Gene: Zap70 MGI:99613

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

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

Human diseases associated with Zap70 (3 diseases)
Human diseases predicted to be associated with Zap70 (1258 diseases)

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

Disease	Matching phenotypes	Source
Immunodeficiency 48	Absence of CD8-positive T cells, Panhypogammaglobulinemia, Splenomegaly, Hepatomegaly	OMIM:269840
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Recurrent bacterial skin infections, Abnormal lymph node morphology, Chronic oral ...	ORPHA:911
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Increased CD4:CD8 ratio, Minimal change glomerulonephritis, Autoimmunity, Impaired lymphocyte tra...	OMIM:617006

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

Disease	Matching phenotypes	Source
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Reticular Dysgenesis	Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct...	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	Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Chondrocalcinosis 1	Chondrocalcinosis, Osteoarthritis	OMIM:600668
Chondrocalcinosis 2	Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy	OMIM:118600
Osteoarthritis Susceptibility 2	Osteoarthritis, Heberden's node	OMIM:140600
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
Glycoprotein Storage Disease	Gout	OMIM:232900
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
Immunodeficiency 79	Decreased proportion of CD4-positive T cells	OMIM:619238
Immunodeficiency 24	Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased ci...	OMIM:615897
Immunodeficiency 18	Defective T cell proliferation, Lymphopenia, 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
Osteoarthritis Susceptibility 3	Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal interphalangeal j...	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, Decreased circulating IgG level, Decreased proporti...	OMIM:312863
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG level	OMIM:233650
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B...	OMIM:618204
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased...	OMIM:616452
Autoimmune Lymphoproliferative Syndrome, Type Iii	Recurrent sinusitis, Generalized lymphadenopathy, Hepatosplenomegaly, Hepatomegaly, Antinuclear a...	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	Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly	OMIM:183350
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Tuftsin Deficiency	Abnormality of the spleen	OMIM:191150
Selective Igm Deficiency	Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Decreased pro...	ORPHA:331235
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell...	OMIM:212050
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve...	OMIM:606843
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent aphthous stomatitis, Chronic oral candidiasis, Juvenile rheumatoid arthritis, Skin rash...	ORPHA:275
Slipped Femoral Capital Epiphyses	Hip osteoarthritis	OMIM:182260
Immunodeficiency 105	Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ...	OMIM:619924
Immunodeficiency 48	Absence of CD8-positive T cells, Panhypogammaglobulinemia, Splenomegaly, Hepatomegaly	OMIM:269840
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Increased proportion of memory T cells, Increased circulating IgG level, ...	OMIM:618982
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Decreased circulating total IgM, Increased circulating interleukin 6 concentration, Cutaneous abs...	OMIM:618944
Hereditary Progressive Mucinous Histiocytosis	Lymphadenopathy, Mucinous histiocytosis	ORPHA:158025
Macrophage Activation Syndrome	Abnormal natural killer cell count, Anemia, Neutropenia, Increased circulating interleukin 6 conc...	ORPHA:158061
Immunodeficiency 95	Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level	OMIM:619773
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Abnormality of the...	OMIM:611926
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Immunodeficiency 25	Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop...	OMIM:610163
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Synovitis, Osteolysis of patellae, Osteolysis of scaphoids, Enlarged joints	ORPHA:50809
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Histiocytosis	OMIM:235900
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Gamma-Heavy Chain Disease	Anemia, Rheumatoid arthritis, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Autoimmune he...	ORPHA:100026
Farber Lipogranulomatosis	Osteolytic defects of the phalanges of the hand, Respiratory insufficiency, Osteolysis involving ...	OMIM:228000
Immunodeficiency 64 With Lymphoproliferation	Bronchiectasis, Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Cervical lympha...	OMIM:618534
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Symmetric polyarthritis, Synovitis, Limitation of joint mobility, Rheumatoid factor positive, Pro...	ORPHA:85435
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Reduced antigen-specific ...	OMIM:617241
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae	OMIM:609655
Developmental Dysplasia Of The Hip 2	Arthritis, Hip osteoarthritis	OMIM:615612
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	T lymphocytopenia, Increased proportion of transitional B cells, Bronchiectasis, Decreased circul...	OMIM:615513
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Follicular hyperplasia, Mediastinal lymphadenopathy	ORPHA:60026
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Plasmacytosis, Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia	OMIM:247800
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Anti-thyroid peroxidase antibody positivity, T lymphocytopenia, Inflammatory abnormality of the s...	ORPHA:277
Autoimmune Lymphoproliferative Syndrome, Type Iia	Antiphospholipid antibody positivity, Coombs-positive hemolytic anemia, Eosinophilia, Hepatomegal...	OMIM:603909
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Systemic-Onset Juvenile Idiopathic Arthritis	Juvenile rheumatoid arthritis, Skin rash, Autoimmunity, Pericarditis, Pleural effusion, Lymphaden...	ORPHA:85414
Thymoma	Rheumatoid arthritis, Anti-acetylcholine receptor antibody positivity, Pure red cell aplasia, Dec...	ORPHA:99867
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618806
Immunodeficiency 86	Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level	OMIM:619549
Immunodeficiency, Common Variable, 11	Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased...	OMIM:615767
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Spondyloenchondrodysplasia With Immune Dysregulation	Hypothyroidism, T lymphocytopenia, Neutropenia, Juvenile rheumatoid arthritis, Rheumatoid arthrit...	OMIM:607944
Adult-Onset Still Disease	Hepatitis, Skin rash, Arthritis, Neutrophilia, Pleuritis, Recurrent pharyngitis, Generalized lymp...	ORPHA:829
Mu-Heavy Chain Disease	Anemia, Increased circulating antibody level, Abnormal B cell count, Osteolysis, Osteoporosis, Ly...	ORPHA:100024
Immune Deficiency, Familial Variable	Decreased circulating IgA level, Decreased circulating IgG level	OMIM:146830
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Angel-Shaped Phalangoepiphyseal Dysplasia	Premature osteoarthritis, Delayed ossification of carpal bones, Hyperextensibility of the finger ...	OMIM:105835
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Bronchiectasis, Viral hepatitis, Psoriasiform dermatitis, Pneumonia, Atopic dermatitis, Decreased...	ORPHA:183675
Severe Combined Immunodeficiency, X-Linked	Hypoplasia of the thymus, Decreased circulating total IgM, T lymphocytopenia, Reduced natural kil...	OMIM:300400
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Caspase 8 Deficiency	Decreased CD4:CD8 ratio, Decreased circulating total IgM, Decreased T cell activation, Asthma, Ec...	OMIM:607271
Autoimmune Polyendocrinopathy Type 4	Biliary cirrhosis, Keratoconjunctivitis sicca, Primary adrenal insufficiency, Graves disease, Apl...	ORPHA:227990
Kienbock Disease	Osteochondritis dissecans, Osteoarthritis, Abnormality of the wrist, Limitation of joint mobility	ORPHA:97332
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Increased circulati...	ORPHA:169154
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Decreased circulating total IgM, Splenomegaly	OMIM:606445
Autoimmune Polyendocrinopathy Type 3	Biliary cirrhosis, Keratoconjunctivitis sicca, Primary adrenal insufficiency, Graves disease, Apl...	ORPHA:227982
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Skin rash, Neutrophilia, Lymphadenopathy, Joint swelling, Leukocytosis, Panniculitis, Increased c...	OMIM:617099
Immunodeficiency 51	Recurrent cutaneous fungal infections, Chronic oral candidiasis, Recurrent respiratory infections...	OMIM:613953
Pyoderma Gangrenosum	Myeloid leukemia, Rheumatoid arthritis, Increased circulating antibody level, Myositis, Inflammat...	ORPHA:48104
Majeed Syndrome	Flexion contracture, Osteomyelitis, Inflammatory abnormality of the skin, Skin rash, Erythroid hy...	OMIM:609628
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Absen...	OMIM:619846
Immunodeficiency 11	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo...	OMIM:615206
Juvenile Idiopathic Arthritis	Abnormal pleura morphology, Joint dislocation, Pericardial effusion, Skin rash, Arthritis, Autoim...	ORPHA:92
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Immunodeficiency 19	Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell morphology	OMIM:615617
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Eczema, Hepatosplenomegaly, Eosin...	OMIM:619802
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Conjunctivitis, Panhypogammaglobulinemia, Purulent rhinitis, T lymphocytopenia, B lymphocytopenia...	OMIM:601457
Felty Syndrome	Neutropenia, Splenomegaly, Rheumatoid arthritis	OMIM:134750
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased T cell activation, Bronchiectasis, Recurrent respiratory infec...	OMIM:300853
Immunodeficiency 75 With Lymphoproliferation	Lymphadenopathy, Follicular hyperplasia, Decreased proportion of class-switched memory B cells, H...	OMIM:619126
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, B lymphocy...	OMIM:618987
Mixed Connective Tissue Disease	Keratoconjunctivitis sicca, Pericarditis, Osteolysis, Myositis, Gastritis, Hepatomegaly, Splenome...	ORPHA:809
Kimura Disease	Increased circulating IgE level, Eosinophilia	ORPHA:482
Immunodeficiency, Common Variable, 1	Conjunctivitis, Decreased circulating total IgM, Bronchiectasis, B lymphocytopenia, Neutropenia i...	OMIM:607594
Autoimmune Lymphoproliferative Syndrome	Antiphospholipid antibody positivity, Coombs-positive hemolytic anemia, Eosinophilia, Hepatomegal...	OMIM:601859
Immunodeficiency 50	Neutropenia, Lymphopenia, Decreased circulating antibody level	OMIM:300988
Overlap Myositis	Pulmonary arterial hypertension, Leukopenia, Abnormal pulmonary interstitial morphology, Subluxat...	ORPHA:206572
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,...	OMIM:619824
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Bronchiectasis, Decreased circulating antibody level...	OMIM:617514
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Oligoarthritis, Anemia, Flexion contracture, Synovial hypertrophy, Hip osteoarthritis, Enthesitis...	ORPHA:85408
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center, Abnormality of the liver	OMIM:235550
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis	OMIM:216950
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Decreased circulating antibody level, Hepatosplenomegaly, Lymp...	OMIM:618261
Immunodeficiency 104	T lymphocytopenia, Eczema, Chronic mucocutaneous candidiasis, Recurrent otitis media, Lymphadenop...	OMIM:608971
Osteochondrosis Of The Tarsal Bone	Tarsal sclerosis, Arthritis, Osteochondritis dissecans, Tarsal stippling, Chondritis, Abnormal ta...	ORPHA:563991
Immunodeficiency 62	Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir...	OMIM:618459
Oligoarticular Juvenile Idiopathic Arthritis	Oligoarthritis, Rheumatoid arthritis, Autoimmunity, Uveitis, Joint hypermobility, Increased circu...	ORPHA:85410
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Immunodeficiency 44	Abnormal circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM,...	OMIM:616636
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Subcorneal Pustular Dermatosis	Hypothyroidism, Hyperthyroidism, Rheumatoid arthritis, Increased circulating antibody level, Auto...	ORPHA:48377
Myasthenia Gravis	Anti-muscle-specific tyrosine kinase antibody, Hyperthyroidism, Hemolytic anemia, Rheumatoid arth...	ORPHA:589
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Bronchiectasis, Recurrent lower respiratory tract infections, Neutropenia in presence of anti-neu...	OMIM:619220
Tenosynovial Giant Cell Tumor	Abnormality of the knee, Chondrocalcinosis, Synovial hypertrophy, Abnormality of the elbow, Lymph...	ORPHA:66627
Candidiasis, Familial, 1	Cutaneous anergy	OMIM:114580
Secondary Non-Traumatic Avascular Necrosis	Avascular necrosis, Rheumatoid arthritis, Autoimmunity, Limitation of joint mobility, Systemic lu...	ORPHA:399180
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating total IgM, Absent circulating B cells, Decreased circulating IgA level, Aga...	OMIM:619707
Autoimmune Lymphoproliferative Syndrome	Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Glomerulonephritis, ...	ORPHA:3261
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ...	ORPHA:169079
Immunodeficiency 27A	Anemia, Enlarged mesenteric lymph node, Hepatosplenomegaly, Rheumatoid factor positive, Abnormal ...	OMIM:209950
Immunodeficiency 82 With Systemic Inflammation	T lymphocytopenia, Bronchiectasis, Gastritis, Colitis, Recurrent skin infections, Pneumonia, Sple...	OMIM:619381
Schnitzler Syndrome	Anemia, Increased bone mineral density, Skin rash, Arthritis, Lymphadenopathy, Leukocytosis, Incr...	ORPHA:37748
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t...	ORPHA:70593
Transcobalamin Deficiency	Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Pancytopenia,...	ORPHA:859
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Recurrent bacterial skin infections, Abnormal lymph node morphology, Chronic oral ...	ORPHA:911
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Osteomyelitis, Skin rash, Fused cervical vertebrae, Neutrophilia, Stomatitis, Respiratory distres...	OMIM:612852
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Autoimmunity, Recurrent otitis media, Autoimmune hemolytic anemia, Lymph...	OMIM:618495
Lymphoid Interstitial Pneumonia	Bronchiectasis, Keratoconjunctivitis sicca, Eczema, Multiple pulmonary cysts, Crackles, Hepatomeg...	ORPHA:79128
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to tetanus vaccine, Lymphopenia, ...	OMIM:615401
Palmoplantar Keratoderma, Epidermolytic	Increased circulating IgE level	OMIM:144200
Immunoglobulin A Deficiency 2	Decreased circulating IgA level, Abnormal lymphocyte morphology	OMIM:609529
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Decreased circulating total IgM, Absent circulating B cells, Decrease...	OMIM:613500
Immunodeficiency 67	Liver abscess, Increased circulating IgE level, Transient neutropenia	OMIM:607676
Panner Disease	Large elbow, Elbow pain, Limited elbow movement, Abnormality of upper limb joint, Joint swelling,...	ORPHA:97336
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Decreased c...	OMIM:616100
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Wrist flexion contracture, Congenital finger flexion contractures, Synovial hypertrophy, Arthropa...	OMIM:208250
Immunodeficiency 102	Hypothyroidism, Bronchiectasis, Recurrent sinusitis, Hepatomegaly, Decreased proportion of CD4-po...	OMIM:301082
Combined Immunodeficiency Due To Dock8 Deficiency	Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Wilson Disease	Anemia, Cirrhosis, Hepatitis, Arthritis, Jaundice, Hepatic steatosis, Thrombocytopenia, Joint swe...	ORPHA:905
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Anti-thyroid peroxidase antibody positivity, B lymphocytopenia, Skin ras...	OMIM:618048
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Decreased circulating total IgM, Complete or near-complete absen...	OMIM:613494
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Respiratory tract infection, Hemolytic anemia, Hepatitis, Autoimmunity, Recurrent otitis media, A...	ORPHA:444463
Immunodeficiency 11B With Atopic Dermatitis	Increased circulating IgE level, Decreased circulating total IgM, Eosinophilia	OMIM:617638
Immunodeficiency 85 And Autoimmunity	Reduced natural killer cell count, T lymphocytopenia, Decreased circulating total IgM, Lymphopeni...	OMIM:619510
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Decreased circulating total IgM, Neutropenia, Decreased circulating I...	OMIM:613502
Osteochondritis Dissecans	Abnormality of the knee, Decreased hip abduction, Limitation of joint mobility, Joint swelling, L...	ORPHA:2764
Immunodeficiency, Common Variable, 3	Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced isohemagglutini...	OMIM:613493
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, Bronchiectasis, Increased proportion of transitional B cells, B lymph...	OMIM:616005
Pachydermoperiostosis	Genu varum, Splenomegaly, Anemia, Osteomyelitis, Neoplasm of the lung, Avascular necrosis, Hyperh...	ORPHA:2796
Congenital Atransferrinemia	Arthritis	ORPHA:1195
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Rheumatoid Arthritis	Rheumatoid arthritis, Rheumatoid factor positive, Anti-citrullinated protein antibody positivity,...	OMIM:180300
Isolated Agammaglobulinemia	Anemia, Recurrent respiratory infections, Skin rash, Inflammatory abnormality of the eye, Arthrit...	ORPHA:229717
Ras-Associated Autoimmune Leukoproliferative Disorder	Splenomegaly, Hemolytic anemia, Increased circulating antibody level, Lymphocytosis, Autoimmunity...	OMIM:614470
Peripheral Dysostosis	Hip osteoarthritis	OMIM:170700
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Increased circulating antibody level, Acute monocytic leukemia, Thrombocytosis, Eosinophi...	OMIM:202700
Familial Calcium Pyrophosphate Deposition	Joint dislocation, Arthritis, Limitation of joint mobility, Joint swelling, Chondrocalcinosis, Os...	ORPHA:1416
Brachydactylous Dwarfism, Mseleni Type	Protrusio acetabuli, Hip osteoarthritis, Abnormality of the wrist, Limitation of joint mobility, ...	ORPHA:2619
Spondyloenchondrodysplasia	Hypothyroidism, Decreased response to growth hormone stimulation test, Lower limb pain, Juvenile ...	ORPHA:1855
Felty Syndrome	Pericarditis, Osteolysis, Bone marrow hypocellularity, Hepatomegaly, Thrombocytopenia, Splenomega...	ORPHA:47612
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 22 concentration, Reduced circulating interleukin 17A concentrati...	OMIM:619632
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	Reduced natural killer cell count, Decreased circulating total IgM, Cutaneous abscess, Lymphopeni...	OMIM:619752
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:52416
Immunodeficiency With Hyper-Igm, Type 2	Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c...	OMIM:605258
Cranio-Osteoarthropathy	Abnormality of the knee, Arthritis, Abnormal cortical bone morphology, Eczema, Joint swelling, Jo...	ORPHA:1525
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Abnormal pleura morphology, Arthritis, Lymphopenia, Limitation of joint mobility, Eosinophilia	ORPHA:2582
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Chronic bronchitis, T lymphocytopenia, Bronchiectasis, Impaired neutrophil chemotaxis, Recurrent ...	OMIM:618986
Immunodeficiency, Common Variable, 8, With Autoimmunity	Hypothyroidism, Bronchiectasis, Recurrent sinusitis, Generalized lymphadenopathy, Colitis, Thromb...	OMIM:614700
Farber Disease	Respiratory insufficiency, Abnormality of the knee, Flexion contracture, Anemia, Abnormality of t...	ORPHA:333
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell receptor excis...	OMIM:602450
Immunodeficiency 76	Lymphopenia, Splenomegaly, T lymphocytopenia, B lymphocytopenia	OMIM:619164
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Neutropenia, Decreased circulating total IgM	OMIM:610798
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Reduced natural killer cell count, Decreased circulating total IgM, Increased circulating IgG lev...	OMIM:243700
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive	Joint contracture of the hand, Bronchiectasis, Arthropathy, Hip dislocation, Eczema, Recurrent ot...	OMIM:618523
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig...	OMIM:608106
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG	OMIM:613495
Immunodeficiency 70	Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Decreas...	OMIM:618969
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Agammaglobulinemia, Panhypogammaglobulinemia, Neutropenia	OMIM:615214
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, Decreased circulating total IgM, B lymphocytopenia, Decreased circula...	OMIM:612692
Immunodeficiency, Common Variable, 14	Decreased circulating total IgM, Decreased proportion of class-switched memory B cells, Decreased...	OMIM:617765
Symptomatic Form Of Hemochromatosis Type 1	Hypothyroidism, Splenomegaly, Cirrhosis, Arthropathy, Stiff interphalangeal joints, Arthritis, He...	ORPHA:465508
X-Linked Lymphoproliferative Disease	T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Colit...	ORPHA:2442
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Leukopenia, Anemia, Increased circulating antibody level, Extramedullary hematopoiesis, Thrombocy...	OMIM:615285
Progressive Pseudorheumatoid Dysplasia	Camptodactyly of finger, Genu varum, Joint contracture of the hand, Arthropathy, Enlarged interph...	OMIM:208230
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Absent tonsils, Hepatomegaly, Decreased proportion of CD4-positive helper T cells, Pneumonia, Dec...	ORPHA:276
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Decreased lymphocyte proliferation in response to mitogen, Hepatitis, D...	ORPHA:169160
Immunodeficiency, Common Variable, 2	Conjunctivitis, Bronchiectasis, Recurrent bronchitis, Autoimmunity, Recurrent sinusitis, Recurren...	OMIM:240500
Severe Hemophilia A	Anemia, Synovitis, Limitation of joint mobility, Epistaxis, Limb joint contracture, Joint swellin...	ORPHA:169802
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Osteoarthritis, Hip osteoarthritis	OMIM:271600
Immunodeficiency 13	Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ...	OMIM:615518
Progressive Pseudorheumatoid Arthropathy Of Childhood	Wrist swelling, Genu varum, Abnormality of the knee, Genu valgum, Abnormality of hand joint mobil...	ORPHA:1159
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Septic arthritis, Megaloblastic anemia, Decreased circulating antibody level, Autoimmunity, Eczem...	OMIM:617780
Immunodeficiency 17	Chronic decreased cirulating IgG2, T lymphocytopenia, Chronic oral candidiasis, Abnormal B cell m...	OMIM:615607
Tularemia	Conjunctivitis, Anemia, Brain abscess, Erythema nodosum, Increased circulating antibody level, Sk...	ORPHA:3392
Intermittent Hydrarthrosis	Abnormality of the knee, Knee joint hypermobility, Chondrocalcinosis, Joint swelling	ORPHA:329967
Mueller-Weiss Syndrome	Limitation of movement at ankles, Sclerosis of foot bone, Arthritis, Chondritis, Joint subluxatio...	ORPHA:566943
Sinding-Larsen-Johansson Disease	Knee pain, Joint swelling, Painless fractures due to injury, Limitation of knee mobility, Osteoch...	ORPHA:97337
Spondyloepiphyseal Dysplasia Tarda	Knee pain, Limited elbow movement, Hip osteoarthritis, Increased bone mineral density, Synovitis,...	ORPHA:93284
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Increased CD4:CD8 ratio, Minimal change glomerulonephritis, Autoimmunity, Impaired lymphocyte tra...	OMIM:617006
Lymphoproliferative Syndrome, X-Linked, 1	Infectious encephalitis, Neutropenia, Fulminant hepatitis, Decreased circulating antibody level, ...	OMIM:308240
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Perianal abscess, Decrea...	OMIM:618108
Indolent Systemic Mastocytosis	Skin rash, Mastocytosis, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cells,...	ORPHA:98848
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	Recurrent fractures, Skin rash, Cutaneous abscess, Chronic mucocutaneous candidiasis, Joint hyper...	OMIM:147060
Combined Immunodeficiency Due To Partial Rag1 Deficiency	T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi...	ORPHA:231154
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating total IgM, B lymphocytopenia, Reduced natural killer cell activity, Neutrop...	OMIM:619281
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Anti-U1 ribonucleoprotein antibody positivity, Decreased proportion of marginal zone B cells, Coo...	OMIM:619375
Immunodeficiency 15B	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec...	OMIM:615592
Interstitial Granulomatous Dermatitis With Arthritis	Rheumatoid factor positive, Inflammatory abnormality of the skin, Rheumatoid arthritis	ORPHA:79099
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Panhypogammaglobulinemia, T lymphocytopenia, Abnormality of B cell physiology, Lymphopenia, Recur...	OMIM:600802
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Absent isohemagglutinin level, Recurrent bronchitis, Recurrent otitis...	OMIM:613501
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia...	OMIM:619313
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased lym...	ORPHA:331206
Hemophilia A	Joint swelling, Splenic rupture, Abnormality of the elbow, Joint hemorrhage	ORPHA:98878
Immunodeficiency With Hyper-Igm, Type 4	Osteomyelitis, Bronchiectasis, Autoimmune thrombocytopenia, Impaired Ig class switch recombinatio...	OMIM:608184
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly	OMIM:607624
Idiopathic Hypereosinophilic Syndrome	Eczema, Generalized lymphadenopathy, Hepatosplenomegaly, Pleural effusion, Eosinophilia, Erythrod...	ORPHA:3260
Immunodeficiency 92	Osteomyelitis, B lymphocytopenia, Lymphocytosis, Sclerosing cholangitis, Partial absence of speci...	OMIM:619652
Immunodeficiency 60 And Autoimmunity	Decreased circulating total IgM, Pancytopenia, Decreased circulating IgE, Decreased circulating I...	OMIM:618394
Osteochondrosis Of The Metatarsal Bone	Arthritis, Sclerosis of foot bone, Progressive joint destruction, Chondritis, Osteochondrosis, Jo...	ORPHA:564003
Osteoarthritis With Mild Chondrodysplasia	Knee osteoarthritis, Joint stiffness, Heberden's node, Hip osteoarthritis	OMIM:604864
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Immunodeficiency, Common Variable, 7	Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Decreased circulating tot...	OMIM:614699
Forsythe-Wakeling Syndrome	Thrombocytopenia, Delayed skeletal maturation, Osteoporosis	OMIM:613606
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Lower limb pain, Erythema nodosum, Arthritis, Skin rash, Lymphaden...	OMIM:611762
Igg4-Related Retroperitoneal Fibrosis	Pedal edema, Anti-thyroid peroxidase antibody positivity, Rheumatoid arthritis, Normocytic anemia...	ORPHA:49041
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Chronic bronchitis, Decreased circulating total IgM, B lymphocytopenia, Decreased circulating ant...	OMIM:614069
Peripheral Dysostosis	Joint stiffness, Osteoarthritis	ORPHA:1795
Eng-Strom Syndrome	Camptodactyly of finger, Arthritis	ORPHA:1937
Autoinflammation With Episodic Fever And Lymphadenopathy	Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis	OMIM:618852
Lymphoproliferative Syndrome 1	Leukopenia, Anemia, Decreased circulating antibody level, Pericardial effusion, Autoimmunity, Sto...	OMIM:613011
Ehlers-Danlos Syndrome, Hypermobility Type	Joint dislocation, Joint laxity, Osteoarthritis, Joint hypermobility	OMIM:130020
Sting-Associated Vasculopathy, Infantile-Onset	Cytoplasmic antineutrophil antibody positivity, Myositis, Antinuclear antibody positivity, Malar ...	OMIM:615934
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Osteoarthritis	ORPHA:435804
Hemochromatosis Type 4	Cirrhosis, Joint dislocation, Limitation of joint mobility, Hepatic steatosis, Joint swelling, Co...	ORPHA:139491
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia	OMIM:270300
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Hemolytic anemia, T lymphocytopenia, B lymphocytopenia, Decreased propor...	OMIM:606367
Sjogren Syndrome	Tubulointerstitial nephritis, Rheumatoid arthritis, Keratoconjunctivitis sicca, Autoimmunity, Xer...	OMIM:270150
Psoriasis 1, Susceptibility To	Arthritis, Psoriasiform dermatitis	OMIM:177900
Immunodeficiency 110 With Lymphoproliferation	Neutropenia, Lymphopenia	OMIM:614868
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an...	OMIM:616098
Aggressive Systemic Mastocytosis	Anemia, Neutropenia, Leukemia, Hypersplenism, Pathologic fracture, Hepatosplenomegaly, Pancytopen...	ORPHA:98850
Immunodeficiency 42	Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Immunodeficiency 32B	Abnormal circulating IgG level, Anemia, Monocytopenia, Bronchiectasis, Recurrent respiratory infe...	OMIM:226990
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Abnormal natural killer cell physiology, Decreased circulating antibody level, Hepatosple...	OMIM:613101
Immunodeficiency 81	Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ...	OMIM:619374
Immunodeficiency 32A	Granuloma, Lymphadenopathy, Lymphadenitis	OMIM:614893
Immunodeficiency With Hyper-Igm, Type 1	Sclerosing cholangitis, Hepatomegaly, Absence of lymph node germinal center, Thrombocytopenia, Im...	OMIM:308230
Mast Cell Sarcoma	Mastocytosis, Lymphadenopathy, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:66661
Agammaglobulinemia, X-Linked	Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ...	OMIM:300755
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Conjunctivitis, Arthritis	OMIM:617772
Systemic Lupus Erythematosus	Malar rash, Leukopenia, Antiphospholipid antibody positivity, Hemolytic anemia, Arthritis, Pleuri...	OMIM:152700
Immunodeficiency 68	Lymphadenitis, Septic arthritis, Abnormal natural killer cell count, T lymphocytopenia, B lymphoc...	OMIM:612260
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hypothyroidism, Anemia, Anti-glutamic acid decarboxylase antibody positivity, Hepatitis, Arthriti...	OMIM:304790
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level	OMIM:616873
Immunodeficiency By Defective Expression Of Mhc Class Ii	T lymphocytopenia, Sclerosing cholangitis, Decreased proportion of CD4-positive helper T cells, A...	ORPHA:572
Neutropenia, Severe Congenital, X-Linked	Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia	OMIM:300299
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Hypothyroidism, Desquamative interstitial pneumonitis, Decreased circulating antibody level, Neut...	OMIM:615952
Pgm3-Cdg	T lymphocytopenia, Bronchiectasis, Reduced antigen-specific T cell proliferation, Eczema, Bone ma...	ORPHA:443811
Ankylosing Vertebral Hyperostosis With Tylosis	Osteoarthritis	ORPHA:2206
T-Cell Immunodeficiency With Thymic Aplasia	T lymphocytopenia, Bronchiectasis, Pyoderma, Recurrent bronchopulmonary infections, Lymphopenia, ...	OMIM:242700
Proteasome-Associated Autoinflammatory Syndrome 3	Conjunctivitis, Anemia, Flexion contracture, Increased circulating antibody level, Skin rash, Art...	OMIM:617591
Multicentric Reticulohistiocytosis	Arthritis, Histiocytosis	ORPHA:139436
X-Linked Agammaglobulinemia	Conjunctivitis, Anemia, Osteomyelitis, Hepatitis, Skin rash, Arthritis, Autoimmunity, Abnormality...	ORPHA:47
Immunodeficiency 98 With Autoinflammation, X-Linked	Recurrent aphthous stomatitis, Decreased circulating IgG level, Chronic oral candidiasis, B lymph...	OMIM:301078
Sickle Cell Anemia	Avascular necrosis, Osteomyelitis, Hemolytic anemia, Hypoxemia, Reticulocytosis, Persistence of h...	ORPHA:232
Ceroid storage disease	Abnormality of the spleen	OMIM:214200
Bullous Impetigo	Septic arthritis, Recurrent bacterial skin infections, Pustule	ORPHA:36237
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Knee flexion contracture, Sterile abscess, Arthritis, Elbow flexion contracture, Pancytopenia, He...	OMIM:604416
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Idiopathic Chronic Eosinophilic Pneumonia	Hypereosinophilia, Asthma, Wheezing, Autoimmunity, Hypoxemia, Pleural effusion, Crackles, Nonprod...	ORPHA:2902
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Eosinophilia, Hepatomegaly, Pneumonia, Splenomegaly, Decreased...	OMIM:102700
Cinca Syndrome	Anemia, Lymphedema, Skin rash, Arthritis, Uveitis, Hepatosplenomegaly, Lymphadenopathy, Patellar ...	OMIM:607115
Chilblain Lupus	Malar rash, Chronic myelomonocytic leukemia, Inflammatory abnormality of the skin, Discoid lupus ...	ORPHA:90280
Igg4-Related Aortitis	Hypereosinophilia, Increased circulating IgG4 level, Increased circulating antibody level, Increa...	ORPHA:449400
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	Sterile abscess, Osteomyelitis, Chronic oral candidiasis, Bronchiectasis, Recurrent sinusitis, Ec...	OMIM:618282
Dracunculiasis	Flexion contracture, Skin rash, Arthritis, Limitation of joint mobility, Recurrent cutaneous absc...	ORPHA:231
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Wiskott-Aldrich Syndrome	Eczema, Recurrent sinusitis, Eosinophilia, Decreased proportion of CD4-positive helper T cells, T...	OMIM:301000
Sialidosis Type 2	Pedal edema, Flexion contracture, Hydrops fetalis, Osteoporosis, Dyspnea, Hepatomegaly, Ascites, ...	ORPHA:87876
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy, Dysgammaglobulinemia	ORPHA:158014
Generalized Eruptive Histiocytosis	Hypereosinophilia, Lymphadenopathy, Histiocytosis, Leukemia	ORPHA:157991
Gaucher Disease Type 1	Pedal edema, Pericardial effusion, Increased bone mineral density, Osteolysis, Delayed skeletal m...	ORPHA:77259
Mucopolysaccharidosis, Type Ix	Hyperextensibility at wrists, Finger joint hypermobility, Synovitis, Recurrent otitis media, Popl...	OMIM:601492
Immunodeficiency 22	Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased circulating IgA lev...	OMIM:615758
Achalasia, Familial Esophageal	Keratoconjunctivitis sicca, Xerostomia, Rheumatoid arthritis	OMIM:200400
Autosomal Agammaglobulinemia	Conjunctivitis, Osteomyelitis, Recurrent respiratory infections, Bronchiectasis, Hepatitis, Arthr...	ORPHA:33110
Erdheim-Chester Disease	Hyperhidrosis, Anemia, Abnormal pulmonary interstitial morphology, Osteomyelitis, Avascular necro...	ORPHA:35687
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Conjunctivitis, Septic arthritis, Panhypogammaglobulinemia, Decreased response to growth hormone ...	OMIM:307200
Purine Nucleoside Phosphorylase Deficiency	Decreased lymphocyte proliferation in response to mitogen, Neutropenia in presence of anti-neutro...	OMIM:613179
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating total IgM, B lymphocytopenia, Absent circulating B cells, Agammaglobulinemi...	OMIM:619705
Lymphangiectasia, Intestinal	Lymphopenia, Decreased circulating IgG level	OMIM:152800
Winchester Syndrome	Generalized osteoporosis, Carpal osteolysis, Osteolysis involving tarsal bones, Arthropathy	OMIM:277950
Reticular Dysgenesis	Leukopenia, Anemia, Decreased circulating antibody level, Aplasia/Hypoplasia of the thymus, Skin ...	ORPHA:33355
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the pancreas, Abnormality of the liver, Abnormalit...	ORPHA:543
Adult Idiopathic Neutropenia	Recurrent aphthous stomatitis, Monocytopenia, Lymphopenia, Abnormal neutrophil count, Increased c...	ORPHA:2688
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent aphthous stomatitis, Chronic oral candidiasis, B lymphocytopenia, Bronchiectasis, Recur...	OMIM:150550
Immunodeficiency 96	Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Defective T cell pr...	OMIM:619774
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, Neutropenia, B lymphocytopenia	OMIM:613107
Lyme Disease	Arthritis, Infectious encephalitis, Joint swelling, Uveitis	ORPHA:91546
Beukes Hip Dysplasia	Shallow acetabular fossae, Osteoarthritis	OMIM:142669
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Chikungunya	Pedal edema, Knee pain, Crusting erythematous dermatitis, Enthesitis, Skin rash, Arthritis, Synov...	ORPHA:324625
Whim Syndrome 1	Decreased circulating antibody level, Neutropenia, Decreased circulating IgG level	OMIM:193670
Familial Avascular Necrosis Of Femoral Head	Limited hip movement, Hip osteoarthritis	ORPHA:86820
Fibrodysplasia Ossificans Progressiva	Respiratory insufficiency, Anemia, Ectopic ossification in ligament tissue, Synostosis of joints,...	ORPHA:337
Immunodeficiency 61	Decreased circulating total IgM, Recurrent respiratory infections, Arthritis, Decreased circulati...	OMIM:300310
Lymphoproliferative Syndrome, X-Linked, 2	Erythema nodosum, Hepatitis, Folliculitis, Decreased circulating antibody level, Pancytopenia, In...	OMIM:300635
Extensor Tendons Of Finger Anomalies	Camptodactyly of finger, Osteoporosis, Limitation of joint mobility	ORPHA:3294
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Prolonged neonatal jaundice, Osteoporosis, Lymphadenopathy, Bone-marrow f...	OMIM:257200
Common Variable Immunodeficiency	Splenomegaly, Abnormality of the liver, Hemolytic anemia, Bronchiectasis, Decreased circulating a...	ORPHA:1572
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibody level, ...	OMIM:615122
Beta-Thalassemia Intermedia	Hypothyroidism, Adrenal insufficiency, Hepatocellular carcinoma, Hepatosplenomegaly, Hypoparathyr...	ORPHA:231222
Immunodeficiency 43	Reduced natural killer cell count, Decreased specific antibody response to polysaccharide vaccine...	OMIM:241600
Omenn Syndrome	Hypothyroidism, Anemia, Thyroiditis, Autoimmunity, Edema, Lymphadenopathy, Eosinophilia, Erythrod...	ORPHA:39041
Coronary Artery Disease, Autosomal Dominant 2	Gout, Osteoporosis	OMIM:610947
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Epiphyseal Dysplasia, Multiple, 3	Abnormal hip joint morphology, Limited knee extension, Limited elbow extension, Osteoarthritis, D...	OMIM:600969
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Thyroiditis, Keratoconjunctivitis sicca, Punctate keratitis, Increased circula...	OMIM:617388
Alpha-Heavy Chain Disease	Anemia, Lymphadenopathy, Hepatomegaly, Dysgammaglobulinemia, Splenomegaly	ORPHA:100025
Autoimmune Hepatitis	Anti-liver cytosolic antigen type 1 antibody positivity, Sclerosing cholangitis, Diffuse hepatic ...	ORPHA:2137
Congenital Disorder Of Glycosylation, Type Iik	Osteoporosis, Thrombocytopenia, Joint laxity, Hepatomegaly	OMIM:614727
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Biliary tract abnormality, Neonatal cholestatic liver disease, Osteoporosis,...	ORPHA:79301
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent aphthous stomatitis, Rhinitis, Neutropenia, Periodontitis, Acut...	ORPHA:486
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Chronic oral candidiasis, T lymphocytopenia, B lymphocytopenia, Decreased circulating total IgM, ...	ORPHA:35078
Sarcoidosis	Abnormal lymph node morphology, Hypothyroidism, Pneumothorax, Bronchiectasis, Keratoconjunctiviti...	ORPHA:797
Popliteal Cyst	Abnormality of the knee, Joint swelling	OMIM:175750
Vertical Talus, Congenital	Arthritis	OMIM:192950
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	T lymphocytopenia, Recurrent aspiration pneumonia, Hepatosplenomegaly, Hepatomegaly, Absence of l...	ORPHA:79124
Blau Syndrome	Camptodactyly of finger, Pericarditis, Retrobulbar optic neuritis, Abnormal inflammatory response...	ORPHA:90340
Thymic Aplasia	Hypothyroidism, Chronic oral candidiasis, T lymphocytopenia, Decreased lymphocyte proliferation i...	ORPHA:83471
Pediatric Systemic Lupus Erythematosus	Pericardial effusion, Lupus anticoagulant, Myositis, Pleural effusion, Thrombocytopenia, Antinucl...	ORPHA:93552
Hereditary Xanthinuria	Gout, Arthropathy, Rheumatoid arthritis	ORPHA:3467
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenitis, Crohn's disease, Perianal abscess, Hemolytic anemia, Granuloma, Ulcerative colitis...	OMIM:618935
Multiple Epiphyseal Dysplasia Type 1	Genu varum, Genu valgum, Finger joint hypermobility, Limitation of joint mobility, Knee joint hyp...	ORPHA:93308
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Reduced natural killer cell count, Chronic bronchitis, T lymphocytopenia, Bronchiectasis, Sinusit...	OMIM:242860
Q Fever	Pericardial effusion, Cryoglobulinemia, Lupus anticoagulant, Hepatosplenomegaly, Pericarditis, An...	ORPHA:781
Refractory Celiac Disease	Inflammatory abnormality of the skin, Normocytic anemia, Abnormal spleen physiology, Autoimmune a...	ORPHA:398063
Majeed Syndrome	Increased susceptibility to fractures, Flexion contracture, Osteomyelitis, Inflammatory abnormali...	ORPHA:77297
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	T lymphocytopenia, Bronchiectasis, Eczema, Hepatosplenomegaly, Generalized osteoporosis, Delayed ...	ORPHA:391487
Netherton Syndrome	Hypereosinophilia, Increased circulating IgE level, Decreased circulating IgG level	OMIM:256500
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Hip osteoarthritis	OMIM:619248
Aspergillosis	Bronchiectasis, Pleural effusion, Eosinophilia, Pneumonia, Abnormality on pulmonary function test...	ORPHA:1163
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level	OMIM:616069
Thrombocytopenia 1	Increased circulating IgE level, Increased circulating IgA level, Congenital thrombocytopenia, De...	OMIM:313900
Avascular Necrosis Of Femoral Head, Primary, 1	Generalized osteoporosis, Avascular necrosis of the capital femoral epiphysis	OMIM:608805
Osteosarcoma	Osteolysis, Pathologic fracture, Joint swelling	ORPHA:668
Alpha-Mannosidosis	Avascular necrosis, Arthritis, Craniofacial hyperostosis, Synostosis of joints, Chronic otitis me...	ORPHA:61
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Osteoporosis, Joint hyperflexibility, Wormian bones	ORPHA:2787
Roifman Syndrome	Hip contracture, Decreased T cell activation, Decreased circulating antibody level, Delayed proxi...	ORPHA:353298
Immunodeficiency 84	Splenomegaly, Perianal abscess, B lymphocytopenia	OMIM:619437
Hemophagocytic Lymphohistiocytosis, Familial, 4	Conjunctivitis, Anemia, Skin rash, Jaundice, Edema, Lymphadenopathy, Hemophagocytosis, Hepatomega...	OMIM:603552
Diarrhea 5, With Tufting Enteropathy, Congenital	Arthritis	OMIM:613217
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hypereosinophilia, Polyhydramnios, Limited elbow movement, T lymphocytopenia, Decreased circulati...	ORPHA:508533
Hip Dysplasia, Beukes Type	Osteoarthritis, Abnormal bone ossification, Abnormality of bone mineral density, Abnormal ossific...	ORPHA:2114
Autoinflammatory Disease, Systemic, X-Linked	Osteomyelitis, Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody...	OMIM:301081
Monosomy 22	Hyperhidrosis, Contractures of the large joints, Hepatosplenomegaly, Hypochromic microcytic anemi...	ORPHA:96123
Autosomal Dominant Dopa-Responsive Dystonia	Progressive flexion contractures, Hypothyroidism, Rheumatoid arthritis	ORPHA:98808
Immunodeficiency 23	Hemolytic anemia, Increased circulating IgG level, Lymphopenia, Eosinophilia, Increased circulati...	OMIM:615816
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Enterocolitis, Decreased circulating total IgM, Interstitial pneumonitis, Ulcerative colitis, Rec...	OMIM:614878
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level	OMIM:618985
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Bronchiectasis, Decreased circulating antibody level, Recurrent sinusitis, Re...	OMIM:616576
Moderate Hemophilia A	Hip contracture, Arthropathy, Synovitis, Limitation of joint mobility, Joint swelling, Joint hemo...	ORPHA:169805
Pfapa Syndrome	Arthritis, Recurrent pharyngitis, Lymphadenopathy, Hepatomegaly, Infectious encephalitis, Splenom...	ORPHA:42642
Systemic Sclerosis	Osteolytic defects of the phalanges of the hand, Pulmonary arterial hypertension, Anti-centromere...	ORPHA:90291
Albers-Schönberg Osteopetrosis	Genu valgum, Joint dislocation, Osteomyelitis, Recurrent fractures, Anemia, Avascular necrosis, A...	ORPHA:53
Spondylosis, Cervical	Osteoarthritis	OMIM:184300
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypothyroidism, Crusting erythematous dermatitis, Anti-liver cytosolic antigen type 1 antibody po...	ORPHA:37042
Chromosome 15Q11.2 Deletion Syndrome	Asthma, Joint contracture, Elbow contracture, Juvenile rheumatoid arthritis	OMIM:615656
Aregenerative Anemia	Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni...	ORPHA:101096
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Brucellosis	Sacroiliac arthritis, Septic arthritis, Hip osteoarthritis, Pericarditis, Glomerulonephritis, Ple...	ORPHA:1304
Insulin Autoimmune Syndrome	Increased circulating antibody level, Autoimmunity, Autoimmune antibody positivity, Systemic lupu...	ORPHA:411593
Zika Virus Disease	Wrist swelling, Conjunctivitis, Myelitis, Skin rash, Arthritis, Edema, Ankle swelling, Thrombocyt...	ORPHA:448237
Boutonneuse Fever	Leukopenia, Skin rash, Lymphadenopathy, Increased circulating IgM level, Cervical lymphadenopathy...	ORPHA:83313
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615269
Eosinophilic Fasciitis	Arthritis, Fasciitis, Abnormal eosinophil morphology, Myositis, Edema, Muscular edema, Eosinophilia	ORPHA:3165
Hemochromatosis, Type 3	Anemia, Cirrhosis, Arthritis, Lymphopenia, Neutropenia	OMIM:604250
Fusariosis	Brain abscess, Bronchiectasis, Productive cough, Fasciitis, Myositis, Pleural effusion, Panniculi...	ORPHA:228119
Sézary Syndrome	Abnormal pleura morphology, Abnormal immunoglobulin level, Edema, Lymphadenopathy, Hepatomegaly, ...	ORPHA:3162
Familial Afibrinogenemia	Epistaxis, Joint swelling	ORPHA:98880
Immunodeficiency 12	Delayed skeletal maturation, Osteoporosis	OMIM:615468
Leukocyte Adhesion Deficiency, Type Iii	Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Epistaxis, Leukocytosis, Extramedulla...	OMIM:612840
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Abnormal macrophage morphology, Decreased circulating antibody lev...	ORPHA:2585
Omenn Syndrome	Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, E...	OMIM:603554
Hyper-Igd Syndrome	Lymphadenitis, Chronic oral candidiasis, Skin rash, Arthritis, Neutrophilia, Increased circulatin...	OMIM:260920
Subacute Inflammatory Demyelinating Polyneuropathy	Limitation of movement at ankles, Limited hip movement, Leukocytosis, Limited elbow flexion, Incr...	ORPHA:206594
Spondyloepiphyseal Dysplasia, Kimberley Type	Osteoarthritis	ORPHA:93283
Bone Marrow Failure Syndrome 4	Leukopenia, Anemia, Decreased circulating antibody level, Eczema, Bone marrow hypocellularity, Th...	OMIM:618116
Leishmaniasis	Leukopenia, Anemia, Abnormal macrophage morphology, Increased circulating antibody level, Pancyto...	ORPHA:507
Congenital Disorder Of Glycosylation, Type Iic	Periodontitis, Neutrophilia, Recurrent otitis media, Reduction of neutrophil motility, Bronchioli...	OMIM:266265
Congenital Disorder Of Glycosylation, Type Iir	Decreased circulating antibody level, Jaundice, Decreased proportion of CD4-positive T cells, Hep...	OMIM:301045
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome	Crohn's disease, Increased circulating antibody level, Arthritis, Limitation of joint mobility, M...	ORPHA:69126
Immunodeficiency 40	Respiratory tract infection, Chronic oral candidiasis, T lymphocytopenia, Interstitial pneumoniti...	OMIM:616433
Neonatal Alloimmune Neutropenia	Neutropenia in presence of anti-neutropil antibodies, Jaundice, Pneumonia, Antineutrophil antibod...	ORPHA:464370
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Polyhydramnios, Osteoporosis, Recurrent aspiration pneumonia	OMIM:619971
Pneumocystosis	Respiratory insufficiency, Chronic oral candidiasis, Exertional dyspnea, Increased circulating an...	ORPHA:723
Immunodeficiency 46	Conjunctivitis, Anemia, Chronic oral candidiasis, Decreased circulating antibody level, Recurrent...	OMIM:616740
Prieto Syndrome	Osteoporosis, Patellar dislocation, Patellar subluxation, Cryptorchidism	OMIM:309610
Congenital Tricuspid Stenosis	Pulmonary arterial hypertension, Bacterial endocarditis, Rheumatoid arthritis	ORPHA:95459
Idiopathic Non-Lupus Full-House Nephropathy	Decreased circulating complement C3 concentration, Skin rash, Arthritis, Synovitis, Autoimmunity,...	ORPHA:567544
Hypocomplementemic Urticarial Vasculitis	Pericardial effusion, Inflammatory abnormality of the eye, Pleural effusion, Airway obstruction, ...	ORPHA:36412
Autoimmune Hemolytic Anemia, Cold Type	Hemolytic anemia, Autoimmunity, Dyspnea, Abnormal leukocyte morphology, Splenomegaly	ORPHA:228312
Systemic Mastocytosis With Associated Hematologic Neoplasm	Increased susceptibility to fractures, Acute myeloid leukemia, Splenomegaly, Increased basophil c...	ORPHA:98849
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphadenopathy, Splenomegaly, Hepatomegaly	ORPHA:86893
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Osteoporosis, Patellar subluxation, Cryptorchidism	ORPHA:2958
Dyskeratosis Congenita, Autosomal Dominant 1	Leukopenia, Anemia, Cirrhosis, Interstitial pneumonitis, Hepatic necrosis, Lymphopenia, Dyspnea, ...	OMIM:127550
Familial Cold Autoinflammatory Syndrome 1	Conjunctivitis, Skin rash, Arthritis, Uveitis, Leukocytosis	OMIM:120100
Immunodeficiency 7	Hypereosinophilia, Chronic oral candidiasis, Recurrent respiratory infections, Autoimmunity, Recu...	OMIM:615387
Chondroectodermal Dysplasia With Night Blindness	Hyperhidrosis, Abnormality of the knee, Abnormal patella morphology, Delayed skeletal maturation,...	ORPHA:319195
Follicular Lymphoma	Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the peritoneum	ORPHA:545
Congenital Pseudoarthrosis Of The Clavicle	Osteoarthritis	ORPHA:66630
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Hypothyroidism, Avascular necrosis, Decreased circulating antibody level, Asthma, Hepatosplenomeg...	OMIM:619750
Propionic Acidemia	Anemia, Pancreatitis, Eczema, Pancytopenia, Apnea, Hepatomegaly, Dehydration, Thrombocytopenia, N...	OMIM:606054
Classic Mycosis Fungoides	Skin rash, Eczema, Edema, Lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormal lymphocyte morpho...	ORPHA:2584
Progressive Multifocal Leukoencephalopathy	Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells	ORPHA:217260
Reactive Arthritis	Conjunctivitis, Respiratory insufficiency, Abnormal pleura morphology, Recurrent aphthous stomati...	ORPHA:29207
Chronic Beryllium Disease	Respiratory insufficiency, Abnormal proportion of CD4-positive T cells, Abnormal respiratory syst...	ORPHA:133
Epidermodysplasia Verruciformis, Susceptibility To, 4	Increased proportion of exhausted T cells	OMIM:618307
Melioidosis	Septic arthritis, Respiratory tract infection, Brain abscess, Prostatitis, Abnormal parotid gland...	ORPHA:31202
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Cinca Syndrome	Delayed closure of the anterior fontanelle, Joint dislocation, Anemia, Abnormal granulocyte morph...	ORPHA:1451
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Decreased T cell activation, Defective T cell proliferation, Increased circulat...	OMIM:618213
Hemochromatosis, Type 1	Cirrhosis, Arthropathy, Hepatocellular carcinoma, Pleural effusion, Osteoporosis, Testicular atro...	OMIM:235200
Spondyloarthropathy, Susceptibility To, 1	Sacroiliac arthritis, Oligoarthritis, Hip osteoarthritis, Enthesitis, Inflammation of the large i...	OMIM:106300
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Anti-GAD65 antibody, Joint laxity, Osteoporosis	OMIM:616033
Graft Versus Host Disease	Maculopapular exanthema, Limited elbow movement, Inflammatory abnormality of the skin, Stiff inte...	ORPHA:39812
Mastocytosis	Respiratory insufficiency, Splenomegaly, Recurrent fractures, Asthma, Mastocytosis, Cough, Hepato...	ORPHA:98292
Blau Syndrome	Camptodactyly of finger, Erythema nodosum, Iritis, Arthritis, Synovitis, Eczema, Uveitis, Pericar...	OMIM:186580
Carcinoma Of Esophagus	Lymphadenopathy	ORPHA:70482
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Congenital knee dislocation, Increased susceptibility to fractures, Delayed closure of the anteri...	OMIM:130060
Spondyloepimetaphyseal Dysplasia, Irapa Type	Genu valgum, Abnormal carpal morphology, Synostosis of carpal bones, Limitation of joint mobility...	ORPHA:93351
Cyclic Neutropenia	Respiratory tract infection, Enterocolitis, Perianal abscess, Periodontitis, Decreased eosinophil...	ORPHA:2686
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Leukopenia, Acute myeloid leukemia, Asthma, Eczema, Systemic lupus erythematosus, Bone marrow hyp...	OMIM:616871
Autosomal Dominant Hyper-Ige Syndrome	Osteomyelitis, Recurrent fractures, Skin rash, Eczema, Increased circulating IgE level, Cough, Os...	ORPHA:2314
Combined Immunodeficiency With Faciooculoskeletal Anomalies	Abnormal T cell subset distribution, Reduced natural killer cell count, Chronic oral candidiasis,...	ORPHA:221139
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1	Anemia, Myeloid leukemia, Cirrhosis, Pancytopenia, Usual interstitial pneumonia, Reticular patter...	OMIM:614742
Flynn-Aird Syndrome	Increased bone density with cystic changes, Increased bone mineral density, Joint stiffness, Oste...	OMIM:136300
Paget Disease Of Bone 6	Recurrent fractures, Osteoarthritis	OMIM:616833
Alkaptonuria	Joint dislocation, Prostatitis, Arthritis, Joint swelling, Joint stiffness, Osteoarthritis, Reduc...	ORPHA:56
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Anti-Glomerular Basement Membrane Disease	Respiratory insufficiency, Anemia, Arthritis, Autoimmunity, Cough	ORPHA:375
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Osteochondritis dissecans, Osteoarthritis, Hip osteoarthritis	OMIM:165800
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Wrist swelling, Camptodactyly of finger, Pleuritis, Camptodactyly of toe, Polyarticular arthropat...	ORPHA:2848
Rigid Spine Syndrome	Respiratory insufficiency, Hip contracture, Elbow flexion contracture, Hamstring contractures, Pn...	ORPHA:97244
Microcephalic Primordial Dwarfism, Toriello Type	Neutropenia, Decreased circulating total IgM, Decreased circulating IgG level	ORPHA:2643
Dyskeratosis Congenita, Autosomal Dominant 2	Leukopenia, Hepatic fibrosis, Avascular necrosis, Pancytopenia, Thrombocytopenia, Bone marrow hyp...	OMIM:613989
Dominant Beta-Thalassemia	Hypothyroidism, Adrenal insufficiency, Hepatocellular carcinoma, Hepatosplenomegaly, Hypoparathyr...	ORPHA:231226
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6	Decreased circulating antibody level, Abnormally low T cell receptor excision circle level, Pancy...	OMIM:619767
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Lymphedema, Lymphadenopathy, Chronic otitis media, Abnormal neu...	ORPHA:3226
Immunodeficiency 21	Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly...	OMIM:614172
Whim Syndrome	Lymphadenitis, Respiratory tract infection, Neutropenia, Bronchiectasis, Abnormality of neutrophi...	ORPHA:51636
Pseudoachondroplasia	Genu varum, Genu valgum, Generalized joint laxity, Abnormal ossification involving the femoral he...	ORPHA:750
Acquired Partial Lipodystrophy	Hepatic steatosis, Lymphocytosis, Decreased circulating complement C3 concentration, Autoimmunity	ORPHA:79087
Melorheostosis	Arthritis, Increased bone mineral density, Ectopic ossification in muscle tissue, Joint stiffness	ORPHA:2485
Osteoporosis	Osteoporosis	OMIM:166710
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Arthritis, Hemosiderin-laden ma...	OMIM:616414
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Respiratory insufficiency, Intraalveolar phospholipid accumulation, Decreased circulating antibod...	OMIM:618042
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Eczema, Lupus anticoagulant, Recurrent sinusitis, Hepatosplenomegaly, Bone marrow hypocellularity...	OMIM:615688
Isolated Glycerol Kinase Deficiency	Osteoporosis, Cryptorchidism	ORPHA:408
Immunodeficiency 66	Defective T cell proliferation	OMIM:618847
Osteoporosis, Juvenile	Osteoporosis	OMIM:259750
Progressive Osseous Heteroplasia	Ectopic ossification in muscle tissue, Limitation of joint mobility, Osteoarthritis	ORPHA:2762
Staphylococcal Necrotizing Pneumonia	Leukopenia, Pneumothorax, Pleural empyema, Neutrophilia, Hypoxemia, Respiratory distress, Tachypn...	ORPHA:36238
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Polyhydramnios, Enterocolitis, Hypoplasia of the thymus, Recurrent respiratory infections, Decrea...	OMIM:243150
Dyskeratosis Congenita, Autosomal Dominant 3	Leukopenia, Avascular necrosis of the capital femoral epiphysis, Decreased DLCO, Pancytopenia, Bo...	OMIM:613990
Catastrophic Antiphospholipid Syndrome	Pulmonary arterial hypertension, Pulmonary embolism, Avascular necrosis, Abnormality of serum cyt...	ORPHA:464343
Griscelli Syndrome	Leukopenia, Pedal edema, Decreased circulating antibody level, Hepatitis, Jaundice, Abnormality o...	ORPHA:381
Hypergonadotropic Hypogonadism-Cataract Syndrome	Recurrent fractures, Increased circulating gonadotropin level, Secondary growth hormone deficienc...	ORPHA:2410
Asplenia, Isolated Congenital	Asplenia, Howell-Jolly bodies, Thrombocytosis	OMIM:271400
Good Syndrome	Thymoma, Anemia, Recurrent respiratory infections, Bronchiectasis, Decreased circulating antibody...	ORPHA:169105
Oculocerebrorenal Syndrome Of Lowe	Respiratory insufficiency, Patellar dislocation, Hip dislocation, Dehydration, Thrombocytopenia, ...	ORPHA:534
Familial Hemophagocytic Lymphohistiocytosis	Anemia, Erythroderma, Neutropenia, Increased circulating interleukin 6 concentration, Abnormality...	ORPHA:540
Beta-Thalassemia Major	Hypothyroidism, Adrenal insufficiency, Hepatocellular carcinoma, Hepatosplenomegaly, Hypoparathyr...	ORPHA:231214
Tempi Syndrome	Increased hematocrit, Increased circulating IgG level, Polycythemia	ORPHA:284227
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Reduced natural killer cell count, Perianal abscess, Increased circulating interleukin 6 concentr...	OMIM:301074
Immunodeficiency 54	Reduced natural killer cell count, Adrenocorticotropic hormone excess, Adrenal insufficiency, Lym...	OMIM:609981
Agammaglobulinemia 1, Autosomal Recessive	Conjunctivitis, Panhypogammaglobulinemia, Recurrent respiratory infections, Bronchiectasis, B lym...	OMIM:601495
Classic Hodgkin Lymphoma	Respiratory insufficiency, Hyperhidrosis, Skin rash, Osteolysis, Lymphadenopathy, Cough, Bone mar...	ORPHA:391
Systemic Lupus Erythematosus, Susceptibility To, 6	Pericarditis, Malar rash, Arthritis	OMIM:609939
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level	OMIM:614328
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Anemia, Reduced proportion of CD4+ effector memory T cells, Decreased circul...	ORPHA:90362
Immunodeficiency 31C	Hypothyroidism, Recurrent vulvovaginal candidiasis, Osteomyelitis, Chronic oral candidiasis, Bron...	OMIM:614162
Primary Sclerosing Cholangitis	Hepatocellular carcinoma, Cholangiocarcinoma, Hepatosplenomegaly, Pleural effusion, Hepatomegaly,...	ORPHA:171
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Lymphedema, Pulmonary lymphangiectasia, Camptodactyly, Pericardial lymphangiectasia, Osteoporosis...	OMIM:616006
Premature Ovarian Failure 2B	Osteoporosis	OMIM:300604
Rothmund-Thomson Syndrome, Type 1	Hypothyroidism, Delayed skeletal maturation, Osteoporosis, Recurrent otitis media	OMIM:618625
Acute Monoblastic/Monocytic Leukemia	Central hypothyroidism, Anemia, Exertional dyspnea, Lymphocytosis, Periorbital edema, Cervical ly...	ORPHA:514
Igg4-Related Submandibular Gland Disease	Increased circulating IgG4 level, Sialadenitis, Retroperitoneal fibrosis, Prostatitis, Increased ...	ORPHA:449432
Hyaline Fibromatosis Syndrome	Flexion contracture, Progressive flexion contractures, Osteolysis, Osteopenia, Osteoporosis	OMIM:228600
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Anemia, Osteomyelitis, Skin rash, Arthritis, Bone pain, Osteolysis, Craniofacial osteosclerosis, ...	ORPHA:324964
Eosinophilopenia	Decreased eosinophil count, Autoimmunity, Allergic rhinitis	OMIM:131430
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Recurrent fractures, Cryptorchidism, Increased circulating IgE level, Os...	ORPHA:3409
Dysplasia Epiphysealis Hemimelica	Genu varum, Genu valgum, Recurrent fractures, Joint stiffness, Tarsal synostosis, Osteoarthritis	ORPHA:1822
Bone Marrow Failure Syndrome 6	Hypothyroidism, Anemia, Recurrent sinusitis, Lymphopenia, Persistence of hemoglobin F, Osteopenia...	OMIM:618849
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteoporosis, Osteopenia	OMIM:615271
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis, Mandibular osteomyelitis, Os...	OMIM:166600
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