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 |
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Pericarditis, Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Car... |
ORPHA:829 |
Vexas Syndrome |
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Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... |
OMIM:301054 |
Adult Idiopathic Neutropenia |
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Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Recurrent aphthous stoma... |
ORPHA:2688 |
Coronary Artery Disease, Autosomal Dominant 2 |
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Increased LDL cholesterol concentration, Hypertriglyceridemia, Osteoporosis, Gout |
OMIM:610947 |
Transcobalamin Deficiency |
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Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Familial Cold Autoinflammatory Syndrome 1 |
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Skin rash, Elevated circulating C-reactive protein concentration, Leukocytosis, Uveitis, Arthriti... |
OMIM:120100 |
Hemochromatosis, Type 3 |
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Increased circulating ferritin concentration, Elevated transferrin saturation, Arthritis, Increas... |
OMIM:604250 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Dysgammaglobulinemia, Impaired Ig class switch recombination, Absence of lymph node germinal cent... |
OMIM:308230 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune... |
ORPHA:572 |
Immunodeficiency, Common Variable, 10 |
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Psoriasiform dermatitis, Decreased response to growth hormone stimulation test, Anti-thyroid pero... |
OMIM:615577 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Abnormally low T cell receptor excision circle level, Monocytopenia, Lymphopenia, Pancytopenia, D... |
OMIM:618986 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
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Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, Recurrent pneumonia, Increased ci... |
OMIM:618282 |
Cinca Syndrome |
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Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Pat... |
OMIM:607115 |
Combined Immunodeficiency Due To Dock8 Deficiency |
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Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... |
ORPHA:217390 |
Dracunculiasis |
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Recurrent cutaneous abscess formation, Skin rash, Diarrhea, Flexion contracture, Limitation of jo... |
ORPHA:231 |
Lymphoproliferative Syndrome, X-Linked, 2 |
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Pancytopenia, Hypertriglyceridemia, Acne, Recurrent skin infections, Aplastic anemia, Erythema no... |
OMIM:300635 |
Zika Virus Disease |
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Maculopapular exanthema, Skin rash, Ankle swelling, Wrist swelling, Thrombocytopenia, Arthritis, ... |
ORPHA:448237 |
Insulin-Resistance Syndrome Type B |
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Abnormal circulating lipid concentration, Skin rash, Pneumonia, Decreased circulating complement ... |
ORPHA:2298 |
Angiostrongyliasis |
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Stiff neck, Projectile vomiting, Increased circulating IgA level, Hypereosinophilia, Increased ci... |
ORPHA:74 |
Familial Calcium Pyrophosphate Deposition |
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Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Calci... |
ORPHA:1416 |
Eng-Strom Syndrome |
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Arthritis, Camptodactyly of finger |
ORPHA:1937 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
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Pneumonia, Diarrhea, Decreased circulating antibody level, Decreased circulating total IgM, B lym... |
OMIM:614069 |
Cernunnos-Xlf Deficiency |
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Autoimmunity, Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lympho... |
ORPHA:169079 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
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Arthritis, Lymphopenia, Eosinophilia, Limitation of joint mobility |
ORPHA:2582 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
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Neutropenia, Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobuli... |
OMIM:619705 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Leukopenia, Incre... |
OMIM:615285 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
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Absent specific antibody response, Decreased circulating antibody level, Lymphadenopathy, Follicu... |
OMIM:619846 |
Immunodeficiency, Common Variable, 6 |
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Glomerulonephritis, Autoimmune thrombocytopenia, Chronic decreased circulating total IgG, Complet... |
OMIM:613496 |
Overlap Myositis |
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Subluxation of the small joints of the hand, Elevated circulating creatine kinase concentration, ... |
ORPHA:206572 |
Agammaglobulinemia, X-Linked |
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Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Agammaglob... |
OMIM:300755 |
Immunodeficiency 15B |
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Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decrease... |
OMIM:615592 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Myositis, Sinusitis, Skin rash, Hypertriglyceridemia, Lipodystrophy, Thrombocytopenia, Splenomega... |
OMIM:617591 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
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Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps... |
ORPHA:183675 |
Osteoarthritis Susceptibility 3 |
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Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Joint stiffness, Osteoarthrit... |
OMIM:607850 |
Multicentric Reticulohistiocytosis |
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Arthritis, Histiocytosis |
ORPHA:139436 |
Tularemia |
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Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adenoid morphology, Cervical lymp... |
ORPHA:3392 |
Interstitial Granulomatous Dermatitis With Arthritis |
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Inflammatory abnormality of the skin, Elevated circulating C-reactive protein concentration, Rheu... |
ORPHA:79099 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
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Neutrophilia, Skin rash, Lipodystrophy, Elevated circulating C-reactive protein concentration, In... |
OMIM:617099 |
Albers-Schönberg Osteopetrosis |
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Abnormal leukocyte morphology, Joint dislocation, Osteomyelitis, Recurrent fractures, Mandibular ... |
ORPHA:53 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Myositis, Anti-thyroid peroxidase antibody positivity, Secretory diarrhea, Abnormal blood ion con... |
ORPHA:37042 |
Riddle Syndrome |
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Decreased circulating IgG level |
OMIM:611943 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
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Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Elevated circulating C-reactive protein ... |
ORPHA:324964 |
Kienbock Disease |
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Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist |
ORPHA:97332 |
Thymoma |
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Myositis, Aplastic anemia, Glomerulonephritis, Abnormal lymphocyte proliferation, Abnormal lympho... |
ORPHA:99867 |
Immunoneurologic Disorder, X-Linked |
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Decreased circulating IgG2 level |
OMIM:300076 |
Igg4-Related Thyroid Disease |
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Autoimmunity, Increased circulating IgG4 level, Anti-thyroid peroxidase antibody positivity, Thyr... |
ORPHA:64744 |
Mucopolysaccharidosis, Type Ix |
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Hyperextensibility at elbow, Acetabular erosions, Periarticular soft-tissue mass, Synovitis, Hype... |
OMIM:601492 |
Igg4-Related Submandibular Gland Disease |
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Cholangitis, Increased circulating IgG4 level, Eosinophilia, Autoimmunity, Increased circulating ... |
ORPHA:449432 |
Immunodeficiency 33 |
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Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
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Increased circulating IgE level, Eczema, Thyroiditis |
OMIM:618985 |
Immunodeficiency 96 |
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Eczema, Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T... |
OMIM:619774 |
Developmental Dysplasia Of The Hip 2 |
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Hip osteoarthritis, Arthritis |
OMIM:615612 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C... |
OMIM:606367 |
Idiopathic Chronic Eosinophilic Pneumonia |
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Autoimmunity, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circ... |
ORPHA:2902 |
C3 Glomerulopathy |
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Membranoproliferative glomerulonephritis, Lipodystrophy, Autoimmunity, Paraproteinemia, Elevated ... |
ORPHA:329918 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
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Splenomegaly, Decreased circulating antibody level, Lymphadenopathy, Abnormal natural killer cell... |
OMIM:613101 |
Leishmaniasis |
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Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Rhinitis, Increas... |
ORPHA:507 |
Hemochromatosis, Type 2A |
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Splenomegaly, Arthritis, Increased serum iron, Increased circulating ferritin concentration |
OMIM:602390 |
Systemic-Onset Juvenile Idiopathic Arthritis |
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Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Elevated circulating C-reactive protein ... |
ORPHA:85414 |
Chondrocalcinosis 2 |
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Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis |
OMIM:118600 |
Caffey Disease |
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Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase... |
ORPHA:1310 |
Systemic Lupus Erythematosus, Susceptibility To, 6 |
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Pericarditis, Antinuclear antibody positivity, Systemic lupus erythematosus, Arthritis, Malar rash |
OMIM:609939 |
Iga Pemphigus |
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Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... |
ORPHA:555905 |
Catastrophic Antiphospholipid Syndrome |
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Antiphospholipid antibody positivity, Anticardiolipin IgG antibody positivity, Myocarditis, Syste... |
ORPHA:464343 |
Legg-Calvé-Perthes Disease |
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Joint dislocation, Cartilage destruction |
ORPHA:2380 |
Autoimmune Polyendocrinopathy Type 4 |
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Osteopenia, Atrophic gastritis, Xerostomia, Tubulointerstitial nephritis, Leukopenia, Hashimoto t... |
ORPHA:227990 |
Pediatric Systemic Lupus Erythematosus |
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Lymphopenia, Myositis, Antiphospholipid antibody positivity, Skin rash, Discoid lupus rash, Antin... |
ORPHA:93552 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... |
OMIM:618213 |
Lymphangiectasia, Intestinal |
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Intestinal lymphangiectasia, Decreased circulating IgG level |
OMIM:152800 |
Igg4-Related Kidney Disease |
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Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Lymphadenitis,... |
ORPHA:449395 |
Autoimmune Polyendocrinopathy Type 3 |
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Osteopenia, Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Tubulointerstitial nep... |
ORPHA:227982 |
Immunodeficiency 57 With Autoinflammation |
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Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Decreased circulating antibody ... |
OMIM:618108 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
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Sinusitis, Pneumonia, Decreased response to growth hormone stimulation test, Enteroviral hepatiti... |
OMIM:307200 |
Hyper-Igd Syndrome |
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Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomega... |
OMIM:260920 |
Rheumatoid Arthritis |
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Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Joint stiffnes... |
OMIM:180300 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
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Pustule, Recurrent pneumonia, Secretory diarrhea, Increased circulating IgE level, Vomiting |
OMIM:616069 |
Multiple Myeloma |
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Osteopenia, Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating cr... |
ORPHA:29073 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
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Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co... |
OMIM:208250 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
Angel-Shaped Phalangoepiphyseal Dysplasia |
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Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os... |
OMIM:105835 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
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Autoimmune hemolytic anemia, Eczema, Autoimmunity, Autoimmune thrombocytopenia, Neutropenia in pr... |
OMIM:615952 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
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Scarring, Abnormality of the elbow, Increased circulating IgE level, Atrophic scars, Abnormality ... |
ORPHA:89843 |
X-Linked Immunoneurologic Disorder |
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Decreased circulating IgG2 level |
ORPHA:2571 |
Multiple Epiphyseal Dysplasia Type 1 |
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Abnormal acetabulum morphology, Joint stiffness, Osteoarthritis, Delayed epiphyseal ossification,... |
ORPHA:93308 |
Igg4-Related Pachymeningitis |
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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 |
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Sinusitis, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Chronic diarrhea, Lymphopenia, ... |
OMIM:102700 |
Psoriasis 14, Pustular |
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Neutrophilia, Psoriasiform dermatitis, Cholangitis, Elevated circulating C-reactive protein conce... |
OMIM:614204 |
Spondyloepiphyseal Dysplasia Tarda |
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Increased inflammatory response, Increased bone mineral density, Osteoarthritis of the distal int... |
ORPHA:93284 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
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Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, ... |
OMIM:616576 |
Adult-Onset Nemaline Myopathy |
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Neuromuscular dysphagia, Paraproteinemia, Flexion contracture, Mildly elevated creatine kinase |
ORPHA:171442 |
Melorheostosis |
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Increased bone mineral density, Joint stiffness, Atypical scarring of skin, Arthritis, Hyperostos... |
ORPHA:2485 |
Hemochromatosis, Type 4 |
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Increased circulating ferritin concentration, Osteoarthritis, Elevated transferrin saturation, An... |
OMIM:606069 |
Microcephalic Primordial Dwarfism, Toriello Type |
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Decreased circulating total IgM, Enamel hypoplasia, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
Hyperimmunoglobulinemia D With Periodic Fever |
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Gastrointestinal hemorrhage, Intestinal obstruction, Increased circulating IgA level, Peritonitis... |
ORPHA:343 |
Immunodeficiency 82 With Systemic Inflammation |
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Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, T l... |
OMIM:619381 |
Graft Versus Host Disease |
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Fasciitis, Myositis, Limited elbow movement, Gastrointestinal inflammation, Vomiting, Stiff inter... |
ORPHA:39812 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
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Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circula... |
OMIM:301074 |
Hip Dysplasia, Beukes Type |
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Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality of bone mi... |
ORPHA:2114 |
Sweet Syndrome |
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Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Increased circula... |
ORPHA:3243 |
Lesch-Nyhan Syndrome |
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Anemia, Hyperuricemia, Gout |
ORPHA:510 |
Chondrocalcinosis 1 |
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Osteoarthritis, Chondrocalcinosis |
OMIM:600668 |
Farber Lipogranulomatosis |
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Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Ulnar deviation ... |
OMIM:228000 |
Q Fever |
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Rheumatoid factor positive, Cholecystitis, Lupus anticoagulant, Infectious encephalitis, Maculopa... |
ORPHA:781 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... |
OMIM:256040 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Pancytopenia, Skin rash, Eczema, Elevated circulating C-reactive protein concentration, Erythema ... |
OMIM:615688 |
Coccidioidomycosis |
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Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Abscess, Eosinophilia, Erythema nodosum, Abnor... |
ORPHA:228123 |
Ectodermal Dysplasia And Immunodeficiency 1 |
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Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
Majeed Syndrome |
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Inflammatory abnormality of the skin, Osteomyelitis, Acne, Increased bone mineral density, Congen... |
ORPHA:77297 |
Purine Nucleoside Phosphorylase Deficiency |
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Sinusitis, Impaired T cell function, Pneumonia, Splenomegaly, Lymph node hypoplasia, Decreased ly... |
OMIM:613179 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
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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 |
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Hyponatremia, Elevated circulating C-reactive protein concentration, Pustule, Leukocytosis, Cheil... |
ORPHA:247353 |
Prolidase Deficiency |
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Eczema, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Crusting erythematous dermatitis, Sy... |
OMIM:170100 |
Cranio-Osteoarthropathy |
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Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Arthritis, Joint swelling, Abno... |
ORPHA:1525 |
Gaucher Disease Type 1 |
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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 |
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Increased circulating antibody level |
OMIM:114065 |
Pneumocystosis |
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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 |
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Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Delayed cranial suture closure, Craniosy... |
OMIM:620005 |
Lymphoid Interstitial Pneumonia |
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Skin rash, Eczema, Autoimmunity, Autoimmune antibody positivity, Bronchiectasis, Keratoconjunctiv... |
ORPHA:79128 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Osteopenia, Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Diarrhea, Osteoporosis, En... |
ORPHA:79259 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
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Joint laxity, Hip subluxation, Generalized joint laxity, Delayed epiphyseal ossification, Prematu... |
ORPHA:93360 |
Stickler Syndrome, Type I |
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Arthropathy, Joint stiffness, Osteoarthritis, Arthritis, Joint hypermobility |
OMIM:108300 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
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Arthritis, Cervical subluxation |
OMIM:184100 |
Al Amyloidosis |
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Gastrointestinal hemorrhage, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, ... |
ORPHA:85443 |
Alkaptonuria |
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Arthropathy, Vertebral fusion, Limited shoulder movement, Arthritis, Limited hip movement, Limita... |
OMIM:203500 |
Gaucher Disease Type 3 |
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Pancytopenia, Increased bone mineral density, Splenomegaly, Osteolysis, Increased susceptibility ... |
ORPHA:77261 |
Scleromyxedema |
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Elevated circulating creatine kinase concentration, Abnormality of thyroid physiology, Hypoperist... |
ORPHA:167635 |
Dysbetalipoproteinemia |
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Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertriglyceridemia, Gout, Increase... |
ORPHA:412 |
Japanese Encephalitis |
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Hyponatremia, Neutrophilia, Genu recurvatum, Stiff neck, Diarrhea, Elbow flexion contracture, Inc... |
ORPHA:79139 |
Aortic Aneurysm, Familial Thoracic 12 |
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Arthritis |
OMIM:619825 |
Autosomal Dominant Dopa-Responsive Dystonia |
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Hypothyroidism, Progressive flexion contractures, Transient hyperphenylalaninemia, Rheumatoid art... |
ORPHA:98808 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
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Elevated circulating creatinine concentration, Hyperuricemia, Gout |
ORPHA:79233 |
Dowling-Degos Disease |
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Arthritis, Acne inversa |
ORPHA:79145 |
Glycogen Storage Disease Ia |
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Hyperlipidemia, Osteoporosis, Gout, Hyperuricemia, Intermittent diarrhea, Pancreatitis |
OMIM:232200 |
Relapsing Polychondritis |
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Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Limitation of joint mobi... |
ORPHA:728 |
Dubowitz Syndrome |
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Inguinal hernia, Aplastic anemia, Eczema, Chronic diarrhea, Acute lymphoblastic leukemia, Gastroe... |
OMIM:223370 |
Congenital Tufting Enteropathy |
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Chronic diarrhea, Secretory diarrhea, Arthritis, Vomiting, Steatorrhea, Punctate keratitis |
ORPHA:92050 |
Yellow Fever |
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Acute pancreatitis, Neutrophilia, Skin rash, Increased circulating interleukin 6 concentration, E... |
ORPHA:99829 |
Okur-Chung Neurodevelopmental Syndrome |
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Inguinal hernia, Decreased circulating antibody level, Constipation, Umbilical hernia, Decreased ... |
OMIM:617062 |
Viss Syndrome |
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Chronic gastritis, Generalized joint laxity, Increased circulating IgG level, Gastroesophageal re... |
OMIM:619472 |
Blau Syndrome |
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Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Retrobulbar optic neuritis, Erythema... |
ORPHA:90340 |
Otospondylomegaepiphyseal Dysplasia |
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Abnormally ossified vertebrae, Enlarged joints, Abnormal joint morphology, Osteoarthritis, Limita... |
ORPHA:1427 |
Familial Mediterranean Fever |
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Pericarditis, Intestinal obstruction, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Peritoni... |
ORPHA:342 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
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Elevated circulating creatinine concentration, Gout, Tubulointerstitial nephritis, Hyperuricemia,... |
OMIM:174000 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Diarrhea, Hepatosplenomegaly, Decr... |
OMIM:618278 |
22Q11.2 Deletion Syndrome |
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Impaired T cell function, Hypoplasia of the thymus, Hypocalcemia, Gastroesophageal reflux, Chroni... |
ORPHA:567 |
Trichothiodystrophy 5, Nonphotosensitive |
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Chronic diarrhea, Chronic decreased circulating IgG1, Panhypopituitarism |
OMIM:300953 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
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Proximal phalangeal periosteal thickening, Osteolytic defects of the phalanges of the hand, Foot ... |
OMIM:161700 |
Kniest Dysplasia |
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Arthropathy, Enlarged joints, Joint stiffness, Delayed epiphyseal ossification, Abnormal joint mo... |
ORPHA:485 |
Oculocerebrorenal Syndrome Of Lowe |
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Hyperparathyroidism, Hypoammonemia, Periodontitis, Gastroesophageal reflux, Chronic otitis media,... |
ORPHA:534 |
Glycogen Storage Disease Ic |
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Cyclic neutropenia, Chronic pancreatitis, Hyperlipidemia, Gout, Inflammation of the large intesti... |
OMIM:232240 |
Kawasaki Disease |
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Pericarditis, Skin rash, Myocarditis, Leukocytosis, Diarrhea, Hepatitis, Cheilitis, Arthritis, Co... |
ORPHA:2331 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
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Gout |
OMIM:618061 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Osteoarthritis, Limited elbow extension, Genu varum |
OMIM:602111 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
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Abnormality of exocrine pancreas physiology, Abnormality of endocrine pancreas physiology, Arthri... |
ORPHA:93111 |
Cysticercosis |
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Iridocyclitis, Stiff neck, Infectious encephalitis, Increased circulating antibody level |
ORPHA:1560 |
Behcet Syndrome |
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Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Iritis |
OMIM:109650 |
Behçet Disease |
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Gastrointestinal hemorrhage, Increased inflammatory response, Myositis, Pericarditis, Acne, Orchi... |
ORPHA:117 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
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Increased circulating antibody level, Elevated circulating creatine kinase concentration, Elevate... |
OMIM:606002 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
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Joint laxity, Delayed epiphyseal ossification, Premature osteoarthritis, Hepatosplenomegaly, Gene... |
ORPHA:93352 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
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Abnormal acetabulum morphology, Limb joint contracture, Abnormal enchondral ossification, Delayed... |
ORPHA:93314 |
Trichinellosis |
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Skin rash, Increased circulating IgE level, Conjunctivitis, Dysphagia, Nausea |
ORPHA:863 |
Giant Cell Arteritis |
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Hyperhidrosis, Arthritis, Pericarditis, Joint stiffness |
ORPHA:397 |
Multiple Epiphyseal Dysplasia Type 4 |
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Dislocation of the femoral head, Joint stiffness, Premature osteoarthritis, Delayed femoral head ... |
ORPHA:93307 |
Dermatomyositis |
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Pericarditis, Abnormal eosinophil morphology, Autoimmunity, Myocarditis, Arthritis, Cellulitis, C... |
ORPHA:221 |
Trichorhinophalangeal Syndrome, Type I |
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Osteopenia, Osteoarthritis, Ivory epiphyses of the distal phalanges of the hand |
OMIM:190350 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Anhidrosis, Fasciitis, Osteomyelitis, Neuropathic arthropathy, Abscess, Corneal scarring, Hyperhi... |
ORPHA:642 |
Gitelman Syndrome |
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Diarrhea, Hypermagnesemia, Gout, Hyperhidrosis, Tubulointerstitial nephritis, Iron deficiency ane... |
ORPHA:358 |
Multiple Osteochondromas |
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Abnormality of the knee, Intestinal obstruction, Limitation of joint mobility, Abnormal carpal mo... |
ORPHA:321 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
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Flexion contracture, Premature osteoarthritis, Recurrent pneumonia, Enlarged joints |
OMIM:215150 |
Fabry Disease |
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Hyperlipidemia, Reduced bone mineral density, Hypohidrosis, Arthritis, Achalasia, Abnormal circul... |
ORPHA:324 |
Congenital Tricuspid Stenosis |
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Rheumatoid arthritis, Bacterial endocarditis |
ORPHA:95459 |
Immunoglobulin A Vasculitis |
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Episcleritis, Gastrointestinal hemorrhage, Skin rash, Orchitis, Pustule, Arthritis, Infectious en... |
ORPHA:761 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
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Hip osteoarthritis, Limitation of joint mobility |
OMIM:313400 |
Aapoaiv Amyloidosis |
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Hyperlipidemia, Paraproteinemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
Plague |
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Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Splenomegaly, Abnormality of the elbow, ... |
ORPHA:707 |
Marshall Syndrome |
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Osteoarthritis, Hypohidrosis, Genu valgum |
ORPHA:560 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
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Epiphyseal stippling, Arthrogryposis multiplex congenita, Abnormal cartilage matrix, Abnormal bon... |
ORPHA:86822 |
Loeys-Dietz Syndrome 6 |
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Hip osteoarthritis, Knee osteoarthritis, Intervertebral disc degeneration |
OMIM:619656 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
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Hyperuricemia, Gout |
OMIM:300661 |
Loeys-Dietz Syndrome 5 |
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Reduced subcutaneous adipose tissue, Inguinal hernia, Eosinophilic infiltration of the esophagus,... |
OMIM:615582 |
Osteogenesis Imperfecta |
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Osteopenia, Osteoarthritis, Flexion contracture, Hyperhidrosis, Decreased skull ossification, Dis... |
ORPHA:666 |
Aneurysm-Osteoarthritis Syndrome |
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Joint laxity, Osteoarthritis of the small joints of the hand, Inguinal hernia, Protrusio acetabul... |
ORPHA:284984 |
Encephalocraniocutaneous Lipomatosis |
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Craniofacial hyperostosis, Lipodystrophy, Bone cyst, Abnormal cartilage morphology, Osteolysis, M... |
ORPHA:2396 |
Classical Ehlers-Danlos Syndrome |
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Osteopenia, Inguinal hernia, Phalangeal dislocation, Hiatus hernia, Incisional hernia, Osteoarthr... |
ORPHA:287 |
Chronic Graft Versus Host Disease |
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Fasciitis, Pancytopenia, Urinary bladder inflammation, Diarrhea, Flexion contracture, Xerostomia,... |
ORPHA:99921 |
Simpson-Golabi-Behmel Syndrome |
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Omphalocele, Vertebral fusion, Inguinal hernia, Congenital hip dislocation, Camptodactyly of fing... |
ORPHA:373 |
Renal Cysts And Diabetes Syndrome |
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Elevated circulating creatinine concentration, Hyperuricemia, Gout, Exocrine pancreatic insuffici... |
OMIM:137920 |
Lethal Kniest-Like Dysplasia |
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Abnormal cartilage morphology, Abnormal cartilage matrix |
ORPHA:2347 |
Hypermobile Ehlers-Danlos Syndrome |
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Joint dislocation, Inguinal hernia, Elbow dislocation, Osteoarthritis, Limitation of joint mobili... |
ORPHA:285 |
Wiedemann-Rautenstrauch Syndrome |
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Osteopenia, Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Recurrent skin infections,... |
ORPHA:3455 |
Mucopolysaccharidosis Type 2, Severe Form |
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Inguinal hernia, Camptodactyly of finger, Splenomegaly, Flexion contracture, Limitation of joint ... |
ORPHA:217085 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Inguinal hernia, Camptodactyly of finger, Splenomegaly, Flexion contracture, Limitation of joint ... |
ORPHA:217093 |
Tetrasomy 9P |
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Joint dislocation, Myositis, Pericarditis, Abnormal dental enamel morphology, Systemic lupus eryt... |
ORPHA:3310 |
Stickler Syndrome |
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Joint dislocation, Protrusio acetabuli, Abnormal dental enamel morphology, Osteoarthritis, Hip di... |
ORPHA:828 |
Choreoacanthocytosis |
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Elevated circulating creatine kinase concentration, Acanthocytosis, Abnormal erythrocyte enzyme l... |
ORPHA:2388 |
Hunter-Macdonald Syndrome |
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Inguinal hernia, Premature osteoarthritis, Umbilical hernia, Camptodactyly, Cubitus valgus, Joint... |
OMIM:611962 |
Aspartylglucosaminuria |
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Inguinal hernia, Joint stiffness, Splenomegaly, Arthritis, Chronic otitis media, Umbilical hernia... |
ORPHA:93 |
Noonan Syndrome 1 |
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Cubitus valgus, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Synovitis |
OMIM:163950 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Gastroparesis, Sagittal craniosynostosis, Chronic diarrhea, Hyperextensible hand joints, Secretor... |
ORPHA:500150 |
Mucopolysaccharidosis Type 2 |
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Inguinal hernia, Splenomegaly, Limitation of joint mobility, Chronic diarrhea, Abnormal epiphysea... |
ORPHA:580 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
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Osteoarthritis |
OMIM:619714 |
Loeys-Dietz Syndrome 3 |
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Joint laxity, Uterine prolapse, Inguinal hernia, Protrusio acetabuli, Eosinophilic infiltration o... |
OMIM:613795 |
Hutchinson-Gilford Progeria Syndrome |
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Limitation of movement at ankles, Joint stiffness, Limited wrist movement, Osteoarthritis, Limita... |
ORPHA:740 |
Lacrimoauriculodentodigital Syndrome |
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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 |
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Reduced subcutaneous adipose tissue, Genu recurvatum, Protrusio acetabuli, Incisional hernia, Fle... |
OMIM:154700 |
Somatomammotropinoma |
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Elevated circulating growth hormone concentration, Osteoarthritis, Hyperhidrosis, Joint swelling,... |
ORPHA:314769 |
Ramon Syndrome |
|
Juvenile rheumatoid arthritis |
OMIM:266270 |
Vascular Ehlers-Danlos Syndrome |
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Joint dislocation, Inguinal hernia, Congenital hip dislocation, Osteoarthritis, Cigarette-paper s... |
ORPHA:286 |