Not currently registered for phenotyping at IMPC

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

Gene Summary

C-type lectin domain family 4, member a2
Dcir1,  dendritic cell immunoreceptor,  Clecsf6,  DCIR

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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.

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 Similarity of
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Myocarditis, Hyponatremia, Leukocytosis, Bloody mucoid diarrhea, Splenic abscess, Bloody diarrhea... ORPHA:810
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
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
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
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
Genu varum, Joint hyperflexibility, Osteoarthritis, Abnormality of the elbow ORPHA:429
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
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
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
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Decr... ORPHA:79329
Lyme Disease
Joint swelling, Uveitis, Infectious encephalitis, Arthritis ORPHA:91546
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
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
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
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
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
Dysphagia, Elevated circulating creatine kinase concentration, Paraproteinemia, Hypoperistalsis, ... ORPHA:167635
Glycogen Storage Disease Ia
Hyperlipidemia, Osteoporosis, Gout, Pancreatitis, Hyperuricemia, Intermittent diarrhea OMIM:232200
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
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