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Gene: Clec4a2 MGI:1349412

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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.

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
phenotypes		 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
Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ... OMIM:608106
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,... OMIM:618982
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Bronchiectasis, Lymphadenopathy, Increased circulating IgG level, Incre... OMIM:619220
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... OMIM:615897
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Abnormality of the knee, Psoriasiform dermatitis, Skin rash, Generalized mornin... ORPHA:85436
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Immunodeficiency 27A
Increased inflammatory response, Rheumatoid factor positive, Pneumonia, Splenomegaly, Leukocytosi... OMIM:209950
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Polyarticular arthritis, Increased circulating antibody level, Histiocy... OMIM:235900
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Ankle swelling, Joint stiffness, Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthri... ORPHA:85408
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Eczema, Autoimmunity, Abnormal immunoglobulin level, Increased T cell count, Increase... ORPHA:98813
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral ... OMIM:619773
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... OMIM:605258
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, Eo... OMIM:601859
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Elevated circulating C... OMIM:618048
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... OMIM:603909
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... OMIM:618944
Complement Component C1R/C1S Deficiency
Autoimmunity, Discoid lupus rash, Arthritis, Complement deficiency, Nephritis OMIM:216950
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Autoimmunity, Splenomegaly, Diar... OMIM:618495
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Rheumatoid factor positive, Elevated circulating C-reactive ... ORPHA:85435
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
C1Q Deficiency 2
Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Elevated circulating C-react... OMIM:620321
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Abno... ORPHA:793
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ... OMIM:247800
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level OMIM:242870
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... ORPHA:169154
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Elevated circulating C-reactive... OMIM:615559
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis OMIM:162700
Kimura Disease
Abnormal salivary gland morphology, Increased circulating IgE level, Lymphadenopathy, Follicular ... ORPHA:482
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Igg4-Related Aortitis
Increased inflammatory response, Intestinal obstruction, Autoimmunity, Increased circulating IgG4... ORPHA:449400
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus,... ORPHA:411593
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Glomerulonephritis, Autoimmunity, Elevated circulating creatinine concentration, Synov... ORPHA:567544
Chilblain Lupus
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid... ORPHA:90280
Immunodeficiency 109 With Lymphoproliferation
Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti-CD3, Splenome... OMIM:620282
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Anti-thyroid peroxidase antibody p... ORPHA:277
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Diarrhea, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocyt... OMIM:601457
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Bronchiectasis, Lymphadenopathy, Increased circulating IgM level, Decreased circula... OMIM:615513
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Liver kidney microsome type 1 antibody positivity, ... ORPHA:2137
Osteochondrosis Of The Tarsal Bone
Arthritis, Tarsal sclerosis, Tarsal stippling, Chondritis, Abnormal tarsal ossification, Osteocho... ORPHA:563991
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... OMIM:614699
Severe Combined Immunodeficiency, X-Linked
Skin rash, Pneumonia, Reduced natural killer cell activity, Recurrent pneumonia, Agammaglobulinem... OMIM:300400
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Bronchiectasis, Decreased ci... OMIM:618459
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Myositis, Antiphospholipid antibody positivity, Skin rash, Rheumatoid factor positiv... OMIM:615934
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H... OMIM:301082
Immunodeficiency 61
Decreased circulating IgG4 level, Agammaglobulinemia, Arthritis, Decreased circulating total IgM,... OMIM:300310
X-Linked Hypophosphatemia
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limita... ORPHA:89936
Activated Pi3K-Delta Syndrome
Pneumonia, Autoimmunity, Splenomegaly, Bronchiectasis, Decreased circulating antibody level, Arth... ORPHA:397596
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Immunodeficiency, Common Variable, 2
Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectas... OMIM:240500
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Increased cir... OMIM:617388
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent otitis media,... OMIM:613502
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Reduced isohemagglutinin level, Conjunctivitis, Chronic decrease... OMIM:613493
Enthesitis-Related Juvenile Idiopathic Arthritis
Abnormality of the fascia, Anterior uveitis, Knee osteoarthritis, Oligoarthritis, Abnormality of ... ORPHA:85438
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Cervical lymphadenopathy, Decreased circulating IgG level OMIM:618987
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob... OMIM:617780
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... ORPHA:289176
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Abnormally low T cell receptor excision circle level, Decrea... ORPHA:276
Reactive Arthritis
Pericarditis, Osteomyelitis, Joint stiffness, Pustule, Cartilage destruction, Diarrhea, Enthesiti... ORPHA:29207
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eczema, Eosinophilic infiltration of the esophagus, Eosinophilia, Recurrent pneumonia, Increased ... OMIM:243700
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,... OMIM:619924
Pgm3-Cdg
Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, ... ORPHA:443811
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Inc... ORPHA:3261
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Au... OMIM:616100
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased circulating total IgM, Recurrent sinusitis, Decreased specific... OMIM:617765
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased circulating total IgM, Gonadal dysgenesis, Abnormal thymus ... OMIM:611926
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Thrombocytosis, Elevated circulating C-reactive protein concentration, Microc... OMIM:604416
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Chronic di... OMIM:619281
Whim Syndrome 1
Decreased circulating IgG level, Bronchiectasis, Decreased circulating antibody level, Abnormalit... OMIM:193670
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulat... OMIM:612692
Schnitzler Syndrome
Increased bone mineral density, Skin rash, Splenomegaly, Leukocytosis, Arthritis, Increased circu... ORPHA:37748
Immunodeficiency, Common Variable, 1
Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphaden... OMIM:607594
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Autoimmunity... OMIM:617006
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Increased inflammatory response, Autoimmunity, Protrusio acetabuli, Knee osteoarthrit... ORPHA:2619
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Eczema, Chronic diarrhea, Oligoarthritis, Decreased circulating total IgM, T lymphoc... OMIM:619510
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, D... ORPHA:275
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Arthritis, Progressive joint ... ORPHA:564003
Chikungunya
Maculopapular exanthema, Skin rash, Joint stiffness, Erythema nodosum, Diarrhea, Crusting erythem... ORPHA:324625
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating total IgM, Recurrent sinusitis, Decreased circulating I... OMIM:619707
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Increased c... ORPHA:69126
Immunodeficiency, Common Variable, 11
Mucoid diarrhea, Increased circulating IgE level, Decreased proportion of class-switched memory B... OMIM:615767
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae ORPHA:50809
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Perinuclear antineutrophil antibody positivity, Chronic diarrhea, Bro... OMIM:618394
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, Monocyto... OMIM:614470
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Joint dislocation, Lymphopenia, Recurrent skin infections, Joint stiffness, Splenomegaly, Reduced... OMIM:620210
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur... OMIM:619824
Epiphyseal Dysplasia, Multiple, 3
Abnormal hip joint morphology, Elevated circulating creatine kinase concentration, Osteoarthritis... OMIM:600969
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Immunodeficiency 50
Lymphopenia, Neutropenia, Eczema, Decreased circulating antibody level OMIM:300988
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Autoimmunity, Elevated circulating C-reactive protein ... OMIM:613011
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ... OMIM:212050
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Arthropathy, Eczema, Eosinophilia, Craniosynostosis, Keratitis, Increased circulating IgE level, ... OMIM:618523
Glycoprotein Storage Disease
Splenomegaly, Gout OMIM:232900
Boutonneuse Fever
Skin rash, Maculopapular exanthema, Diarrhea, Increased circulating IgG level, Increased circulat... ORPHA:83313
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Lymphopenia, Pneumonia, Eosinophilia, Diarrhea, Recurrent pneumonia, He... ORPHA:169160
Immunodeficiency 23
Hemolytic anemia, Membranoproliferative glomerulonephritis, Rheumatoid factor positive, Allergic ... OMIM:615816
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis OMIM:609655
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulcerative colitis... OMIM:617638
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Decreased c... OMIM:618261
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Skin rash, Autoimmune hemolytic anemia... ORPHA:331206
Subcorneal Pustular Dermatosis
Hyperthyroidism, Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antib... ORPHA:48377
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Hypothyr... OMIM:304790
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Elevated circulating C-reactive protein concentration, Erythema nodosum, Splenomegaly,... OMIM:611762
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactive protein conc... OMIM:308240
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Abnormal ... ORPHA:90159
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Autoimmunity, Splenomegaly, Chronic diarrhea, Bronchiectasis, Chronic lymphatic leuk... OMIM:616005
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Autoimmunity, Thrombo... ORPHA:47
Myeloma, Multiple
Paraproteinemia OMIM:254500
Congenital Atransferrinemia
Arthritis, Hypothyroidism, Anemia ORPHA:1195
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Subacute Inflammatory Demyelinating Polyneuropathy
Limitation of movement at ankles, Leukocytosis, Increased circulating IgG level, Limited elbow fl... ORPHA:206594
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Genital ulcers, Splenomegaly, Incr... OMIM:602450
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy... ORPHA:562639
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level, Episodic vomiting OMIM:618973
Macrophage Activation Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce... ORPHA:158061
Brucellosis
Liver abscess, Rheumatoid factor positive, Elevated circulating C-reactive protein concentration,... ORPHA:1304
Immunodeficiency 92
Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Chronic diarrhea, Decreased proportion of cl... OMIM:619652
Immunodeficiency 43
Hypoproteinemia, Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Ab... OMIM:241600
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Recurrent skin infections, Recurrent pneumonia, Increased circulating IgE level, Ato... OMIM:619752
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Skin rash, Eosinophilia, Recurrent fractures, Craniosynostosis, Recurrent pneumonia, ... OMIM:147060
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Abnormality of neutrophil... ORPHA:229717
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Decrea... OMIM:614700
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level ORPHA:90000
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr... ORPHA:85410
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... OMIM:152700
Immunodeficiency 32B
Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Thrombocytopenia, Splenomegaly, Bronchiectasis,... OMIM:226990
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Autoimmune hemolytic anemia, Antineutrophil antibody positivity, Splenomegaly, Neu... OMIM:301078
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level OMIM:609529
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Increased circulating antibody lev... ORPHA:100024
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Increased circulating IgA level OMIM:314000
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... ORPHA:331235
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Diarrhea, Bronchiectasis, Hepatit... ORPHA:33110
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Antinuclear antibody positivity, Arthritis, Crescentic glomerulonephritis, Elevated circulating C... OMIM:616414
Felty Syndrome
Episcleritis, Pericarditis, Sinusitis, Autoimmunity, Thrombocytopenia, Splenomegaly, Recurrent pn... ORPHA:47612
Immunodeficiency 22
Pericarditis, Abscess, Autoimmunity, Thrombocytopenia, Diarrhea, Protracted diarrhea, Decreased c... OMIM:615758
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased ... OMIM:617241
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Bronchiectasis, Impaired Ig class switch recombination, Absence of lymph node germ... OMIM:608184
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Atrophic scars, Increased circulating ant... ORPHA:48104
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri... ORPHA:91139
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Pneumonia, Pure... ORPHA:436159
Adult-Onset Still Disease
Pericarditis, Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Car... ORPHA:829
Vexas Syndrome
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... OMIM:301054
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Recurrent aphthous stoma... ORPHA:2688
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertriglyceridemia, Osteoporosis, Gout OMIM:610947
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Elevated circulating C-reactive protein concentration, Leukocytosis, Uveitis, Arthriti... OMIM:120100
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Arthritis, Increas... OMIM:604250
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Impaired Ig class switch recombination, Absence of lymph node germinal cent... OMIM:308230
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune... ORPHA:572
Immunodeficiency, Common Variable, 10
Psoriasiform dermatitis, Decreased response to growth hormone stimulation test, Anti-thyroid pero... OMIM:615577
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Monocytopenia, Lymphopenia, Pancytopenia, D... OMIM:618986
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, Recurrent pneumonia, Increased ci... OMIM:618282
Cinca Syndrome
Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Pat... OMIM:607115
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... ORPHA:217390
Dracunculiasis
Recurrent cutaneous abscess formation, Skin rash, Diarrhea, Flexion contracture, Limitation of jo... ORPHA:231
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Hypertriglyceridemia, Acne, Recurrent skin infections, Aplastic anemia, Erythema no... OMIM:300635
Zika Virus Disease
Maculopapular exanthema, Skin rash, Ankle swelling, Wrist swelling, Thrombocytopenia, Arthritis, ... ORPHA:448237
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Skin rash, Pneumonia, Decreased circulating complement ... ORPHA:2298
Angiostrongyliasis
Stiff neck, Projectile vomiting, Increased circulating IgA level, Hypereosinophilia, Increased ci... ORPHA:74
Familial Calcium Pyrophosphate Deposition
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Calci... ORPHA:1416
Eng-Strom Syndrome
Arthritis, Camptodactyly of finger ORPHA:1937
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Diarrhea, Decreased circulating antibody level, Decreased circulating total IgM, B lym... OMIM:614069
Cernunnos-Xlf Deficiency
Autoimmunity, Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lympho... ORPHA:169079
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Lymphopenia, Eosinophilia, Limitation of joint mobility ORPHA:2582
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobuli... OMIM:619705
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Leukopenia, Incre... OMIM:615285
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased circulating antibody level, Lymphadenopathy, Follicu... OMIM:619846
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Autoimmune thrombocytopenia, Chronic decreased circulating total IgG, Complet... OMIM:613496
Overlap Myositis
Subluxation of the small joints of the hand, Elevated circulating creatine kinase concentration, ... ORPHA:206572
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Agammaglob... OMIM:300755
Immunodeficiency 15B
Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decrease... OMIM:615592
Proteasome-Associated Autoinflammatory Syndrome 3
Myositis, Sinusitis, Skin rash, Hypertriglyceridemia, Lipodystrophy, Thrombocytopenia, Splenomega... OMIM:617591
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps... ORPHA:183675
Osteoarthritis Susceptibility 3
Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Joint stiffness, Osteoarthrit... OMIM:607850
Multicentric Reticulohistiocytosis
Arthritis, Histiocytosis ORPHA:139436
Tularemia
Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adenoid morphology, Cervical lymp... ORPHA:3392
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Elevated circulating C-reactive protein concentration, Rheu... ORPHA:79099
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Lipodystrophy, Elevated circulating C-reactive protein concentration, In... OMIM:617099
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Joint dislocation, Osteomyelitis, Recurrent fractures, Mandibular ... ORPHA:53
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Anti-thyroid peroxidase antibody positivity, Secretory diarrhea, Abnormal blood ion con... ORPHA:37042
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Elevated circulating C-reactive protein ... ORPHA:324964
Kienbock Disease
Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist ORPHA:97332
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Abnormal lymphocyte proliferation, Abnormal lympho... ORPHA:99867
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Igg4-Related Thyroid Disease
Autoimmunity, Increased circulating IgG4 level, Anti-thyroid peroxidase antibody positivity, Thyr... ORPHA:64744
Mucopolysaccharidosis, Type Ix
Hyperextensibility at elbow, Acetabular erosions, Periarticular soft-tissue mass, Synovitis, Hype... OMIM:601492
Igg4-Related Submandibular Gland Disease
Cholangitis, Increased circulating IgG4 level, Eosinophilia, Autoimmunity, Increased circulating ... ORPHA:449432
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczema, Thyroiditis OMIM:618985
Immunodeficiency 96
Eczema, Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T... OMIM:619774
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C... OMIM:606367
Idiopathic Chronic Eosinophilic Pneumonia
Autoimmunity, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circ... ORPHA:2902
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Lipodystrophy, Autoimmunity, Paraproteinemia, Elevated ... ORPHA:329918
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Decreased circulating antibody level, Lymphadenopathy, Abnormal natural killer cell... OMIM:613101
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Rhinitis, Increas... ORPHA:507
Hemochromatosis, Type 2A
Splenomegaly, Arthritis, Increased serum iron, Increased circulating ferritin concentration OMIM:602390
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Elevated circulating C-reactive protein ... ORPHA:85414
Chondrocalcinosis 2
Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis OMIM:118600
Caffey Disease
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase... ORPHA:1310
Systemic Lupus Erythematosus, Susceptibility To, 6
Pericarditis, Antinuclear antibody positivity, Systemic lupus erythematosus, Arthritis, Malar rash OMIM:609939
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... ORPHA:555905
Catastrophic Antiphospholipid Syndrome
Antiphospholipid antibody positivity, Anticardiolipin IgG antibody positivity, Myocarditis, Syste... ORPHA:464343
Legg-Calvé-Perthes Disease
Joint dislocation, Cartilage destruction ORPHA:2380
Autoimmune Polyendocrinopathy Type 4
Osteopenia, Atrophic gastritis, Xerostomia, Tubulointerstitial nephritis, Leukopenia, Hashimoto t... ORPHA:227990
Pediatric Systemic Lupus Erythematosus
Lymphopenia, Myositis, Antiphospholipid antibody positivity, Skin rash, Discoid lupus rash, Antin... ORPHA:93552
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... OMIM:618213
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Decreased circulating IgG level OMIM:152800
Igg4-Related Kidney Disease
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Lymphadenitis,... ORPHA:449395
Autoimmune Polyendocrinopathy Type 3
Osteopenia, Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Tubulointerstitial nep... ORPHA:227982
Immunodeficiency 57 With Autoinflammation
Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Decreased circulating antibody ... OMIM:618108
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Decreased response to growth hormone stimulation test, Enteroviral hepatiti... OMIM:307200
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomega... OMIM:260920
Rheumatoid Arthritis
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Joint stiffnes... OMIM:180300
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Recurrent pneumonia, Secretory diarrhea, Increased circulating IgE level, Vomiting OMIM:616069
Multiple Myeloma
Osteopenia, Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating cr... ORPHA:29073
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co... OMIM:208250
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os... OMIM:105835
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Eczema, Autoimmunity, Autoimmune thrombocytopenia, Neutropenia in pr... OMIM:615952
Dystrophic Epidermolysis Bullosa Pruriginosa
Scarring, Abnormality of the elbow, Increased circulating IgE level, Atrophic scars, Abnormality ... ORPHA:89843
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Multiple Epiphyseal Dysplasia Type 1
Abnormal acetabulum morphology, Joint stiffness, Osteoarthritis, Delayed epiphyseal ossification,... ORPHA:93308
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protei... ORPHA:449427
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Chronic diarrhea, Lymphopenia, ... OMIM:102700
Psoriasis 14, Pustular
Neutrophilia, Psoriasiform dermatitis, Cholangitis, Elevated circulating C-reactive protein conce... OMIM:614204
Spondyloepiphyseal Dysplasia Tarda
Increased inflammatory response, Increased bone mineral density, Osteoarthritis of the distal int... ORPHA:93284
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, ... OMIM:616576
Adult-Onset Nemaline Myopathy
Neuromuscular dysphagia, Paraproteinemia, Flexion contracture, Mildly elevated creatine kinase ORPHA:171442
Melorheostosis
Increased bone mineral density, Joint stiffness, Atypical scarring of skin, Arthritis, Hyperostos... ORPHA:2485
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Osteoarthritis, Elevated transferrin saturation, An... OMIM:606069
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Enamel hypoplasia, Decreased circulating IgG level, Neutropenia ORPHA:2643
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Intestinal obstruction, Increased circulating IgA level, Peritonitis... ORPHA:343
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, T l... OMIM:619381
Graft Versus Host Disease
Fasciitis, Myositis, Limited elbow movement, Gastrointestinal inflammation, Vomiting, Stiff inter... ORPHA:39812
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circula... OMIM:301074
Hip Dysplasia, Beukes Type
Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality of bone mi... ORPHA:2114
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Increased circula... ORPHA:3243
Lesch-Nyhan Syndrome
Anemia, Hyperuricemia, Gout ORPHA:510
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Ulnar deviation ... OMIM:228000
Q Fever
Rheumatoid factor positive, Cholecystitis, Lupus anticoagulant, Infectious encephalitis, Maculopa... ORPHA:781
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... OMIM:256040
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Skin rash, Eczema, Elevated circulating C-reactive protein concentration, Erythema ... OMIM:615688
Coccidioidomycosis
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Abscess, Eosinophilia, Erythema nodosum, Abnor... ORPHA:228123
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Acne, Increased bone mineral density, Congen... ORPHA:77297
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Impaired T cell function, Pneumonia, Splenomegaly, Lymph node hypoplasia, Decreased ly... OMIM:613179
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Psoriasiform dermatitis, Decreased lymphocyte proliferation in response to anti-CD3, ... ORPHA:221139
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, De... OMIM:130060
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Pustule, Leukocytosis, Cheil... ORPHA:247353
Prolidase Deficiency
Eczema, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Crusting erythematous dermatitis, Sy... OMIM:170100
Cranio-Osteoarthropathy
Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Arthritis, Joint swelling, Abno... ORPHA:1525
Gaucher Disease Type 1
Osteopenia, Pancytopenia, Increased bone mineral density, Hypersplenism, Thrombocytopenia, Osteoa... ORPHA:77259
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir... ORPHA:36234
Postinfectious Vasculitis
Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin... ORPHA:48435
Anti-Glomerular Basement Membrane Disease
Arthritis, Autoimmunity, Anemia ORPHA:375
Peeling Skin Syndrome 1
Increased circulating IgE level, Palmoplantar hyperhidrosis, Eosinophilia, Erythroderma OMIM:270300
Tick-Borne Encephalitis
Stiff neck, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytosis... ORPHA:297
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis OMIM:617772
Immunodeficiency 17
Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic diarrh... OMIM:615607
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Diarrhea, Hepatitis, Me... ORPHA:319218
Combined Oxidative Phosphorylation Deficiency 53
Osteomyelitis, Elevated circulating C-reactive protein concentration, Hypochromic microcytic anem... OMIM:619423
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Reduced haptoglobin level, Thrombocytopenia, Spleno... OMIM:210250
Familial Avascular Necrosis Of Femoral Head
Hip osteoarthritis, Limited hip movement ORPHA:86820
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Osteoarthritis, Generalized joint laxity, Genu valgum, Multip... ORPHA:85198
Pseudoachondroplasia
Joint laxity, Limited hip extension, Joint stiffness, Distal joint laxity, Osteoarthritis, Delaye... ORPHA:750
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Diarrhea, Bronchiectasis, Increased circulating IgM level, T lymphocytopeni... OMIM:242860
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Gout, Hyperuricemia, Neutropenia, Anemia OMIM:617056
Osteoarthritis With Mild Chondrodysplasia
Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Joint stiffness OMIM:604864
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinu... ORPHA:79078
Secondary Non-Traumatic Avascular Necrosis
Autoimmunity, Limitation of joint mobility, Systemic lupus erythematosus, Abnormality of connecti... ORPHA:399180
Rift Valley Fever
Skin rash, Hematemesis, Thrombocytopenia, Hepatitis, Uveitis, Melena, Increased circulating IgG l... ORPHA:319251
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Netherton Syndrome
Recurrent skin infections, Allergic rhinitis, Eczema, Increased circulating IgE level, Hypereosin... OMIM:256500
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Auto... ORPHA:809
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, ... ORPHA:100026
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Increased circulating IgE level, Blepharitis, Erythroderma OMIM:614328
Eosinophilic Fasciitis
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Arthritis, Cellulitis ORPHA:3165
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Reduced er... OMIM:232800
Sydenham Chorea
Septic arthritis, Endocarditis ORPHA:306731
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:66661
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Osteomyelitis, Skin rash, Eczema, Eosinophilia, Recurrent fractures, Craniosynostosis... ORPHA:2314
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Joint dislocation, Skin rash, Autoimmunity, Splenomegaly, Diarrhea, Uveitis, Arthri... ORPHA:36412
Ehlers-Danlos Syndrome, Hypermobility Type
Joint dislocation, Osteoarthritis, Joint hypermobility, Joint laxity OMIM:130020
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Autoimmunity, Splenomegaly, Increased circulating ferritin co... OMIM:618398
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Increased circulating IgG4 level, Eosinophilia, Keratitis, Orchitis, Elev... ORPHA:449563
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Septic arthritis ORPHA:36237
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Pericarditis, Myositis, Skin rash, Elevated circulating C-reactive protein concentrati... ORPHA:32960
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia, Chronic diarrhea, Decreased circulating antibody level, Decreased c... ORPHA:90362
Peripheral Dysostosis
Osteoarthritis, Joint stiffness ORPHA:1795
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Autoimmunity, Elevated circulating creatine kinase con... ORPHA:732
Progressive Osseous Heteroplasia
Osteoarthritis, Limitation of joint mobility, Ectopic ossification in muscle tissue ORPHA:2762
Morgagni-Stewart-Morel Syndrome
Acne, Osteoarthritis, Osteoporosis, Hyperostosis frontalis interna, Hyperuricemia, Hypercholester... ORPHA:77296
Beukes Hip Dysplasia
Osteoarthritis, Shallow acetabular fossae OMIM:142669
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis OMIM:271600
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Inflammatory Pseudotumor Of The Liver
Elevated circulating alpha-fetoprotein concentration, Increased hepatitis B virus antibody level,... ORPHA:90003
Wiskott-Aldrich Syndrome
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... OMIM:301000
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Arthritis OMIM:613217
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the knee, Abnormality of the epiphyses of the elbow, Osteoarthritis, Genu valgum, ... ORPHA:166002
Immunodeficiency 68
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... OMIM:612260
Epiphyseal Dysplasia, Multiple, 1
Joint stiffness, Delayed epiphyseal ossification, Generalized joint laxity, Limited hip movement,... OMIM:132400
Wild Type Abeta2M Amyloidosis
Arthropathy, Gastrointestinal hemorrhage, Bone cyst, Arthritis, Dysphagia ORPHA:85446
Adiposis Dolorosa
Recurrent skin infections, Autoimmunity, Diarrhea, Xerostomia, Arthritis, Constipation, Hypothyro... ORPHA:36397
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Omphalocele, Autoimmune hemolytic ane... OMIM:243150
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Lysinuric Protein Intolerance
Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula... ORPHA:470
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Familial Mediterranean Fever
Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Orchitis, Sple... OMIM:249100
Crimean-Congo Hemorrhagic Fever
Stiff neck, Elevated circulating creatine kinase concentration, Hyperhidrosis, Increased circulat... ORPHA:99827
Systemic Lupus Erythematosus
Hemolytic anemia, Lupus nephritis, Discoid lupus rash, Antinuclear antibody positivity, Anti-La/S... ORPHA:536
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis ORPHA:2206
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Ollier Disease
Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis, Anemia ORPHA:296
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmunity, Autoimmune thrombo... ORPHA:1855
Epiphyseal Dysplasia, Multiple, 6
Abnormality of the knee, Osteoarthritis OMIM:614135
Pfapa Syndrome
Splenomegaly, Arthritis, Infectious encephalitis ORPHA:42642
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Tubulointerstitial nephritis, ... ORPHA:289390
Epiphyseal Dysplasia, Multiple, 5
Premature osteoarthritis, Delayed ossification of carpal bones, Delayed tarsal ossification, Genu... OMIM:607078
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Pneumocystosis
Abnormal neutrophil count, Acute infectious pneumonia, Interstitial pneumonitis, Increased circul... ORPHA:723
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Intestinal obstruction, Autoimmunity, Decreased prealbumin leve... ORPHA:90363
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Hip osteoarthritis, Premature osteoarthritis, Osteochondritis dissecans OMIM:165800
Alpha-Mannosidosis
Craniofacial hyperostosis, Inguinal hernia, Splenomegaly, Arthritis, Chronic otitis media, Synost... ORPHA:61
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Arthritis, Mildly elevated creatine kinase, Dysphagia ORPHA:397744
Autosomal Dominant Spastic Paraplegia Type 36
Arthritis ORPHA:320365
Primary Biliary Cholangitis
Autoimmunity, Increased circulating IgA level, Conjugated hyperbilirubinemia, Antinuclear antibod... ORPHA:186
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Absent peripheral lymph nodes in pres... OMIM:600802
Riddle Syndrome
Pneumonia, Elevated circulating alpha-fetoprotein concentration, Diarrhea, Recurrent pneumonia, A... ORPHA:420741
Muckle-Wells Syndrome
Episcleritis, Skin rash, Camptodactyly of finger, Splenomegaly, Uveitis, Arthritis, Conjunctiviti... ORPHA:575
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephritis, Hyperuricemia, Gout OMIM:162000
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Osteoarthritis ORPHA:435804
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Keratitis, Increased circulating IgE level, Br... ORPHA:1163
Laron Syndrome
Hypercholesterolemia, Osteoarthritis, Abnormality of the elbow, Hypohidrosis ORPHA:633
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Joint hyperflexibility ORPHA:63442
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Autoimmunity, ... ORPHA:727
Shigellosis
Hyponatremia, Pneumonia, Abscess, Myocarditis, Peritonitis, Leukocytosis, Thrombocytopenia, Abnor... ORPHA:810
Ataxia-Telangiectasia
Lymphopenia, Sinusitis, Elevated circulating alpha-fetoprotein concentration, Decreased circulati... OMIM:208900
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Decreased proportion of naive T cells, Pneumonia, Aplasia of the thymus, Hypocalcemic ... ORPHA:83471
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis ORPHA:93283
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Diarrhea, Xerostomia, Arthritis, K... OMIM:617321
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormality of the knee, Hip contracture, Protrusio acetabuli, Limited hip movement, Hip osteoart... ORPHA:99642
Takayasu Arteritis
Increased inflammatory response, Hyperhidrosis, Arthritis, Inflammatory abnormality of the eye, A... ORPHA:3287
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Recurrent fractures, Increased circulating IgE level, Osteoporosis, Flex... ORPHA:3409
Symptomatic Form Of Hfe-Related Hemochromatosis
Arthropathy, Joint stiffness, Splenomegaly, Elevated transferrin saturation, Increased circulatin... ORPHA:465508
Myasthenia Gravis
Hemolytic anemia, Myositis, Hyperthyroidism, Pure red cell aplasia, Anti-acetylcholine receptor a... ORPHA:589
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis OMIM:619248
Complement Factor I Deficiency
Recurrent skin infections, Glomerulonephritis, Decreased circulating complement factor B concentr... OMIM:610984
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Diarrhea, Reticulocytopenia, Decreased cir... OMIM:275350
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Hypochondroplasia
Joint hyperflexibility, Osteoarthritis, Abnormality of the elbow, Genu varum ORPHA:429
Melioidosis
Foot osteomyelitis, Brain abscess, Liver abscess, Lung abscess, Pneumonia, Abnormality of the spl... ORPHA:31202
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
Wiskott-Aldrich Syndrome
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine... ORPHA:906
Thrombocytopenia 1
Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet... OMIM:313900
Dysplasia Epiphysealis Hemimelica
Tarsal synostosis, Recurrent fractures, Joint stiffness, Osteoarthritis, Genu valgum, Genu varum ORPHA:1822
Psoriasis 1, Susceptibility To
Arthritis, Psoriasiform dermatitis OMIM:177900
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Splenomegaly, Recurrent pneumonia, Decreased circulating tot... OMIM:612301
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Atrophic gastritis, Pancytopenia, Skin rash, Pneumonia, Chilblains, Hematemesis... OMIM:615846
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Eosinophilia, Autoimmunity, Inte... ORPHA:183
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Limitation of joint mobility, Abnormal carpal morphology, Osteoporosis, Abnormal ... ORPHA:93351
Alg12-Cdg
Hyponatremia, Ulnar deviation of the wrist, Partial absence of specific antibody response to Haem... ORPHA:79324
Fusariosis
Brain abscess, Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis,... ORPHA:228119
Mevalonic Aciduria
Normocytic hypoplastic anemia, Skin rash, Elevated circulating creatine kinase concentration, Ele... OMIM:610377
Neuropathy, Hereditary Sensory And Autonomic, Type V
Arthropathy, Anhidrosis, Osteomyelitis, Recurrent fractures, Osteoarthritis, Diarrhea, Painless f... OMIM:608654
Sjogren Syndrome
Autoimmunity, Xerostomia, Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid ar... OMIM:270150
Progressive Pseudorheumatoid Dysplasia
Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Joint stiffness, Osteoarth... OMIM:208230
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Myositis, Skin rash, Maculopapular exanthema, Chronic diarrhea, Olig... OMIM:142680
Spondyloepiphyseal Dysplasia, Nishimura Type
Osteoarthritis, Delayed epiphyseal ossification OMIM:618618
Moderate Hemophilia A
Arthropathy, Hip contracture, Gastrointestinal hemorrhage, Cartilage destruction, Limitation of j... ORPHA:169805
Juvenile Dermatomyositis
Calcinosis, Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Elevated circulating ... ORPHA:93672
Familial Cold Urticaria
Arthritis, Conjunctivitis, Hyperhidrosis ORPHA:47045
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Osteoarthritis, Joint stiffness ORPHA:1345
Diffuse Cutaneous Systemic Sclerosis
Autoimmunity, Flexion contracture, Xerostomia, Osteolysis, Arthritis, Gastroesophageal reflux, Dy... ORPHA:220393
Systemic Sclerosis
Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Elevated circulating ... ORPHA:90291
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic mucocutaneous c... ORPHA:911
Encephalitis Lethargica
Stiff neck, Increased circulating antibody level, Autoimmunity, Bowel incontinence ORPHA:83600
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Rhe... ORPHA:49041
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Allergic rhinitis, Increased circulating IgE level ORPHA:90368
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Viral hepatitis, Circulating immune complexes, Splenomegaly, Arthrit... ORPHA:91138
Paget Disease Of Bone 6
Osteoarthritis, Recurrent fractures OMIM:616833
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Premature osteoarthritis OMIM:184840
Whipple Disease
Hyponatremia, Gastrointestinal hemorrhage, Myositis, Pericarditis, Myocarditis, Splenomegaly, Hyp... ORPHA:3452
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Elevated circulating C-... ORPHA:91500
Pachydermoperiostosis
Gastrointestinal hemorrhage, Osteomyelitis, Acne, Elevated circulating growth hormone concentrati... ORPHA:2796
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Osteoarthritis ORPHA:166100
Lead Poisoning
Decreased HDL cholesterol concentration, Skin rash, Increased circulating IgE level, Imbalanced h... ORPHA:330015
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Hypothyroi... OMIM:607944
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Uveitis, Bloody diarrhea, Leukopenia, Hypoalb... ORPHA:99826
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Decreased circulating total IgG, Decreased circulating coppe... OMIM:300972
Say-Barber-Miller Syndrome
Eczema, Craniosynostosis, Erythema nodosum, Transient hypogammaglobulinemia of infancy, Hip dislo... ORPHA:3132
Spondylosis, Cervical
Osteoarthritis OMIM:184300
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Arthropathy, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Osteo... OMIM:259100
Mucopolysaccharidosis-Plus Syndrome
Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Flexion contracture, Increased circulating I... OMIM:617303
Severe Hemophilia A
Gastrointestinal hemorrhage, Limb joint contracture, Limitation of joint mobility, Synovitis, Joi... ORPHA:169802
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Arthropathy, Omphalocele, Sclerotic cranial sutures, Osteolysis involving bones of th... ORPHA:371428
Hereditary Spherocytosis
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculopapular exanth... ORPHA:822
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Neutropenia, Bronchiectasis, Chronic diarrhea, Decreased circulating antibod... OMIM:601495
Netherton Syndrome
Skin rash, Eczema, Increased circulating IgE level, Decreased circulating antibody level, Erythro... ORPHA:634
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal acetabulum morphology, Joint stiffness, Osteoarthritis, Limitation of joint mobility, Ge... ORPHA:166011
Localized Scleroderma
Fasciitis, Autoimmunity, Flexion contracture, Uveitis, Arthritis, Gastroesophageal reflux, Progre... ORPHA:90289
Hereditary Xanthinuria
Arthropathy, Hypouricemia, Hyperxanthinemia, Gout, Rheumatoid arthritis ORPHA:3467
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Skin rash, Pneumonia, Absce... ORPHA:125
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, I... OMIM:615508
Nail-Patella Syndrome
Flexion contracture, Patellar hypoplasia, Reduced bone mineral density, Knee flexion contracture,... ORPHA:2614
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Enamel hypomineralizati... OMIM:307800
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Ventral hernia, Inguinal hernia, Osteoarthritis, Generalized joint laxity, Osteoporos... OMIM:618000
Poems Syndrome
Sclerosis of hand bone, Lipodystrophy, Sclerosis of foot bone, Hypothyroidism, Primary adrenal in... ORPHA:2905
Spondyloepimetaphyseal Dysplasia, Irapa Type
Capitate-hamate fusion, Osteoarthritis, Limited elbow extension, Genu valgum OMIM:271650
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Pericarditis, Diarrhea, Flexion contracture, Abnormal subcutaneous fat tissue distrib... OMIM:212065
Congenital Pseudoarthrosis Of The Clavicle
Osteoarthritis ORPHA:66630
Cystic Echinococcosis
Abscess, Eosinophilia, Bone cyst, Membranous nephropathy, Increased circulating antibody level, H... ORPHA:400
Wilson Disease
Splenomegaly, Hepatitis, Anemia, Arthritis, Joint swelling, Acute hepatitis, Pathologic fracture,... ORPHA:905
Ulnar Hemimelia
Limited elbow movement, Radial club hand, Osteoarthritis, Humeroradial synostosis, Elbow flexion ... ORPHA:93320
Vertical Talus, Congenital
Arthritis OMIM:192950
Multiple Epiphyseal Dysplasia Type 5
Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Decreased hip abd... ORPHA:93311
Stickler Syndrome Type 1
Joint hyperflexibility, Osteoarthritis ORPHA:90653
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis, Hyperuricemia, Gout ORPHA:411543
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Osteoarthritis, Bronchiectasis, Joint hypermobility OMIM:620080
Vici Syndrome
Decreased circulating IgG2 level, Decreased circulating IgG level, Joint stiffness ORPHA:1493
Gaucher Disease
Osteopenia, Joint dislocation, Pancytopenia, Osteomyelitis, Increased bone mineral density, Recur... ORPHA:355
Roifman-Chitayat Syndrome
Osteopenia, Arthritis, Umbilical hernia, Pneumonia OMIM:613328
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Keratitis, Osteoarthritis, Osteolysis, Abnormality of the wrist ORPHA:1657
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Increased circulating interleukin 6 concentration, Brain abscess,... ORPHA:544482
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, Limited elbow movement, Craniosynostosis, Decreased proportion of CD8-positive T cel... ORPHA:508533
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis, Hyperuricemia ORPHA:411536
Lyme Disease
Arthritis, Infectious encephalitis, Joint swelling, Uveitis ORPHA:91546
Congenital Analbuminemia
Lipodystrophy, Hyperlipidemia, Increased alpha-globulin, Increased circulating antibody level, Hy... ORPHA:86816
Reynolds Syndrome
Skin rash, Xerostomia, Arthritis, Keratoconjunctivitis sicca, Gastroesophageal reflux, Dysphagia,... ORPHA:779
Liver Failure, Infantile, Transient
Decreased circulating IgG level, Hypoalbuminemia, Vomiting, Hyperbilirubinemia OMIM:613070
Alkaptonuria
Joint dislocation, Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral d... ORPHA:56
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Cellulitis, Recurrent pneumonia, Bronc... ORPHA:51636
Ehlers-Danlos Syndrome, Classic Type, 1
Joint dislocation, Hyperextensibility of the finger joints, Inguinal hernia, Hyperextensibility o... OMIM:130000
Myotonic Dystrophy 2
Oligozoospermia, Decreased circulating total IgM, Hypogonadism, Elevated circulating follicle sti... OMIM:602668
Achalasia, Familial Esophageal
Keratoconjunctivitis sicca, Achalasia, Xerostomia, Rheumatoid arthritis OMIM:200400
Lassa Fever
Increased circulating IgM level, Diarrhea, Conjunctivitis, Dysphagia ORPHA:99824
Scedosporiosis
Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, Endocarditis, Septic art... ORPHA:449280
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Osteopenia, Gastroparesis, Decreased ... ORPHA:79329
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Pancytopenia, Iridocyclitis, Splenomegaly, Bone cyst, Bronchiec... OMIM:181000
Congenital Disorder Of Glycosylation, Type Ig
Small scrotum, Hypospadias, Cryptorchidism, Recurrent pneumonia, Decreased circulating total IgM,... OMIM:607143
Idiopathic Camptocormia
Myositis, Elevated circulating creatine kinase concentration, Osteoarthritis, Abnormal inflammato... ORPHA:1320
Hemophilia B
Gastrointestinal hemorrhage, Osteoarthritis, Joint hemorrhage OMIM:306900
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Synovi... OMIM:186580
Vici Syndrome
Decreased circulating IgG level, Lymphopenia, Elevated circulating creatine kinase concentration,... OMIM:242840
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Decreased testicular size, Decr... OMIM:620040
Rheumatic Fever
Pericarditis, Sinusitis, Myocarditis, Endocarditis, Arthritis, Constipation ORPHA:3099
Bloom Syndrome
Elevated hemoglobin A1c, Bronchiectasis, Malar rash, Decreased circulating total IgM, Leukemia, D... OMIM:210900
Desbuquois Dysplasia 1
Joint dislocation, Joint laxity, Phalangeal dislocation, Osteoarthritis, Osteoporosis, Advanced o... OMIM:251450
Listeriosis
Liver abscess, Stiff neck, Abnormal cellular immune system morphology, Granulomatosis, Conjunctiv... ORPHA:533
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... ORPHA:477
Alveolar Echinococcosis
Liver abscess, Cholangitis, Eosinophilia, Bone cyst, Abnormal spleen morphology, Increased circul... ORPHA:284
Meige Disease
Recurrent skin infections, Lymph node hypoplasia, Recurrent bacterial skin infections, Absence of... ORPHA:90186
Wilson Disease
Hypoparathyroidism, Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouric... OMIM:277900
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Chronic diarrhea, Flexion contracture, Absence of subcutaneous fat, Kerat... OMIM:601675
Pseudoachondroplasia
Joint laxity, Genu recurvatum, Limited hip extension, Ulnar deviation of the wrist, Irregular car... OMIM:177170
Medullary cystic kidney disease 2
Tubulointerstitial nephritis, Hyperuricemia, Gout OMIM:603860
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Lipoatrophy, Chilblains, Autoimmunity, Neonatal alloimmune... ORPHA:51
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Genu valgum, Congenital hypothyroidism, Delayed ossification of carpal bones, Neutrop... OMIM:271510
Glycogen Storage Disease Ib
Splenomegaly, Hyperlipidemia, Osteoporosis, Gout, Inflammation of the large intestine, Hyperurice... OMIM:232220
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Joint stiffness, Thrombocytopenia, Flexion contracture, Hepatosplenomegaly, Increased circulating... ORPHA:505248
Larsen-Like Syndrome, Lethal Type
Joint dislocation, Multiple joint dislocation, Abnormal cartilage matrix, Tracheomalacia OMIM:245650
Kniest Dysplasia
Hip contracture, Inguinal hernia, Enlarged joints, Tracheomalacia, Abnormal cartilage collagen, D... OMIM:156550
Primary Sclerosing Cholangitis
Osteopenia, Abnormal eosinophil morphology, Autoimmunity, Splenomegaly, Osteoporosis, Thyroiditis... ORPHA:171
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Neutropenia, Increased circulating IgA level OMIM:616395
Farber Disease
Abnormality of the knee, Flexion contracture, Osteoporosis, Abnormality of the elbow, Chronic dia... ORPHA:333
Gaisböck Syndrome
Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Gout, Hy... ORPHA:90041
Hemophilia A
Osteoarthritis, Joint hemorrhage OMIM:306700
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Cholangitis, Colitis, Vomiting, Neutrophilia, Ankle swelling, Leukocytosis, Chroni... ORPHA:3260
Mogs-Cdg
External genital hypoplasia, Decreased circulating antibody level, Hepatosplenomegaly, Decreased ... ORPHA:79330
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Delayed cranial suture closure, Craniosy... OMIM:620005
Lymphoid Interstitial Pneumonia
Skin rash, Eczema, Autoimmunity, Autoimmune antibody positivity, Bronchiectasis, Keratoconjunctiv... ORPHA:79128
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Diarrhea, Osteoporosis, En... ORPHA:79259
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Joint laxity, Hip subluxation, Generalized joint laxity, Delayed epiphyseal ossification, Prematu... ORPHA:93360
Stickler Syndrome, Type I
Arthropathy, Joint stiffness, Osteoarthritis, Arthritis, Joint hypermobility OMIM:108300
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Arthritis, Cervical subluxation OMIM:184100
Al Amyloidosis
Gastrointestinal hemorrhage, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, ... ORPHA:85443
Alkaptonuria
Arthropathy, Vertebral fusion, Limited shoulder movement, Arthritis, Limited hip movement, Limita... OMIM:203500
Gaucher Disease Type 3
Pancytopenia, Increased bone mineral density, Splenomegaly, Osteolysis, Increased susceptibility ... ORPHA:77261
Scleromyxedema
Elevated circulating creatine kinase concentration, Abnormality of thyroid physiology, Hypoperist... ORPHA:167635
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertriglyceridemia, Gout, Increase... ORPHA:412
Japanese Encephalitis
Hyponatremia, Neutrophilia, Genu recurvatum, Stiff neck, Diarrhea, Elbow flexion contracture, Inc... ORPHA:79139
Aortic Aneurysm, Familial Thoracic 12
Arthritis OMIM:619825
Autosomal Dominant Dopa-Responsive Dystonia
Hypothyroidism, Progressive flexion contractures, Transient hyperphenylalaninemia, Rheumatoid art... ORPHA:98808
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia, Gout ORPHA:79233
Dowling-Degos Disease
Arthritis, Acne inversa ORPHA:79145
Glycogen Storage Disease Ia
Hyperlipidemia, Osteoporosis, Gout, Hyperuricemia, Intermittent diarrhea, Pancreatitis OMIM:232200
Relapsing Polychondritis
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Limitation of joint mobi... ORPHA:728
Dubowitz Syndrome
Inguinal hernia, Aplastic anemia, Eczema, Chronic diarrhea, Acute lymphoblastic leukemia, Gastroe... OMIM:223370
Congenital Tufting Enteropathy
Chronic diarrhea, Secretory diarrhea, Arthritis, Vomiting, Steatorrhea, Punctate keratitis ORPHA:92050
Yellow Fever
Acute pancreatitis, Neutrophilia, Skin rash, Increased circulating interleukin 6 concentration, E... ORPHA:99829
Okur-Chung Neurodevelopmental Syndrome
Inguinal hernia, Decreased circulating antibody level, Constipation, Umbilical hernia, Decreased ... OMIM:617062
Viss Syndrome
Chronic gastritis, Generalized joint laxity, Increased circulating IgG level, Gastroesophageal re... OMIM:619472
Blau Syndrome
Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Retrobulbar optic neuritis, Erythema... ORPHA:90340
Otospondylomegaepiphyseal Dysplasia
Abnormally ossified vertebrae, Enlarged joints, Abnormal joint morphology, Osteoarthritis, Limita... ORPHA:1427
Familial Mediterranean Fever
Pericarditis, Intestinal obstruction, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Peritoni... ORPHA:342
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Gout, Tubulointerstitial nephritis, Hyperuricemia,... OMIM:174000
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Diarrhea, Hepatosplenomegaly, Decr... OMIM:618278
22Q11.2 Deletion Syndrome
Impaired T cell function, Hypoplasia of the thymus, Hypocalcemia, Gastroesophageal reflux, Chroni... ORPHA:567
Trichothiodystrophy 5, Nonphotosensitive
Chronic diarrhea, Chronic decreased circulating IgG1, Panhypopituitarism OMIM:300953
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Proximal phalangeal periosteal thickening, Osteolytic defects of the phalanges of the hand, Foot ... OMIM:161700
Kniest Dysplasia
Arthropathy, Enlarged joints, Joint stiffness, Delayed epiphyseal ossification, Abnormal joint mo... ORPHA:485
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Hypoammonemia, Periodontitis, Gastroesophageal reflux, Chronic otitis media,... ORPHA:534
Glycogen Storage Disease Ic
Cyclic neutropenia, Chronic pancreatitis, Hyperlipidemia, Gout, Inflammation of the large intesti... OMIM:232240
Kawasaki Disease
Pericarditis, Skin rash, Myocarditis, Leukocytosis, Diarrhea, Hepatitis, Cheilitis, Arthritis, Co... ORPHA:2331
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Gout OMIM:618061
Spondyloepimetaphyseal Dysplasia, Missouri Type
Osteoarthritis, Limited elbow extension, Genu varum OMIM:602111
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of exocrine pancreas physiology, Abnormality of endocrine pancreas physiology, Arthri... ORPHA:93111
Cysticercosis
Iridocyclitis, Stiff neck, Infectious encephalitis, Increased circulating antibody level ORPHA:1560
Behcet Syndrome
Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Iritis OMIM:109650
Behçet Disease
Gastrointestinal hemorrhage, Increased inflammatory response, Myositis, Pericarditis, Acne, Orchi... ORPHA:117
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level, Elevated circulating creatine kinase concentration, Elevate... OMIM:606002
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Delayed epiphyseal ossification, Premature osteoarthritis, Hepatosplenomegaly, Gene... ORPHA:93352
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal acetabulum morphology, Limb joint contracture, Abnormal enchondral ossification, Delayed... ORPHA:93314
Trichinellosis
Skin rash, Increased circulating IgE level, Conjunctivitis, Dysphagia, Nausea ORPHA:863
Giant Cell Arteritis
Hyperhidrosis, Arthritis, Pericarditis, Joint stiffness ORPHA:397
Multiple Epiphyseal Dysplasia Type 4
Dislocation of the femoral head, Joint stiffness, Premature osteoarthritis, Delayed femoral head ... ORPHA:93307
Dermatomyositis
Pericarditis, Abnormal eosinophil morphology, Autoimmunity, Myocarditis, Arthritis, Cellulitis, C... ORPHA:221
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Osteoarthritis, Ivory epiphyses of the distal phalanges of the hand OMIM:190350
Hereditary Sensory And Autonomic Neuropathy Type 4
Anhidrosis, Fasciitis, Osteomyelitis, Neuropathic arthropathy, Abscess, Corneal scarring, Hyperhi... ORPHA:642
Gitelman Syndrome
Diarrhea, Hypermagnesemia, Gout, Hyperhidrosis, Tubulointerstitial nephritis, Iron deficiency ane... ORPHA:358
Multiple Osteochondromas
Abnormality of the knee, Intestinal obstruction, Limitation of joint mobility, Abnormal carpal mo... ORPHA:321
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Flexion contracture, Premature osteoarthritis, Recurrent pneumonia, Enlarged joints OMIM:215150
Fabry Disease
Hyperlipidemia, Reduced bone mineral density, Hypohidrosis, Arthritis, Achalasia, Abnormal circul... ORPHA:324
Congenital Tricuspid Stenosis
Rheumatoid arthritis, Bacterial endocarditis ORPHA:95459
Immunoglobulin A Vasculitis
Episcleritis, Gastrointestinal hemorrhage, Skin rash, Orchitis, Pustule, Arthritis, Infectious en... ORPHA:761
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hip osteoarthritis, Limitation of joint mobility OMIM:313400
Aapoaiv Amyloidosis
Hyperlipidemia, Paraproteinemia, Elevated circulating creatinine concentration ORPHA:439232
Plague
Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Splenomegaly, Abnormality of the elbow, ... ORPHA:707
Marshall Syndrome
Osteoarthritis, Hypohidrosis, Genu valgum ORPHA:560
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Epiphyseal stippling, Arthrogryposis multiplex congenita, Abnormal cartilage matrix, Abnormal bon... ORPHA:86822
Loeys-Dietz Syndrome 6
Hip osteoarthritis, Knee osteoarthritis, Intervertebral disc degeneration OMIM:619656
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia, Gout OMIM:300661
Loeys-Dietz Syndrome 5
Reduced subcutaneous adipose tissue, Inguinal hernia, Eosinophilic infiltration of the esophagus,... OMIM:615582
Osteogenesis Imperfecta
Osteopenia, Osteoarthritis, Flexion contracture, Hyperhidrosis, Decreased skull ossification, Dis... ORPHA:666
Aneurysm-Osteoarthritis Syndrome
Joint laxity, Osteoarthritis of the small joints of the hand, Inguinal hernia, Protrusio acetabul... ORPHA:284984
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Lipodystrophy, Bone cyst, Abnormal cartilage morphology, Osteolysis, M... ORPHA:2396
Classical Ehlers-Danlos Syndrome
Osteopenia, Inguinal hernia, Phalangeal dislocation, Hiatus hernia, Incisional hernia, Osteoarthr... ORPHA:287
Chronic Graft Versus Host Disease
Fasciitis, Pancytopenia, Urinary bladder inflammation, Diarrhea, Flexion contracture, Xerostomia,... ORPHA:99921
Simpson-Golabi-Behmel Syndrome
Omphalocele, Vertebral fusion, Inguinal hernia, Congenital hip dislocation, Camptodactyly of fing... ORPHA:373
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia, Gout, Exocrine pancreatic insuffici... OMIM:137920
Lethal Kniest-Like Dysplasia
Abnormal cartilage morphology, Abnormal cartilage matrix ORPHA:2347
Hypermobile Ehlers-Danlos Syndrome
Joint dislocation, Inguinal hernia, Elbow dislocation, Osteoarthritis, Limitation of joint mobili... ORPHA:285
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Recurrent skin infections,... ORPHA:3455
Mucopolysaccharidosis Type 2, Severe Form
Inguinal hernia, Camptodactyly of finger, Splenomegaly, Flexion contracture, Limitation of joint ... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Inguinal hernia, Camptodactyly of finger, Splenomegaly, Flexion contracture, Limitation of joint ... ORPHA:217093
Tetrasomy 9P
Joint dislocation, Myositis, Pericarditis, Abnormal dental enamel morphology, Systemic lupus eryt... ORPHA:3310
Stickler Syndrome
Joint dislocation, Protrusio acetabuli, Abnormal dental enamel morphology, Osteoarthritis, Hip di... ORPHA:828
Choreoacanthocytosis
Elevated circulating creatine kinase concentration, Acanthocytosis, Abnormal erythrocyte enzyme l... ORPHA:2388
Hunter-Macdonald Syndrome
Inguinal hernia, Premature osteoarthritis, Umbilical hernia, Camptodactyly, Cubitus valgus, Joint... OMIM:611962
Aspartylglucosaminuria
Inguinal hernia, Joint stiffness, Splenomegaly, Arthritis, Chronic otitis media, Umbilical hernia... ORPHA:93
Noonan Syndrome 1
Cubitus valgus, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Synovitis OMIM:163950
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Gastroparesis, Sagittal craniosynostosis, Chronic diarrhea, Hyperextensible hand joints, Secretor... ORPHA:500150
Mucopolysaccharidosis Type 2
Inguinal hernia, Splenomegaly, Limitation of joint mobility, Chronic diarrhea, Abnormal epiphysea... ORPHA:580
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Osteoarthritis OMIM:619714
Loeys-Dietz Syndrome 3
Joint laxity, Uterine prolapse, Inguinal hernia, Protrusio acetabuli, Eosinophilic infiltration o... OMIM:613795
Hutchinson-Gilford Progeria Syndrome
Limitation of movement at ankles, Joint stiffness, Limited wrist movement, Osteoarthritis, Limita... ORPHA:740
Lacrimoauriculodentodigital Syndrome
Abnormal dental enamel morphology, Xerostomia, Keratoconjunctivitis, Arthritis, Keratoconjunctivi... ORPHA:2363
Acromegaly
Acne, Elevated circulating growth hormone concentration, Osteoarthritis, Hyperhidrosis, Joint swe... ORPHA:963
Marfan Syndrome
Reduced subcutaneous adipose tissue, Genu recurvatum, Protrusio acetabuli, Incisional hernia, Fle... OMIM:154700
Somatomammotropinoma
Elevated circulating growth hormone concentration, Osteoarthritis, Hyperhidrosis, Joint swelling,... ORPHA:314769
Ramon Syndrome
Juvenile rheumatoid arthritis OMIM:266270
Vascular Ehlers-Danlos Syndrome
Joint dislocation, Inguinal hernia, Congenital hip dislocation, Osteoarthritis, Cigarette-paper s... ORPHA:286

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Clec4a2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Clec4a2.

No publications found that use IMPC mice or data for Clec4a2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Clec4a2tm272512(L1L2_Bact_P) Reporter-tagged deletion allele (with selection cassette) Targeting vectors

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