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
Immunodeficiency 40
Lymphopenia OMIM:616433
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Reticular Dysgenesis
Leukopenia, Lack of T cell function, Congenital agranulocytosis, Impaired T cell function, Hypopl... OMIM:267500
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
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Osteoarthritis Susceptibility 2
Heberden's node, Osteoarthritis OMIM:140600
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
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Reduced proportio... OMIM:615897
Immunodeficiency 18
Lymphopenia, Defective T cell proliferation, Decreased proportion of CD3-positive T cells OMIM:615615
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Chondrocalcinosis 2
Arthropathy, Osteoarthritis, Polyarticular chondrocalcinosis OMIM:118600
Osteoarthritis Susceptibility 3
Osteoarthritis, Joint stiffness, Osteoarthritis of the distal interphalangeal joint, Osteoarthrit... OMIM:607850
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Chondrocalcinosis 1
Chondrocalcinosis, Osteoarthritis OMIM:600668
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... OMIM:312863
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Lymphopenia, Abnormal T cell morphology, Decreased circulating I... OMIM:247630
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
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased serum complement C4, Autoimmunity, Recurrent otitis media, Autoimmune hemolytic anemia,... OMIM:615559
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Thrombocytopenia, Reduced natural killer cell activity, Decreased... OMIM:614493
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Splenomegaly, Cutaneous anergy, Decreased helper T cell proportion, Hypersplenism OMIM:183350
Immunodeficiency 8
Lymphopenia OMIM:615401
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Autoimmunity, Decreased proportion of CD3-positive T cells, Hash... ORPHA:275
Selective Igm Deficiency
Autoimmunity, Decreased proportion of CD3-positive T cells, Hashimoto thyroiditis, Rheumatoid art... ORPHA:331235
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Decr... OMIM:606843
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Immunodeficiency 72 With Autoinflammation
Increased circulating IgG level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Cutaneous abscess, Decreased pr... OMIM:618944
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Autoimmunity, Abnormal circulating interleukin... ORPHA:158061
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells OMIM:615607
Talo-Patello-Scaphoid Osteolysis
Enlarged joints, Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis ORPHA:50809
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Increased circulating IgG level, Complete or near-complete absen... OMIM:610163
Immunodeficiency 64
Decreased circulating IgG level, Autoimmune hemolytic anemia, Anti-thyroid peroxidase antibody po... OMIM:618534
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Leukemia, Impaired lymphocy... OMIM:153600
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Farber Lipogranulomatosis
Limitation of knee mobility, Lipogranulomatosis, Osteolysis involving bones of the feet, Splenome... OMIM:228000
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, T lymphocytopenia, Recurrent otitis media, Recurrent upper respiratory tract infection... ORPHA:277
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmunity, Autoimmune hemolytic anemia, Autoimmune thrombocyto... ORPHA:100026
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Increased circulating IgM level, Decreased proport... OMIM:617241
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Symmetric polyarthritis, Osteopenia, Rheumatoid f... ORPHA:85435
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Synovitis, Osteolysis of scaphoids, Osteolysis of patellae OMIM:609655
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Abnormality of the thymus, Decr... OMIM:611926
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Increased circulating IgM level, Decreased specific pneumococcal antibody leve... OMIM:615513
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Autoimmune hemolytic anemia, Iron deficiency anemia, Malar rash, Elev... OMIM:603909
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Splenomegaly, Pleural effusion, Hepatomegaly, Lymphadenopathy, Pericarditis, Anteri... ORPHA:85414
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Thymoma
Autoimmunity, Myositis, Neoplasia of the pleura, Leukemia, Abnormal lymphocyte proliferation, Abn... ORPHA:99867
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, B lymphocytopenia, Abnormally low T cell receptor excision circl... OMIM:618987
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Increased circulating IgE level, Decreased... OMIM:615767
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Purulent rhinitis, Pneumonia, Conjunctivitis, Panhypogammaglobulinemia, B lymp... OMIM:601457
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Mu-Heavy Chain Disease
Splenomegaly, Osteoporosis, Hepatomegaly, Abnormal B cell count, Anemia, Increased circulating an... ORPHA:100024
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmunity, T lymphocytopenia, Recurrent otitis media, Pneumonia, Restrictive ventilatory defec... OMIM:607944
Angel-Shaped Phalangoepiphyseal Dysplasia
Premature osteoarthritis, Delayed ossification of carpal bones, Hip osteoarthritis, Hyperextensib... OMIM:105835
Adult-Onset Still Disease
Restrictive ventilatory defect, Leukocytosis, Bone marrow hypocellularity, Neutrophilia, Splenome... ORPHA:829
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgG level, Recurrent otitis media, Viral hepatitis, Autoimmunity, Cholangit... ORPHA:183675
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Autoimmune Polyendocrinopathy Type 4
Autoimmunity, Biliary cirrhosis, Aplasia/Hypoplasia of the spleen, Iridocyclitis, Rheumatoid arth... ORPHA:227990
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Kienbock Disease
Abnormality of the wrist, Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans ORPHA:97332
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Flexion contracture, Osteomyelitis, Joint swelling, Erythr... OMIM:609628
Pyoderma Gangrenosum
Myositis, Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibo... ORPHA:48104
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Autoimmune Polyendocrinopathy Type 3
Autoimmunity, Biliary cirrhosis, Aplasia/Hypoplasia of the spleen, Hashimoto thyroiditis, Iridocy... ORPHA:227982
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... OMIM:300400
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent otitis media, Recurre... OMIM:607594
Juvenile Idiopathic Arthritis
Autoimmunity, Uveitis, Joint stiffness, Splenomegaly, Abnormal pleura morphology, Joint dislocati... ORPHA:92
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, Pn... OMIM:607271
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased circulating IgM level, Increased circulating IgA level, Neutrophilia, Inc... OMIM:617099
Felty Syndrome
Neutropenia, Splenomegaly, Rheumatoid arthritis OMIM:134750
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Recurrent otitis media, Autoimmune thrombocytopenia, Decreased CD4:C... OMIM:300853
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Hepatosplenomegaly... OMIM:619126
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Rheumatoid arthritis, Antinuclear antibody positivity, Increased circulating antibody level, Syst... OMIM:178610
Kimura Disease
Eosinophilia, Increased circulating IgE level ORPHA:482
Mixed Connective Tissue Disease
Autoimmunity, Avascular necrosis, Abnormal pulmonary interstitial morphology, Skin rash, Leukopen... ORPHA:809
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Decreased circulating antibody level, Anemia, B lymphocytope... ORPHA:169079
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Autoimmune hemolytic anemia, Iron deficiency anemia, Elevated proport... OMIM:601859
Immunodeficiency 104
T lymphocytopenia, Pneumonia, Splenomegaly, Hepatomegaly, Eczema, Otitis media, Lymphadenopathy OMIM:608971
Overlap Myositis
Autoimmunity, Subluxation of the small joints of the hand, Leukopenia, Systemic lupus erythematos... ORPHA:206572
Immunodeficiency 50
Neutropenia, Lymphopenia, Decreased circulating antibody level OMIM:300988
Immunodeficiency 19
Lymphopenia OMIM:615617
Neutropenia, Chronic Familial
Neutropenia, Increased circulating antibody level OMIM:162700
Immunodeficiency 52
Recurrent pneumonia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly,... OMIM:617514
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Flexion contracture, Hepatosplenomegaly, Hip osteoarthritis, Joint stiffness, Knee osteoarthritis... ORPHA:85408
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Increased circulating IgE level OMIM:212050
Complement Component C1R/C1S Deficiency
Nephritis, Discoid lupus rash, Arthritis OMIM:216950
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver OMIM:235550
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... OMIM:618261
Osteochondrosis Of The Tarsal Bone
Osteochondritis dissecans, Tarsal sclerosis, Abnormal tarsal ossification, Tarsal stippling, Chon... ORPHA:563991
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Abnormal circulating interleukin concentration, Uveitis, Knee osteoarthritis, Abnor... ORPHA:85410
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Neutropenia, Anemia, Increased circulating antibody level, Thrombocytop... OMIM:615285
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Myasthenia Gravis
Myositis, Primary adrenal insufficiency, Hashimoto thyroiditis, Abnormality of the thymus, Hypert... ORPHA:589
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating total IgM, Agammaglobulinemia, Transient n... OMIM:619707
Subcorneal Pustular Dermatosis
Autoimmunity, Hypothyroidism, Hyperthyroidism, Systemic lupus erythematosus, Rheumatoid arthritis... ORPHA:48377
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Secondary Non-Traumatic Avascular Necrosis
Autoimmunity, Avascular necrosis, Systemic lupus erythematosus, Rheumatoid arthritis, Bone pain, ... ORPHA:399180
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmunity, Recurrent otitis media, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, In... OMIM:618495
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Tenosynovial Giant Cell Tumor
Joint stiffness, Polyarticular arthropathy, Abnormality of the ankles, Abnormal hip joint morphol... ORPHA:66627
Arthritis, Sacroiliac
Sacroiliac arthritis OMIM:108100
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Increased circulating IgG level, Thrombocytosis,... OMIM:209950
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Autoimmune Lymphoproliferative Syndrome
Decreased circulating IgG level, Autoimmunity, Uveitis, Rheumatoid factor positive, Autoimmune he... ORPHA:3261
Schnitzler Syndrome
Leukocytosis, Increased bone mineral density, Increased circulating IgM level, Splenomegaly, Hepa... ORPHA:37748
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Agammaglobulinemia, Decreased circulating IgA level, Absent circ... OMIM:613500
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Increased circulating IgG level, Increased circulating IgM level, Autoimm... OMIM:619220
Transcobalamin Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... ORPHA:859
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Abnormality of the lymph nodes, Hepatosplenomegaly, Pneumonia, Stomatitis, Lymphade... ORPHA:911
Immunodeficiency 48
Pneumonia, Splenomegaly, Hepatomegaly, Panhypogammaglobulinemia, Eczematoid dermatitis OMIM:269840
Immunodeficiency 67
Liver abscess, Increased circulating IgE level, Transient neutropenia OMIM:607676
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Lymphoid Interstitial Pneumonia
Autoimmunity, Hypoxemia, Crackles, Rheumatoid arthritis, Pulmonary venous hypertension, Wheezing,... ORPHA:79128
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Panner Disease
Osteochondrosis, Large elbow, Limited elbow extension, Stiff elbow, Abnormality of upper limb joi... ORPHA:97336
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Generalized morning stiffness, Constrictive pericarditis, Arthritis, Arthropathy, Wrist flexion c... OMIM:208250
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent upper respiratory tra... OMIM:616100
Brachydactylous Dwarfism, Mseleni Type
Joint subluxation, Osteopenia, Hip osteoarthritis, Knee osteoarthritis, Abnormality of the ankles... ORPHA:2619
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteopenia, Periostitis, Neutrophilia, Splenomegaly, Hepatomegaly, Osteomyelitis, Osteolysis, Fus... OMIM:612852
Wilson Disease
Hepatic steatosis, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Hepatitis, Pathologic... ORPHA:905
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmunity, Recurrent otitis media, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, S... ORPHA:444463
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia ORPHA:217390
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia, Agammaglobulinemia OMIM:615214
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, T lymphocytopenia, Decreased proportion of memory B cells, Decre... OMIM:619510
Immunodeficiency 7
Hypereosinophilia, Lymphadenopathy OMIM:615387
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia, Decreased c... OMIM:613502
Osteochondritis Dissecans
Decreased hip abduction, Joint stiffness, Abnormality of musculoskeletal physiology, Limited elbo... ORPHA:2764
Immunodeficiency 82 With Systemic Inflammation
Recurrent otitis media, Decreased circulating total IgG, Osteomalacia, Anemia, Hepatitis, Reduced... OMIM:619381
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Chronic decreased circulating total IgG, Reduced isohemagglutini... OMIM:613493
Isolated Agammaglobulinemia
Abnormal lymphocyte morphology, Sinusitis, Recurrent cutaneous abscess formation, Pneumonia, Auto... ORPHA:229717
Pachydermoperiostosis
Genu varum, Limitation of joint mobility, Avascular necrosis, Splenomegaly, Osteoporosis, Acne, E... ORPHA:2796
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating total IgM, Cutaneous abscess, Decreased ci... OMIM:619752
Rheumatoid Arthritis
Joint stiffness, Rheumatoid factor positive, Polyarticular arthritis, Rheumatoid arthritis, Joint... OMIM:180300
Congenital Atransferrinemia
Arthritis ORPHA:1195
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Autoimmunity, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hep... OMIM:614470
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Spondyloenchondrodysplasia
Pancytopenia, Autoimmunity, Anti-dsDNA antibody positivity, Hypothyroidism, Pneumonia, Autoimmune... ORPHA:1855
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Incre... OMIM:202700
Felty Syndrome
Autoimmunity, Episcleritis, Anemia, Abnormal joint morphology, Thrombocytopenia, Recurrent pneumo... ORPHA:47612
Familial Calcium Pyrophosphate Deposition
Arthritis, Joint dislocation, Osteoarthritis, Chondrocalcinosis, Joint swelling, Limitation of jo... ORPHA:1416
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Decreased circulating IgG level, Recurrent otitis media, Hypothyroidism, Uveitis, C... OMIM:614700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia, Decreased c... OMIM:612692
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Decreased circulating IgG level, Recurrent otitis media, Abnormally low T cell rece... OMIM:618986
Cranio-Osteoarthropathy
Joint stiffness, Arthritis, Osteoarthritis, Eczema, Abnormality of the knee, Joint swelling, Abno... ORPHA:1525
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Autoimmunity, Recurrent pneumonia, Thrombocytosis, Megaloblastic anemia, Septic art... OMIM:617780
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Arthritis, Abnormal pleura morphology, Lymphopenia, Limitation of joint mobility ORPHA:2582
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Farber Disease
Recurrent upper respiratory tract infections, Hepatosplenomegaly, Flexion contracture, Hepatic fi... ORPHA:333
Lichtenstein Syndrome
Increased susceptibility to fractures, Osteoporosis, Decreased circulating IgA level, Neutropenia... OMIM:246550
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased circulating total IgM, Increased circulating IgG level, Decreased proport... OMIM:243700
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Decreased circulating total IgM OMIM:610798
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Decreased circulating IgG level, Reduced natural killer cell activity, Hemophagocyt... OMIM:308240
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, Decreased proportion of memory B cells, Decreased specific antibody response to protei... ORPHA:70593
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased circulating IgG level, Defective B cell differentiatio... OMIM:617765
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
X-Linked Lymphoproliferative Disease
Pancytopenia, Decreased circulating IgG level, Autoimmunity, Histiocytosis, Absent natural killer... ORPHA:2442
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Stiff interphalangeal joints, Joint stiffness, Portal hypertension, Cholangiocarc... ORPHA:465508
Immunodeficiency 89 And Autoimmunity
Increased circulating IgG level, Decreased eosinophil count, Increased circulating IgA level, Inc... OMIM:619632
Progressive Pseudorheumatoid Dysplasia
Genu varum, Joint stiffness, Osteoarthritis, Osteoporosis, Enlarged interphalangeal joints, Arthr... OMIM:208230
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia, Recurrent otitis media, Craniosynostosis, Bronchiectasis, Eczema, Recurrent respira... OMIM:618523
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Abnormal immunoglo... ORPHA:276
Severe Hemophilia A
Limb joint contracture, Anemia, Synovitis, Joint hemorrhage, Progressive joint destruction, Joint... ORPHA:169802
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Immunodeficiency 70
Decreased circulating total IgM, Decreased circulating total IgG, Decreased proportion of CD4-pos... OMIM:618969
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Decreased circulating IgG level, Recurrent pneumonia, Hepatosplenomegaly, Decreased... ORPHA:169160
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Osteoarthritis, Hip osteoarthritis OMIM:271600
Immunodeficiency 13
T lymphocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, ... OMIM:615518
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Autoimmunity, Decre... OMIM:240500
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Autoimmunity, Decreased specific pneumococcal antibody level, Colitis, I... OMIM:617006
Sinding-Larsen-Johansson Disease
Knee pain, Limitation of knee mobility, Painless fractures due to injury, Osteochondrosis, Joint ... ORPHA:97337
Mueller-Weiss Syndrome
Limitation of movement at ankles, Joint subluxation, Sclerosis of foot bone, Joint stiffness, Kne... ORPHA:566943
Tularemia
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Pneumonia, Erythema nodosum, Cutaneous ... ORPHA:3392
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent pneumonia, Leukocytos... OMIM:619281
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Anti-dsDNA antibody positivity, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Gl... OMIM:619375
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus OMIM:602450
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Mastocytosis, Maculopapular exanthema, Osteoporosis, Splenomegaly,... ORPHA:98848
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Recurrent otitis media, Recurrent upper respiratory tract infections, Pneumoni... OMIM:600802
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Decreased circulating antibody level, B lymphocytopenia, Perianal abscess, Par... OMIM:618108
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent otitis media, Recurrent skin infections, Pneumon... OMIM:613953
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
Intermittent Hydrarthrosis
Chondrocalcinosis, Joint swelling, Knee joint hypermobility, Abnormality of the knee ORPHA:329967
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Recurrent pneumonia, Craniosynostosis, Osteopenia, Recurrent fractures, Cutaneous a... OMIM:147060
Interstitial Granulomatous Dermatitis With Arthritis
Rheumatoid arthritis, Rheumatoid factor positive, Inflammatory abnormality of the skin ORPHA:79099
Immunodeficiency 92
Decreased circulating IgG level, Sclerosing cholangitis, Leukocytosis, Pneumonia, Cholangitis, Th... OMIM:619652
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased circulating IgG level, Decreased circulating total IgM, Decreased proport... ORPHA:331206
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Autoimmune t... OMIM:608184
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocytosis OMIM:607624
Osteoarthritis With Mild Chondrodysplasia
Knee osteoarthritis, Heberden's node, Joint stiffness, Hip osteoarthritis OMIM:604864
Forsythe-Wakeling Syndrome
Delayed skeletal maturation, Thrombocytopenia, Osteoporosis OMIM:613606
Hemophilia A
Joint swelling, Splenic rupture, Joint hemorrhage, Abnormality of the elbow ORPHA:98878
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased circulating total IgM, Decreased proportion of ... OMIM:618394
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Osteochondrosis, Progressive joint destruction, Chondrit... ORPHA:564003
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Chronic hepatitis, Anemia, Portal fibrosis, Inflammatory abnormality of the skin, Pa... ORPHA:3260
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:619313
Sting-Associated Vasculopathy, Infantile-Onset
Rheumatoid factor positive, Tachypnea, Anemia, Malar rash, Lymphopenia, Skin rash, Leukopenia, Th... OMIM:615934
Progressive Pseudorheumatoid Arthropathy Of Childhood
Generalized osteoporosis, Genu varum, Polyarticular arthropathy, Irregular acetabular roof, Enlar... ORPHA:1159
Peripheral Dysostosis
Osteoarthritis, Joint stiffness ORPHA:1795
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Hepatomegaly, Lymphadenopathy OMIM:618852
Eng-Strom Syndrome
Camptodactyly of finger, Arthritis ORPHA:1937
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Osteoarthritis ORPHA:435804
Hemochromatosis Type 4
Hepatic steatosis, Joint dislocation, Congenital hepatic fibrosis, Cirrhosis, Joint swelling, Lim... ORPHA:139491
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hepatosplenomegaly, Decreased proportion of CD4+CD25+ regulatory T cells, Auto... OMIM:606367
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:605258
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Rheumatoid factor positive, Hashimoto thyroiditis, Hydrocele testis, Systemic ... ORPHA:49041
Ehlers-Danlos Syndrome, Hypermobility Type
Joint laxity, Osteoarthritis, Joint dislocation, Joint hypermobility OMIM:130020
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Sjogren Syndrome
Autoimmunity, Tubulointerstitial nephritis, Rheumatoid arthritis, Keratoconjunctivitis sicca, Xer... OMIM:270150
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Decreased circulating total IgM, Reduced red cell adenosine deaminase level, Autoim... OMIM:102700
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Agammaglobulinemia, Recurrent bronchitis, Neutropenia, Recurrent respirat... OMIM:613501
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Erythema nodosum, Splenomegaly, Recurrent aphthous stomatitis, Lymphadenopathy, Low... OMIM:611762
Immunodeficiency 61
Recurrent otitis media, Agammaglobulinemia, Recurrent respiratory infections, Recurrent sinusitis... OMIM:300310
Lymphoproliferative Syndrome 1
Pancytopenia, Decreased circulating IgG level, Autoimmunity, Leukopenia, Autoimmune hemolytic ane... OMIM:613011
Psoriasis 1, Susceptibility To
Psoriasiform dermatitis, Arthritis OMIM:177900
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Decreased circulating antibody level, Anemia,... OMIM:613101
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Hepatosplenomegaly, Leukemia, Leukocytosis, Portal h... ORPHA:98850
Spondyloepiphyseal Dysplasia Tarda
Knee pain, Premature osteoarthritis, Hip osteoarthritis, Increased bone mineral density, Limited ... ORPHA:93284
Immunodeficiency 81
Reduced antigen-specific T cell proliferation, Impaired neutrophil chemotaxis, Reduced natural ki... OMIM:619374
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Recurrent otitis media, Agammaglobulinemia, Prostatitis, Anemia,... OMIM:300755
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmunity, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive hel... ORPHA:572
Diverticulosis, Small-Intestinal
Rheumatoid arthritis, Thyroiditis, Ulcerative colitis OMIM:223320
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level OMIM:616873
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Recurrent skin infections, Abnormal natural killer cell count, ... OMIM:612260
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Hypothyroidism, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glom... OMIM:304790
Systemic Lupus Erythematosus
Leukopenia, Arthritis, Antiphospholipid antibody positivity, Systemic lupus erythematosus, Hemoly... OMIM:152700
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis OMIM:617772
Diarrhea 5, With Tufting Enteropathy, Congenital
Arthritis OMIM:613217
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Autoimmunity, Hypothyroidism, Recurrent upper respiratory trac... OMIM:615952
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Osteoporosis, Recurrent fractures, Hip dislocation, Hip subluxation OMIM:256720
Immunodeficiency 36
Autoimmunity, Splenomegaly, Decreased circulating antibody level, Bronchiectasis, Recurrent respi... OMIM:616005
Pgm3-Cdg
Autoimmunity, Decreased proportion of CD3-positive T cells, Rheumatoid factor positive, Decreased... ORPHA:443811
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Multicentric Reticulohistiocytosis
Arthritis, Histiocytosis ORPHA:139436
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis ORPHA:2206
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Hypoxemia, Cholestasis, Thr... ORPHA:232
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Sterile abscess, Hepatosplenomegaly, Sterile arthritis, Thromboc... OMIM:604416
X-Linked Agammaglobulinemia
Sinusitis, Recurrent pneumonia, Autoimmunity, Agammaglobulinemia, Thrombocytopenia, Conjunctiviti... ORPHA:47
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Myositis, Flexion contracture, Splenomegaly, Thrombocytopenia, Conjunctivitis, Hepatom... OMIM:617591
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Bullous Impetigo
Recurrent bacterial skin infections, Septic arthritis, Pustule ORPHA:36237
Wiskott-Aldrich Syndrome
Recurrent otitis media, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper ... OMIM:301000
Chilblain Lupus
Rheumatoid factor positive, Asthma, Chronic myelomonocytic leukemia, Antiphospholipid antibody po... ORPHA:90280
Cinca Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Uveitis, Patellar overgrowth, Anemia, Lymphedema,... OMIM:607115
Dracunculiasis
Flexion contracture, Arthritis, Recurrent cutaneous abscess formation, Limitation of joint mobili... ORPHA:231
Omenn Syndrome
Eosinophilia, Splenomegaly, Severe B lymphocytopenia, Anemia, Lymphadenopathy, B lymphocytopenia,... OMIM:603554
Idiopathic Chronic Eosinophilic Pneumonia
Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Hypereosinophi... ORPHA:2902
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Myeloma, Multiple
Paraproteinemia OMIM:254500
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Recurrent otitis media, Pneumonia, Infectious encephalitis, Prostatitis, Decreased res... OMIM:307200
Immunodeficiency 31C
Autoimmunity, Hypothyroidism, Osteopenia, Autoimmune hemolytic anemia, Eczema, Recurrent respirat... OMIM:614162
Sialidosis Type 2
Flexion contracture, Hydrops fetalis, Splenomegaly, Hepatomegaly, Osteoporosis, Dyspnea, Pedal ed... ORPHA:87876
Igg4-Related Aortitis
Hypereosinophilia, Increased circulating IgG4 level, Increased circulating antibody level, Comple... ORPHA:449400
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Recurrent upper respiratory tract infections, Pneumonia, Autoimmune thrombocytopenia, ... OMIM:613179
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia OMIM:152800
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Gaucher Disease Type 1
Pancytopenia, Avascular necrosis, Anemia, Pedal edema, Ascites, Bone pain, Hypersplenism, Thrombo... ORPHA:77259
Achalasia, Familial Esophageal
Rheumatoid arthritis, Keratoconjunctivitis sicca, Xerostomia OMIM:200400
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Camptodactyly, Osteopenia, Osteoporosis, Joint contracture of the hand OMIM:264010
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Decreased circulating total IgM, Agammaglobulinemia, Neutropenia... OMIM:619705
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Autosomal Agammaglobulinemia
Sinusitis, Recurrent skin infections, Agammaglobulinemia, Cough, Conjunctivitis, Bronchiectasis, ... ORPHA:33110
Burkitt Lymphoma
Abnormality of the liver, Abnormality of the pancreas, Abnormality of the ovary, Decreased propor... ORPHA:543
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Chronic hepatitis, Hepatitis, Thrombocytopenia, Sclerosing chola... OMIM:308230
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in ligament tissue, Anemia, Ectopic ossification in muscle tissue, Synostosi... ORPHA:337
Reticular Dysgenesis
Leukopenia, Decreased circulating antibody level, Abnormality of neutrophils, Anemia, Recurrent r... ORPHA:33355
Winchester Syndrome
Carpal osteolysis, Generalized osteoporosis, Osteolysis involving tarsal bones, Arthropathy OMIM:277950
Erdheim-Chester Disease
Increased bone mineral density, Avascular necrosis, Cough, Pleural effusion, Dyspnea, Retroperito... ORPHA:35687
Lyme Disease
Infectious encephalitis, Joint swelling, Uveitis, Arthritis ORPHA:91546
Whim Syndrome 1
Neutropenia, Decreased circulating IgG level, Decreased circulating antibody level OMIM:193670
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Beukes Hip Dysplasia
Osteoarthritis, Shallow acetabular fossae OMIM:142669
Common Variable Immunodeficiency
Emphysema, Restrictive ventilatory defect, Pneumonia, Abnormality of the liver, Autoimmune thromb... ORPHA:1572
Extensor Tendons Of Finger Anomalies
Camptodactyly of finger, Osteoporosis, Limitation of joint mobility ORPHA:3294
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Premature ovarian insu... ORPHA:100025
Familial Avascular Necrosis Of Femoral Head
Hip osteoarthritis, Limited hip movement ORPHA:86820
Autoimmune Hepatitis
Viral hepatitis, Ascites, Ulcerative colitis, Sclerosing cholangitis, Jaundice, Inflammation of t... ORPHA:2137
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased circulating total IgM, Increased circulating IgA level, Absent microvilli on the surfac... OMIM:600903
Chikungunya
Knee pain, Stiff interphalangeal joints, Joint stiffness, Erythema nodosum, Periostitis, Facial e... ORPHA:324625
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Bronchi... OMIM:150550
Multiple Epiphyseal Dysplasia Type 1
Genu varum, Finger joint hypermobility, Knee joint hypermobility, Joint stiffness, Osteoarthritis... ORPHA:93308
Lymphoproliferative Syndrome 2
Pancytopenia, Recurrent pneumonia, Hepatosplenomegaly, Uveitis, Hemophagocytosis, Splenomegaly, D... OMIM:615122
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Recurrent skin infections, Erythema nodosum, Hemophagocytosis, Colitis, Splenomegal... OMIM:300635
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Autoimmunity, Leukocytosis, Pneumonia, Hypothyroidi... ORPHA:39041
Epiphyseal Dysplasia, Multiple, 3
Osteoarthritis, Limited knee extension, Abnormal hip joint morphology, Limited elbow extension, D... OMIM:600969
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Joint laxity, Thrombocytopenia, Osteoporosis OMIM:614727
Autoinflammation With Arthritis And Dyskeratosis
Punctate keratitis, Hypereosinophilia, Increased circulating IgG level, Uveitis, Polyarticular ar... OMIM:617388
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Hepatospleno... ORPHA:35078
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Q Fever
Rheumatoid factor positive, Antimitochondrial antibody positivity, Maculopapular exanthema, Anemi... ORPHA:781
Pediatric Systemic Lupus Erythematosus
Decreased serum complement C4, Malar rash, Ascites, Lymphopenia, Thrombocytopenia, Skin rash, Leu... ORPHA:93552
Thymic Aplasia
Sinusitis, T lymphocytopenia, Autoimmunity, Pneumonia, Hypothyroidism, Chronic oral candidiasis, ... ORPHA:83471
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Recurrent pneumonia, Hepatosplenomegaly, Reduced delayed hypersensitivity, Bronchiecta... OMIM:242700
Popliteal Cyst
Joint swelling, Abnormality of the knee OMIM:175750
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Anemia, Ascites, Thrombocytopenia, Chronic mucocutaneous candidiasis, Cough, Jaundi... ORPHA:79124
Congenital Bile Acid Synthesis Defect Type 1
Splenomegaly, Hepatomegaly, Osteoporosis, Jaundice, Biliary tract abnormality, Cirrhosis, Neonata... ORPHA:79301
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Leukemia, Osteopenia, Recurrent skin infections, Pneumonia, Periodonti... ORPHA:486
Blau Syndrome
Iridocyclitis, Anemia, Keratitis, Abnormal inflammatory response, Skin rash, Polyarticular arthri... ORPHA:90340
Coronary Artery Disease, Autosomal Dominant 2
Gout, Osteoporosis OMIM:610947
Hereditary Xanthinuria
Rheumatoid arthritis, Gout, Arthropathy ORPHA:3467
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Crohn's disease, Hepatosplenomegaly, Acute pancreatitis, Lymphadenitis, Rheu... OMIM:618935
Beta-Thalassemia Intermedia
Hypothyroidism, Osteoporosis, Persistence of hemoglobin F, Cholelithiasis, Jaundice, Erythroid hy... ORPHA:231222
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, T lymphocytopenia, Pneumonia, Chronic bronchitis, Increased circulating IgM level, Dec... OMIM:242860
Immunodeficiency 11B With Atopic Dermatitis
Asthma, Eosinophilia, Atopic dermatitis, Pneumonia OMIM:617638
Thrombocytopenia 1
Increased circulating IgA level, Intermittent thrombocytopenia, Increased circulating IgE level, ... OMIM:313900
Vertical Talus, Congenital
Arthritis OMIM:192950
Sarcoidosis
Hypothyroidism, Uveitis, Increased T cell count, Maculopapular exanthema, Anemia, Bone cyst, Thro... ORPHA:797
Majeed Syndrome
Leukocytosis, Flexion contracture, Congenital hypoplastic anemia, Increased bone mineral density,... ORPHA:77297
Refractory Celiac Disease
Microcytic anemia, Normocytic anemia, Autoimmune antibody positivity, Osteoporosis, Abnormal sple... ORPHA:398063
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis OMIM:619248
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating antibody level, Thrombocytopenia, Lymphadenopathy OMIM:618048
Aspergillosis
Hepatitis, Keratitis, Hypersensitivity pneumonitis, Infectious encephalitis, Cough, Osteomyelitis... ORPHA:1163
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Netherton Syndrome
Decreased circulating IgG level, Hypereosinophilia, Increased circulating IgE level OMIM:256500
Alpha-Mannosidosis
Craniofacial hyperostosis, Avascular necrosis, Splenomegaly, Hepatomegaly, Recurrent respiratory ... ORPHA:61
Osteosarcoma
Joint swelling, Osteolysis, Pathologic fracture ORPHA:668
Adult Idiopathic Neutropenia
Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Joint hyperflexibility, Osteoporosis, Wormian bones ORPHA:2787
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Ede... OMIM:603552
Autosomal Dominant Dopa-Responsive Dystonia
Rheumatoid arthritis, Hypothyroidism, Progressive flexion contractures ORPHA:98808
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, T lymphocytopenia, Craniosynostosis, Hypereosinophilia, Decrease... ORPHA:508533
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myeloid leukemia, Aplastic anemia, Monocyto... OMIM:614172
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Hip Dysplasia, Beukes Type
Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormal bone ossifica... ORPHA:2114
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, Decreased circulatin... OMIM:616576
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmunity, Hypothyroidism, Autoimmune hemolytic anemia, Iron deficiency anemia, Membranous nep... ORPHA:37042
Spondylosis, Cervical
Osteoarthritis OMIM:184300
Aregenerative Anemia
Pancytopenia, Bone marrow hypocellularity, Abnormality of interleukin secretion, Decreased propor... ORPHA:101096
Pfapa Syndrome
Infectious encephalitis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Recurrent pharyngitis, Arth... ORPHA:42642
Monosomy 22
Hepatosplenomegaly, Contractures of the large joints, Seborrheic dermatitis, Aplasia of the thymu... ORPHA:96123
Albers-Schönberg Osteopetrosis
Recurrent fractures, Avascular necrosis, Osteoarthritis, Joint dislocation, Abnormal leukocyte mo... ORPHA:53
Brucellosis
Rheumatoid factor positive, Sacroiliac arthritis, Arteritis, Anemia, Epididymitis, Liver abscess,... ORPHA:1304
Insulin Autoimmune Syndrome
Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus, Arthralgia/arthritis,... ORPHA:411593
Immunodeficiency 23
Eosinophilia, Increased circulating IgG level, Increased circulating IgM level, Abscess, Neutrope... OMIM:615816
Hemochromatosis, Type 3
Neutropenia, Anemia, Cirrhosis, Lymphopenia, Arthritis OMIM:604250
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615269
Moderate Hemophilia A
Synovitis, Arthropathy, Joint hemorrhage, Hip contracture, Joint swelling, Limitation of joint mo... ORPHA:169805
Boutonneuse Fever
Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Maculopapular exant... ORPHA:83313
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Generalized osteoporosis, Autoimmune hemolytic anemia, Hepatitis, Inflammatory abnormality of the... ORPHA:391487
Eosinophilic Fasciitis
Eosinophilia, Myositis, Abnormal eosinophil morphology, Muscular edema, Fasciitis, Edema, Arthritis ORPHA:3165
Systemic Sclerosis
Anti-topoisomerase I antibody positivity, Flexion contracture, Recurrent skin infections, Hypohid... ORPHA:90291
Immunodeficiency 32B
Sinusitis, Pneumonia, Splenomegaly, Bronchiectasis, Recurrent respiratory infections OMIM:226990
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615270
Subacute Inflammatory Demyelinating Polyneuropathy
Limitation of movement at ankles, Increased circulating IgG level, Leukocytosis, Limited elbow fl... ORPHA:206594
Immunodeficiency 12
Delayed skeletal maturation, Osteoporosis OMIM:615468
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Recurrent skin infections, Splenomegaly, Hepatomegaly, Anemia, ... OMIM:612840
Sézary Syndrome
Abnormal lymphocyte morphology, Abnormal immunoglobulin level, Splenomegaly, Abnormal pleura morp... ORPHA:3162
Niemann-Pick Disease, Type A
Microcytic anemia, Osteoporosis, Splenomegaly, Hepatomegaly, Recurrent respiratory infections, Bo... OMIM:257200
Fusariosis
Maculopapular exanthema, Productive cough, Fasciitis, Keratitis, Lymphopenia, Hypersensitivity pn... ORPHA:228119
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating antibody level, Chronic bronchitis OMIM:614069
Autoimmune Hemolytic Anemia, Cold Type
Autoimmunity, Splenomegaly, Dyspnea, Abnormal leukocyte morphology, Hemolytic anemia ORPHA:228312
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis ORPHA:93283
Patterson Pseudoleprechaunism Syndrome
Irregular acetabular roof, Marked delay in bone age, Talipes valgus, Flat acetabular roof, Joint ... OMIM:169170
Hyper-Igd Syndrome
Hepatosplenomegaly, Leukocytosis, Lymphadenitis, Increased circulating IgA level, Neutrophilia, S... OMIM:260920
Congenital Disorder Of Glycosylation, Type Iir
Hepatic steatosis, Hepatomegaly, Jaundice, Decreased circulating antibody level, Decreased propor... OMIM:301045
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Leukopenia, Bone marrow hypocellularity, Avascular necrosis, Osteoporosis, Pulmonar... OMIM:613989
Ataxia-Telangiectasia
Decreased circulating IgG level, T lymphocytopenia, Female hypogonadism, Leukemia, Defective B ce... OMIM:208900
Avascular Necrosis Of Femoral Head, Primary, 1
Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis OMIM:608805
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Hypoplastic anemia, Spl... ORPHA:2585
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Myositis, Arthritis, Increased inflammatory response, Acne, Increased circulatin... ORPHA:69126
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Increased c... ORPHA:507
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Bone Marrow Failure Syndrome 4
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level, Eczema, Anemia, Re... OMIM:618116
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Pneumocystosis
Nonproductive cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Abnormal neut... ORPHA:723
Prieto Syndrome
Cryptorchidism, Patellar dislocation, Osteoporosis, Patellar subluxation OMIM:309610
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Recurrent otitis media, Pneumonia, Bronchiolitis, Periodontitis... OMIM:266265
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Hypocomplementemic Urticarial Vasculitis
Autoimmunity, Uveitis, Episcleritis, Ascites, Conjunctivitis, Skin rash, Emphysema, Joint disloca... ORPHA:36412
Familial Cold Autoinflammatory Syndrome 1
Uveitis, Leukocytosis, Conjunctivitis, Arthritis, Skin rash OMIM:120100
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:86893
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Cryptorchidism, Osteoporosis, Patellar subluxation ORPHA:2958
Melioidosis
Pneumonia, Lung abscess, Cutaneous abscess, Parotitis, Osteoarthritis, Prostatitis, Foot osteomye... ORPHA:31202
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Decreased circulating IgG level, Colitis, Inflammation of the large intestine, Neutropenia, Eczem... OMIM:608809
Roifman Syndrome
Eosinophilia, Recurrent otitis media, Recurrent pneumonia, Hepatosplenomegaly, Delayed proximal f... ORPHA:353298
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells OMIM:615758
Immunodeficiency 46
Intermittent thrombocytopenia, Decreased circulating antibody level, Neutropenia, Anemia, Recurre... OMIM:616740
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Eczema, Lymphadenopathy, Edema, Skin ... ORPHA:2584
Chondroectodermal Dysplasia With Night Blindness
Fractures of the long bones, Osteopenia, Osteoporosis, Abnormal patella morphology, Abnormality o... ORPHA:319195
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Contractures of the large joints, Osteoporosis OMIM:608278
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Interstitial pneumonitis, Osteoporosis, Thrombocytopenia, Anemia, Pu... OMIM:127550
Blau Syndrome
Uveitis, Iritis, Erythema nodosum, Cystoid macular edema, Eczema, Synovitis, Flexion contracture ... OMIM:186580
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormality of the peritoneum ORPHA:545
Progressive Multifocal Leukoencephalopathy
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells ORPHA:217260
Hemochromatosis, Type 1
Splenomegaly, Pleural effusion, Osteoporosis, Testicular atrophy, Hepatomegaly, Arthropathy, Asci... OMIM:235200
Cinca Syndrome
Leukocytosis, Uveitis, Inflammatory abnormality of the eye, Delayed closure of the anterior fonta... ORPHA:1451
Idiopathic Non-Lupus Full-House Nephropathy
Glomerulonephritis, Synovitis, Serositis, Arthritis, Skin rash ORPHA:567544
Chronic Beryllium Disease
Abnormal respiratory system physiology, Hypersensitivity pneumonitis, Reticulonodular pattern on ... ORPHA:133
Congenital Pseudoarthrosis Of The Clavicle
Osteoarthritis ORPHA:66630
Reactive Arthritis
Joint stiffness, Abnormal pleura morphology, Conjunctivitis, Recurrent aphthous stomatitis, Infla... ORPHA:29207
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia, Recurrent otitis media, Recurrent skin infections, Joint hypermobility, Eczema, Bro... OMIM:618282
Mastocytosis
Chronic leukemia, Mastocytosis, Recurrent fractures, Angioedema, Asthma, Splenomegaly, Osteoporos... ORPHA:98292
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Bone marrow hypocellularity, Monocytosis, Asthma, Acute myeloid leukemia, Systemic lu... OMIM:616871
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Iritis, Pleural effusion, Jaundice, Rheumatoid arthritis, Granulomatous coronary arteritis, Peric... OMIM:108050
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia, Craniosynostosis, Osteopenia, Recurrent fractures, Cough, Eczema, Osteomyelitis, At... ORPHA:2314
Alkaptonuria
Joint stiffness, Prostatitis, Osteoarthritis, Joint dislocation, Reduced bone mineral density, Jo... ORPHA:56
Whim Syndrome
Sinusitis, Recurrent pneumonia, Recurrent upper respiratory tract infections, Pneumonia, Lymphade... ORPHA:51636
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Decreased eosinophil count, Peritonitis, Periodontitis, Thr... ORPHA:2686
Graft Versus Host Disease
Stiff interphalangeal joints, Hepatosplenomegaly, Pneumonia, Gastrointestinal inflammation, Hemop... ORPHA:39812
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Osteoarthritis, Osteoporosis, Abnormal joint morphology, Genu valgum,... ORPHA:93351
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Pancytopenia, Osteopenia, Bone marrow hypocellularity, Reticular pattern on pulmonary HRCT, Crack... OMIM:614742
Flynn-Aird Syndrome
Increased bone density with cystic changes, Osteoporosis, Increased bone mineral density, Joint s... OMIM:136300
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating total IgM, Osteopenia, Chronic oral candidiasis, Decreased circulating tota... ORPHA:221139
Systemic Lupus Erythematosus, Susceptibility To, 6
Malar rash, Arthritis, Pericarditis OMIM:609939
Cerebrooculofacioskeletal Syndrome 1
Elbow flexion contracture, Osteoporosis, Knee flexion contracture, Arthrogryposis multiplex conge... OMIM:214150
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Propionic Acidemia
Pancytopenia, Tachypnea, Osteoporosis, Hepatomegaly, Neutropenia, Anemia, Eczema, Pancreatitis, D... OMIM:606054
Anti-Glomerular Basement Membrane Disease
Autoimmunity, Cough, Anemia, Respiratory insufficiency, Arthritis ORPHA:375
Dominant Beta-Thalassemia
Hypothyroidism, Decreased mean corpuscular hemoglobin concentration, Chronic hepatitis, Anisocyto... ORPHA:231226
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Immunodeficiency 55
Neutropenia, Eczema, Recurrent skin infections, Lymphadenopathy OMIM:617827
Pseudoachondroplasia
Genu varum, Wind-swept deformity of the knees, Increased laxity of fingers, Joint stiffness, Knee... ORPHA:750
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Sacroiliac arthritis, Inflammation of the large intestine, Oligoarthritis, Ps... OMIM:106300
Rigid Spine Syndrome
Pneumonia, Abnormality on pulmonary function testing, Respiratory insufficiency, Hip contracture,... ORPHA:97244
Acquired Partial Lipodystrophy
Decreased serum complement C3, Autoimmunity, Lymphocytosis, Hepatic steatosis ORPHA:79087
Mitochondrial Complex I Deficiency, Nuclear Type 11
Macrovesicular hepatic steatosis, Osteoporosis, Hepatomegaly OMIM:618234
Paget Disease Of Bone 6
Osteoarthritis, Recurrent fractures OMIM:616833
Wilson Disease
Osteoarthritis, Osteoporosis, Hepatomegaly, Joint hypermobility, Osteomalacia, Atypical or prolon... OMIM:277900
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, Myeloproliferative disorder... ORPHA:3226
Osteoporosis
Osteoporosis OMIM:166710
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Melorheostosis
Ectopic ossification in muscle tissue, Joint stiffness, Increased bone mineral density, Arthritis ORPHA:2485
Staphylococcal Necrotizing Pneumonia
Nonproductive cough, Pulmonary pneumatocele, Leukocytosis, Leukopenia, Hypoxemia, Pneumonia, Neut... ORPHA:36238
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Restrictive ventilatory defect, Tachypnea, Pulmonary hemorrhage, Cough, Dyspnea, Crescentic glome... OMIM:616414
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Recurrent otitis media, Hashimoto thyroiditis, Anemia, Lymphopenia, Skin rash, Leuk... OMIM:615688
Good Syndrome
Sinusitis, Recurrent skin infections, Decreased circulating antibody level, Cough, Dyspnea, Abnor... ORPHA:169105
Rothmund-Thomson Syndrome, Type 1
Recurrent otitis media, Hypothyroidism, Osteoporosis, Premature ovarian insufficiency, Delayed sk... OMIM:618625
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Progressive Osseous Heteroplasia
Ectopic ossification in muscle tissue, Osteoarthritis, Limitation of joint mobility ORPHA:2762
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Joint laxity, Osteoporosis OMIM:616033
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Rectal abscess, Agammaglobulinemia, Decreased circul... OMIM:601495
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmunity, Leukocytosis, Agammaglobulinemia, Thrombocytosis, Interface hepatitis, Autoimmune h... OMIM:243150
Immunodeficiency 66
Defective T cell proliferation OMIM:618847
Ehlers-Danlos Syndrome, Classic-Like, 2
Shoulder dislocation, Cryptorchidism, Osteoarthritis, Osteoporosis, Knee dislocation, Hip disloca... OMIM:618000
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Premature osteoarthritis, Osteopenia, Joint subluxation, Joint laxity, Increased susceptibility t... OMIM:130060
Beta-Thalassemia Major
Hypothyroidism, Decreased mean corpuscular hemoglobin concentration, Osteoporosis, Anisopoikilocy... ORPHA:231214
Isolated Glycerol Kinase Deficiency
Cryptorchidism, Osteoporosis ORPHA:408
Griscelli Syndrome
Leukopenia, Bone marrow hypocellularity, Splenomegaly, Decreased circulating antibody level, Jaun... ORPHA:381
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Eosinophilopenia
Autoimmunity, Allergic rhinitis, Decreased eosinophil count OMIM:131430
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Reduced n... ORPHA:540
Sydenham Chorea
Septic arthritis, Endocarditis ORPHA:306731
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Decreased T cell activation, Leukocytosis, Increased circulating IgG level, T... OMIM:618213
Oculocerebrorenal Syndrome Of Lowe
Cryptorchidism, Osteomalacia, Anemia, Patellar dislocation, Hyperaldosteronism, Genu valgum, Thro... ORPHA:534
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Intestinal lymphangiectasia, Osteoporosis, Pulmonary lymphangiectasia, Lymphedema, Camptodactyly,... OMIM:616006
Immunodeficiency 54
Adrenal insufficiency, Adrenocorticotropic hormone excess, Splenomegaly, Hepatomegaly, Lymphadeno... OMIM:609981
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Leukocytosis, Central hypothyroidism, Cervical lymphadenopathy, Exertional dy... ORPHA:514
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Splenomegaly, Cough, Hepatomegaly, Osteolysis, Lymphadenopathy, Bone... ORPHA:391
Dysplasia Epiphysealis Hemimelica
Genu varum, Joint stiffness, Recurrent fractures, Osteoarthritis, Tarsal synostosis, Genu valgum ORPHA:1822
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Craniofacial osteosclerosis, Acne, Inflammation of the large intestine, Anemia, Osteomyelitis, Ab... ORPHA:324964
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Osteoporosis OMIM:300604
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Cryptorchidism, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Hyp... OMIM:612541
Hypergonadotropic Hypogonadism-Cataract Syndrome
Recurrent fractures, Osteoporosis, Secondary growth hormone deficiency, Reduced bone mineral dens... ORPHA:2410
Diffuse Alveolar Hemorrhage
Decreased serum complement C4, Autoimmunity, Respiratory failure requiring assisted ventilation, ... ORPHA:90060
Urban-Rogers-Meyer Syndrome
Recurrent fractures, Cryptorchidism, Osteoporosis, Flexion contracture of toe, Camptodactyly of f... ORPHA:3409
Igg4-Related Submandibular Gland Disease
Abnormality of the submandibular glands, Eosinophilia, Autoimmunity, Abnormal salivary gland morp... ORPHA:449432
Osteogenesis Imperfecta, Type Xii
Generalized osteoporosis, Wormian bones, Osteoporosis OMIM:613849
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphedema, Lymphopenia, Decreased circulating antibody level ORPHA:1116
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615271
Familial Afibrinogenemia
Joint swelling, Epistaxis ORPHA:98880
Hyaline Fibromatosis Syndrome
Osteolysis, Osteopenia, Osteoporosis, Progressive flexion contractures OMIM:228600
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Hepatomegaly, Splenomegaly, Lymphopenia OMIM:605309
Bone Marrow Failure Syndrome 6
Hypothyroidism, Osteopenia, Bone marrow hypocellularity, Neutropenia, Anemia, Recurrent sinusitis... OMIM:618849
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Decreased circulating total IgM, Intestinal lymphangiectasia, De... ORPHA:90362
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Leukopenia, Bone marrow hypocellularity, Cryptorchidism, Osteoporosis, Pulmonary fi... OMIM:613990
Simple Cryoglobulinemia
Monoclonal elevation of IgG, Viral hepatitis, Monoclonal immunoglobulin M proteinemia, Rheumatoid... ORPHA:91139
Hemophilia A
Osteoarthritis, Joint hemorrhage OMIM:306700
Catastrophic Antiphospholipid Syndrome