Gene: Clec4a2 MGI:1349412

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

C-type lectin domain family 4, member a2

Synonyms:

Dcir1, dendritic cell immunoreceptor, Clecsf6, DCIR

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 Clec4a2 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 Clec4a2 (0 diseases)
Human diseases predicted to be associated with Clec4a2 (580 diseases)

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

The table below shows human diseases predicted to be associated to Clec4a2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Epididymitis, ...	OMIM:608106
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency 72 With Autoinflammation	Herpes simplex encephalitis, Bronchiectasis, Lymphadenopathy, Recurrent otitis media, Increased c...	OMIM:618982
Psoriasis-Related Juvenile Idiopathic Arthritis	Autoimmunity, Psoriasiform dermatitis, Polyarticular arthritis, Abnormality of the knee, Oligoart...	ORPHA:85436
Immunodeficiency 24	Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula...	OMIM:615897
Immunodeficiency 64	Anti-thyroid peroxidase antibody positivity, Abnormal CD4:CD8 ratio, Defective T cell proliferati...	OMIM:618534
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level	OMIM:242880
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgA level, Impaired memory B cell generation, Decreased circulating IgG lev...	OMIM:606843
Immunodeficiency 27A	Leukocytosis, Thrombocytosis, Pneumonia, Salmonella osteomyelitis, Anemia, Rheumatoid factor posi...	OMIM:209950
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Bronchiectasis, Lymphadenopathy, Recurrent otitis media, Increased circ...	OMIM:619220
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Synovial hypertrophy, Abnormal hip joint morphology, Synovitis, Hip osteoarthritis, Ankle swellin...	ORPHA:85408
Hyperimmunoglobulin G1(A1) Syndrome	Increased circulating IgA level, Increased circulating IgG level	OMIM:144120
Immunodeficiency 25	Erythroderma, Complete or near-complete absence of specific antibody response to tetanus vaccine,...	OMIM:610163
Histiocytosis, Familial Lipochrome	Polyarticular arthritis, Increased circulating antibody level, Increased alpha-globulin, Histiocy...	OMIM:235900
Autoimmune Lymphoproliferative Syndrome	Platelet antibody positive, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulat...	OMIM:601859
Immunodeficiency 11	Decreased circulating antibody level, Pneumonia	OMIM:615206
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Complete o...	OMIM:613494
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgA level, Decreased circulating IgG level, Impaired Ig class switch recomb...	OMIM:605258
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Atopic dermatitis, Increased circulating interleukin 6, Decreased proportion of class-switched me...	OMIM:618944
Complement Component C1R/C1S Deficiency	Autoimmunity, Discoid lupus rash, Nephritis, Arthritis, Complement deficiency	OMIM:216950
Autoimmune Lymphoproliferative Syndrome, Type Iia	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ...	OMIM:603909
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Absent tonsils, Pneumonia, Lymph node hypoplasia, Aplasia of the thymus, Panhypogammaglobulinemia...	OMIM:602450
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Polyarticular arthritis, Synovitis, Rheumatoid factor positive, Symmetric polyarthritis, Osteopen...	ORPHA:85435
Immunodeficiency 89 And Autoimmunity	Hypochromic microcytic anemia, Bronchiectasis, Increased circulating IgA level, Rheumatoid factor...	OMIM:619632
Caspase 8 Deficiency	Eczema, Pneumonia, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG le...	OMIM:607271
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmunity, Recurrent otitis media, Splenomegaly, Increased circulating antibody level, Diarrhe...	OMIM:618495
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level	OMIM:242870
Sapho Syndrome	Psoriasiform dermatitis, Inflammation of the large intestine, Pustule, Synovitis, Abnormal sacroi...	ORPHA:793
Kimura Disease	Lymphadenopathy, Increased circulating IgE level, Abnormal salivary gland morphology, Follicular ...	ORPHA:482
Ige Responsiveness, Atopic	Increased circulating IgE level, Eczema, Allergic rhinitis	OMIM:147050
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG	OMIM:613495
Immunodeficiency 61	Agammaglobulinemia, Recurrent sinusitis, Arthritis, Recurrent otitis media	OMIM:300310
Immune Deficiency, Familial Variable	Decreased circulating IgA level, Decreased circulating IgG level	OMIM:146830
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	B lymphocytopenia, Pneumonia, Arthritis, Otitis media, Panhypogammaglobulinemia, Diarrhea, T lymp...	OMIM:601457
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmunity, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Hep...	OMIM:615559
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Glomerulonephritis, ...	OMIM:247800
Neutropenia, Chronic Familial	Periodontitis, Increased circulating antibody level	OMIM:162700
Combined Immunodeficiency, X-Linked	Sinusitis, Decreased circulating IgG level, Otitis media, Pneumonia	OMIM:312863
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Anti-thyroid peroxidase antibody positivity, Autoimmunity, Sinusitis, Inflammatory abnormality of...	ORPHA:277
Deafness, Neural, With Atypical Atopic Dermatitis	Late onset atopic dermatitis, Increased circulating IgE level	OMIM:221700
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Erythroderma, Neutropenia, Increased circulating IgA level, Decreased lymphocyte proliferation in...	ORPHA:169154
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, Decreased circulating IgG level, Decreased circulating total IgM	OMIM:618987
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM	OMIM:236000
Insulin Autoimmune Syndrome	Autoimmunity, Arthralgia/arthritis, Systemic lupus erythematosus, Autoimmune antibody positivity,...	ORPHA:411593
Sting-Associated Vasculopathy, Infantile-Onset	Thrombocytosis, Pustule, Leukopenia, Myositis, Increased circulating IgA level, Anemia, Rheumatoi...	OMIM:615934
Cirrhosis, Familial	Chronic active hepatitis, Increased circulating antibody level, Hepatitis	OMIM:118900
Lymphoid System Deterioration, Progressive	Decreased circulating IgG level, Decreased circulating total IgM	OMIM:247630
Chilblain Lupus	Inflammatory abnormality of the skin, Discoid lupus rash, Systemic lupus erythematosus, Chronic m...	ORPHA:90280
Igg4-Related Aortitis	Autoimmunity, Increased circulating IgG4 level, Cytoplasmic antineutrophil antibody positivity, C...	ORPHA:449400
Osteochondrosis Of The Tarsal Bone	Tarsal stippling, Abnormal tarsal ossification, Chondritis, Tarsal sclerosis, Arthritis, Osteocho...	ORPHA:563991
Immunodeficiency 14A, Autosomal Dominant	Decreased specific pneumococcal antibody level, Bronchiectasis, Lymphadenopathy, Splenomegaly, In...	OMIM:615513
Autoimmune Hepatitis	Inflammation of the large intestine, Sclerosing cholangitis, Antineutrophil antibody positivity, ...	ORPHA:2137
X-Linked Hypophosphatemia	Genu varum, Sacroiliac joint synovitis, Rickets, Vertebral hyperostosis, Generalized osteoscleros...	ORPHA:89936
Severe Combined Immunodeficiency, X-Linked	Agammaglobulinemia, Pneumonia, Decreased circulating IgA level, Reduced natural killer cell activ...	OMIM:300400
Spondyloarthropathy, Susceptibility To, 1	Psoriasiform dermatitis, Inflammation of the large intestine, Hip osteoarthritis, Oligoarthritis,...	OMIM:106300
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag...	OMIM:614699
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Autoimmunity, Eczema, Thrombocytosis, Macrocytic anemia, Vomiting, Decreased circulating antibody...	OMIM:617780
Immunodeficiency, Common Variable, 2	Conjunctivitis, Impaired T cell function, Decreased circulating IgA level, Lymphadenopathy, Decre...	OMIM:240500
Enthesitis-Related Juvenile Idiopathic Arthritis	Abnormal hip joint morphology, Hip osteoarthritis, Abnormality of the elbow, Oligoarthritis, Knee...	ORPHA:85438
Immunodeficiency, Common Variable, 3	Reduced isohemagglutinin level, Decreased circulating IgA level, Recurrent otitis media, Decrease...	OMIM:613493
Autoinflammation With Arthritis And Dyskeratosis	Keratoconjunctivitis sicca, Polyarticular arthritis, Increased circulating IgA level, Increased c...	OMIM:617388
Immunoglobulin Kappa Light Chain Deficiency	Abnormal immunoglobulin level	OMIM:614102
Chondrocalcinosis Due To Apatite Crystal Deposition	Osteoarthritis of the small joints of the hand, Costal cartilage calcification, Arthropathy, Chon...	OMIM:118610
Reactive Arthritis	Inflammation of the large intestine, Pericarditis, Pustule, Cartilage destruction, Arthritis, Ost...	ORPHA:29207
Immunodeficiency, Common Variable, 1	Pneumonia, Impaired T cell function, Decreased circulating IgA level, Lymphadenopathy, Decreased ...	OMIM:607594
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Decreased specific antibody response to vaccination, Decreased circulati...	OMIM:617765
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Psoriasiform dermatitis, Eczema, Bronchiectasis, Decreased circulating IgA level, Decreased circu...	OMIM:616100
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Pneumonia, Decreased circulating IgA level, Abnormal immun...	ORPHA:276
Pulmonary Nodular Lymphoid Hyperplasia, Familial	Increased circulating antibody level, Systemic lupus erythematosus, Antinuclear antibody positivi...	OMIM:178610
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Cystic acne, Sterile arthritis, Thrombocytosis, Sterile abscess, Colitis, Acne, Arthritis, Knee f...	OMIM:604416
Pgm3-Cdg	Autoimmunity, Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Chronic ...	ORPHA:443811
Autoimmune Lymphoproliferative Syndrome	Autoimmunity, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, N...	ORPHA:3261
Autosomal Recessive Hypophosphatemic Rickets	Polyarticular arthritis, Genu varum, Enlargement of the wrists, Abnormal sacroiliac joint morphol...	ORPHA:289176
Immunodeficiency 14B, Autosomal Recessive	Thrombocytosis, Leukocytosis, Inflammation of the large intestine, B lymphocytopenia, Polyarticul...	OMIM:619281
Whim Syndrome 1	Abnormal morphology of female internal genitalia, Bronchiectasis, Decreased circulating IgG level...	OMIM:193670
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Absent tonsils, Decreased circulating IgA level, Decreased circulating IgG level, Abnormality of ...	OMIM:611926
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Autoimmunity, Decreased circulating IgA level, Decreased circulating IgG level, Chronic oral cand...	ORPHA:275
Candidiasis, Familial, 2	Lymphadenopathy, Increased circulating IgE level, Chronic oral candidiasis	OMIM:212050
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM	OMIM:153600
Schnitzler Syndrome	Leukocytosis, Anemia, Arthritis, Splenomegaly, Increased circulating IgM level, Skin rash, Increa...	ORPHA:37748
Chikungunya	Infectious encephalitis, Synovitis, Vomiting, Periostitis, Arthritis, Ankle joint effusion, Joint...	ORPHA:324625
Osteochondrosis Of The Metatarsal Bone	Sclerosis of foot bone, Chondritis, Osteochondrosis, Arthritis, Joint stiffness, Progressive join...	ORPHA:564003
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Autoimmunity, Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific pneu...	OMIM:617006
Immunodeficiency 85 And Autoimmunity	Eczema, Erythroderma, Vomiting, Decreased circulating IgA level, Oligoarthritis, Decreased circul...	OMIM:619510
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome	Pustule, Myositis, Lymphadenopathy, Acne, Arthritis, Increased inflammatory response, Crohn's dis...	ORPHA:69126
Idiopathic Non-Lupus Full-House Nephropathy	Synovitis, Decreased serum complement C4, Elevated circulating creatinine concentration, Arthriti...	ORPHA:567544
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level	OMIM:233650
Mueller-Weiss Syndrome	Sclerosis of foot bone, Chondritis, Limitation of movement at ankles, Knee osteoarthritis, Arthri...	ORPHA:566943
Talo-Patello-Scaphoid Osteolysis	Synovitis, Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Osteolysis of patellae	ORPHA:50809
Ras-Associated Autoimmune Leukoproliferative Disorder	Autoimmunity, Neutropenia, Decreased lymphocyte apoptosis, Leukemia, Monocytosis, Splenomegaly, I...	OMIM:614470
Immunodeficiency 60 And Autoimmunity	Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Perinuclear ant...	OMIM:618394
Epiphyseal Dysplasia, Multiple, 3	Abnormal hip joint morphology, Elevated circulating creatine kinase concentration, Limited knee e...	OMIM:600969
Immunodeficiency, Common Variable, 11	Inflammation of the large intestine, Decreased proportion of class-switched memory B cells, Mucoi...	OMIM:615767
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, Increased circulating antibody level, Skin rash	OMIM:618048
Hypophosphatemic Rickets	Hypercalcemia, Rickets, Fibrous dysplasia of the bones, Hyperostosis, Hypophosphatemia, Odontodys...	ORPHA:437
Panniculitis-Induced Localized Lipodystrophy	Inflammatory abnormality of the skin, Abnormal immunoglobulin level, Absence of subcutaneous fat,...	ORPHA:90159
Subcorneal Pustular Dermatosis	Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma...	ORPHA:48377
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae	OMIM:609655
Glycoprotein Storage Disease	Gout, Splenomegaly	OMIM:232900
Subacute Inflammatory Demyelinating Polyneuropathy	Limited elbow flexion, Leukocytosis, Limitation of movement at ankles, Increased circulating IgG ...	ORPHA:206594
Immunodeficiency 70	B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci...	OMIM:618969
Lymphoproliferative Syndrome 1	Autoimmunity, Leukopenia, Stomatitis, Decreased circulating IgG level, Decreased circulating anti...	OMIM:613011
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating total IgA, Erythroderma, Pneumonia, Protracted diarrhea, Decreased circulat...	ORPHA:169160
Lymphoproliferative Syndrome 3	Lymphadenopathy, Partial absence of specific antibody response to tetanus vaccine, Hepatosplenome...	OMIM:618261
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive	Eczema, Bronchiectasis, Recurrent otitis media, Craniosynostosis, Joint contracture of the hand, ...	OMIM:618523
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmunity, Abnormal B cell count, Decreased circulating IgA level, Lymphadenitis, Decreased ci...	ORPHA:331206
X-Linked Agammaglobulinemia	Sinusitis, Autoimmunity, Agammaglobulinemia, Neutropenia, Recurrent cutaneous abscess formation, ...	ORPHA:47
Immunodeficiency 23	Eczema, Allergic rhinitis, Neutropenia, Bronchiectasis, Abscess, Rheumatoid factor positive, Incr...	OMIM:615816
Boutonneuse Fever	Lymphadenopathy, Increased circulating IgG level, Increased circulating IgM level, Maculopapular ...	ORPHA:83313
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anti-glutamic acid decarboxylase antibody positivity, Eczema, Eosinophilia, Erythroderma, Neutrop...	OMIM:304790
Agammaglobulinemia, X-Linked	Sinusitis, Enteroviral hepatitis, Agammaglobulinemia, Infectious encephalitis, Pyoderma, Pneumoni...	OMIM:300755
Immunodeficiency 92	Cholangitis, Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cel...	OMIM:619652
Immunodeficiency 50	Eczema, Decreased circulating antibody level, Neutropenia, Lymphopenia	OMIM:300988
Macrophage Activation Syndrome	Autoimmunity, Hemophagocytosis, Increased circulating interleukin 6, Neutropenia, Systemic lupus ...	ORPHA:158061
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Inflammation of the large intestine, Interface hepatitis, Sclerosing cholangitis, Granulomatous c...	ORPHA:562639
Neurodegeneration, Infantile-Onset, Biotin-Responsive	Decreased circulating IgG level, Episodic vomiting	OMIM:618973
Familial Cold Autoinflammatory Syndrome 2	Leukocytosis, Arthritis, Splenomegaly, Skin rash, Recurrent aphthous stomatitis, Elevated circula...	OMIM:611762
Brucellosis	Myocarditis, Knee osteoarthritis, Rheumatoid factor positive, Septic arthritis, Splenomegaly, Hyp...	ORPHA:1304
Congenital Atransferrinemia	Anemia, Arthritis, Hypothyroidism	ORPHA:1195
Oligoarticular Juvenile Idiopathic Arthritis	Autoimmunity, Oligoarthritis, Knee osteoarthritis, Joint hypermobility, Rheumatoid arthritis, Uve...	ORPHA:85410
Isolated Agammaglobulinemia	Sinusitis, Autoimmunity, Pneumonia, Recurrent cutaneous abscess formation, Abnormal lymphocyte mo...	ORPHA:229717
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Splenomegaly, Uveitis, Decreased circulating total IgM, Panc...	OMIM:614700
Lymphoproliferative Syndrome, X-Linked, 1	Infectious encephalitis, Neutropenia, Reduced natural killer cell activity, Decreased circulating...	OMIM:308240
Mu-Heavy Chain Disease	Abnormal B cell count, Osteoporosis, Anemia, Splenomegaly, Increased circulating antibody level, ...	ORPHA:100024
Palmoplantar Keratoderma, Epidermolytic	Increased circulating IgE level	OMIM:144200
Cernunnos-Xlf Deficiency	Autoimmunity, B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Throm...	ORPHA:169079
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Glomerulonephritis	OMIM:314000
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	Eczematoid dermatitis, Craniosynostosis, Chronic mucocutaneous candidiasis, Osteopenia, Joint hyp...	OMIM:147060
Systemic Lupus Erythematosus	Lupus nephritis, Pericarditis, Leukopenia, Systemic lupus erythematosus, Nephritis, Arthritis, Ma...	OMIM:152700
Erythema Elevatum Diutinum	Increased circulating antibody level, Skin rash	ORPHA:90000
Felty Syndrome	Sinusitis, Autoimmunity, Pericarditis, Episcleritis, Synovitis, Neutropenia, Chronic otitis media...	ORPHA:47612
Agammaglobulinemia 8, Autosomal Dominant	Agammaglobulinemia, Recurrent otitis media	OMIM:616941
Immunoglobulin A Deficiency 2	Decreased circulating IgA level, Autoimmunity, Abnormal lymphocyte morphology	OMIM:609529
Coronary Artery Disease, Autosomal Dominant 2	Hyperlipidemia, Osteoporosis, Gout, Hypercholesterolemia, Hypertriglyceridemia	OMIM:610947
Autosomal Agammaglobulinemia	Sinusitis, Agammaglobulinemia, Neutropenia, Bronchiectasis, Chronic otitis media, Hepatitis, Arth...	ORPHA:33110
Simple Cryoglobulinemia	Viral hepatitis, Chronic lymphatic leukemia, Pericarditis, Monoclonal immunoglobulin M proteinemi...	ORPHA:91139
Pyoderma Gangrenosum	Inflammation of the large intestine, Pustule, Myositis, Atrophic scars, Increased circulating ant...	ORPHA:48104
Immunodeficiency With Hyper-Igm, Type 4	Osteomyelitis, Impaired Ig class switch recombination, Absence of lymph node germinal center, Bro...	OMIM:608184
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Vexas Syndrome	Inflammatory abnormality of the skin, Macrocytic anemia, Nasal chondritis, Chondritis of pinna, N...	OMIM:301054
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Crescentic glomerulonephritis, Elevated circulating C-reactive protein concentration, Antinuclear...	OMIM:616414
Adult-Onset Still Disease	Myocarditis, Leukocytosis, Pericarditis, Abnormal circulating lipid concentration, Hepatitis, Bon...	ORPHA:829
Familial Cold Autoinflammatory Syndrome 1	Leukocytosis, Arthritis, Uveitis, Skin rash, Elevated circulating C-reactive protein concentratio...	OMIM:120100
Immunodeficiency With Hyper-Igm, Type 1	Stomatitis, Decreased circulating IgA level, Sclerosing cholangitis, Impaired memory B cell gener...	OMIM:308230
Transcobalamin Deficiency	Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat...	ORPHA:859
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sinusitis, Autoimmunity, Neutropenia, Lack of T cell function, Neutropenia in presence of anti-ne...	ORPHA:572
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	B lymphocytopenia, Neutropenia, Pancytopenia, Leukopenia, Partial absence of specific antibody re...	OMIM:618986
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczema, Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed ...	OMIM:617241
Hemochromatosis, Type 3	Increased serum iron, Neutropenia, Anemia, Arthritis, Elevated transferrin saturation, Increased ...	OMIM:604250
Immunodeficiency, Common Variable, 10	Anti-thyroid peroxidase antibody positivity, Psoriasiform dermatitis, Central adrenal insufficien...	OMIM:615577
Familial Calcium Pyrophosphate Deposition	Chondrocalcinosis, Joint dislocation, Arthritis, Calcification of cartilage, Limitation of joint ...	ORPHA:1416
Dracunculiasis	Recurrent cutaneous abscess formation, Arthritis, Skin rash, Flexion contracture, Limitation of j...	ORPHA:231
Brachydactylous Dwarfism, Mseleni Type	Hip osteoarthritis, Knee osteoarthritis, Osteopenia, Abnormality of the wrist, Joint subluxation,...	ORPHA:2619
Insulin-Resistance Syndrome Type B	Autoimmunity, Pneumonia, Leukopenia, Increased circulating IgA level, Abnormal circulating lipid ...	ORPHA:2298
Selective Igm Deficiency	Autoimmunity, Non-infectious meningitis, Neutropenia in presence of anti-neutropil antibodies, Fa...	ORPHA:331235
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level, Extramedulla...	OMIM:615285
Cinca Syndrome	Leukocytosis, Patellar overgrowth, Anemia, Arthritis, Hepatosplenomegaly, Uveitis, Skin rash, Eos...	OMIM:607115
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema	Eczema, Inflammation of the large intestine, Neutropenia, Dysphagia, Decreased circulating IgG le...	OMIM:608809
Angiostrongyliasis	Stiff neck, Vomiting, Nausea, Increased circulating IgA level, Increased circulating IgG level, I...	ORPHA:74
Overlap Myositis	Autoimmunity, Dysphagia, Leukopenia, Elevated circulating creatine kinase concentration, Abnormal...	ORPHA:206572
Immunodeficiency 33	Increased circulating IgA level, Decreased circulating total IgM	OMIM:300636
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Lymphopenia, Arthritis, Limitation of joint mobility	ORPHA:2582
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Hepatitis, Decreased circulating antibody leve...	OMIM:300635
Combined Immunodeficiency Due To Dock8 Deficiency	Atopic dermatitis, B lymphocytopenia, Pneumonia, Chronic otitis media, Increased circulating IgE ...	ORPHA:217390
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Autoimmunity, Cholangitis, Decreased specific pneumococcal antibody level, Decreased circulating ...	ORPHA:183675
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Glomerulonephritis, Complete or near-complete abs...	OMIM:613496
Proteasome-Associated Autoinflammatory Syndrome 3	Sinusitis, Myositis, Panniculitis, Anemia, Arthritis, Lipodystrophy, Splenomegaly, Increased circ...	OMIM:617591
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Eng-Strom Syndrome	Arthritis, Camptodactyly of finger	ORPHA:1937
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Pann...	OMIM:617099
Osteoarthritis Susceptibility 3	Joint stiffness, Osteoarthritis, Osteoarthritis of the first carpometacarpal joint, Osteoarthriti...	OMIM:607850
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Elevated circulating C-reactive protein concentration, Rheu...	ORPHA:79099
Igg4-Related Submandibular Gland Disease	Abnormal salivary gland morphology, Cholangitis, Prostatitis, Lymphadenopathy, Abnormal pancreas ...	ORPHA:449432
Albers-Schönberg Osteopetrosis	Generalized osteosclerosis, Anemia, Arthritis, Joint dislocation, Osteomyelitis, Genu valgum, Man...	ORPHA:53
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati...	OMIM:202700
Multicentric Reticulohistiocytosis	Arthritis, Histiocytosis	ORPHA:139436
C3 Glomerulopathy	Autoimmunity, C3 nephritic factor positivity, Decreased serum complement C4, Elevated circulating...	ORPHA:329918
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Psoriasiform dermatitis, Eczema, B lymphocytopenia, Erythroderma, Decreased circulating IgA level...	OMIM:606367
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Eczema, Thyroiditis	OMIM:618985
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Igg4-Related Kidney Disease	Tubulointerstitial nephritis, Rheumatoid factor positive, Eosinophilia, Elevated circulating C-re...	ORPHA:449395
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Inflammation of the large intestine, Abnormal sacroiliac joint morpholog...	ORPHA:324964
Thymoma	Autoimmunity, Abnormal lymphocyte proliferation, Imbalanced hemoglobin synthesis, Anti-acetylchol...	ORPHA:99867
Kienbock Disease	Abnormality of the wrist, Osteochondritis Dissecans, Osteoarthritis, Limitation of joint mobility	ORPHA:97332
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Anti-thyroid peroxidase antibody positivity, Autoimmunity, Decreased prealbumin level, Eczema, Tu...	ORPHA:37042
Tularemia	Mediastinal lymphadenopathy, Pneumonia, Lymphadenopathy, Increased circulating antibody level, Ot...	ORPHA:3392
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Lymphadenopathy, Decreased circulating antibody level, Abnormal natural killer cell physiology, S...	OMIM:613101
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmunity, Recurrent otitis media, Systemic lupus erythematosus, Hepatitis, Splenomegaly, Auto...	ORPHA:444463
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency	Hypoproteinemia, Neutropenia, Vomiting, Decreased circulating IgG level, Hypoalbuminemia, Secreto...	OMIM:600351
Igg4-Related Thyroid Disease	Anti-thyroid peroxidase antibody positivity, Autoimmunity, Dysphagia, Increased circulating IgG4 ...	ORPHA:64744
X-Linked Lymphoproliferative Disease	Myocarditis, Autoimmunity, Inflammation of the large intestine, Decreased circulating antibody le...	ORPHA:2442
Lymphangiectasia, Intestinal	Intestinal lymphangiectasia, Decreased circulating IgG level	OMIM:152800
Juvenile Idiopathic Arthritis	Autoimmunity, Psoriasiform dermatitis, Abnormal joint morphology, Abnormal sacroiliac joint morph...	ORPHA:92
Systemic-Onset Juvenile Idiopathic Arthritis	Autoimmunity, Pericarditis, Anterior uveitis, Splenomegaly, Juvenile rheumatoid arthritis, Skin r...	ORPHA:85414
Chondrocalcinosis 2	Arthropathy, Osteoarthritis, Polyarticular chondrocalcinosis	OMIM:118600
Developmental Dysplasia Of The Hip 2	Arthritis, Hip osteoarthritis	OMIM:615612
Agammaglobulinemia 1, Autosomal Recessive	Sinusitis, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Pneumonia, Bronchiectasis, Decreas...	OMIM:601495
Legg-Calvé-Perthes Disease	Joint dislocation, Cartilage destruction	ORPHA:2380
Hemochromatosis, Type 2A	Increased serum iron, Increased circulating ferritin concentration, Arthritis, Splenomegaly	OMIM:602390
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Autoimmunity, Leukocytosis, Increased circulating IgE level, Hypereosinophilia...	ORPHA:2902
Pediatric Systemic Lupus Erythematosus	Thrombocytopenia, Microangiopathic hemolytic anemia, Myositis, Leukopenia, Decreased serum comple...	ORPHA:93552
Leishmaniasis	Leukopenia, Rhinitis, Anemia, Splenomegaly, Abnormal macrophage morphology, Increased circulating...	ORPHA:507
Ectodermal Dysplasia And Immunodeficiency 1	Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Apla...	OMIM:300291
Caffey Disease	Cortical thickening of long bone diaphyses, Periosteal thickening of long tubular bones, Increase...	ORPHA:1310
Immunodeficiency 36	Autoimmunity, Chronic lymphatic leukemia, Bronchiectasis, Decreased circulating antibody level, S...	OMIM:616005
Rheumatoid Arthritis	Polyarticular arthritis, Rheumatoid factor positive, Rheumatoid arthritis, Anti-citrullinated pro...	OMIM:180300
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM	OMIM:300861
Dystrophic Epidermolysis Bullosa Pruriginosa	Scarring, Abnormality of the elbow, Atrophic scars, Abnormality of the wrist, Increased circulati...	ORPHA:89843
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Pyoderma, Pneumonia, Prostatitis, Abse...	OMIM:307200
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Pustule, Lack of T...	ORPHA:35078
Autoimmune Polyendocrinopathy Type 4	Keratoconjunctivitis sicca, Autoimmunity, Macrocytic anemia, Tubulointerstitial nephritis, Atroph...	ORPHA:227990
Hyper-Igd Syndrome	Leukocytosis, Vomiting, Increased circulating IgA level, Lymphadenitis, Chronic oral candidiasis,...	OMIM:260920
Multiple Epiphyseal Dysplasia Type 1	Abnormal acetabulum morphology, Genu varum, Delayed epiphyseal ossification, Genu valgum, Finger ...	ORPHA:93308
Multiple Myeloma	Hyperproteinemia, Hypercalcemia, Increased circulating IgA level, Elevated circulating creatinine...	ORPHA:29073
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Synovial hypertrophy, Constrictive pericarditis, Congenital finger flexion contractures, Generali...	OMIM:208250
Autoimmune Polyendocrinopathy Type 3	Keratoconjunctivitis sicca, Autoimmunity, Macrocytic anemia, Autoimmune hypoparathyroidism, Tubul...	ORPHA:227982
Aicardi-Goutieres Syndrome 7	Atopic dermatitis, Thrombocytopenia, Increased circulating antibody level, Splenomegaly	OMIM:615846
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level, Autoimmune antibody positivity, Vomiting, Nausea	ORPHA:90003
Iga Pemphigus	Pustule, Increased circulating IgA level, Neutrophilic infiltration of the skin, Autoimmune antib...	ORPHA:555905
Immunodeficiency 43	Decreased circulating IgG level, Bronchiectasis	OMIM:241600
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level	ORPHA:2571
Immunodeficiency 31C	Autoimmunity, Eczema, Chronic mucocutaneous candidiasis, Osteopenia, Lymphopenia, Hypothyroidism,...	OMIM:614162
Melorheostosis	Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Atypical scarring of skin, Increa...	ORPHA:2485
Zika Virus Disease	Wrist swelling, Infectious encephalitis, Ankle swelling, Vomiting, Arthritis, Increased circulati...	ORPHA:448237
Psoriasis 14, Pustular	Cholangitis, Psoriasiform dermatitis, Leukocytosis, Pustule, Polyarticular arthritis, Oligoarthri...	OMIM:614204
Angel-Shaped Phalangoepiphyseal Dysplasia	Premature osteoarthritis, Hyperextensibility of the finger joints, Hip osteoarthritis, Delayed os...	OMIM:105835
Catastrophic Antiphospholipid Syndrome	Anti-beta 2 glycoprotein I antibody positivity, Myocarditis, Abnormality of serum cytokine level,...	ORPHA:464343
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating IgG level, Enamel hypoplasia, Neutropenia, Decreased circulating total IgM	ORPHA:2643
Igg4-Related Pachymeningitis	Sinusitis, Dysphagia, Lymphadenitis, Nephritis, Increased circulating IgG4 level, Pancreatitis, P...	ORPHA:449427
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Sinusitis, B lymphocytopenia, Pneumonia, Decreased circulating IgA level, Reduced red cell adenos...	OMIM:102700
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Osteoarthritis, Anemia, Elevated transferrin satura...	OMIM:606069
Secondary Non-Traumatic Avascular Necrosis	Autoimmunity, Abnormality of connective tissue, Systemic lupus erythematosus, Rheumatoid arthriti...	ORPHA:399180
Immunoglobulin A Deficiency 1	Decreased circulating IgA level, Autoimmunity	OMIM:137100
Adult-Onset Nemaline Myopathy	Neuromuscular dysphagia, Paraproteinemia, Mildly elevated creatine kinase, Flexion contracture	ORPHA:171442
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8, Adipose tissue loss, Parotitis, Splenomegaly, Camptodactyly ...	OMIM:256040
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmunity, Eczema, Polyarticular arthritis, Interstitial pneumonitis, Neutropenia in presence ...	OMIM:615952
Hyperimmunoglobulinemia D With Periodic Fever	Peritonitis, Increased circulating IgA level, Arthritis, Intestinal obstruction, Gastrointestinal...	ORPHA:343
Hip Dysplasia, Beukes Type	Abnormality of bone mineral density, Abnormal bone ossification, Osteoarthritis, Abnormal ossific...	ORPHA:2114
Immunodeficiency 57 With Autoinflammation	B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Decreased circulating ant...	OMIM:618108
Sweet Syndrome	Leukocytosis, Chronic lymphatic leukemia, Inflammation of the large intestine, Increased circulat...	ORPHA:3243
Adult Idiopathic Neutropenia	Neutropenia, Monocytosis, Increased circulating IgM level, Lymphopenia, Monocytopenia, Recurrent ...	ORPHA:2688
Graft Versus Host Disease	Stomatitis, Fasciitis, Hepatosplenomegaly, Dupuytren contracture, Maculopapular exanthema, Stiff ...	ORPHA:39812
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Arthritis, Splenomegaly, Joint swelling, Lipogranulomatos...	OMIM:228000
Q Fever	Myocarditis, Thrombocytopenia, Hepatitis, Rheumatoid factor positive, Splenomegaly, Hepatosplenom...	ORPHA:781
Systemic Lupus Erythematosus, Susceptibility To, 6	Pericarditis, Systemic lupus erythematosus, Arthritis, Malar rash, Antinuclear antibody positivity	OMIM:609939
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating IgG level, Enamel hypoplasia, Neutropenia, Decreased circulating total IgM	OMIM:251190
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ...	OMIM:617062
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukocytosis, Eczema, Thrombocytosis, Hashimoto thyroiditis, Leukopenia, Decreased circulating an...	OMIM:615688
Tempi Syndrome	Polycythemia, Increased hematocrit, Increased circulating IgG level	ORPHA:284227
Lesch-Nyhan Syndrome	Anemia, Gout, Hyperuricemia	ORPHA:510
Cranio-Osteoarthropathy	Eczema, Abnormality of the knee, Arthritis, Abnormal cortical bone morphology, Joint stiffness, O...	ORPHA:1525
Chondrocalcinosis 1	Osteoarthritis, Chondrocalcinosis	OMIM:600668
Tick-Borne Encephalitis	Leukocytosis, Abnormality of serum cytokine level, Stiff neck, Dysphagia, Leukopenia, Vomiting, N...	ORPHA:297
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Leukocytosis, Thrombocytosis, Bloody diarrhea, Defective T cell proliferation, Increased circulat...	OMIM:618213
Pseudoachondroplasia	Limited hip extension, Genu varum, Increased laxity of ankles, Irregular acetabular roof, Irregul...	ORPHA:750
Combined Immunodeficiency With Faciooculoskeletal Anomalies	Psoriasiform dermatitis, B lymphocytopenia, Decreased circulating total IgA, Decreased specific a...	ORPHA:221139
Coccidioidomycosis	Abnormality of the spleen, Pericarditis, Folliculitis, Pneumonia, Peritonitis, Abscess, Panniculi...	ORPHA:228123
Postinfectious Vasculitis	Inflammatory abnormality of the skin, Bacterial endocarditis, Cryoglobulinemia, Pneumonia, Increa...	ORPHA:48435
Purine Nucleoside Phosphorylase Deficiency	Sinusitis, Pneumonia, Lymph node hypoplasia, Impaired T cell function, Decreased lymphocyte proli...	OMIM:613179
Bacterial Toxic-Shock Syndrome	Sinusitis, Myocarditis, Fasciitis, Hepatitis, Septic arthritis, Diarrhea, Increased circulating m...	ORPHA:36234
Majeed Syndrome	Inflammatory abnormality of the skin, Abnormal inflammatory response, Leukocytosis, Pustule, Syno...	ORPHA:77297
Sitosterolemia 1	Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Arthrit...	OMIM:210250
Gaucher Disease Type 1	Leukopenia, Anemia, Splenomegaly, Pathologic fracture, Osteopenia, Hypersplenism, Increased circu...	ORPHA:77259
Dysspondyloenchondromatosis	Generalized joint laxity, Joint dislocation, Genu valgum, Enlarged joints, Osteoarthritis, Multip...	ORPHA:85198
Anti-Glomerular Basement Membrane Disease	Autoimmunity, Anemia, Arthritis	ORPHA:375
Immunodeficiency 82 With Systemic Inflammation	Hypernatremia, Hepatitis, Splenomegaly, Gastritis, Crohn's disease, Decreased circulating total I...	OMIM:619381
Familial Avascular Necrosis Of Femoral Head	Limited hip movement, Hip osteoarthritis	ORPHA:86820
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis	OMIM:617772
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephritis, Gout, Hyperuricemia	OMIM:162000
Prolidase Deficiency	Eczema, Thrombocytopenia, Systemic lupus erythematosus, Anemia, Splenomegaly, Increased circulati...	OMIM:170100
Mast Cell Sarcoma	Lymphadenopathy, Mastocytosis, Mediastinal lymphadenopathy, Splenomegaly	ORPHA:66661
Combined Oxidative Phosphorylation Deficiency 53	Hypochromic microcytic anemia, Arthritis, Septic arthritis, Osteomyelitis, Elevated circulating C...	OMIM:619423
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Congenital bilateral hip dislocation, Increased susceptibility to fractures, Atrophic scars, Oste...	OMIM:130060
Ebola Hemorrhagic Fever	Dysphagia, Leukopenia, Vomiting, Nausea, Hepatitis, Melena, Increased circulating antibody level,...	ORPHA:319218
Osteoarthritis With Mild Chondrodysplasia	Joint stiffness, Knee osteoarthritis, Heberden's node, Hip osteoarthritis	OMIM:604864
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Bronchiectasis, Decreased circulating IgA level, Reduced natural killer cel...	OMIM:242860
Mixed Connective Tissue Disease	Myocarditis, Autoimmunity, Keratoconjunctivitis sicca, Pericarditis, Leukopenia, Myositis, Xerost...	ORPHA:809
Osteoarthritis Susceptibility 2	Osteoarthritis, Heberden's node	OMIM:140600
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level, Blepharitis, Erythroderma, Pustule	OMIM:614328
Eosinophilic Fasciitis	Myositis, Fasciitis, Arthritis, Abnormal eosinophil morphology, Cellulitis, Eosinophilia	ORPHA:3165
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Leukocytosis, Pericarditis, Vomiting, Peritonitis, Myositis, Abnormal sacroiliac joint morphology...	ORPHA:32960
Autosomal Dominant Hyper-Ige Syndrome	Eczema, Chronic otitis media, Craniosynostosis, Osteomyelitis, Osteopenia, Increased circulating ...	ORPHA:2314
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Autoimmunity, Panniculitis, Anemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Gout, Neutropenia, Hyperuricemia	OMIM:617056
Scleroderma	Myocarditis, Autoimmunity, Pericarditis, Episcleritis, Elevated circulating creatine kinase conce...	ORPHA:801
Glycogen Storage Disease Vii	Gout, Increased total bilirubin, Hyperuricemia, Reticulocytosis, Reduced erythrocyte 2,3-diphosph...	OMIM:232800
Polymyositis	Autoimmunity, Chondrocalcinosis, Pericarditis, Elevated circulating creatine kinase concentration...	ORPHA:732
Hypocomplementemic Urticarial Vasculitis	Autoimmunity, Episcleritis, Joint dislocation, Arthritis, Splenomegaly, Complement deficiency, Uv...	ORPHA:36412
Igg4-Related Dacryoadenitis And Sialadenitis	Keratoconjunctivitis sicca, Autoimmunity, Tubulointerstitial nephritis, Myositis, Increased circu...	ORPHA:79078
Diarrhea 5, With Tufting Enteropathy, Congenital	Intractable diarrhea, Arthritis	OMIM:613217
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circ...	ORPHA:90362
Hypotrichosis Simplex Of The Scalp	Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis	ORPHA:90368
Sydenham Chorea	Septic arthritis, Endocarditis	ORPHA:306731
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Prostatitis, Increased circulating IgG4 level, Pancreatitis, Keratitis, I...	ORPHA:449563
Peripheral Dysostosis	Joint stiffness, Osteoarthritis	ORPHA:1795
Ehlers-Danlos Syndrome, Hypermobility Type	Joint hypermobility, Osteoarthritis, Joint dislocation, Joint laxity	OMIM:130020
Rift Valley Fever	Infectious encephalitis, Hepatitis, Anemia, Increased circulating IgG level, Melena, Uveitis, Inc...	ORPHA:319251
Progressive Osseous Heteroplasia	Osteoarthritis, Ectopic ossification in muscle tissue, Limitation of joint mobility	ORPHA:2762
Ataxia-Telangiectasia	Sinusitis, Bronchiectasis, Decreased circulating IgA level, Leukemia, Defective B cell differenti...	OMIM:208900
Beukes Hip Dysplasia	Shallow acetabular fossae, Osteoarthritis	OMIM:142669
Gamma-Heavy Chain Disease	Autoimmunity, Dysphagia, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Osteolysis, Autoim...	ORPHA:100026
Netherton Syndrome	Allergic rhinitis, Erythroderma, Decreased circulating IgG level, Increased circulating IgE level...	OMIM:256500
Bullous Impetigo	Recurrent bacterial skin infections, Pustule, Septic arthritis	ORPHA:36237
Epiphyseal Dysplasia, Multiple, 1	Hip osteoarthritis, Generalized joint laxity, Delayed epiphyseal ossification, Genu valgum, Limit...	OMIM:132400
Crimean-Congo Hemorrhagic Fever	Myocarditis, Adrenal insufficiency, Melena, Parotitis, Splenomegaly, Acute pancreatitis, Pancytop...	ORPHA:99827
Ehlers-Danlos Syndrome, Classic-Like, 2	Knee dislocation, Atrophic scars, Osteoporosis, Shoulder dislocation, Inguinal hernia, Hip disloc...	OMIM:618000
Wiskott-Aldrich Syndrome, Autosomal Dominant	Sinusitis, Absent microvilli on the surface of peripheral blood lymphocytes, Eczema, Inflammation...	OMIM:600903
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Osteoarthritis, Hip osteoarthritis	OMIM:271600
Familial Mediterranean Fever	Leukocytosis, Pericarditis, Vomiting, Peritonitis, Elevated circulating amyloid A, Arthritis, Spl...	OMIM:249100
Slipped Femoral Capital Epiphyses	Hip osteoarthritis	OMIM:182260
Myotonic Dystrophy 2	Oligospermia, Elevated circulating follicle stimulating hormone level, Decreased circulating IgG ...	OMIM:602668
Osteopetrosis, Autosomal Dominant 2	Hip osteoarthritis, Fractures of the long bones, Generalized osteosclerosis, Osteopetrosis, Bone ...	OMIM:166600
Buschke-Ollendorff Syndrome	Generalized osteosclerosis, Hyperostosis, Craniosynostosis, Arthritis, Abnormal bone structure, C...	ORPHA:1306
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
Ollier Disease	Anemia, Multiple enchondromatosis, Abnormal cartilage morphology, Joint stiffness, Osteolysis	ORPHA:296
Wiskott-Aldrich Syndrome	Eczema, Inflammation of the large intestine, Impaired lymphocyte transformation with phytohemaggl...	OMIM:301000
Morgagni-Stewart-Morel Syndrome	Osteoporosis, Acne, Hyperuricemia, Hypercholesterolemia, Hyperostosis frontalis interna, Hypothyr...	ORPHA:77296
Wild Type Abeta2M Amyloidosis	Bone cyst, Dysphagia, Arthritis, Gastrointestinal hemorrhage, Arthropathy	ORPHA:85446
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Genu varum, Abnormality of the knee, Abnormality of the epiphyses of the elbow, Genu valgum, Abno...	ORPHA:166002
Immunodeficiency 68	B lymphocytopenia, Lymphadenitis, Abscess, Septic arthritis, Recurrent skin infections, T lymphoc...	OMIM:612260
Tenosynovial Giant Cell Tumor	Synovial hypertrophy, Abnormal hip joint morphology, Chondrocalcinosis, Abnormality of the knee, ...	ORPHA:66627
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Lysinuric Protein Intolerance	Tubulointerstitial nephritis, Decreased response to growth hormone stimulation test, Decreased ci...	ORPHA:470
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Osteochondritis Dissecans, Osteoarthritis, Hip osteoarthritis	OMIM:165800
Spondyloenchondrodysplasia	Autoimmunity, Pancytopenia, Pneumonia, Systemic lupus erythematosus, Hepatitis, Arthritis, Autoim...	ORPHA:1855
Peeling Skin Syndrome 1	Increased circulating IgE level	OMIM:270300
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Cutaneous anergy, Recurrent otitis media, Decreased lymphocyte proliferation in respon...	OMIM:600802
Primary Biliary Cholangitis	Autoimmunity, Increased circulating IgA level, Abnormal circulating lipid concentration, Hepatiti...	ORPHA:186
Adiposis Dolorosa	Autoimmunity, Xerostomia, Arthritis, Recurrent skin infections, Hypothyroidism, Diarrhea, Constip...	ORPHA:36397
Primary Sjögren Syndrome	Tubulointerstitial nephritis, Normochromic anemia, Decreased circulating antibody level, Parotiti...	ORPHA:289390
Ankylosing Vertebral Hyperostosis With Tylosis	Osteoarthritis	ORPHA:2206
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Secondary Intestinal Lymphangiectasia	Autoimmunity, Decreased prealbumin level, Constrictive pericarditis, Vomiting, Decreased circulat...	ORPHA:90363
Transcobalamin Ii Deficiency	Macrocytic anemia, Neutropenia, Vomiting, Decreased circulating IgA level, Decreased circulating ...	OMIM:275350
Epiphyseal Dysplasia, Multiple, 5	Premature osteoarthritis, Delayed tarsal ossification, Delayed ossification of carpal bones, Genu...	OMIM:607078
Complement Factor I Deficiency	Sinusitis, Decreased serum complement factor H, Recurrent otitis media, Pyelonephritis, Decreased...	OMIM:610984
Rat-Bite Fever	Myocarditis, Pericarditis, Pustule, Vomiting, Endocarditis, Lymphadenitis, Oligoarthritis, Anemia...	ORPHA:31205
Pfapa Syndrome	Infectious encephalitis, Arthritis, Splenomegaly	ORPHA:42642
Epiphyseal Dysplasia, Multiple, 6	Osteoarthritis, Abnormality of the knee	OMIM:614135
Autosomal Dominant Spastic Paraplegia Type 36	Arthritis	ORPHA:320365
Alpha-Mannosidosis	Chronic otitis media, Arthritis, Splenomegaly, Synostosis of joints, Craniofacial hyperostosis, I...	ORPHA:61
Widow'S Peak Syndrome	Arthralgia/arthritis, Recurrent patellar dislocation, Hip osteoarthritis, Inguinal hernia	OMIM:314570
Spondyloepiphyseal Dysplasia Tarda	Abnormal cartilage morphology, Hip osteoarthritis, Limited shoulder movement, Knee osteoarthritis...	ORPHA:93284
Symptomatic Form Of Hemochromatosis Type 1	Abnormality of iron homeostasis, Osteoporosis, Arthritis, Elevated transferrin saturation, Spleno...	ORPHA:465508
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Joint hyperflexibility	ORPHA:63442
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Abnormality of the knee, Hip contracture, Hip osteoarthritis, Limited hip movement, Hip subluxati...	ORPHA:99642
Laron Syndrome	Hypercholesterolemia, Hypohidrosis, Osteoarthritis, Abnormality of the elbow	ORPHA:633
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Arthritis, Mildly elevated creatine kinase	ORPHA:397744
Riddle Syndrome	Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Chronic sinusitis, A...	ORPHA:420741
Shigellosis	Myocarditis, Hyponatremia, Leukocytosis, Bloody mucoid diarrhea, Splenic abscess, Bloody diarrhea...	ORPHA:810
Immunodeficiency 67	Increased circulating IgE level	OMIM:607676
Aspergillosis	Sinusitis, Infectious encephalitis, Neutropenia, Pneumonia, Bronchiectasis, Hepatitis, Osteomyeli...	ORPHA:1163
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Osteoarthritis	ORPHA:435804
Myasthenia Gravis	Dysphagia, Anti-acetylcholine receptor antibody positivity, Myositis, Systemic lupus erythematosu...	ORPHA:589
Urban-Rogers-Meyer Syndrome	Flexion contracture of toe, Osteoporosis, Increased circulating IgE level, Camptodactyly of finge...	ORPHA:3409
Peripheral Dysostosis	Hip osteoarthritis	OMIM:170700
Melioidosis	Brain abscess, Abnormality of the spleen, Splenic abscess, Lung abscess, Pneumonia, Prostatitis, ...	ORPHA:31202
Muckle-Wells Syndrome	Hernia of the abdominal wall, Episcleritis, Anemia, Arthritis, Splenomegaly, Uveitis, Skin rash, ...	ORPHA:575
Microscopic Polyangiitis	Sinusitis, Autoimmunity, Pericarditis, Episcleritis, Peritonitis, Arthritis, Pancreatitis, Increa...	ORPHA:727
Thymic Aplasia	Sinusitis, Autoimmunity, Eczematoid dermatitis, Hypocalcemic tetany, Decreased proportion of naiv...	ORPHA:83471
Osteoarthritis Susceptibility 1	Hip osteoarthritis	OMIM:165720
Congenital Disorder Of Glycosylation, Type Ia	Thrombocytosis, Vomiting, Decreased circulating IgA level, Hypocholesterolemia, Decreased circula...	OMIM:212065
Spondyloepiphyseal Dysplasia, Kimberley Type	Osteoarthritis	ORPHA:93283
Dysplasia Epiphysealis Hemimelica	Tarsal synostosis, Genu varum, Genu valgum, Joint stiffness, Recurrent fractures, Osteoarthritis	ORPHA:1822
Yao Syndrome	Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Pericarditis, Xerostomia, Arthr...	OMIM:617321
Pneumocystosis	Interstitial pneumonitis, Chronic oral candidiasis, Increased circulating antibody level, Acute i...	ORPHA:723
Takayasu Arteritis	Anemia, Arthritis, Increased inflammatory response, Inflammatory abnormality of the eye, Hyperhid...	ORPHA:3287
Progressive Pseudorheumatoid Dysplasia	Genu varum, Osteoporosis, Enlarged interphalangeal joints, Joint contracture of the hand, Camptod...	OMIM:208230
Osteopetrosis, Autosomal Recessive 7	Hypocalcemic seizures, Decreased circulating IgA level, Decreased circulating IgG level, Osteopet...	OMIM:612301
Thrombocytopenia 1	Eczema, Increased circulating IgA level, Decreased mean platelet volume, Joint hemorrhage, Interm...	OMIM:313900
Felty Syndrome	Rheumatoid arthritis, Neutropenia, Splenomegaly	OMIM:134750
Hypochondroplasia	Genu varum, Joint hyperflexibility, Osteoarthritis, Abnormality of the elbow	ORPHA:429
Alg12-Cdg	Hyponatremia, B lymphocytopenia, Complete or near-complete absence of specific antibody response ...	ORPHA:79324
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Hip osteoarthritis	OMIM:619248
Spondyloepimetaphyseal Dysplasia, Irapa Type	Abnormal joint morphology, Osteoporosis, Synostosis of carpal bones, Genu valgum, Limitation of j...	ORPHA:93351
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level	ORPHA:99965
Eosinophilic Granulomatosis With Polyangiitis	Sinusitis, Autoimmunity, Myocarditis, Dysphagia, Tubulointerstitial nephritis, Endocarditis, Myos...	ORPHA:183
Wiskott-Aldrich Syndrome	Sinusitis, Autoimmunity, Eczema, Inflammation of the large intestine, Neutropenia, Abnormal plate...	ORPHA:906
Sjogren Syndrome	Keratoconjunctivitis sicca, Autoimmunity, Tubulointerstitial nephritis, Xerostomia, Rheumatoid ar...	OMIM:270150
Say-Barber-Miller Syndrome	Abnormal T cell morphology, Eczema, Recurrent patellar dislocation, Transient hypogammaglobulinem...	ORPHA:3132
Psoriasis 1, Susceptibility To	Psoriasiform dermatitis, Arthritis	OMIM:177900
Fusariosis	Sinusitis, Brain abscess, Abnormality of the spleen, Neutropenia, Lung abscess, Pneumonia, Bronch...	ORPHA:228119
Juvenile Dermatomyositis	Autoimmunity, Dysphagia, Calcinosis, Pericarditis, Myositis, Elevated circulating creatine kinase...	ORPHA:93672
Mucopolysaccharidosis-Plus Syndrome	Neutropenia, Leukopenia, Nephritis, Bone marrow hypocellularity, Anemia, Splenomegaly, Recurrent ...	OMIM:617303
Periodic Fever, Familial, Autosomal Dominant	Polyarticular arthritis, Chronic constipation, Vomiting, Myositis, Oligoarthritis, Chronic diarrh...	OMIM:142680
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Joint stiffness, Osteoarthritis	ORPHA:1345
Combined Immunodeficiency Due To Zap70 Deficiency	Pneumonia, Stomatitis, Lymphadenopathy, Lymphadenitis, Chronic oral candidiasis, Decreased lympho...	ORPHA:911
Systemic Sclerosis	Myocarditis, Dysphagia, Pericarditis, Glomerulonephritis, Elevated circulating creatine kinase co...	ORPHA:90291
Moderate Hemophilia A	Synovitis, Hip contracture, Joint hemorrhage, Cartilage destruction, Gastrointestinal hemorrhage,...	ORPHA:169805
Wilson Disease	High nonceruloplasmin-bound serum copper, Hypoparathyroidism, Chondrocalcinosis, Dysphagia, Osteo...	OMIM:277900
Encephalitis Lethargica	Autoimmunity, Increased circulating antibody level, Stiff neck, Bowel incontinence	ORPHA:83600
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Premature osteoarthritis	OMIM:184840
Whipple Disease	Myocarditis, Hyponatremia, Infectious encephalitis, Pericarditis, Myositis, Anemia, Arthritis, Sp...	ORPHA:3452
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmunity, Neutropenia, Pneumonia, Systemic lupus erythematosus, Recurrent otitis media, Joint...	OMIM:607944
Familial Cold Urticaria	Arthritis, Hyperhidrosis, Conjunctivitis	ORPHA:47045
Igg4-Related Retroperitoneal Fibrosis	Anti-thyroid peroxidase antibody positivity, Psoriasiform dermatitis, Deep dermal perivascular in...	ORPHA:49041
Diffuse Cutaneous Systemic Sclerosis	Autoimmunity, Dysphagia, Xerostomia, Arthritis, Flexion contracture, Gastroesophageal reflux, Ost...	ORPHA:220393
Spondyloepiphyseal Dysplasia, Nishimura Type	Osteoarthritis, Delayed epiphyseal ossification	OMIM:618618
Cryoglobulinemic Vasculitis	Keratoconjunctivitis sicca, Cryoglobulinemia, Arthritis, Circulating immune complexes, Splenomega...	ORPHA:91138
Bloom Syndrome	Bronchiectasis, Decreased circulating IgA level, Leukemia, Decreased circulating IgG level, Malar...	OMIM:210900
Mevalonic Aciduria	Fluctuating splenomegaly, Leukocytosis, Increased circulating IgD level, Elevated circulating C-r...	OMIM:610377
Severe Hemophilia A	Limb joint contracture, Synovitis, Joint hemorrhage, Anemia, Gastrointestinal hemorrhage, Limitat...	ORPHA:169802
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Hyperammonemia, Uveitis, Maculopapular exanthema, Diarrhea...	ORPHA:99826
Multiple Epiphyseal Dysplasia, Beighton Type	Abnormal acetabulum morphology, Abnormal hip joint morphology, Genu valgum, Limitation of joint m...	ORPHA:166011
Immunodeficiency 47	Decreased circulating total IgA, Decreased circulating copper concentration, Decreased circulatin...	OMIM:300972
Paget Disease Of Bone 6	Recurrent fractures, Osteoarthritis	OMIM:616833
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Osteoarthritis	ORPHA:166100
Ulnar Hemimelia	Limited elbow flexion, Abnormal calcification of the carpal bones, Abnormality of the humeroulnar...	ORPHA:93320
Pachydermoperiostosis	Eczematoid dermatitis, Genu varum, Seborrheic dermatitis, Osteoporosis, Acne, Arthritis, Anemia, ...	ORPHA:2796
Tubulointerstitial Nephritis And Uveitis Syndrome	Reduced hematocrit, Tubulointerstitial nephritis, Posterior uveitis, Normocytic anemia, Elevated ...	ORPHA:91500
Hereditary Spherocytosis	Gout, Hyperbilirubinemia, Anemia, Splenomegaly, Maculopapular exanthema, Extramedullary hematopoi...	ORPHA:822
Poems Syndrome	Thrombocytosis, Sclerosis of foot bone, Polycythemia, Lipodystrophy, Sclerosis of hand bone, Prim...	ORPHA:2905
Spondylosis, Cervical	Osteoarthritis	OMIM:184300
Bloom Syndrome	Acute lymphoblastic leukemia, Abnormal proportion of CD8-positive T cells, Pneumonia, Decreased c...	ORPHA:125
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Eczematoid dermatitis, Seborrheic dermatitis, Osteoporosis, Wormian bones, Arthritis, Osteopenia,...	OMIM:259100
Hereditary Xanthinuria	Hypouricemia, Hyperxanthinemia, Gout, Rheumatoid arthritis, Arthropathy	ORPHA:3467
Vici Syndrome	Joint stiffness, Decreased circulating IgG level, Decreased circulating IgG2 level	ORPHA:1493
Localized Scleroderma	Autoimmunity, Sclerosis of finger phalanx, Progressive loss of facial adipose tissue, Fasciitis, ...	ORPHA:90289
Wilson Disease	Hepatitis, Anemia, Arthritis, Acute hepatitis, Splenomegaly, Pathologic fracture, Thrombocytopeni...	ORPHA:905
Spondyloepimetaphyseal Dysplasia, Irapa Type	Osteoarthritis, Limited elbow extension, Capitate-hamate fusion, Genu valgum	OMIM:271650
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Omphalocele, Carpal osteolysis, Osteolysis involving bones of the lower limbs, Osteolysis involvi...	ORPHA:371428
Nail-Patella Syndrome	Abnormality of the knee, Cubitus valgus, Reduced bone mineral density, Contracture of the distal ...	ORPHA:2614
Netherton Syndrome	Eczema, Erythroderma, Decreased circulating antibody level, Increased circulating IgE level, Skin...	ORPHA:634
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre...	ORPHA:508533
Gaucher Disease	Dysphagia, Elevated circulating C-reactive protein concentration, Hepatitis, Anemia, Arthrogrypos...	ORPHA:355
Mucopolysaccharidosis, Type Ix	Chondrocalcinosis, Popliteal synovial cyst, Recurrent otitis media, Acetabular erosions, Periarti...	OMIM:601492
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Gout, Arthritis, Hyperuricemia, Hyperuricosuria	ORPHA:411543
Cystic Echinococcosis	Bone cyst, Splenic cyst, Peritoneal abscess, Membranous nephropathy, Abscess, Hyperbilirubinemia,...	ORPHA:400
Multiple Epiphyseal Dysplasia Type 5	Abnormal acetabulum morphology, Genu varum, Abnormal hip joint morphology, Delayed proximal femor...	ORPHA:93311
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmunity, B lymphocytopenia, Interstitial pneumonitis, Neutropenia in presence of anti-neutro...	ORPHA:231154
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Keratitis, Abnormality of the wrist, Osteoarthritis, Osteolysis	ORPHA:1657
Vertical Talus, Congenital	Arthritis	OMIM:192950
Lead Poisoning	Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Decreased HDL cholesterol concentrat...	ORPHA:330015
Stickler Syndrome Type 1	Osteoarthritis, Joint hyperflexibility	ORPHA:90653
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Hyperuricosuria, Arthritis, Hyperuricemia	ORPHA:411536
Congenital Pseudoarthrosis Of The Clavicle	Osteoarthritis	ORPHA:66630
Infection-Related Hemolytic Uremic Syndrome	Hyperkalemia, Hyponatremia, Myocarditis, Increased circulating interleukin 6, Brain abscess, Leuk...	ORPHA:544482
Intermittent Hydrarthrosis	Joint swelling, Chondrocalcinosis, Abnormality of the knee, Knee joint hypermobility	ORPHA:329967
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Genu varum, Neutropenia, Laryngotracheomalacia, Congenital hypothyroidism, Decreased circulating ...	OMIM:271510
Hypophosphatemic Rickets, X-Linked Dominant	Enamel hypomineralization, Hypophosphatemia, Osteomalacia, Osteoarthritis, Hypophosphatemic rickets	OMIM:307800
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Decr...	ORPHA:79329
Lyme Disease	Joint swelling, Uveitis, Infectious encephalitis, Arthritis	ORPHA:91546
Alkaptonuria	Prostatitis, Joint dislocation, Arthritis, Cartilage destruction, Calcification of cartilage, Red...	ORPHA:56
Desbuquois Dysplasia 1	Genu varum, Osteoporosis, Radioulnar dislocation, Joint dislocation, Advanced ossification of car...	OMIM:251450
Whim Syndrome	Sinusitis, Neutropenia, Pneumonia, Bronchiectasis, Lymphadenitis, Decreased circulating antibody ...	ORPHA:51636
Vici Syndrome	Cutaneous anergy, Decreased circulating IgG level, Chronic mucocutaneous candidiasis, Decreased T...	OMIM:242840
Trichothiodystrophy 1, Photosensitive	Keratoconjunctivitis sicca, Erythroderma, Decreased circulating IgG level, Absence of subcutaneou...	OMIM:601675
Kniest Dysplasia	Hip contracture, Recurrent otitis media, Delayed epiphyseal ossification, Inguinal hernia, Hip di...	OMIM:156550
Roifman-Chitayat Syndrome	Umbilical hernia, Arthritis, Pneumonia, Osteopenia	OMIM:613328
Diverticulosis, Small-Intestinal	Rheumatoid arthritis, Thyroiditis, Ulcerative colitis	OMIM:223320
Congenital Analbuminemia	Hypoproteinemia, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Increased circulating antib...	ORPHA:86816
Reynolds Syndrome	Keratoconjunctivitis sicca, Dysphagia, Infectious encephalitis, Xerostomia, Arthritis, Skin rash,...	ORPHA:779
Blau Syndrome	Eczema, Pericarditis, Synovitis, Flexion contracture of toe, Arthritis, Nongranulomatous uveitis,...	OMIM:186580
Familial Isolated Hyperparathyroidism	Hypercalcemia, Chondrocalcinosis, Hypophosphatemia, Osteopenia, Primary hyperparathyroidism, Infa...	ORPHA:99879
Achalasia, Familial Esophageal	Keratoconjunctivitis sicca, Achalasia, Rheumatoid arthritis, Xerostomia	OMIM:200400
Phosphoribosylpyrophosphate Synthetase Superactivity	Hyperuricosuria, Gout, Hyperuricemia	OMIM:300661
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Gout, Hyperuricemia	ORPHA:79233
Sarcoidosis, Susceptibility To, 1	Bone cyst, Inflammation of the large intestine, Bronchiectasis, Arthritis, Splenomegaly, Increase...	OMIM:181000
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Leukopenia, Decreased circulating IgG level, Bone marrow hypocellularity, Anemia, Hernia, Hepatos...	ORPHA:505248
Scedosporiosis	Sinusitis, Arthralgia/arthritis, Pericarditis, Pneumonia, Endocarditis, Septic arthritis, Osteomy...	ORPHA:449280
Hemophilia B	Gastrointestinal hemorrhage, Joint hemorrhage, Osteoarthritis	OMIM:306900
Rheumatic Fever	Sinusitis, Myocarditis, Pericarditis, Endocarditis, Arthritis, Constipation	ORPHA:3099
Idiopathic Camptocormia	Abnormal inflammatory response, Myositis, Elevated circulating creatine kinase concentration, Mye...	ORPHA:1320
Pseudoachondroplasia	Limited hip extension, Genu varum, Irregular carpal bones, Delayed epiphyseal ossification, Genu ...	OMIM:177170
Meige Disease	Recurrent bacterial skin infections, Recurrent skin infections, Absence of lymph node germinal ce...	ORPHA:90186
Hemophilia A	Joint hemorrhage, Osteoarthritis	OMIM:306700
Infantile Myofibromatosis	Hypercalcemia, Bone cyst, Chondrocalcinosis, Intestinal obstruction, Limitation of joint mobility...	ORPHA:2591
Listeriosis	Myocarditis, Brain abscess, Septic arthritis, Granulomatosis, Diarrhea, Liver abscess, Conjunctiv...	ORPHA:533
Ehlers-Danlos Syndrome, Classic Type, 1	Umbilical hernia, Hyperextensibility of the finger joints, Cigarette-paper scars, Hyperextensibil...	OMIM:130000
Larsen-Like Syndrome, Lethal Type	Multiple joint dislocation, Joint dislocation, Tracheomalacia, Abnormal cartilage matrix	OMIM:245650
Alveolar Echinococcosis	Cholangitis, Bone cyst, Vomiting, Anemia, Abnormal spleen morphology, Increased circulating antib...	ORPHA:284
Aicardi-Goutières Syndrome	Autoimmunity, Chronic lymphatic leukemia, Myositis, Panniculitis, Arthritis, Hepatosplenomegaly, ...	ORPHA:51
Mogs-Cdg	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ...	ORPHA:79330
Dubowitz Syndrome	Eczema, Acute lymphoblastic leukemia, Decreased circulating IgA level, Decreased circulating IgG ...	OMIM:223370
Lassa Fever	Dysphagia, Diarrhea, Increased circulating IgM level, Conjunctivitis	ORPHA:99824
Hypophosphatasia, Adult	Chondrocalcinosis, Rickets, Increased susceptibility to fractures, Pathologic fracture, Osteomala...	OMIM:146300
Glycogen Storage Disease Ib	Neutropenia, Hyperlipidemia, Osteoporosis, Gout, Pancreatitis, Hyperuricemia	OMIM:232220
Hemophilia A With Vascular Abnormality	Gastrointestinal hemorrhage, Joint hemorrhage, Osteoarthritis	OMIM:306800
Lymphoid Interstitial Pneumonia	Keratoconjunctivitis sicca, Autoimmunity, Eczema, Bronchiectasis, Abnormality of connective tissu...	ORPHA:79128
Medullary cystic kidney disease 2	Tubulointerstitial nephritis, Gout, Hyperuricemia	OMIM:603860
Idiopathic Hypereosinophilic Syndrome	Cholangitis, Eczema, Splenomegaly, Hepatosplenomegaly, Eosinophilia, Inflammatory abnormality of ...	ORPHA:3260
Gaucher Disease Type 3	Increased susceptibility to fractures, Anemia, Splenomegaly, Increased circulating antibody level...	ORPHA:77261
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations	Genu varum, Laryngotracheomalacia, Multiple joint dislocation, Generalized joint laxity, Abnormal...	ORPHA:93360
Kid Syndrome	Keratoconjunctivitis sicca, Psoriasiform dermatitis, Folliculitis, Recurrent cutaneous abscess fo...	ORPHA:477
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Chronic neutropenia, Inflammation of the large intestine, Hyperlipidemia, Abnormal myeloid leukoc...	ORPHA:79259
Primary Sclerosing Cholangitis	Autoimmunity, Hepatitis, Osteoporosis, Pancreatitis, Splenomegaly, Osteopenia, Hepatosplenomegaly...	ORPHA:171
Farber Disease	Abnormality of the knee, Abnormality of the elbow, Osteoporosis, Anemia, Arthritis, Abnormality o...	ORPHA:333
Gaisböck Syndrome	Hyperproteinemia, Increased red blood cell count, Gout, Hyperuricemia, Hypercholesterolemia, Hype...	ORPHA:90041
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Arthritis, Cervical subluxation	OMIM:184100
Al Amyloidosis	Dysphagia, Xerostomia, Anemia, Gastroparesis, Increased circulating NT-proBNP concentration, Incr...	ORPHA:85443
Autosomal Dominant Dopa-Responsive Dystonia	Progressive flexion contractures, Hypothyroidism, Rheumatoid arthritis, Transient hyperphenylalan...	ORPHA:98808
Familial Hypocalciuric Hypercalcemia	Hypercalcemia, Autoimmunity, Chondrocalcinosis, Hypocalcemic seizures, Pancreatitis, Infantile hy...	ORPHA:405
Japanese Encephalitis	Hyponatremia, Stiff neck, Infectious encephalitis, Vomiting, Genu recurvatum, Neutrophilia, Incre...	ORPHA:79139
Relapsing Polychondritis	Myocarditis, Pericarditis, Episcleritis, Chondritis of pinna, Chondritis, Hepatitis, Arthritis, K...	ORPHA:728
Viss Syndrome	Eczema, Recurrent joint dislocation, Umbilical hernia, Joint hypermobility, Hip dislocation, Chro...	OMIM:619472
Scleromyxedema	Dysphagia, Elevated circulating creatine kinase concentration, Paraproteinemia, Hypoperistalsis, ...	ORPHA:167635
Glycogen Storage Disease Ia	Hyperlipidemia, Osteoporosis, Gout, Pancreatitis, Hyperuricemia, Intermittent diarrhea	OMIM:232200
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Gout, Hyperchol...	ORPHA:412
Otospondylomegaepiphyseal Dysplasia	Abnormal joint morphology, Osteoarthritis, Limitation of joint mobility, Enlarged joints, Abnorma...	ORPHA:1427
Alkaptonuria	Vertebral fusion, Intervertebral disc degeneration, Arthritis, Limited hip movement, Limited shou...	OMIM:203500
Dowling-Degos Disease	Acne inversa, Arthritis	ORPHA:79145
Familial Mediterranean Fever	Pericarditis, Peritonitis, Arthritis, Pancreatitis, Splenomegaly, Intestinal obstruction, Skin ra...	ORPHA:342
Yellow Fever	Leukocytosis, Increased circulating interleukin 6, Vomiting, Nausea, Elevated circulating creatin...	ORPHA:99829
Congenital Tufting Enteropathy	Vomiting, Arthritis, Punctate keratitis, Chronic diarrhea, Steatorrhea, Secretory diarrhea	ORPHA:92050
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypercalcemia, Chondrocalcinosis, Hypophosphatemia, Pancreatitis, Primary hyperparathyroidism, Hy...	OMIM:600740
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Tubulointerstitial nephritis, Elevated circulating creatinine concentration, Anemia, Gout, Hyperu...	OMIM:174000
Blau Syndrome	Abnormal inflammatory response, Polyarticular arthritis, Pericarditis, Synovitis, Posterior uveit...	ORPHA:90340
22Q11.2 Deletion Syndrome	Autoimmunity, Chronic otitis media, Hypoplasia of the thymus, Abnormal dental enamel morphology, ...	ORPHA:567
Spondylometaphyseal Dysplasia, Kozlowski Type

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