, Splenomegaly, Leukopenia, Extrame... OMIM:615285
Immunodeficiency 70
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Decreas... OMIM:618969
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Progressive Pseudorheumatoid Dysplasia
Arthropathy, Osteoporosis, Joint stiffness, Camptodactyly of finger, Joint swelling, Osteoarthrit... OMIM:208230
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, B lymphocytopenia, Decreased circulating IgG level, Decreased circula... OMIM:612692
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Arthritis, Arthropathy, Hepatocellular carcinoma, Testicular atrophy, Os... ORPHA:465508
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Severe Hemophilia A
Anemia, Limitation of joint mobility, Synovitis, Joint hemorrhage, Limb joint contracture, Joint ... ORPHA:169802
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia, Monoclonal i... ORPHA:318
Immunodeficiency 13
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... OMIM:615518
Immunodeficiency 57 With Autoinflammation
Perianal abscess, B lymphocytopenia, Decreased circulating antibody level, Partial absence of spe... OMIM:618108
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, De... OMIM:617780
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Osteoarthritis, Hip osteoarthritis OMIM:271600
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Skin rash, Recurrent bacterial skin infections, Lym... ORPHA:276
C1Q Deficiency 2
Recurrent otitis media, Anemia, Atelectasis, Recurrent lower respiratory tract infections, Malar ... OMIM:620321
Intermittent Hydrarthrosis
Joint swelling, Chondrocalcinosis, Abnormality of the knee, Knee joint hypermobility ORPHA:329967
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... OMIM:619313
Mueller-Weiss Syndrome
Joint subluxation, Knee osteoarthritis, Arthritis, Chondritis, Joint stiffness, Limitation of mov... ORPHA:566943
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Sinding-Larsen-Johansson Disease
Osteochondrosis, Limitation of knee mobility, Knee pain, Painless fractures due to injury, Joint ... ORPHA:97337
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Increased circulating antibody level, Decreased proportion of CD3-posit... ORPHA:169160
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomerulonephritis, De... OMIM:617006
Hemophilia A
Abnormality of the elbow, Splenic rupture, Joint hemorrhage, Joint swelling ORPHA:98878
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Recurrent respiratory infections, Anti-U1 ribonucleoprotein antibo... OMIM:619375
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Skin rash, Osteoporosis,... ORPHA:98848
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Monocytosis, Polyarticular arthritis, B lymphocytopenia, Leukocytosis, Inflammati... OMIM:619281
Autoinflammatory Disease, Systemic, With Vasculitis
Cholestasis, Increased T cell count, Anti-Sm antibody positivity, Splenomegaly, Hydrops fetalis, ... OMIM:620376
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Reduced natural killer cel... OMIM:615592
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Absent isohemagglutinin level, Neutropenia, R... OMIM:613501
Interstitial Granulomatous Dermatitis With Arthritis
Rheumatoid arthritis, Inflammatory abnormality of the skin, Rheumatoid factor positive ORPHA:79099
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific antibody response to polysaccharide vaccine, Decreased specific anti-polysacch... ORPHA:70593
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, Partial absence of specific antibody response to Haemophilus... OMIM:620632
Gaucher Disease Type 1
Increased circulating antibody level, Ascites, Delayed skeletal maturation, Leukopenia, Splenomeg... ORPHA:77259
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased circulating total IgM, Hepatomegaly, Abnormal natural kill... ORPHA:331206
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Recurrent upper respiratory ... OMIM:608184
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Tularemia
Pneumonia, Cervical lymphadenopathy, Anemia, Increased circulating antibody level, Mediastinal ly... ORPHA:3392
Immunodeficiency, Common Variable, 7
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific... OMIM:614699
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Anemia, Lymphadenopathy, Arthritis, Increased circulating IgE level, Decreased FOXP3... OMIM:304790
Immunodeficiency 92
Hepatomegaly, Abnormal B cell proliferation, Cholangitis, Sclerosing cholangitis, Thrombocytosis,... OMIM:619652
Forsythe-Wakeling Syndrome
Delayed skeletal maturation, Thrombocytopenia, Osteoporosis OMIM:613606
Immunodeficiency, Common Variable, 6
Hepatomegaly, Recurrent respiratory infections, Complete or near-complete absence of specific ant... OMIM:613496
Osteochondrosis Of The Metatarsal Bone
Osteochondrosis, Arthritis, Chondritis, Joint stiffness, Sclerosis of foot bone, Progressive join... ORPHA:564003
Fibrodysplasia Ossificans Progressiva
Anemia, Limitation of joint mobility, Synostosis of joints, Ectopic ossification in ligament tiss... ORPHA:337
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Absent periph... OMIM:600802
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni... OMIM:618394
Eng-Strom Syndrome
Camptodactyly of finger, Arthritis ORPHA:1937
Peeling Skin Syndrome 1
Eosinophilia, Increased circulating IgE level OMIM:270300
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Lymphadenopathy, Arthritis, Skin rash, Leukocytosis, Lower limb pa... OMIM:611762
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Igg4-Related Retroperitoneal Fibrosis
Deep dermal perivascular inflammatory infiltrate, Anti-smooth muscle antibody positivity, Normocy... ORPHA:49041
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Progressive Pseudorheumatoid Arthropathy Of Childhood
Wrist swelling, Genu valgum, Abnormality of the elbow, Polyarticular arthropathy, Limitation of j... ORPHA:1159
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Recurre... OMIM:614069
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Erythroderma, Angioedema, Splenomegaly, Cholangitis, Myelofibrosis, Neutrophilia... ORPHA:3260
Psoriasis 1, Susceptibility To
Arthritis, Psoriasiform dermatitis OMIM:177900
Aggressive Systemic Mastocytosis
Anemia, Increased proportion of CD25+ mast cells, Maculopapular exanthema, Pancytopenia, Bone pai... ORPHA:98850
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Recurrent respiratory infections, Antiphospholipid antibody positivity, Malar rash, Myosi... OMIM:615934
Sjogren Syndrome
Keratoconjunctivitis sicca, Xerostomia, Rheumatoid arthritis, Autoimmunity, Tubulointerstitial ne... OMIM:270150
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, B lymphocytop... OMIM:606367
Spondyloepiphyseal Dysplasia Tarda
Limb pain, Limited elbow movement, Localized osteoporosis, Stiff knee, Hip osteoarthritis, Increa... ORPHA:93284
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus OMIM:616622
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Crohn's disease, Optic neuritis, Splenomegaly, Psoriasiform dermatitis, Thyroiditis, Decreased ci... ORPHA:436159
Immunodeficiency 37
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
Osteoarthritis With Mild Chondrodysplasia
Joint stiffness, Knee osteoarthritis, Heberden's node, Hip osteoarthritis OMIM:604864
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Decreased pro... OMIM:619374
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Sclerosing cholangitis, Recurrent sinusitis, Reduced natural killer cell count, Allergic rhinitis... OMIM:243700
Immunodeficiency 32A
Granuloma, Lymphadenitis, Lymphadenopathy OMIM:614893
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Abnormal pulmonary interstitial morphology, Anemia, Hemophagocytosis, Lymphadenopathy, Decreased ... OMIM:613101
Immunodeficiency 32B
Hepatomegaly, Anemia, Abnormal circulating IgG level, Bronchiectasis, Sinusitis, Eosinophilia, Ne... OMIM:226990
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Polyarticular arthriti... OMIM:615952
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis OMIM:617772
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch... OMIM:308230
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Panhypogammaglobulinemia, Decreased res... OMIM:307200
Agammaglobulinemia, X-Linked
Decreased circulating IgE, T lymphocytopenia, Recurrent sinusitis, Lymph node hypoplasia, Neutrop... OMIM:300755
Immunodeficiency 68
Abnormal natural killer cell count, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Septic a... OMIM:612260
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Pyoderma, Emphysema, Abnormally low T cell receptor excision ci... OMIM:242700
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sclerosing cholangitis, Panhypogammaglobulinemia, Skin rash, T lymphocytopenia, Sinusitis, Decrea... ORPHA:572
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Systemic Lupus Erythematosus
Antiphospholipid antibody positivity, Malar rash, Arthritis, Pleuritis, Pericarditis, Nephritis, ... OMIM:152700
Immunodeficiency 61
Decreased circulating IgG4 level, Decreased circulating total IgM, Decreased circulating IgG2 level OMIM:300310
Bullous Impetigo
Septic arthritis, Pustule, Recurrent bacterial skin infections ORPHA:36237
Immunodeficiency 10
Autoimmune hemolytic anemia, Increased circulating IgG3 level, Recurrent otitis media, Hepatomega... OMIM:612783
X-Linked Agammaglobulinemia
Chronic otitis media, Anemia, Arthritis, Skin rash, Abnormality of the tonsils, Abnormality of th... ORPHA:47
Pgm3-Cdg
Chronic otitis media, Decreased proportion of CD3-positive T cells, Reduced antigen-specific T ce... ORPHA:443811
Multicentric Reticulohistiocytosis
Arthritis, Histiocytosis ORPHA:139436
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Panniculitis, Increased circulating antibody level, Anemia, Lymphadenopathy, Myosit... OMIM:617591
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hepatomegaly, Recu... OMIM:301078
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis ORPHA:2206
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Pancytopenia, Sterile abscess, Arthritis, Sterile arthritis, Elbow flexion contracture, Cys... OMIM:604416
Igg4-Related Aortitis
Increased circulating antibody level, Increased circulating IgE level, Reduced circulating comple... ORPHA:449400
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent sinusitis, Lymphopenia, Inf... OMIM:301000
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Cinca Syndrome
Anemia, Lymphadenopathy, Arthritis, Skin rash, Lymphedema, Leukocytosis, Patellar overgrowth, Hep... OMIM:607115
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Chronic oral candidiasis, Recurrent otitis media, Sterile abscess, Chronic mucocutaneous candidia... OMIM:618282
Dracunculiasis
Arthritis, Skin rash, Limitation of joint mobility, Flexion contracture, Recurrent cutaneous absc... ORPHA:231
Myeloma, Multiple
Paraproteinemia OMIM:254500
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia OMIM:152800
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Immunodeficiency 96
Defective T cell proliferation, Decreased circulating total IgM, Increased mean corpuscular volum... OMIM:619774
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly ORPHA:100025
Reticular Dysgenesis
Chronic otitis media, Anemia, Skin rash, Decreased circulating antibody level, Dehydration, Leuko... ORPHA:33355
Achalasia, Familial Esophageal
Rheumatoid arthritis, Xerostomia, Keratoconjunctivitis sicca OMIM:200400
Autosomal Agammaglobulinemia
Chronic otitis media, Recurrent respiratory infections, Arthritis, Skin rash, Dehydration, Sinusi... ORPHA:33110
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Decreased circulating to... OMIM:102700
Erdheim-Chester Disease
Abnormal pulmonary interstitial morphology, Anemia, Avascular necrosis, Increased bone mineral de... ORPHA:35687
Immunodeficiency 22
Anemia, Decreased circulating IgE, Decreased circulating IgG level, Decreased proportion of CD4-p... OMIM:615758
Winchester Syndrome
Generalized osteoporosis, Osteolysis involving tarsal bones, Arthropathy, Carpal osteolysis OMIM:277950
Sialidosis Type 2
Hydrops fetalis, Hepatomegaly, Ascites, Osteoporosis, Flexion contracture, Splenomegaly, Pedal edema ORPHA:87876
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the ovary, Decreased proportion of CD4-positive he... ORPHA:543
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Recurrent aphthous stomatitis, Lymphadenopathy, B lymphocytopenia, Recu... OMIM:150550
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia OMIM:193670
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Decreased ... OMIM:619705
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Decreased circulating antibody lev... OMIM:300635
Lyme Disease
Joint swelling, Arthritis, Infectious encephalitis, Uveitis ORPHA:91546
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia, Antiphospholipid antibody ... ORPHA:90280
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Panhypogammaglobulinemia, Ascites, T lymphocytopenia, Recurrent aspiration pneumonia, Jaundice, P... ORPHA:79124
Multiple Epiphyseal Dysplasia Type 1
Genu valgum, Delayed epiphyseal ossification, Limitation of joint mobility, Joint stiffness, Oste... ORPHA:93308
Autoimmune Hepatitis
Increased circulating antibody level, Sclerosing cholangitis, Ascites, Splenomegaly, Diffuse hepa... ORPHA:2137
Familial Avascular Necrosis Of Femoral Head
Limited hip movement, Hip osteoarthritis ORPHA:86820
Mucopolysaccharidosis, Type Ix
Recurrent otitis media, Acetabular erosions, Hyperextensibility at elbow, Periarticular soft-tiss... OMIM:601492
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Extensor Tendons Of Finger Anomalies
Camptodactyly of finger, Limitation of joint mobility, Osteoporosis ORPHA:3294
Congenital Disorder Of Glycosylation, Type Iik
Joint hypermobility, Hepatomegaly, Thrombocytopenia, Osteoporosis OMIM:614727
Immunodeficiency 9
Abnormal natural killer cell count, Hypoplasia of the thymus, Decreased circulating IgG level, Ly... OMIM:612782
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Osteoporo... OMIM:257200
Hereditary Xanthinuria
Rheumatoid arthritis, Arthropathy, Gout ORPHA:3467
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Gout OMIM:610947
Lymphoproliferative Syndrome 2
Aplastic anemia, EBV encephalitis, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia,... OMIM:615122
Immunodeficiency, Common Variable, 13
B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level, Pancytopenia OMIM:616873
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Hepatomegaly, Osteoporosis, Biliary tract abnormality, Splenomegaly, Neonata... ORPHA:79301
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Abnormal lymphocyte morphology, Erythroderma,... ORPHA:39041
Chikungunya
Periostitis, Cervical lymphadenopathy, Lymphadenopathy, Maculopapular exanthema, Pedal edema, Art... ORPHA:324625
Vertical Talus, Congenital
Arthritis OMIM:192950
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Chronic oral candidiasis, Lymphadenopathy, Thyroiditis, Decreased proportio... ORPHA:83471
Refractory Celiac Disease
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Osteoporosis, Autoimmune antibody p... ORPHA:398063
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hepatomegaly, Polyarticular arthritis, Increased circulating IgG lev... OMIM:617388
Popliteal Cyst
Joint swelling, Abnormality of the knee OMIM:175750
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Crohn's disease, Acute pancreatitis, Ly... OMIM:618935
Blau Syndrome
Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Polyarticular arthritis, Xerostomia,... ORPHA:90340
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Bronchiectasis, Sinusitis, T lymphocytopenia, Increased circulating IgM level, Pneumonia, Decreas... OMIM:242860
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Autosomal Dominant Severe Congenital Neutropenia
Osteopenia, Aplastic anemia, Recurrent aphthous stomatitis, Acute myeloid leukemia, Periodontitis... ORPHA:486
Pediatric Systemic Lupus Erythematosus
Skin rash, Discoid lupus rash, Ascites, Leukopenia, Lymphopenia, Edema, Nephritis, Antinuclear an... ORPHA:93552
Sarcoidosis
Increased T cell count, Leukopenia, Erythema nodosum, Enlarged lacrimal glands, Bone cyst, Portal... ORPHA:797
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Increased circulating IgE level, Leukocytosis ORPHA:2902
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Decreased circulating IgG level, Abnormal circulating IgA level,... OMIM:241600
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Beukes Hip Dysplasia
Osteoarthritis, Shallow acetabular fossae OMIM:142669
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,... OMIM:313900
Monosomy 22
Hypochromic microcytic anemia, Seborrheic dermatitis, Hyperhidrosis, Hepatosplenomegaly, Aplasia ... ORPHA:96123
Adult Idiopathic Neutropenia
Increased circulating IgM level, Lymphopenia, Monocytopenia, Monocytosis, Neutropenia ORPHA:2688
Majeed Syndrome
Acne, Hypochromic microcytic anemia, Hepatomegaly, Increased bone mineral density, Bone pain, Leu... ORPHA:77297
Common Variable Immunodeficiency
Chronic otitis media, Emphysema, Lymphadenopathy, Recurrent respiratory infections, Recurrent bro... ORPHA:1572
Beta-Thalassemia Intermedia
Reduced bone mineral density, Anemia of inadequate production, Splenomegaly, Decreased mean corpu... ORPHA:231222
Epiphyseal Dysplasia, Multiple, 3
Limited elbow extension, Delayed epiphyseal ossification, Limited knee extension, Osteoarthritis,... OMIM:600969
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Chronic oral candidiasis, Acute otitis media, Impaired lymphocyte transformation with phytohemagg... ORPHA:35078
Pfapa Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent pharyngitis, Arthritis, Splenomegaly, Infectious encepha... ORPHA:42642
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc... OMIM:613179
Immunodeficiency 23
Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgM level... OMIM:615816
Autosomal Dominant Dopa-Responsive Dystonia
Rheumatoid arthritis, Hypothyroidism, Progressive flexion contractures ORPHA:98808
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Wormian bones, Joint hypermobility, Osteoporosis ORPHA:2787
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Decreased circulating total IgM, Polyhydramnios, Decreased proportion of ... ORPHA:508533
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level OMIM:616069
Osteosarcoma
Pathologic fracture, Joint swelling, Osteolysis ORPHA:668
Avascular Necrosis Of Femoral Head, Primary, 1
Generalized osteoporosis, Avascular necrosis of the capital femoral epiphysis OMIM:608805
Alpha-Mannosidosis
Chronic otitis media, Hepatomegaly, Avascular necrosis, Craniofacial hyperostosis, Arthritis, Syn... ORPHA:61
Diarrhea 5, With Tufting Enteropathy, Congenital
Arthritis OMIM:613217
Moderate Hemophilia A
Arthropathy, Limitation of joint mobility, Synovitis, Hip contracture, Joint hemorrhage, Joint sw... ORPHA:169805
Bone Marrow Failure Syndrome 4
Anemia, Decreased circulating antibody level, Eczematoid dermatitis, Bone marrow hypocellularity,... OMIM:618116
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Skin rash, Thrombocytopenia, S... OMIM:603552
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Bronchiectasis, Metopic synostosis, Decreased proportion of CD4-positive T cells ORPHA:477814
Q Fever
Increased circulating antibody level, Granuloma, Pericarditis, Splenomegaly, Cholecystitis, Myoca... ORPHA:781
Systemic Sclerosis
Myocarditis, Anti-RNA-polymerase-III-autoantibody positivity, Abnormal pulmonary interstitial mor... ORPHA:90291
Hip Dysplasia, Beukes Type
Abnormality of bone mineral density, Abnormal bone ossification, Abnormal ossification involving ... ORPHA:2114
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased proportion of class-switched memory B cells, Bronchiol... OMIM:614878
Aregenerative Anemia
Lymphadenopathy, Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells,... ORPHA:101096
Spondylosis, Cervical
Osteoarthritis OMIM:184300
Hemochromatosis, Type 3
Cirrhosis, Anemia, Arthritis, Lymphopenia, Neutropenia OMIM:604250
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating total IgM, Panniculitis, Optic neuritis, Complete or near-complete absence ... OMIM:301081
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Bronchiolitis, Neutrophi... OMIM:266265
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Primary hypothyroidism, Generalized osteoporosis, Delayed skeletal maturation, Lymphopenia, Thyro... ORPHA:391487
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Splenomegaly, Psoriasiform dermatitis, Neutropenia, Thyroiditis, Pneumonia, Autoimmune thrombocyt... ORPHA:37042
Insulin Autoimmune Syndrome
Increased circulating antibody level, Arthralgia/arthritis, Autoimmune antibody positivity, Syste... ORPHA:411593
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615269
Eosinophilic Fasciitis
Myositis, Arthritis, Muscular edema, Abnormal eosinophil morphology, Edema, Eosinophilia, Fasciitis ORPHA:3165
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent pneumonia, Recurrent... OMIM:616576
Boutonneuse Fever
Lymphadenopathy, Increased circulating IgG level, Skin rash, Increased circulating IgM level, Leu... ORPHA:83313
Zika Virus Disease
Ankle swelling, Wrist swelling, Myelitis, Arthritis, Skin rash, Increased circulating IgM level, ... ORPHA:448237
Sézary Syndrome
Hepatomegaly, Abnormal immunoglobulin level, Lymphadenopathy, Abnormal lymphocyte morphology, Spl... ORPHA:3162
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... ORPHA:2585
Albers-Schönberg Osteopetrosis
Genu valgum, Anemia, Joint dislocation, Avascular necrosis, Bone pain, Arthritis, Recurrent fract... ORPHA:53
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Immunodeficiency 40
Chronic oral candidiasis, Recurrent otitis media, Macrovesicular hepatic steatosis, Hepatomegaly,... OMIM:616433
Alkaptonuria
Reduced bone mineral density, Prostatitis, Joint dislocation, Black pigment gallstones, Arthritis... ORPHA:56
Brucellosis
Bronchitis, Granuloma, Pericarditis, Hyperhidrosis, Leukopenia, Splenomegaly, Anterior uveitis, M... ORPHA:1304
Omenn Syndrome
Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymphocytopenia, T... OMIM:603554
Chromosome 15Q11.2 Deletion Syndrome
Juvenile rheumatoid arthritis, Joint contracture, Elbow contracture OMIM:615656
Roifman Syndrome
Recurrent otitis media, Lymphadenopathy, Decreased circulating antibody level, Eczematoid dermati... ORPHA:353298
Hyper-Igd Syndrome
Chronic oral candidiasis, Lymphadenopathy, Arthritis, Skin rash, Increased circulating IgA level,... OMIM:260920
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Polyhydramnios, Recurrent aspiration pneumonia, Osteoporosis OMIM:619971
Immunodeficiency 46
Chronic oral candidiasis, Anemia, Decreased circulating antibody level, Intermittent thrombocytop... OMIM:616740
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis ORPHA:93283
Leishmaniasis
Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopathy, Pancytopenia, Abnorm... ORPHA:507
Congenital Disorder Of Glycosylation, Type Iir
Jaundice, Hepatomegaly, Decreased circulating antibody level, Micronodular cirrhosis, Decreased p... OMIM:301045
Papa Syndrome
Increased circulating antibody level, Lymphadenopathy, Myositis, Arthritis, Crohn's disease, Limi... ORPHA:69126
Immune Dysregulation, Autoimmunity, And Autoinflammation
Decreased circulating complement C3 concentration, Cervical lymphadenopathy, Increased circulatin... OMIM:620514
Netherton Syndrome
Hypereosinophilia, Increased circulating IgE level, Decreased circulating IgG level OMIM:256500
Immunodeficiency 7
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hepatomegaly, Lymp... OMIM:615387
Neonatal Alloimmune Neutropenia
Pneumonia, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Antineutrophil antibod... ORPHA:464370
Aspergillosis
Hypersensitivity pneumonitis, Pleuritis, Increased circulating IgE level, Pleural effusion, Bronc... ORPHA:1163
Fusariosis
Lung abscess, Hypersensitivity pneumonitis, Panniculitis, Maculopapular exanthema, Myositis, Arth... ORPHA:228119
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis, Limitation of movement at ankles, Limited elbow fl... ORPHA:206594
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis, Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenome... OMIM:612840
Prieto Syndrome
Patellar dislocation, Cryptorchidism, Patellar subluxation, Osteoporosis OMIM:309610
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Recurrent otitis media, Abnormal B cell morphology, Decreased circulating antibody level, Agammag... OMIM:616910
Congenital Pseudoarthrosis Of The Clavicle
Osteoarthritis ORPHA:66630
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... ORPHA:98849
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis OMIM:619248
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Cryptorchidism, Patellar subluxation, Osteoporosis ORPHA:2958
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Defective T cell proliferation, Increased circulating IgG level, Increased circ... OMIM:618213
Familial Cold Autoinflammatory Syndrome 1
Arthritis, Skin rash, Leukocytosis, Conjunctivitis, Uveitis OMIM:120100
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology ORPHA:545
Familial Afibrinogenemia
Joint swelling ORPHA:98880
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Joint hypermobility, Osteoporosis, Anti-GAD65 antibody OMIM:616033
Chondroectodermal Dysplasia With Night Blindness
Osteopenia, Fractures of the long bones, Osteoporosis, Delayed skeletal maturation, Hyperhidrosis... ORPHA:319195
Idiopathic Non-Lupus Full-House Nephropathy
Arthritis, Skin rash, Synovitis, Serositis, Glomerulonephritis ORPHA:567544
Classic Mycosis Fungoides
Hepatomegaly, Lymphadenopathy, Skin rash, Abnormal lymphocyte morphology, Eczematoid dermatitis, ... ORPHA:2584
Epidermodysplasia Verruciformis, Susceptibility To, 4
Increased proportion of exhausted T cells OMIM:618307
Melioidosis
Lung abscess, Prostatitis, Liver abscess, Acute infectious pneumonia, Foot osteomyelitis, Parotit... ORPHA:31202
Cinca Syndrome
Reduced bone mineral density, Anemia, Hepatomegaly, Joint dislocation, Inflammatory abnormality o... ORPHA:1451
Progressive Multifocal Leukoencephalopathy
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells ORPHA:217260
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Osteoporosis, Bone marrow ... OMIM:127550
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Arthropathy, Hepatocellular carcinoma, Pleural effusion, Ascites, Osteop... OMIM:235200
Blau Syndrome
Iritis, Flexion contracture of toe, Arthritis, Cystoid macular edema, Synovitis, Eczematoid derma... OMIM:186580
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Cubitus valgus, Lymphadenopathy, Avascular necrosis, Decreased circulating antibody level, Hypoth... OMIM:619750
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Lymphopenia, Abn... OMIM:619767
Reactive Arthritis
Recurrent aphthous stomatitis, Arthritis, Joint stiffness, Pericarditis, Pustule, Inflammation of... ORPHA:29207
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Congenital bilateral hip dislocation, Joint subluxation, Contracture of the proximal ... OMIM:130060
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Emphysema, Lymphadenopathy, Joint dislocation, Inflammatory abnormality of the eye,... ORPHA:36412
Propionic Acidemia
Hepatomegaly, Pancreatitis, Anemia, Pancytopenia, Dehydration, Osteoporosis, Eczematoid dermatiti... OMIM:606054
Paget Disease Of Bone 6
Recurrent fractures, Osteoarthritis OMIM:616833
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Increased circulating interleukin 6 concentration, Thrombocytosis, Iron deficie... OMIM:301074
Flynn-Aird Syndrome
Joint stiffness, Increased bone mineral density, Osteoporosis, Increased bone density with cystic... OMIM:136300
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal carpal morphology, Genu valgum, Limitation of joint mobility, Synostosis of carpal bones... ORPHA:93351
Dyskeratosis Congenita, Autosomal Dominant 2
Aplastic anemia, Avascular necrosis, Pancytopenia, Osteoporosis, Bone marrow hypocellularity, Leu... OMIM:613989
Graft Versus Host Disease
Gastrointestinal inflammation, Limited elbow movement, Dupuytren contracture, Jaundice, Hemophago... ORPHA:39812
Cyclic Neutropenia
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Periodontitis, Bone pain, Decreased eos... ORPHA:2686
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Chronic otitis media, Osteopenia, Atelectasis, Skin rash, Increased circulating IgE level, Eczema... ORPHA:2314
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Chronic oral candidiasis, Decreased circulating total IgG, Palpebral edema, Arthritis... ORPHA:221139
Ehlers-Danlos Syndrome, Hypermobility Type
Joint hypermobility, Osteoarthritis, Joint dislocation OMIM:130020
Sickle Cell Anemia
Chronic hemolytic anemia, Jaundice, Iron deficiency anemia, Avascular necrosis, Cholelithiasis, I... ORPHA:232
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Wrist swelling, Osteoarthritis of the elbow, Pleuritis, Knee osteoarthritis, Polyarticular arthro... ORPHA:2848
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Oculocerebrorenal Syndrome Of Lowe
Chronic otitis media, Cheilitis, Genu valgum, Anemia, Atelectasis, Recurrent respiratory infectio... ORPHA:534
Dominant Beta-Thalassemia
Splenomegaly, Decreased mean corpuscular volume, Adrenal insufficiency, Jaundice, Hepatocellular ... ORPHA:231226
Acquired Partial Lipodystrophy
Decreased circulating complement C3 concentration, Autoimmunity, Hepatic steatosis, Lymphocytosis ORPHA:79087
Immunodeficiency 66
Defective T cell proliferation OMIM:618847
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Increased circulating IgE level, Increased circulating IgA level, Le... OMIM:620565
Osteoporosis
Osteoporosis OMIM:166710
Familial Hemophagocytic Lymphohistiocytosis
Abnormal circulating cytokine concentration, Cholestatic liver disease, Jaundice, Increased circu... ORPHA:540
Whim Syndrome
Severe periodontitis, Atelectasis, Parotitis, Decreased circulating antibody level, Lymphadenitis... ORPHA:51636
Isolated Glycerol Kinase Deficiency
Cryptorchidism, Osteoporosis ORPHA:408
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Polyhydramnios, Impaired lymphocyte transformation with phytohemaggl... OMIM:243150
Hypergonadotropic Hypogonadism-Cataract Syndrome
Reduced bone mineral density, Osteoporosis, Secondary growth hormone deficiency, Delayed skeletal... ORPHA:2410
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Panhypogammaglobulinemia, Recurrent respiratory infections, Rectal absces... OMIM:601495
Ataxia-Telangiectasia
Delayed puberty, Hypoplasia of the thymus, T lymphocytopenia, Female hypogonadism, Decreased circ... OMIM:208900
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Bone marrow hypocellularity, Recurrent sinusitis, Leukopenia, Splenomegaly, Lymphopeni... OMIM:615688
Progressive Osseous Heteroplasia
Ectopic ossification in muscle tissue, Limitation of joint mobility, Osteoarthritis ORPHA:2762
Deafness-Lymphedema-Leukemia Syndrome
Chronic otitis media, Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, L... ORPHA:3226
Immunodeficiency 54
Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ... OMIM:609981
Dyskeratosis Congenita, Autosomal Dominant 3
Osteopenia, Aplastic anemia, Abnormal pulmonary interstitial morphology, Anemia, Macrocytic anemi... OMIM:613990
Catastrophic Antiphospholipid Syndrome
Myocarditis, Abnormal circulating cytokine concentration, Lupus anticoagulant, Avascular necrosis... ORPHA:464343
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Osteochondritis dissecans, Hip osteoarthritis, Premature osteoarthritis OMIM:165800
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Decreased circulating antibody level, Leukocytosis, Sple... OMIM:618042
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Eczematoid dermatitis, Bone marrow hypocellularity, Le... OMIM:616871
Tempi Syndrome
Increased circulating IgG level, Polycythemia, Increased hematocrit ORPHA:284227
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level, Ascites, Bone marr... ORPHA:381
Primary Sjögren Syndrome
Increased circulating antibody level, Normochromic anemia, Optic neuritis, Bronchitis, Biliary ci... ORPHA:289390
Premature Ovarian Failure 2B
Osteoporosis OMIM:300604
Anti-Glomerular Basement Membrane Disease
Arthritis, Anemia, Autoimmunity ORPHA:375
Pseudoachondroplasia
Limited elbow extension, Wind-swept deformity of the knees, Acetabular dysplasia, Genu valgum, De... ORPHA:750
Primary Biliary Cholangitis
Gastrointestinal inflammation, Cirrhosis, Jaundice, Hepatomegaly, Increased circulating IgA level... ORPHA:186
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia, Lymphedema ORPHA:1116
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ... ORPHA:90362
Eosinophilopenia
Autoimmunity, Allergic rhinitis, Decreased eosinophil count OMIM:131430
Rothmund-Thomson Syndrome, Type 1
Hypothyroidism, Delayed skeletal maturation, Recurrent otitis media, Osteoporosis OMIM:618625
Sydenham Chorea
Septic arthritis, Endocarditis ORPHA:306731
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Enthesitis, Anteri... OMIM:106300
Immunodeficiency 31C
Autoimmune hemolytic anemia, Chronic oral candidiasis, Osteopenia, Hepatomegaly, Impaired lymphoc... OMIM:614162
Hyaline Fibromatosis Syndrome
Osteopenia, Osteoporosis, Flexion contracture, Progressive flexion contractures, Osteolysis OMIM:228600
Systemic Lupus Erythematosus, Susceptibility To, 6
Malar rash, Arthritis, Pericarditis OMIM:609939
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
Iga Pemphigus
Increased circulating IgA level, Monoclonal elevation of circulating IgA, Eosinophilia, Pustule, ... ORPHA:555905
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615271
Immunodeficiency 91 And Hyperinflammation
Abnormal pulmonary interstitial morphology, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Recu... OMIM:619644
Bone Marrow Failure Syndrome 6
Osteopenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Hypothyroidis... OMIM:618849
Urban-Rogers-Meyer Syndrome
Flexion contracture of toe, Increased circulating IgE level, Osteoporosis, Camptodactyly of finge... ORPHA:3409
Cerebrooculofacioskeletal Syndrome 1
Elbow flexion contracture, Dehydration, Camptodactyly, Osteoporosis, Cryptorchidism, Recurrent pn... OMIM:214150
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Prostatitis, Abnormal salivary gland morphology, Increased circulating ...