Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... |
OMIM:613495 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 22 concentration, Crohn's disease, Recurrent lower respiratory tr... |
OMIM:619632 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Recurrent lower respiratory tract infections, Bronchiectasis, Recurrent oral herpes, Neutropenia ... |
OMIM:619220 |
Immunodeficiency 25 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... |
OMIM:610163 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... |
OMIM:605258 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Impaired Ig class switch recombination, Recurrent upper and lower respiratory tract... |
OMIM:608106 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Decreased circulating complement C3 concentration, Nephrotic syndrome, Membranoproliferative glom... |
OMIM:613779 |
C1Q Deficiency 1 |
|
Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus erythematosus, Recurrent i... |
OMIM:613652 |
Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Hydronephrosis, Chronic decreased circulating total IgG, Complete or... |
OMIM:613496 |
Immunodeficiency 64 With Lymphoproliferation |
|
Anti-thyroid peroxidase antibody positivity, Decreased lymphocyte proliferation in response to mi... |
OMIM:618534 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level, Glomerulonephritis, Pneumonia, Autoimmune hemolytic anemia |
OMIM:247800 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Nephrotic syndrome, Podocyte foot process effacement, Minimal change glomerulonephritis, Autoimmu... |
OMIM:617006 |
Systemic Lupus Erythematosus 16 |
|
Decreased circulating complement C3 concentration, Perinuclear antineutrophil antibody positivity... |
OMIM:614420 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Decreased circulating complement C3 concentration, Nephrotic syndrome, Acute kidney injury, Skin ... |
ORPHA:567544 |
Immunodeficiency 95 |
|
Increased circulating IgG3 level, Respiratory distress, Decreased circulating IgG3 level, Respira... |
OMIM:619773 |
C3 Glomerulopathy |
|
Decreased circulating complement C3 concentration, Glomerular extracapillary hypercellularity, Ne... |
ORPHA:329918 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Increased alpha-globulin, Polyarticular arthritis, Recurren... |
OMIM:235900 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Antinuclear antibody positivity, Anti-thyroid peroxidase antibody positivity, Skin rash, Anti-bet... |
OMIM:618048 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Recurrent sinusitis, Complete or near-complete absence of specif... |
OMIM:613494 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Pneumocystis jirovecii pneumonia, Recurrent bacterial infections... |
OMIM:300636 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Decreased circulating IgE, Recurrent bacterial infections... |
OMIM:606843 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level |
OMIM:242870 |
Immunodeficiency 86 |
|
Impaired oxidative burst, BCGitis, Increased circulating IgM level, Decreased circulating IgG level |
OMIM:619549 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent sinusitis, Antinuclear antibody positivity, Decreased circulating complement C3 concent... |
OMIM:615559 |
Autoimmune Lymphoproliferative Syndrome |
|
Antinuclear antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Autoimmune... |
OMIM:601859 |
Immunoglobulin A Deficiency 1 |
|
Autoimmunity, Recurrent infections, Decreased circulating IgA level, Recurrent respiratory infect... |
OMIM:137100 |
Immunodeficiency 61 |
|
Decreased circulating total IgM, Recurrent respiratory infections, Arthritis, Decreased circulati... |
OMIM:300310 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent ear infections, Bronchiectasis, Decreased circulating IgG2 level, Recurrent sinopulmona... |
OMIM:615513 |
Immunoglobulin A Deficiency 2 |
|
Autoimmunity, Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract,... |
OMIM:609529 |
Immunodeficiency, Common Variable, 3 |
|
Conjunctivitis, Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced... |
OMIM:613493 |
Immunodeficiency 24 |
|
Severe varicella zoster infection, Decreased circulating IgG level, Defective T cell proliferatio... |
OMIM:615897 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Hematuria, Increased circulating IgA level |
OMIM:314000 |
Asthma, Short Stature, And Elevated Iga |
|
Asthma, Increased circulating IgA level |
OMIM:208600 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... |
ORPHA:70593 |
Postinfectious Vasculitis |
|
Severe Epstein Barr virus infection, Ischemic stroke, Recurrent Staphylococcus aureus infections,... |
ORPHA:48435 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent opportunistic infections, Recurrent aphthous stomat... |
ORPHA:275 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating total IgM, Recurrent respiratory infections, Recurrent otitis media, Recurr... |
OMIM:613500 |
Immunodeficiency, Common Variable, 2 |
|
Conjunctivitis, Bronchiectasis, Recurrent bronchitis, Autoimmunity, Recurrent sinusitis, Recurren... |
OMIM:240500 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating total IgM, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, ... |
OMIM:613502 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Malar rash, Antinuclear antibody positivity, Antiphospholipid antibody positivity, Nephrotic synd... |
OMIM:603909 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Cutaneous abs... |
OMIM:618944 |
Eosinophilia, Familial |
|
Anemia, Myocardial eosinophilic infiltration, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Recurrent bronchitis, Autoimmunity, Nephritis, Complement deficiency |
OMIM:216950 |
Immunodeficiency 51 |
|
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Recurrent Staphylococcus aureus ... |
OMIM:613953 |
Leydig Cell Hypoplasia |
|
Female hypogonadism, Testicular gonadoblastoma, Ambiguous genitalia, Hyoplasia of the Leydig cell... |
ORPHA:755 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent urinary tract infections, Autoimmunity, Recurrent otitis media, Autoimmune hemolytic an... |
OMIM:618495 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sclerosing cholangitis, Meningitis, Impaired memory B cell generation, Sepsis, Decreased circulat... |
OMIM:308230 |
Immunodeficiency 62 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... |
OMIM:618459 |
Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent respiratory infections,... |
OMIM:611521 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Malar rash, Telangiectasia, Cytoplasmic antineutrophil antibody positivity, Skin rash, Raynaud ph... |
OMIM:615934 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Bronchiectasis, Recurrent otitis media, Increased circulating IgE le... |
OMIM:618982 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... |
OMIM:308220 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Conjunctivitis, Decreased circulating total IgM, Recurrent bronchitis, Chronic sinusitis, Recurre... |
OMIM:612692 |
Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM |
OMIM:236000 |
Adult Idiopathic Neutropenia |
|
Recurrent aphthous stomatitis, Recurrent bacterial infections, Helicobacter pylori infection, Rec... |
ORPHA:2688 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease, Reduced hemolytic complement activity, Decreased circulating com... |
OMIM:612446 |
Complement Component 4A Deficiency |
|
Glomerulonephritis, Decreased circulating complement C4 concentration, Systemic lupus erythematos... |
OMIM:614380 |
Complement Factor I Deficiency |
|
Decreased circulating complement factor B concentration, Septic arthritis, Decreased circulating ... |
OMIM:610984 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Pulmonary hemorrhage, Arthritis, Restrictive ventilatory defect, Dyspnea, Crescentic glomerulonep... |
OMIM:616414 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neonatal sepsis, Decreased lymphocyte proliferation in response to mitogen, Recurrent lower respi... |
ORPHA:169154 |
Caspase 8 Deficiency |
|
Decreased T cell activation, Decreased circulating total IgM, Asthma, Recurrent sinopulmonary inf... |
OMIM:607271 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Recurrent urinary tract infections, Reduced isohemaggluti... |
OMIM:614699 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Decreased circulating total IgM, Disseminated molluscum contagiosum, Bronchiectasis, Eosinophilic... |
OMIM:243700 |
Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Hepatomegaly, Myeloproliferative disorder, Eosi... |
OMIM:607685 |
Immunodeficiency 36 With Lymphoproliferation |
|
Persistent EBV viremia, Bronchiectasis, Autoimmunity, Recurrent bacterial infections, Recurrent u... |
OMIM:616005 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Bronchiectasis, Autoimmune thrombocytopenia, Impaired Ig class switch recombinatio... |
OMIM:608184 |
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Increased circulating beta-2-microglobulin level, Cryoglobulinemia, Monoclonal immunoglobulin M p... |
ORPHA:209004 |
Immunodeficiency, Common Variable, 1 |
|
Conjunctivitis, Decreased circulating total IgM, Bronchiectasis, Neutropenia in presence of anti-... |
OMIM:607594 |
Immunodeficiency 27A |
|
Rheumatoid factor positive, Abnormal bronchus physiology, Pneumonia, Increased circulating IgM le... |
OMIM:209950 |
Chilblain Lupus |
|
Malar rash, Inflammatory abnormality of the skin, Increased circulating antibody level, Skin rash... |
ORPHA:90280 |
Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Decreased circulating complement C7 concentration, Recurrent Nei... |
OMIM:610102 |
Simple Cryoglobulinemia |
|
Pericarditis, Viral hepatitis, Microscopic hematuria, Arthritis, Increased circulating IgM level,... |
ORPHA:91139 |
Complement Component 8 Deficiency, Type I |
|
Systemic lupus erythematosus, Meningitis, Decreased circulating complement C8 concentration |
OMIM:613790 |
Whim Syndrome 1 |
|
Bronchiectasis, Decreased circulating antibody level, Recurrent bacterial infections, Recurrent u... |
OMIM:193670 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating total IgM, Anti-thyroid peroxidase antibody positivity, Recurrent oral herp... |
OMIM:615577 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Absent isohemagglutinin level, Recurrent bronchitis, Recurrent otitis media, Recurrent bacterial ... |
OMIM:613501 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM |
OMIM:153600 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating total IgM, Recurrent respiratory infections, Recurrent sinusitis, Meningiti... |
OMIM:619707 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent Staphylococcus aureus infections, Sclerosing cholangitis, Decreased circulating beta-2-... |
ORPHA:572 |
Immune Deficiency, Familial Variable |
|
Recurrent infections, Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Thyroiditis, Keratoconjunctivitis sicca, Punctate keratitis, Corneal neovascularization, Uveitis,... |
OMIM:617388 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Retinal telangiectasia, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating total IgM, Reduced natural killer cell activity, Chronic oral candidiasis, ... |
OMIM:300400 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent opportunistic infections, Pulmonary insufficiency, Lack of T cell function, Anti-thyroi... |
ORPHA:277 |
Autoimmune Hepatitis |
|
Increased total bilirubin, Spider hemangioma, Fulminant hepatitis, Increased circulating antibody... |
ORPHA:2137 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections, Partial functional complement factor D deficiency |
OMIM:613912 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Severe Epstein Barr virus infection, Reduced natural killer cell activity, Decreased circulating ... |
OMIM:308240 |
Satoyoshi Syndrome |
|
Genu varum, Abnormality of the knee, Tapered finger, Sparse or absent eyelashes, Short stature, A... |
ORPHA:3130 |
Pgm3-Cdg |
|
Bronchiectasis, Reduced antigen-specific T cell proliferation, Eczema, Bone marrow hypocellularit... |
ORPHA:443811 |
Ring Chromosome Y Syndrome |
|
Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Unilateral cryptorchidism, Abno... |
ORPHA:261529 |
Selective Igm Deficiency |
|
Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Recurrent sta... |
ORPHA:331235 |
Immunodeficiency 23 |
|
Persistent EBV viremia, Severe varicella zoster infection, Bronchiectasis, Recurrent Staphylococc... |
OMIM:615816 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Autoimmunity, Autoimmune antibody positivity, Systemic lupu... |
ORPHA:411593 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Bronchiectasis, Viral hepatitis, Psoriasiform dermatitis, Pneumonia, Atopic dermatitis, Sepsis, D... |
ORPHA:183675 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Female infertility, Oocyte arrest at metaphase I, Polycystic ovaries, A... |
ORPHA:488191 |
Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, Recurrent viral infections, Autoimmunity, Decreased circulating a... |
ORPHA:169079 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia |
OMIM:257100 |
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent mycobacterial infections, Coccidioidomycosis, Lymphadenitis, Salmonella osteomyelitis, ... |
ORPHA:319552 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Decreased circulating complement C8 concentration, Recurrent Neisserial infections |
OMIM:613789 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Recurrent respiratory infections, Decreased circulating IgA level |
OMIM:137050 |
Müllerian Aplasia And Hyperandrogenism |
|
High anterior hairline, Acne, Short stature, Synophrys, Abnormality of the ovary, Brachydactyly, ... |
ORPHA:247768 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Abnormal circulating lipid concentration, Decreased circulating complement C3 concentration, Neph... |
OMIM:608709 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... |
OMIM:202700 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus, Complement deficiency |
OMIM:613791 |
Mannose-Binding Lectin Deficiency |
|
Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurrent Klebsiella inf... |
OMIM:614372 |
Androgen Insensitivity, Partial |
|
Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Abnormal rib cage mo... |
OMIM:312300 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Abnormal circulating IgG level, Reduced natural killer cell activity, Recurrent bacterial infecti... |
OMIM:300291 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
Immunodeficiency 102 |
|
Sepsis, Severe varicella zoster infection, Increased circulating interleukin 6 concentration, Dec... |
OMIM:301082 |
Complement Factor H Deficiency |
|
Depletion of components of the alternative complement pathway, Glomerular subendothelial electron... |
OMIM:609814 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent opportunistic infections, Recurrent bacterial skin infections, Recurrent cutaneous fung... |
ORPHA:276 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Decreased c... |
OMIM:616100 |
Immunodeficiency 44 |
|
Abnormal circulating IgG level, Decreased circulating total IgM, Post-vaccination measles, Severe... |
OMIM:616636 |
Iga Pemphigus |
|
Monoclonal elevation of circulating IgA, Neutrophilic infiltration of the skin, Cutaneous abscess... |
ORPHA:555905 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level |
OMIM:616911 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level |
OMIM:242880 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Disseminated molluscum contagiosum, Decreased circulating total IgM, Bronchiectasis, Asthma, Ulce... |
OMIM:617638 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis |
OMIM:162700 |
Schnitzler Syndrome |
|
Arthritis, Increased bone mineral density, Skin rash, Increased circulating IgM level, Vasculitis |
ORPHA:37748 |
Combined Immunodeficiency, X-Linked |
|
Recurrent bronchitis, Sinusitis, Otitis media, Pneumonia, Decreased circulating IgG level |
OMIM:312863 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Recurrent infections, Decreased specific antibody response to po... |
OMIM:616452 |
Igg4-Related Aortitis |
|
Antinuclear antibody positivity, Increased circulating IgG4 level, Increased circulating antibody... |
ORPHA:449400 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Patellar hypoplasia, Short stature, Shawl scrotum, Epicanthus, Congenital contracture, Clinodacty... |
ORPHA:261279 |
Heparin-Induced Thrombocytopenia |
|
Pulmonary embolism, Cerebral ischemia, Autoimmune thrombocytopenia, Myocardial infarction, Increa... |
ORPHA:3325 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Decreased circulating complement C3 concentration, Nephrotic syndrome, Hematuria, Membranoprolife... |
OMIM:613913 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Erythroderma, Chronic oral candidiasis, Decreased lymphocyte proliferation in response to mitogen... |
ORPHA:169160 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Severe infection, Anti-glutamic acid decarboxylase antibody positivity, Hepatitis, Arthritis, Ecz... |
OMIM:304790 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Bronchiectasis, Telangiectases of the cheeks, Recurrent upper re... |
OMIM:615139 |
Ovarian Dysgenesis 7 |
|
Delayed puberty, Hypoplasia of the uterus, Primary amenorrhea |
OMIM:618117 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Thymoma |
|
Decreased circulating antibody level, Rheumatoid arthritis, Anti-acetylcholine receptor antibody ... |
ORPHA:99867 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Recurrent sinopulmonary infecti... |
OMIM:618394 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Reduced antigen-specific T cell proliferation, Eczema, Increased circulating IgM level, Reduced d... |
OMIM:617241 |
Ovarian Dysgenesis 2 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hirsutism, Hypergonadotro... |
OMIM:300510 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Conjunctivitis, 2-3 toe syndactyly, Sparse body hair, Absent eyelashes, Ankyloblepharon, Vaginal ... |
OMIM:106260 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Crusting erythematous dermatitis, Anti-liver cytosolic antigen type 1... |
ORPHA:37042 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating total IgM, Decreased circulating antibody level, Pneumocystis jirovecii pne... |
OMIM:614069 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia |
ORPHA:517 |
Immunodeficiency 50 |
|
Recurrent urinary tract infections, Recurrent respiratory infections, Eczema, Decreased circulati... |
OMIM:300988 |
Diethylstilbestrol Syndrome |
|
Decreased fertility in females, Abnormal testis morphology, Small for gestational age, Premature ... |
ORPHA:1916 |
Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Hepatitis, Autoimmunity, Conjugated hyperbilirubinemia,... |
ORPHA:186 |
Ige Responsiveness, Atopic |
|
Asthma, Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating total IgM, Recurrent sinusitis, Defective B cell differentiation, Decreased... |
OMIM:617765 |
Acute Lung Injury |
|
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... |
ORPHA:178320 |
Immunodeficiency 14B, Autosomal Recessive |
|
Candida esophagitis, Decreased circulating total IgM, Reduced natural killer cell activity, Recur... |
OMIM:619281 |
Autoimmune Lymphoproliferative Syndrome |
|
Glomerulonephritis, Gastritis, Bone marrow hypocellularity, Panniculitis, Colitis, Antinuclear an... |
ORPHA:3261 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Decreased circulating total IgM, Decreased lymphocyte proliferation in response to... |
ORPHA:331206 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Recurrent fractures, Recurrent Staphylococcus aureus infections, Craniosynostosis, Skin rash, Rec... |
OMIM:147060 |
Bare Lymphocyte Syndrome, Type Ii |
|
Panhypogammaglobulinemia, Infectious encephalitis, Recurrent urinary tract infections, Chronic mu... |
OMIM:209920 |
C3 Glomerulopathy 3 |
|
Mesangial matrix expansion, Stage 5 chronic kidney disease, Thickening of glomerular capillary wa... |
OMIM:614809 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Atopic dermatitis, Recurrent respiratory infections, Asthma,... |
ORPHA:217390 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Methicillin-resistant Staphylococcus aureus infection, Osteomyelitis, Chronic oral candidiasis, B... |
OMIM:618282 |
Immunodeficiency 43 |
|
Decreased specific antibody response to polysaccharide vaccine, Bronchiectasis, Hypoproteinemia, ... |
OMIM:241600 |
Immunodeficiency 96 |
|
Multicystic kidney dysplasia, Decreased circulating total IgM, Defective T cell proliferation, Ec... |
OMIM:619774 |
Premature Ovarian Failure 7 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Absent pubic hair, Elevated circulating lu... |
OMIM:612964 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Anti-U1 ribonucleoprotein antibody positivity, Thyroiditis, Autoimmune thrombocytopenia, Glomerul... |
OMIM:619375 |
Tubulointerstitial Nephritis With Uveitis |
|
Acute tubulointerstitial nephritis, Uveitis, Circulating immune complexes, Glomerulonephritis, Re... |
OMIM:607665 |
Immunodeficiency 22 |
|
Decreased circulating total IgM, Chronic oral candidiasis, Autoimmunity, Decreased circulating Ig... |
OMIM:615758 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating antibody level, Decreased serum creatinine, Hypohomocysteinemia, Decreased ... |
OMIM:617744 |
Immunodeficiency 70 |
|
Decreased circulating total IgM, Decreased circulating antibody level, Recurrent sinusitis, Decre... |
OMIM:618969 |
Immunodeficiency, Common Variable, 11 |
|
Crohn's disease, Inflammation of the large intestine, Recurrent respiratory infections, Increased... |
OMIM:615767 |
Zika Virus Disease |
|
Conjunctivitis, Wrist swelling, Myelitis, Skin rash, Arthritis, Ankle swelling, Meningitis, Incre... |
ORPHA:448237 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Recurrent aphthous stomatitis, Arthritis, Limitation of joint mobility, Increased circulating IgA... |
ORPHA:343 |
Thymic Aplasia |
|
Hypocalcemic tetany, Opportunistic infection, Recurrent Staphylococcus aureus infections, Meningi... |
ORPHA:83471 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Skin rash, Increased circulating IgA level, Panniculitis, Increased circulating IgM level, Joint ... |
OMIM:617099 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the elbow, Short stature, Epicanthus, Synophrys, Clinodactyly o... |
ORPHA:3268 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Recurrent infections, Decreased circulating total IgM |
OMIM:606445 |
Panniculitis-Induced Localized Lipodystrophy |
|
Abnormal immunoglobulin level, Antinuclear antibody positivity, Vasculitis in the skin, Inflammat... |
ORPHA:90159 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Conjunctivitis, Recurrent opportunistic infections, Panhypogammaglobulinemia, Purulent rhinitis, ... |
OMIM:601457 |
Systemic Lupus Erythematosus |
|
Malar rash, Antiphospholipid antibody positivity, Arthritis, Nephritis, Pericarditis, Systemic lu... |
OMIM:152700 |
Limb-Mammary Syndrome |
|
Alopecia, Sparse eyebrow, Aplasia of the ovary, Absent lacrimal punctum, Toe syndactyly, 3-4 fing... |
ORPHA:69085 |
Boutonneuse Fever |
|
Skin rash, Increased circulating IgM level, Respiratory failure, Renal insufficiency, Maculopapul... |
ORPHA:83313 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent opportunistic infections, Decreased lymphocyte proliferation in response to mitogen, Re... |
OMIM:613179 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Bronchiectasis, Joint contracture of the hand, Arthropathy, Craniosynostosis, Hip dislocation, Ec... |
OMIM:618523 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Increased susceptibility to fractures, Decreased circulating total IgM, Bronchiectasis, Asthma, C... |
OMIM:619752 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Recurrent bronchopulmonary infections, Decreased circulating total IgM |
OMIM:610798 |
Adult Acute Respiratory Distress Syndrome |
|
Hypotension, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis fac... |
ORPHA:70578 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia |
ORPHA:48 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased circulating IgE, Recurrent pneumonia, Decreased circul... |
OMIM:619824 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Autoimmunity, Autoimmune thrombocytopenia, Recurrent infect... |
OMIM:614470 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadoblastoma, Abnormality of female external genitalia, Infertility, Male hypogonadism, Abnorma... |
ORPHA:168563 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Short stature, Bicornuate uterus, Azoospermia, Sprengel anomaly, Abnormal rib morphology, Hypopla... |
OMIM:601076 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Recurrent otitis media, Agammaglobulinemia, Recurrent infections, Post-vaccination polio |
OMIM:616941 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... |
OMIM:212050 |
Wiskott-Aldrich Syndrome |
|
Large vessel vasculitis, Recurrent sinusitis, Eczema, Decreased specific anti-polysaccharide anti... |
OMIM:301000 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granulomatous cholangitis, Anti-liver cytosolic antigen type 1 antibody positivity, Sclerosing ch... |
ORPHA:562639 |
Satoyoshi Syndrome |
|
Osteolytic defects of the phalanges of the hand, Alopecia, Genu valgum, Short metacarpal, Short s... |
OMIM:600705 |
Seckel Syndrome 7 |
|
Abnormal carpal morphology, Short middle phalanx of the 5th finger, Hip dysplasia, Clinodactyly o... |
OMIM:614851 |
Nephrotic Syndrome, Type 23 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Mesangial hyper... |
OMIM:619201 |
Hyper-Igd Syndrome |
|
Lymphadenitis, Elevated urine mevalonic acid level, Chronic oral candidiasis, Renal angiomyolipom... |
OMIM:260920 |
Macrosomia Adiposa Congenita |
|
Eosinophilia |
OMIM:248100 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Conjunctivitis, Septic arthritis, Panhypogammaglobulinemia, Enteroviral dermatomyositis syndrome,... |
OMIM:307200 |
Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating antibody level, Acute kidney injury, Decre... |
ORPHA:859 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Aplasia/Hypoplasia involving the metacarpal b... |
ORPHA:570 |
Lassa Fever |
|
Conjunctivitis, Shock, Dyspnea, Cough, Increased circulating IgM level, Oliguria, Sepsis |
ORPHA:99824 |
Premature Ovarian Failure 13 |
|
Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen... |
OMIM:617442 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Diffuse Alveolar Hemorrhage |
|
Decreased circulating complement C3 concentration, Antiphospholipid antibody positivity, Hypoxemi... |
ORPHA:90060 |
Immunodeficiency 52 |
|
Persistent EBV viremia, Bronchiectasis, Decreased circulating antibody level, Autoimmune thromboc... |
OMIM:617514 |
Perrault Syndrome 6 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... |
OMIM:617565 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Female hypogonadism, Sparse body hair, Impotence, Secondary amenorrhea, Decreased testicular size... |
ORPHA:432 |
Idiopathic Pulmonary Hemosiderosis |
|
Heart murmur, Diffuse alveolar hemorrhage, Autoimmune antibody positivity, Rheumatoid factor posi... |
ORPHA:99931 |
Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Elevated circulating f... |
OMIM:612310 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Bronchiectasis, Decreased circulating antibody level, Recurrent sinopulmonary... |
OMIM:616576 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Conjunctivitis, Sparse eyebrow, Sparse eyelashes, Folliculitis, Scarring alopecia of scalp, Ectro... |
OMIM:308800 |
Nephrotic Syndrome, Type 15 |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Steroid-resistant... |
OMIM:617609 |
Angiostrongyliasis |
|
Stiff neck, Unusual CNS infection, Increased circulating specific IgE antibody, Meningitis, Incre... |
ORPHA:74 |
Generalized Eruptive Histiocytosis |
|
Hypereosinophilia, Histiocytosis, Leukemia |
ORPHA:157991 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:618987 |
Clouston Syndrome |
|
Conjunctivitis, Alopecia, Sparse eyebrow, Short stature, Brittle hair, Alopecia totalis, Fine hai... |
OMIM:129500 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, Decreased circulating antibody level |
OMIM:616873 |
Acute Zonal Occult Outer Retinopathy |
|
Retinal pigment epithelial atrophy, Macular drusen, Rod-cone dystrophy, Abnormal choroid morpholo... |
ORPHA:284454 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits |
ORPHA:69063 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
Testicular Agenesis |
|
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... |
ORPHA:325124 |
Subcorneal Pustular Dermatosis |
|
Rheumatoid arthritis, Increased circulating antibody level, Autoimmunity, Pustule, Systemic lupus... |
ORPHA:48377 |
Premature Ovarian Failure 3 |
|
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea |
OMIM:608996 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Thyroiditis, Increased circulating IgE level, Recurrent infections, Eczema |
OMIM:618985 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Primary amenorrhea, Decreased testicular size, Hypoplasia of the ovary, Delayed puberty, Absent p... |
OMIM:614841 |
X-Linked Lymphoproliferative Disease |
|
Severe Epstein Barr virus infection, Myocarditis, Hypertriglyceridemia, Decreased circulating tot... |
ORPHA:2442 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Conjunctivitis, Alopecia, Sparse eyebrow, Enamel hypoplasia, Folliculitis, Scarring alopecia of s... |
OMIM:612843 |
Nephrotic Syndrome, Type 10 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Steroid-resistant nephrotic ... |
OMIM:615861 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Irregular menstruation, Premature ovarian insufficiency, Blepharophimosis, Sparse pubic hair, Mic... |
OMIM:110100 |
Immunodeficiency 85 And Autoimmunity |
|
Persistent EBV viremia, Oligoarthritis, Decreased circulating total IgM, Eczema, Decreased circul... |
OMIM:619510 |
Ovarian Dysgenesis 5 |
|
Short stature, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated circu... |
OMIM:617690 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:618078 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Enterocolitis, Decreased circulating total IgM, Interstitial pneumonitis, Recurrent sinopulmonary... |
OMIM:614878 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic-uremic syndrome, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney diseas... |
OMIM:615008 |
Complement Factor B Deficiency |
|
Decreased circulating complement factor B concentration, Recurrent meningococcal disease, Recurre... |
OMIM:615561 |
Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Increased circulating IgG4 level, Prostatitis, Sclerosing cholangiti... |
ORPHA:449395 |
Insulin-Resistance Syndrome Type B |
|
Decreased circulating complement factor B concentration, Abnormal circulating lipid concentration... |
ORPHA:2298 |
Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Increased circulating interleukin 6 concentration, Abnormality of tumor nec... |
ORPHA:158061 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Bronchiectasis, Recurrent sinusitis, Colitis, Pneumonia, Sepsis, Decreased circulating IgG level,... |
OMIM:614700 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Reduced delayed hypersensitivity |
OMIM:607624 |
Schimke Immuno-Osseous Dysplasia |
|
Nephrotic range proteinuria, Ischemic stroke, Impaired T cell function, Bone marrow hypocellulari... |
ORPHA:1830 |
Immunodeficiency 48 |
|
Panhypogammaglobulinemia, Pneumonia, Recurrent candida infections, Recurrent respiratory infectio... |
OMIM:269840 |
Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Abnormal morphology of the chordae tendinae of the mitral valve, Left... |
ORPHA:75566 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed puberty, Elevated circulating l... |
OMIM:619665 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating total IgM, Inflammatory abnormality of the skin, Asthma, Skin rash, Decreas... |
OMIM:102700 |
Perrault Syndrome 4 |
|
Primary amenorrhea, Secondary amenorrhea, Premature ovarian insufficiency, Bicornuate uterus, Hyp... |
OMIM:615300 |
Bacterial Toxic-Shock Syndrome |
|
Hypotension, Septic arthritis, Fasciitis, Elevated circulating creatine kinase concentration, Myo... |
ORPHA:36234 |
Interstitial Lung Disease 2 |
|
Pulmonary arterial hypertension, Exertional dyspnea, Increased circulating antibody level, Dyspne... |
OMIM:178500 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Eczematoid dermatitis, Recurrent bacterial infections, Agammaglobulinemia, Seborrheic dermatitis |
OMIM:619693 |
Hypocomplementemic Urticarial Vasculitis |
|
Glomerulopathy, Inflammatory abnormality of the eye, Pleural effusion, Airway obstruction, Mening... |
ORPHA:36412 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:619011 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Decreased fertility, Sparse body hair, Hypogonadism, Short stature, Decreased testicular size, Hy... |
ORPHA:2234 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:277180 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media |
OMIM:616022 |
Catastrophic Antiphospholipid Syndrome |
|
Pulmonary arterial hypertension, Pulmonary embolism, Arterial occlusion, Abnormality of serum cyt... |
ORPHA:464343 |
Lysinuric Protein Intolerance |
|
Respiratory insufficiency, Hyperlysinuria, Ornithinuria, Glomerulonephritis, Hypercholesterolemia... |
ORPHA:470 |
Halothane Hepatitis |
|
Eosinophilia |
OMIM:234350 |
Multiple Myeloma |
|
Decreased circulating antibody level, Acute kidney injury, Nephrotic syndrome, Abnormality of the... |
ORPHA:29073 |
Cornelia De Lange Syndrome |
|
Toe syndactyly, Synophrys, Hypoplastic labia majora, Hip dislocation, Elbow dislocation, Pectus e... |
ORPHA:199 |
Agammaglobulinemia, X-Linked |
|
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... |
OMIM:300755 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Recurrent respiratory infections, Decreased circulating IgG level |
OMIM:233650 |
Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Flexion contracture, Nephrotic syndrome, Enlarged kidney, Recurrent bronch... |
OMIM:617303 |
Primary Membranoproliferative Glomerulonephritis |
|
Decreased circulating complement C3 concentration, Renal insufficiency, Nephrotic syndrome, Acute... |
ORPHA:54370 |
Perrault Syndrome 3 |
|
Streak ovary, Short stature, Elevated circulating luteinizing hormone level, Hypergonadotropic hy... |
OMIM:614129 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Short stature, Developmental cataract, Failure to thrive, Delayed puberty, Psoriasiform dermatiti... |
OMIM:616834 |
Complement Component C1S Deficiency |
|
Abnormality of complement system, Hashimoto thyroiditis, Systemic lupus erythematosus, Hepatitis |
OMIM:613783 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level, Skin rash, Vasculitis in the skin |
ORPHA:90000 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Panhypogammaglobulinemia, Recurrent respiratory infections, Erythema nodosum, Recurrent infection... |
OMIM:615214 |
Lymphoproliferative Syndrome 1 |
|
Persistent EBV viremia, Decreased circulating antibody level, Autoimmunity, Stomatitis, Autoimmun... |
OMIM:613011 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Pulmonary embolism, Abnormal circulating lipid concentration, Hypertriglyceridemia, Abnormal urin... |
ORPHA:567548 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent mycobacterial infections, Recurrent opportunistic infections, Recurrent bacterial skin ... |
ORPHA:911 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Symmetric polyarthritis, Synovitis, Limitation of joint mobility, Rheumatoid factor positive, Pro... |
ORPHA:85435 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Severe varicella zoster infection, Recurrent respiratory infections, Chronic oral candidiasis, Th... |
OMIM:606367 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
Kid Syndrome |
|
Coxa valga, Corneal erosion, Acne inversa, Keratoconjunctivitis sicca, Punctate keratitis, Recurr... |
ORPHA:477 |
Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent viral infections, Osteoporosis |
OMIM:615468 |
Focal Segmental Glomerulosclerosis 10 |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien... |
OMIM:256020 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Conjunctivitis, Panhypogammaglobulinemia, Recurrent respiratory infections, Bronchiectasis, Decre... |
OMIM:601495 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Crohn's disease, Increased circulating antibody level, Arthritis, Limitation of joint mobility, M... |
ORPHA:69126 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Septic arthritis, Decreased circulating antibody level, Hyperhomocystinemia, Autoimmunity, Eczema... |
OMIM:617780 |
Igg4-Related Retroperitoneal Fibrosis |
|
Large vessel vasculitis, Psoriasiform dermatitis, Membranous nephropathy, Acute kidney injury, De... |
ORPHA:49041 |
Immunodeficiency 92 |
|
Osteomyelitis, Recurrent oral herpes, Sclerosing cholangitis, Esophagitis, Cholangitis, BCGosis, ... |
OMIM:619652 |
Immunodeficiency 105 |
|
Decreased circulating total IgM, Decreased circulating antibody level, Skin rash, Decreased circu... |
OMIM:619924 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse body hair, Sparse eyebrow, Curly hair, Pili torti, Brittle hair, Corneal opacity, Curly ey... |
OMIM:602400 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Hypertension, Increased circulating IgE level, Recurrent pneumonia, Pustule, Recurrent bronchiolitis |
OMIM:616069 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Atopic dermatitis, Asthma, Hypoxemia, Autoimmunity, Pleural effusion, Crackles, Nonproductive cou... |
ORPHA:2902 |
Xeroderma Pigmentosum |
|
Alopecia, Entropion, Hypogonadism, Short stature, Decreased testicular size, Ankyloblepharon, Pte... |
ORPHA:910 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Primary amenorrhea, Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypo... |
OMIM:614837 |
Premature Ovarian Failure 18 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... |
OMIM:619203 |
Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Hepatomegaly, Eosinophilia, Impaired oxidative burst, Thromb... |
OMIM:226990 |
Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Patchy alopecia, Hepatomegaly, Neutropenia, Splen... |
OMIM:615387 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Short stature, Bicornuate uterus, Azoospermia, Low posterior hairline, Abnormal rib morphology, A... |
ORPHA:2578 |
Thrombocytopenia 1 |
|
Eczema, Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Joint hemorr... |
OMIM:313900 |
X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level, Recurrent respiratory infections, Functional abnormality of the... |
ORPHA:2571 |
Immunodeficiency 91 And Hyperinflammation |
|
Hemolytic-uremic syndrome, Pulmonary hemorrhage, Extrapulmonary tuberculosis, Nephrotic syndrome,... |
OMIM:619644 |
Amed Syndrome, Digenic |
|
Short stature, Failure to thrive, Telecanthus, Long thumb, Hypoplasia of the uterus |
OMIM:619151 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Female infertility, Delayed puberty, Primary amenorrhea |
OMIM:300604 |
Eec Syndrome |
|
Hypoplasia of the thymus, Corneal erosion, Toe syndactyly, Anterior hypopituitarism, Inflammatory... |
ORPHA:1896 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Bronchiectasis, Sinusitis, Decreased circulating IgA level, Increased circulating IgM level, Pneu... |
OMIM:242860 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:617743 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Kimura Disease |
|
Eosinophilia |
ORPHA:482 |
Nephrotic Syndrome, Type 6 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... |
OMIM:614196 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Immunodeficiency 15B |
|
Chronic oral candidiasis, Decreased lymphocyte proliferation in response to mitogen, Decreased ci... |
OMIM:615592 |
Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:617783 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Pemphigus Vulgaris, Familial |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Pneumocystosis |
|
Respiratory insufficiency, Chronic oral candidiasis, Exertional dyspnea, Increased circulating an... |
ORPHA:723 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Primary amenorrhea, Hypoplasia of the uterus, Decreased fertility, Sparse body hair, Enlarged pol... |
ORPHA:90796 |
Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Short phalanx of finger, Short toe, Short femo... |
OMIM:609441 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis, Recurrent lower respiratory tract infections, Recurrent abscess format... |
OMIM:613860 |
Trichothiodystrophy 3, Photosensitive |
|
Recurrent infections, Increased circulating IgA level |
OMIM:616395 |
Hyperprolactinemia |
|
Female infertility, Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea |
OMIM:615555 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Decreased circulating antibody level, Interstitial pneumonitis, Neutropenia in presence of anti-n... |
OMIM:615952 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Mosaic Trisomy 14 |
|
Camptodactyly of finger, Blepharophimosis, Narrow chest, Hypoplasia of penis, Failure to thrive, ... |
ORPHA:1703 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Cinca Syndrome |
|
Anemia, Hepatosplenomegaly, Leukocytosis, Eosinophilia, Papilledema |
OMIM:607115 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:300861 |
Immunodeficiency 97 With Autoinflammation |
|
Enterocolitis, Decreased circulating total IgM, Decreased circulating antibody level, Recurrent u... |
OMIM:619802 |
Pauci-Immune Glomerulonephritis |
|
Nephrotic range proteinuria, Scleritis, Cytoplasmic antineutrophil antibody positivity, Glomerulo... |
ORPHA:93126 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Immunodeficiency 37 |
|
Infectious encephalitis, Colitis, Recurrent infections, Decreased circulating antibody level |
OMIM:616098 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level, Recurrent respiratory infections, Recurrent infections |
OMIM:614102 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Dyskeratosis Congenita |
|
Alopecia, Abnormal eyebrow morphology, Abnormal testis morphology, Premature graying of hair, Sho... |
ORPHA:1775 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Toe syndactyly, Fair hair, Blue irides, Sparse eyelashes, Ectrodactyly, Blepharophimosis, Sparse ... |
OMIM:604292 |
Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Brucellosis |
|
Sacroiliac arthritis, Septic arthritis, Hip osteoarthritis, Pericarditis, Glomerulonephritis, Ple... |
ORPHA:1304 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Severe infection, Limitation of movement at ankles, Limited hip movement, Limited elbow flexion, ... |
ORPHA:206594 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Oligoarthritis, Rheumatoid arthritis, Autoimmunity, Uveitis, Increased circulating interferon-gam... |
ORPHA:85410 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Toe syndactyly, Fair hair, Blue irides, Sparse eyelashes, Sparse hair, Telecanthus, Blepharophimo... |
OMIM:129900 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Enlarged kidney, Recurrent infections |
OMIM:615285 |
Sneddon Syndrome |
|
Ischemic stroke, Decreased circulating total IgM, Cerebral hemorrhage, Hypertension, Antiphosphol... |
OMIM:182410 |
Flotch Syndrome |
|
Abnormal eyelid morphology, Inflammatory abnormality of the eye, Abnormal eyelash morphology, Spa... |
ORPHA:2045 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Brachydactylous Dwarfism, Mseleni Type |
|
Protrusio acetabuli, Hip osteoarthritis, Autoimmunity, Abnormality of the wrist, Limitation of jo... |
ORPHA:2619 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Increased circulating interleukin 6 concentration, Reduced natural killer c... |
ORPHA:540 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Camptodactyly of finger, Abnormal nasolacrimal system morphology, Corneal erosion, Scleritis, Ecz... |
ORPHA:2273 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Tubulointerstitial nephritis, Increased circulating IgG4 level, Cytoplasmic antineutrophil antibo... |
ORPHA:79078 |
Complete Androgen Insensitivity Syndrome |
|
Sparse axillary hair, Bilateral cryptorchidism, Sparse pubic hair, Absent axillary hair, Aplasia ... |
ORPHA:99429 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Flexion contracture, Hypertrophic cardiomyopathy, Airway obstruction, Bone marrow hypocellularity... |
ORPHA:505248 |
Roifman Syndrome |
|
Ventricular septal defect, Retinal dystrophy, Noncompaction cardiomyopathy, Prominent eyelashes, ... |
OMIM:616651 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hypertriglyceridemia, Decreased circulating antibody level, Hepatitis, Folliculitis, Erythema nod... |
OMIM:300635 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:619245 |
Immunodeficiency 67 |
|
Recurrent staphylococcal infections, Increased circulating IgE level, Recurrent streptococcal inf... |
OMIM:607676 |
Tularemia |
|
Conjunctivitis, Brain abscess, Erythema nodosum, Increased circulating antibody level, Skin rash,... |
ORPHA:3392 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Sacroiliac arthritis, Malar rash, Oligoarthritis, Abnormality of the knee, Generalized morning st... |
ORPHA:85436 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
S-shaped palpebral fissures, Thick eyebrow, Telecanthus, Hypoplasia of the uterus, Decreased fert... |
ORPHA:572333 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Osteolysis, Nephropathy, Bence Jones Proteinuria, Osteoporosis |
ORPHA:100024 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
Testicular Regression Syndrome |
|
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... |
ORPHA:983 |
Prolidase Deficiency |
|
Crusting erythematous dermatitis, Increased circulating antibody level, Asthma, Eczema, Recurrent... |
OMIM:170100 |
Hemorrhagic Fever-Renal Syndrome |
|
Hypotension, Acute tubulointerstitial nephritis, Pleural effusion, Glomerulonephritis, Shock, Pal... |
ORPHA:340 |
Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... |
OMIM:616730 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent opportunistic infections, Lack of T cell function, Decreased circulating total IgM, Dec... |
ORPHA:35078 |
Peeling Skin Syndrome 1 |
|
Nail dystrophy, Eosinophilia, Brittle hair |
OMIM:270300 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Recurrent respiratory infections, Decreased circulating total IgM, Decreased circulating IgG level |
ORPHA:2643 |
Estrogen Resistance |
|
Breast aplasia, Delayed puberty, Polycystic ovaries, Primary amenorrhea, Acne, Hypoplasia of the ... |
OMIM:615363 |
Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections, Bro... |
OMIM:608957 |
Autosomal Agammaglobulinemia |
|
Conjunctivitis, Osteomyelitis, Bronchiectasis, Hepatitis, Skin rash, Arthritis, Agammaglobulinemi... |
ORPHA:33110 |
Acrodermatitis Enteropathica |
|
Conjunctivitis, Alopecia, Abnormal eyebrow morphology, Abnormal eyelid morphology, Corneal erosio... |
ORPHA:37 |
Systemic Sclerosis |
|
Osteolytic defects of the phalanges of the hand, Flexion contracture, Elevated circulating creati... |
ORPHA:90291 |
Palmoplantar Keratoderma, Epidermolytic |
|
Increased circulating IgE level |
OMIM:144200 |
Coccidioidomycosis |
|
Unusual CNS infection, Exudative pleural effusion, Abnormality of the bladder, Pericarditis, Oste... |
ORPHA:228123 |
X-Linked Agammaglobulinemia |
|
Conjunctivitis, Osteomyelitis, Hepatitis, Skin rash, Arthritis, Autoimmunity, Recurrent cutaneous... |
ORPHA:47 |
Androgen Insensitivity Syndrome |
|
Sparse axillary hair, Ambiguous genitalia, male, Sparse pubic hair, Abnormality of the uterus, In... |
ORPHA:754 |
Systemic Lupus Erythematosus 17 |
|
Malar rash, Decreased circulating complement C3 concentration, Myelitis, Raynaud phenomenon, Anti... |
OMIM:301080 |
Poikiloderma With Neutropenia |
|
Conjunctivitis, Sparse eyebrow, Sparse lateral eyebrow, Short stature, Skin rash, Recurrent sinus... |
OMIM:604173 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Cherubism |
|
Macular scar, Optic neuropathy, Marcus Gunn pupil |
OMIM:118400 |
Tempi Syndrome |
|
Telangiectasia, Abnormality of the kidney, Hypoxemia, Intracranial hemorrhage, Transudative pleur... |
ORPHA:284227 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Osteomyelitis, Decreased circulating total IgM, Cerebral hemorrhage, Decreased circulating antibo... |
OMIM:301081 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Abnormally low T cell receptor excision circle level, Thin eyebrow, Eosinophilia |
OMIM:618092 |
Cystic Echinococcosis |
|
Invasive parasitic infection, Increased circulating antibody level, Asthma, Hyperbilirubinemia, U... |
ORPHA:400 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Upslanted palpebral fissure, Short thorax, Missing ribs, Posterior rib fusion, Spina bifida occul... |
ORPHA:1797 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Metatarsus valgus, Upslanted palpebral fissure, Aplasia/Hypoplasia of the eyebrow, Short stature,... |
ORPHA:3082 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Renal Cysts And Diabetes Syndrome |
|
Pancreatic hypoplasia, Atretic vas deferens, Bicornuate uterus, Reduced sperm motility, Epididyma... |
OMIM:137920 |
Immunodeficiency 46 |
|
Conjunctivitis, Chronic oral candidiasis, Decreased circulating antibody level, Recurrent sinopul... |
OMIM:616740 |
Immunodeficiency 11 |
|
Recurrent respiratory infections, Decreased circulating antibody level, Pneumocystis jirovecii pn... |
OMIM:615206 |
Renpenning Syndrome |
|
Alopecia, Upslanted palpebral fissure, Epicanthus, Decreased testicular size, Thin eyebrow, Cache... |
ORPHA:3242 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse body hair, Sparse scalp hair, Eczema, Sparse eyelashes, Blepharitis, Sparse hair, Slow-gro... |
OMIM:618535 |
Pyoderma Gangrenosum |
|
Rheumatoid arthritis, Increased circulating antibody level, Myositis, Inflammation of the large i... |
ORPHA:48104 |
46,Xy Sex Reversal 3 |
|
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm... |
OMIM:612965 |
Thymic Tumor |
|
Cardiac arrest, Autoimmunity, Pericarditis, Cough, Dyspnea, Dysgammaglobulinemia |
ORPHA:100100 |
46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Aplasia of the uterus, Elevated circulating follicle stimulating hormon... |
OMIM:273250 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Recurrent aphthous stomatitis, Chronic oral candidiasis, Pneumocystis jirovecii pneumonia, Recurr... |
OMIM:301078 |
Aromatase Deficiency |
|
Genu valgum, Enlarged polycystic ovaries, Ambiguous genitalia, female, Eunuchoid habitus, Female ... |
ORPHA:91 |
Rift Valley Fever |
|
Retinal hemorrhage, Hepatitis, Skin rash, Hematuria, Severe viral infection, Uveitis, Increased c... |
ORPHA:319251 |
Chromosome 16Q22 Deletion Syndrome |
|
Short palpebral fissure, Epicanthus, Small for gestational age, Hip dysplasia, Blepharophimosis, ... |
OMIM:614541 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Horizontal ribs, Bell-shaped thorax, Short long bone, Thoracic dysplasia, Lateral clavicle hook, ... |
OMIM:615633 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Autoimmunity, Recurrent otitis media, Autoimmune thrombocytopenia, Autoimmune hemolyti... |
ORPHA:444463 |
Roifman Syndrome |
|
Retinal dystrophy, Noncompaction cardiomyopathy, Prominent eyelashes, Hepatosplenomegaly, Eosinop... |
ORPHA:353298 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Camptodactyly of finger, Flexion contracture, Elbow flexion contracture, Increased circulating in... |
OMIM:256040 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Upslanted palpebral fissure, Ambiguous genitalia, Hypospadias, Abnormal clavicle morphology, Abno... |
ORPHA:276422 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal infections |
OMIM:614868 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Crohn's disease, Tricuspid regurgitation, Decreased circulating total IgM, Bronchiectasis, Wolff-... |
OMIM:619705 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Autoinflammatory-Pancytopenia Syndrome |
|
Severe Epstein Barr virus infection, Arthropathy, Chilblains, Membranoproliferative glomeruloneph... |
OMIM:619858 |
Ifap Syndrome 2 |
|
Angular cheilitis, Keratoconjunctivitis sicca, Cataract, Keratitis, Sparse hair, Nail dystrophy, ... |
OMIM:619016 |
Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease, Generalized seborrheic dermatit... |
OMIM:609536 |
Q Fever |
|
Cryoglobulinemia, Lupus anticoagulant, Pericarditis, Pleural effusion, Abnormal left ventricular ... |
ORPHA:781 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Pulmonary embolism, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Hypertensi... |
ORPHA:567546 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Glomerulonephritis, Joint laxity, Chronic kidney disease |
ORPHA:2172 |
Omenn Syndrome |
|
Alopecia, Anemia, Aplasia/Hypoplasia of the eyebrow, Hepatomegaly, Eosinophilia, Leukocytosis, Sp... |
ORPHA:39041 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Foamy urine, Diffuse mesangial... |
ORPHA:656 |
Tn Polyagglutination Syndrome |
|
Autoimmunity |
OMIM:300622 |
Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level, Functional abnormality of the bladder |
OMIM:300076 |
Sweet Syndrome |
|
Oligoarthritis, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis ... |
ORPHA:3243 |
Adult-Onset Nemaline Myopathy |
|
Flexion contracture, Dilated cardiomyopathy, Mildly elevated creatine kinase, Paraproteinemia, Re... |
ORPHA:171442 |
Drug-Induced Lupus Erythematosus |
|
Malar rash, Decreased circulating complement C3 concentration, Hematuria, Lupus anticoagulant, Au... |
ORPHA:231111 |
Cornelia De Lange Syndrome 5 |
|
Small hand, Hypogonadism, Short stature, Decreased testicular size, Toe syndactyly, Synophrys, Cl... |
OMIM:300882 |
Inclusion Body Myositis |
|
Autoimmunity, Elevated circulating creatine kinase concentration |
ORPHA:611 |
Immunodeficiency 31A |
|
Recurrent mycobacterium avium complex infections, Herpes simplex encephalitis, BCGitis, Recurrent... |
OMIM:614892 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility |
OMIM:617996 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Omenn Syndrome |
|
Alopecia, Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Hepatome... |
OMIM:603554 |
Membranoproliferative Glomerulonephritis, X-Linked |
|
Membranoproliferative glomerulonephritis, Cardiac shunt |
OMIM:305800 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Short palpebral fissure, Sparse scalp hair, Decreased response to growth hormone stimulation test... |
OMIM:615866 |
Estrogen Resistance Syndrome |
|
Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le... |
ORPHA:785 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
Primary Sjögren Syndrome |
|
Chronic active hepatitis, Keratoconjunctivitis sicca, Cryoglobulinemia, Polyarticular arthropathy... |
ORPHA:289390 |
Olmsted Syndrome, X-Linked |
|
Blepharitis, Alopecia totalis, Posterior blepharitis |
OMIM:300918 |
Galloway-Mowat Syndrome 7 |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... |
OMIM:618348 |
46,Xy Sex Reversal 4 |
|
Distal symphalangism, Sex reversal, Hypoplastic labia majora, Agonadism, Recurrent otitis media, ... |
OMIM:154230 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Epicanthus, Hypoplastic labia majora, Limited elbow extension, Short palm, Hypoplasia of the uter... |
OMIM:618419 |
Netherton Syndrome |
|
Aminoaciduria, Decreased circulating antibody level, Asthma, Skin rash, Eczema, Emphysema, Ectopi... |
ORPHA:634 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Recurrent ear infections, Decreased circulating total IgM, Decreased lymphocyte proliferation in ... |
ORPHA:221139 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Male hypogonadism, Hypergonadotropic hypogonadism, Superior rib anomalies |
OMIM:307500 |
Specific Granule Deficiency 1 |
|
Recurrent bacterial infections, Impaired neutrophil bactericidal activity |
OMIM:245480 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Failure to thrive, Blepharitis, Pustule, Erythroderma |
OMIM:614328 |
Lymphoid Interstitial Pneumonia |
|
Bronchiectasis, Rheumatoid arthritis, Skin rash, Enlarged kidney, Keratoconjunctivitis sicca, Ray... |
ORPHA:79128 |
Riddle Syndrome |
|
Telangiectasia, Enuresis nocturna, Decreased circulating total IgM, Arthritis, Neonatal asphyxia,... |
ORPHA:420741 |
O'Sullivan-Mcleod Syndrome |
|
Tremor, Eosinophilia |
ORPHA:99965 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Nephrotic syndrome, Asthma, Colonic eosinophilia, Recurrent viral infections, Atopic dermatitis, ... |
OMIM:618999 |
46,Xy Sex Reversal 7 |
|
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... |
OMIM:233420 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Bronchiectasis, Decreased circulating antibody level, Skin rash, Inflammation o... |
OMIM:618108 |
Meckel Syndrome 12 |
|
Arrhinencephaly, Arthrogryposis multiplex congenita, Antecubital pterygium, Vaginal atresia, Intr... |
OMIM:616258 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Ambiguous genitalia, Rhizomelia, Narrow chest, Cataract, Abnormal clavicle morpholog... |
ORPHA:93267 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:611926 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the fibula, Finger syndactyly, Clinodactyly of the 5th finger, Congenital d... |
ORPHA:2141 |
Antithrombin Iii Deficiency |
|
Pulmonary embolism, Arterial occlusion |
OMIM:613118 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Recurrent sinopulmonary infections, Autoimmune thrombocytopeni... |
OMIM:619846 |
Juberg-Hayward Syndrome |
|
Abnormal eyebrow morphology, Abnormality of the elbow, Abnormal finger morphology, Toe syndactyly... |
ORPHA:2319 |
Actinic Prurigo |
|
Pyoderma, Cheilitis, Glomerulonephritis |
OMIM:174770 |
Atopic Keratoconjunctivitis |
|
Abnormal eyelid morphology, Keratoconjunctivitis sicca, Corneal neovascularization, Corneal opaci... |
ORPHA:163934 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Tapered finger, Small hand, Short foot, Epicanthus, Fair hair, Synophrys, Recurrent aspiration pn... |
ORPHA:280633 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Sepsis, Severe varicella zoster infection, Bronchiectasis, Impaired neutrophil che... |
OMIM:618986 |
Peripartum Cardiomyopathy |
|
Sinus tachycardia, Cardiogenic shock, Crackles, Palpitations, Exertional dyspnea, Asthma, Elevate... |
ORPHA:563 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease, Chronic tubulointerstitial nephritis, Glomerulonephritis, Restric... |
OMIM:614376 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... |
OMIM:301006 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Pulmonary embolism, Decreased circulating antibody level, Hypoproteinemia, Recurrent infections, ... |
OMIM:226300 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Monocytosis, Apl... |
ORPHA:486 |
Lymphatic Filariasis |
|
Lymphadenitis, Opportunistic infection, Nephrotic syndrome, Abnormality of the kidney, Opportunis... |
ORPHA:2035 |
Xq28 (MECP2) duplication |
|
Recurrent respiratory infections, Decreased circulating IgA level, Functional abnormality of the ... |
DECIPHER:45 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ambiguous genitalia, Hypoplasia of penis, Cataract, Disproportionate short-limb short stature, Cr... |
ORPHA:2772 |
Immunodeficiency 56 |
|
Panhypogammaglobulinemia, Bronchiectasis, Chronic hepatitis due to cryptosporidium infection, Pne... |
OMIM:615207 |
Aspergillosis |
|
Bronchiectasis, Unusual CNS infection, Pleural effusion, Meningitis, Pneumonia, Abnormality on pu... |
ORPHA:1163 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
Idiopathic Bronchiectasis |
|
Recurrent Haemophilus influenzae infections, Productive cough, Bronchiectasis, Abnormal respirato... |
ORPHA:60033 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... |
ORPHA:98849 |
Felty Syndrome |
|
Rhinitis, Abnormal joint morphology, Recurrent urinary tract infections, Arthritis, Synovitis, Re... |
ORPHA:47612 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Severe varicella zoster infection, Decreased T cell activation, Candida esophagitis, Perianal abs... |
OMIM:618213 |
Igg4-Related Submandibular Gland Disease |
|
Increased circulating IgG4 level, Prostatitis, Increased circulating antibody level, Abnormality ... |
ORPHA:449432 |
Partial Androgen Insensitivity Syndrome |
|
Urogenital sinus anomaly, Abnormality of secondary sexual hair, Ambiguous genitalia, Aplasia of t... |
ORPHA:90797 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Abnormality of the wrist, Increased circulating IgE level, Abnormality of the elbow |
ORPHA:89843 |
Immunodeficiency 49 |
|
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... |
OMIM:617237 |
Yellow Fever |
|
Anuria, Opportunistic infection, Increased circulating interleukin 6 concentration, Reduced left ... |
ORPHA:99829 |
Netherton Syndrome |
|
Allergic rhinitis, Asthma, Recurrent infections, Erythroderma, Increased circulating IgE level, D... |
OMIM:256500 |
Igg4-Related Thyroid Disease |
|
Increased circulating IgG4 level, Anti-thyroid peroxidase antibody positivity, Thyroiditis, Scler... |
ORPHA:64744 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology, Short stature |
ORPHA:2435 |
Three M Syndrome 1 |
|
Joint dislocation, Short 5th finger, Short thorax, Short stature, Short ribs, Small for gestation... |
OMIM:273750 |
Lichen Planus Pemphigoides |
|
Conjunctivitis, Blepharitis |
ORPHA:254478 |
Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Upslanted palpebral fissure, Coxa vara, Short stature, Hip dyspl... |
ORPHA:1988 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia |
OMIM:253600 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Generalized bone demineralization, Nephrotic syndrome, Mucopolysacchariduria, Decreased circulati... |
OMIM:215250 |
Caffey Disease |
|
Increased circulating antibody level, Respiratory insufficiency |
ORPHA:1310 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Increased circulating interleukin 6 concentration, Reduced left ventricular ejection... |
ORPHA:542323 |
Encephalitis Lethargica |
|
Urinary incontinence, Stiff neck, Increased circulating antibody level, Autoimmunity, Recurrent v... |
ORPHA:83600 |
Rasmussen Subacute Encephalitis |
|
Decreased circulating total IgA, Autoimmunity, Antinuclear antibody positivity, Anti-dsDNA antibo... |
ORPHA:1929 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Dyskeratosis Congenita, X-Linked |
|
Conjunctivitis, Alopecia, Premature graying of hair, Short stature, Decreased testicular size, Ph... |
OMIM:305000 |
Aapoaiv Amyloidosis |
|
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Abnormal renal... |
ORPHA:439232 |
Preeclampsia |
|
Acute kidney injury, Abnormality of the kidney, Elevated systolic blood pressure, Autoimmunity, H... |
ORPHA:275555 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythm... |
ORPHA:1345 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis |
OMIM:300455 |
Leukocyte Adhesion Deficiency |
|
Hemolytic-uremic syndrome, Perianal abscess, Bronchiectasis, Impaired neutrophil chemotaxis, Recu... |
ORPHA:2968 |
Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Decreased circulating total IgM, Decreased circulating antibody level... |
ORPHA:90363 |
Becker Nevus Syndrome |
|
Abnormality of the scrotum, Supernumerary ribs, Hypoplastic labia minora, Supernumerary nipple, P... |
ORPHA:64755 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Aplasia/Hypoplasia of the pancreas, Bicornuate uterus, Arthritis, Hypospadias, Absent vas deferen... |
ORPHA:93111 |
Alopecia Areata 1 |
|
Autoimmunity |
OMIM:104000 |
Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Azo... |
OMIM:104200 |
Isolated Agammaglobulinemia |
|
Skin rash, Inflammatory abnormality of the eye, Arthritis, Autoimmunity, Recurrent cutaneous absc... |
ORPHA:229717 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent mycobacterial infections, Sepsis, Autoimmunity, Recurrent bacterial infections, Meningi... |
ORPHA:169090 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Decreased circulating complement C3 concentration, Autoimmunity, Proteinuria, Mic... |
ORPHA:79087 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Decreased DLCO, Reduced FEV1/FVC ratio,... |
ORPHA:1303 |
Axial Spondylometaphyseal Dysplasia |
|
Thoracic hypoplasia, Flattened femoral head, Mild postnatal growth retardation, Disproportionate ... |
ORPHA:168549 |
Prune Belly Syndrome |
|
Decreased fertility, Urogenital sinus anomaly, Congenital posterior urethral valve, Decreased tes... |
ORPHA:2970 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Conjunctivitis, Flexion contracture, Increased circulating antibody level, Skin rash, Arthritis, ... |
OMIM:617591 |
Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
Crimean-Congo Hemorrhagic Fever |
|
Hypotension, Hemoperitoneum, Elevated circulating creatine kinase concentration, Abnormal left ve... |
ORPHA:99827 |
Ovarian Dysgenesis 3 |
|
Aplasia of the ovary, Female infertility, Delayed puberty, Elevated circulating luteinizing hormo... |
OMIM:614324 |
Hydatidiform Mole |
|
Menometrorrhagia, Enlarged uterus |
ORPHA:99927 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
B lymphocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Alopecia of... |
OMIM:602450 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
High anterior hairline, Short stature, Small for gestational age, Labial hypoplasia, Clinodactyly... |
ORPHA:231137 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Increased circulating gonadotropin level, Absent pubic hair, ... |
ORPHA:90793 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
Immunodeficiency 84 |
|
Persistent EBV viremia, Recurrent bacterial infections, Perianal abscess |
OMIM:619437 |
Thrombophilia Due To Thrombomodulin Defect |
|
Pulmonary embolism |
OMIM:614486 |
Primary Sclerosing Cholangitis |
|
Recurrent systemic pyogenic infections, Spider hemangioma, Renal insufficiency, Hepatitis, Thyroi... |
ORPHA:171 |
Silver-Russell Syndrome 3 |
|
Ambiguous genitalia, Decreased body weight, Small hand, Short stature, Small for gestational age,... |
OMIM:616489 |
Primary Intestinal Lymphangiectasia |
|
Opportunistic infection, Decreased circulating total IgM, Decreased circulating antibody level, P... |
ORPHA:90362 |
Overlap Myositis |
|
Pulmonary arterial hypertension, Abnormal circulating lipid concentration, Severe infection, Subl... |
ORPHA:206572 |
Thrombophilia, X-Linked, Due To Factor Viii Defect |
|
Pulmonary embolism |
OMIM:301071 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatitis, Camptodactyly, Autoimmunity, Chronic lung disease, Hashimoto thyroiditis, Decreased ci... |
OMIM:613385 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Nephrotic syndrome, Hip dislocation, Joint laxity, Glomerular sclerosis, Glomerulonephritis, Hypo... |
OMIM:619428 |
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant |
|
Pulmonary embolism |
OMIM:176860 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypogonadism, Short stature, Small for gestational age, Low posterior hairline, Congenital bilate... |
ORPHA:73272 |
Epilepsy-Telangiectasia Syndrome |
|
Conjunctival telangiectasia, Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Decreased fertility, Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male ... |
ORPHA:2138 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Sparse body hair, Downslanted palpebral fissures, Short stature, Clinodactyly of the 5th finger, ... |
ORPHA:3068 |
Renal Agenesis |
|
Absent vas deferens, Aplasia/hypoplasia of the uterus |
ORPHA:411709 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Cutaneous finger syndactyly, Ankyloblepharon, Hypoplasti... |
OMIM:119500 |
15Q24 Microdeletion Syndrome |
|
Epicanthus, Broad eyebrow, Postnatal growth retardation, High anterior hairline, Proximal placeme... |
ORPHA:94065 |
Metatropic Dysplasia |
|
Flexion contracture, Flared iliac wing, Long coccyx, Enlarged joints, Narrow greater sciatic notc... |
OMIM:156530 |
Diastrophic Dysplasia |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Joint dislocation, Hi... |
ORPHA:628 |
Incontinentia Pigmenti |
|
Atrophic, patchy alopecia, Retinal hemorrhage, Alopecia, Retinal vascular proliferation, Optic at... |
OMIM:308300 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Polydactyly, Abnormality of the scrotum, Short 5th finger, Bifid scrotum, Small for gestational a... |
ORPHA:397590 |
Whim Syndrome |
|
Lymphadenitis, Bronchiectasis, Decreased circulating antibody level, Severe periodontitis, Recurr... |
ORPHA:51636 |
Tick-Borne Encephalitis |
|
Myelitis, Stiff neck, Abnormality of serum cytokine level, Unusual CNS infection, Meningitis, Ele... |
ORPHA:297 |
3M Syndrome |
|
Horizontal ribs, Enlarged thorax, Scapular winging, Abnormal metaphysis morphology, Thick eyebrow... |
ORPHA:2616 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteomyelitis, Recurrent fractures, Craniosynostosis, Skin rash, Eczema, Cough, Recurrent infecti... |
ORPHA:2314 |
Japanese Encephalitis |
|
Stiff neck, Respiratory paralysis, Increased circulating antibody level, Irregular respiration, E... |
ORPHA:79139 |
Anti-Glomerular Basement Membrane Disease |
|
Respiratory insufficiency, Glomerulopathy, Renal insufficiency, Arthritis, Autoimmunity, Hematuri... |
ORPHA:375 |
Cocaine Intoxication |
|
Hypotension, Pneumothorax, Ischemic stroke, Ventricular arrhythmia, Supraventricular arrhythmia, ... |
ORPHA:90068 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the vagina, Aplasia of the fallopian tube, Aplasia of the uterus, Hirsutism, Primary a... |
OMIM:158330 |
Ebola Hemorrhagic Fever |
|
Increased circulating antibody level, Hepatitis, Acute pancreatitis, Dyspnea, Cough, Gastrointest... |
ORPHA:319218 |
Sea-Blue Histiocytosis |
|
Blepharitis |
ORPHA:158029 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Meningocele, Camptodactyly of finger, Short thorax, Finger syndactyly, Short stature, Rib segment... |
ORPHA:2311 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections, Osteomyelit... |
OMIM:615978 |
Congenital Analbuminemia |
|
Low pulse pressure, Increased circulating antibody level, Increased alpha-globulin, Hypoproteinem... |
ORPHA:86816 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Precocious puberty, Narrow pelvis bone, Truncal obesity, Limited elbow extension, Pseudoepiphyses... |
OMIM:210720 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Camptodactyly of finger, Epicanthus, Absence of labia majora, Pectus excavatum, Spina bifida occu... |
ORPHA:2990 |
Immunodeficiency 58 |
|
Bronchiectasis, Eczema, Recurrent cutaneous abscess formation, Colitis, Onychomycosis, Recurrent ... |
OMIM:618131 |
Immunodeficiency 17 |
|
Chronic decreased cirulating IgG2, Chronic oral candidiasis, Eczema, Recurrent gastroenteritis, R... |
OMIM:615607 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Lupus anticoagulant, Increased HDL cholesterol concentration, Abnormal left ventricular function,... |
ORPHA:70591 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Amenorrhea, Hypoplasia of the uterus |
OMIM:277000 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Penile hypospadias, Bifid scrotum, Penoscrotal hypospadias, Blind vagina, Cryptorchidism, Glandul... |
ORPHA:456328 |
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency |
|
Pulmonary embolism |
ORPHA:82 |
Ulnar-Mammary Syndrome |
|
Camptodactyly of finger, Abnormality of the wrist, Breast aplasia, Postaxial hand polydactyly, Ab... |
ORPHA:3138 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Decreased circulating IgG level |
OMIM:152800 |
Inflammatory Pseudotumor Of The Liver |
|
Increased hepatitis B virus antibody level, Autoimmune antibody positivity, Elevated circulating ... |
ORPHA:90003 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Ovotest... |
OMIM:278850 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Respiratory distress, Tachypnea, Autoimmune antibody positivity, Crackles, Restrictive... |
ORPHA:264675 |
Thrombophilia Due To Thrombin Defect |
|
Pulmonary embolism |
OMIM:188050 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Reduced subcutaneous adipose tissue, Overlapping toe, Sparse eyelashes, Sparse hair, Postnatal gr... |
OMIM:613026 |
Vici Syndrome |
|
Decreased circulating IgG level, Renal tubular acidosis, Decreased circulating IgG2 level, Recurr... |
ORPHA:1493 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Igg4-Related Pachymeningitis |
|
Lymphadenitis, Increased circulating IgG4 level, Pancreatitis, Nephritis, Sinusitis, Parotitis, D... |
ORPHA:449427 |
Trisomy 13 |
|
Hernia, Aplasia/Hypoplasia of the iris, Narrow chest, Intrauterine growth retardation, Abnormal p... |
ORPHA:3378 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Anemia, Eosinophilia |
ORPHA:2070 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Abnormal spermatogenesis, Aplasia/Hypoplasia of the eyebrow, Decreased response to grow... |
ORPHA:3464 |
Wiskott-Aldrich Syndrome |
|
Conjunctivitis, Hypoplasia of the thymus, Arthritis, Abnormality of the menstrual cycle, Eczema, ... |
ORPHA:906 |
Antisynthetase Syndrome |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Joint dislocation, Recurrent respirat... |
ORPHA:81 |
Long Qt Syndrome 13 |
|
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... |
OMIM:613485 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Lymphadenitis, Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Ost... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Lymphadenitis, Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Ost... |
OMIM:233710 |
Bloom Syndrome |
|
Pneumonia, Decreased circulating IgG level, Nephroblastoma, Recurrent tonsillitis, Severe varicel... |
ORPHA:125 |
Waldenström Macroglobulinemia |
|
Respiratory insufficiency, Retinal hemorrhage, Cryoglobulinemia, Congestive heart failure, Pleura... |
ORPHA:33226 |
Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Malar rash, Arthritis, Abnormality of the kidney, Abnormal renal physiology, Pericarditis, System... |
OMIM:609939 |
Myhre Syndrome |
|
Precocious puberty, Large iliac wing, Abnormal rib morphology, Abnormal metaphysis morphology, Sh... |
ORPHA:2588 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Finger syndactyly, Missing ribs, Hand polydactyly, Congenital hip dislocation, Iris col... |
ORPHA:1647 |
Wiedemann-Steiner Syndrome |
|
Short phalanx of finger, 2-3 toe syndactyly, Tapered finger, Short 5th finger, Epicanthus, Synoph... |
OMIM:605130 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Bronchiectasis, Eczema, Generalized osteoporosis, Abnormal circulating interferon-gamma concentra... |
ORPHA:391487 |
Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Coxa valga, Finger syndactyly, Patellar dislocation, Tibial torsion, Fused cervical v... |
ORPHA:3320 |
Essential Fructosuria |
|
Hyperglycemia, Abnormal erythrocyte enzyme level |
ORPHA:2056 |
Autoimmune Polyendocrinopathy Type 4 |
|
Tubulointerstitial nephritis, Atrophic gastritis, Decreased circulating antibody level, Iridocycl... |
ORPHA:227990 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Short stature, Congenital diaphragmatic hernia, Chordee, Hypospadias, Iris coloboma, Peters anoma... |
OMIM:309801 |
Meier-Gorlin Syndrome 1 |
|
Flexion contracture, Coxa valga, Osteochondritis dissecans, Hypoplastic labia majora, Camptodacty... |
OMIM:224690 |
Hereditary Xanthinuria |
|
Uric acid nephrolithiasis, Crystalluria, Arthropathy, Rheumatoid arthritis, Acute kidney injury, ... |
ORPHA:3467 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Lymphadenitis, Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Ost... |
OMIM:233690 |
Candidiasis, Familial, 8 |
|
Seborrheic dermatitis, Chronic oral candidiasis, Cheilitis, Blepharitis |
OMIM:615527 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Short stature, Fused cervical vertebrae, Pectus excavatum, Ptosis, Hypospadias, Abnormal clavicle... |
ORPHA:2522 |
Scarf Syndrome |
|
Short sternum, Downslanted palpebral fissures, Enamel hypoplasia, Bifid scrotum, Craniosynostosis... |
ORPHA:3134 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Aortic regurgitation, Re... |
OMIM:603585 |
Febrile Infection-Related Epilepsy Syndrome |
|
Autoimmunity, Sinusitis, Cough |
ORPHA:163703 |
Mucous Membrane Pemphigoid |
|
Autoimmunity |
ORPHA:46486 |
Rheumatoid Arthritis |
|
Rheumatoid arthritis, Rheumatoid factor positive, Anti-citrullinated protein antibody positivity,... |
OMIM:180300 |
Pediatric Systemic Lupus Erythematosus |
|
Lupus anticoagulant, Myositis, Pleural effusion, Abnormality of the urinary system, Antinuclear a... |
ORPHA:93552 |
Immunodeficiency 47 |
|
Chronic decreased circulating total IgG, Decreased circulating total IgM, Decreased circulating a... |
OMIM:300972 |
Atrial Septal Defect, Ostium Secundum Type |
|
Systolic heart murmur, Supraventricular arrhythmia, Breathing dysregulation, Abnormal left ventri... |
ORPHA:99103 |
Jeune Syndrome |
|
Abnormal sternum morphology, Short thorax, Cone-shaped epiphysis, Short stature, Toe syndactyly, ... |
ORPHA:474 |
Autoimmune Hypoparathyroidism |
|
Conjunctivitis, Hypocalcemic tetany, Hyperphosphatemia, Ventricular arrhythmia, Increased bone mi... |
ORPHA:36913 |
Immunodeficiency 87 And Autoimmunity |
|
Pulmonary arterial hypertension, Persistent EBV viremia, Hypertriglyceridemia, Sepsis, Atrophic g... |
OMIM:619573 |
Autoimmune Polyendocrinopathy Type 3 |
|
Tubulointerstitial nephritis, Atrophic gastritis, Decreased circulating antibody level, Iridocycl... |
ORPHA:227982 |
Linear Iga Dermatosis |
|
Epistaxis, Inflammation of the large intestine, Renal neoplasm, Autoimmunity |
ORPHA:46488 |
Schimke Immunoosseous Dysplasia |
|
Pulmonary arterial hypertension, Cerebral ischemia, Decreased circulating antibody level, Transie... |
OMIM:242900 |
Alg12-Cdg |
|
Abnormal circulating IgG level, Recurrent ear infections, Sepsis, Complete or near-complete absen... |
ORPHA:79324 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Short stature, Arrhinencephaly, Vaginal atresia, Intrauterine growth retardation, Hypoplasia of t... |
OMIM:617914 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Hip dislocation, Metatarsal synostosis, Unilateral cryptorchidism, 2-3 toe cutane... |
OMIM:206920 |
Immunodeficiency 82 With Systemic Inflammation |
|
Bronchiectasis, Gastritis, Colitis, Recurrent skin infections, Pneumonia, Hypernatremia, Osteomye... |
OMIM:619381 |
Leishmaniasis |
|
Increased circulating antibody level, Rhinitis, Hypoalbuminemia |
ORPHA:507 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Eosinophilia, Coarse hair, Cor pulmonale, Sparse hair, Nail dystrophy |
OMIM:158310 |
Goodpasture Syndrome |
|
Glomerular crescent formation, Pulmonary hemorrhage, Anti-myeloperoxidase antibody positivity, Re... |
OMIM:233450 |
3Mc Syndrome |
|
Downslanted palpebral fissures, Craniosynostosis, Blepharophimosis, Bilateral cryptorchidism, Cau... |
ORPHA:293843 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Enterocolitis, Recurrent respiratory infections, Decreased circulating antibody level, Interface ... |
OMIM:243150 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Rheumatoid factor positive, Inflammatory abnormality of the skin, Elevated circulating C-reactive... |
ORPHA:79099 |
46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Increased circulating gonadotropin level, Primary amenorrhea... |
ORPHA:251510 |
Hereditary Folate Malabsorption |
|
Thrombocytopenia, Megaloblastic anemia, Pancytopenia, Eosinophilia |
ORPHA:90045 |
Scedosporiosis |
|
Septic arthritis, Unusual CNS infection, Pericarditis, Bronchial breath sound, Pneumonia, Sepsis,... |
ORPHA:449280 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Juvenile rheumatoid arthritis, Skin rash, Autoimmunity, Pericarditis, Pleural effusion, Joint swe... |
ORPHA:85414 |
Cat-Eye Syndrome |
|
Downslanted palpebral fissures, Short stature, Hip dysplasia, Iris coloboma, Abnormal rib morphol... |
ORPHA:195 |
Scarf Syndrome |
|
Short sternum, Downslanted palpebral fissures, Enamel hypoplasia, Low anterior hairline, Bifid sc... |
OMIM:312830 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgA level, Hypocalcem... |
OMIM:612301 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Flexion contracture, Elevated circulating creatine kinase concentration, Recurrent pneumonia, Pro... |
OMIM:613327 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Horizontal ribs, Short stature, Short ribs, Narrow chest, Postaxial foot polydactyly, Lateral cla... |
OMIM:617405 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Humeroradial synostosis, Epicanthus, Aplasia/hypoplasia of the femur, Elbow flexion contracture, ... |
OMIM:276820 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Short stature, Craniosynostosis, Split hand, Brachydactyly, Abnormal rib morph... |
ORPHA:2145 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Exertional dyspnea, Skin rash, Autoimmunity, Autoimmune hemolytic anem... |
ORPHA:90036 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insuf... |
OMIM:241080 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Neck pterygia, Gonadoblastoma, Enlarged thorax, Short 4th metacarpal, Epicanthus, Pectus excavatu... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Neck pterygia, Gonadoblastoma, Enlarged thorax, Short 4th metacarpal, Epicanthus, Pectus excavatu... |
ORPHA:99228 |
Monosomy X |
|
Neck pterygia, Gonadoblastoma, Enlarged thorax, Short 4th metacarpal, Epicanthus, Pectus excavatu... |
ORPHA:99226 |
Turner Syndrome |
|
Neck pterygia, Gonadoblastoma, Enlarged thorax, Short 4th metacarpal, Epicanthus, Pectus excavatu... |
ORPHA:881 |
Dyskeratosis Congenita, Digenic |
|
Decreased circulating IgA level, Recurrent infections, Decreased circulating total IgM, Decreased... |
OMIM:620040 |
Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Recurrent fractures, Hypoplasia of penis, Abnormality of the ureter, Inc... |
ORPHA:3409 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level, Aortic regurgitation, Aortic valve stenosis |
OMIM:114065 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Neck pterygia, Flexion contracture, Multiple joint contractures, Epicanthus, Absence of labia maj... |
OMIM:265000 |
Seckel Syndrome 1 |
|
11 pairs of ribs, Downslanted palpebral fissures, Enamel hypoplasia, Blepharophimosis, Ivory epip... |
OMIM:210600 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Recurrent fractures, Enlarged kidney, Hypertension, Membranoproliferative glomerulonephritis, Inc... |
ORPHA:251004 |
Diabetes And Deafness, Maternally Inherited |
|
Retinal degeneration, Type II diabetes mellitus, Hyperglycemia, Pigmentary retinopathy, Cardiomyo... |
OMIM:520000 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Short palpebral fissure, Downslanted palpebral fissures, Arachnodactyly, Hypogonadism, Joint cont... |
OMIM:612513 |
Specific Granule Deficiency 2 |
|
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Osteopenia, Sepsis |
OMIM:617475 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia, Optic disc pallor, Retinal thinning |
OMIM:618970 |
Al Amyloidosis |
|
Reduced left ventricular ejection fraction, Abnormal EKG, Increased circulating antibody level, R... |
ORPHA:85443 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Abnormal sternum morphology, Short ribs, Epicanthus, Supernumerary nipple, Micropenis, Cryptorchi... |
ORPHA:2519 |
Renal And Mullerian Duct Hypoplasia |
|
Aplasia of the uterus, Severe postnatal growth retardation, Hydrocele testis, Anteriorly displace... |
OMIM:266810 |
Familial Dilated Cardiomyopathy |
|
Elevated pulmonary artery pressure, Abnormal circulating creatine kinase concentration, Reduced l... |
ORPHA:217607 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Asthma, Systemic lupus erythematosus, Bone marrow hypocellularity, Eczema |
OMIM:616871 |
Factor V Excess With Spontaneous Thrombosis |
|
Pulmonary embolism |
OMIM:134400 |
Leukocyte Adhesion Deficiency, Type I |
|
Osteomyelitis, Periodontitis, Recurrent gram-negative bacterial infections, Chronic mucocutaneous... |
OMIM:116920 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Pectus excavatum, ... |
OMIM:607778 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Ambiguous genitalia, Finger syndactyly, Bifid scrotum, Toe syndactyly, Ankyloblepharon, Hypoplast... |
ORPHA:1300 |
Hypotrichosis Simplex Of The Scalp |
|
Increased circulating IgE level, Atopic dermatitis, Allergic rhinitis |
ORPHA:90368 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Aminoaciduria, Scleritis, Mild proteinuria, Renal interstitial edema, Renal neutrophilic tubuliti... |
ORPHA:91500 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Epiphysea... |
OMIM:614732 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Gonadoblastoma, Abnormality of the uterus, Hypospadias, Cryptorchidism, Streak ovary, Obesity, An... |
OMIM:194072 |
Transient Neonatal Diabetes Mellitus |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, Maturity-onset di... |
ORPHA:99886 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Brain abscess, Intraalveolar phospholipid accumulation, Recurrent respiratory infections, Anti-gr... |
OMIM:610910 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metatarsal, Genu valgum, Upper limb undergrowth, Abnormal joint morphology, Abnormal carpal... |
ORPHA:93351 |
Polymyositis |
|
Respiratory insufficiency, Abnormal atrioventricular conduction, Exertional dyspnea, Arthritis, A... |
ORPHA:732 |
Kallmann Syndrome |
|
Decreased fertility, Decreased testicular size, Anterior hypopituitarism, Hypoplasia of penis, Er... |
ORPHA:478 |
Gaucher Disease Type 1 |
|
Pulmonary arterial hypertension, Increased circulating antibody level, Increased bone mineral den... |
ORPHA:77259 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Exertional dyspnea, Transient ischemic at... |
ORPHA:99104 |
Ciliary Dyskinesia, Primary, 37 |
|
Chronic rhinitis, Female infertility, Bronchiectasis, Goiter |
OMIM:617577 |
Acro-Renal-Mandibular Syndrome |
|
Downslanted palpebral fissures, Pectus carinatum, Finger syndactyly, Bicornuate uterus, Hypoplasi... |
ORPHA:958 |
Microphthalmia, Syndromic 9 |
|
Short stature, Bicornuate uterus, Blepharophimosis, Inguinal hernia, Congenital diaphragmatic her... |
OMIM:601186 |
Vici Syndrome |
|
Cardiomyopathy, Penile hypospadias, Decreased T cell activation, Decreased circulating IgG2 level... |
OMIM:242840 |
Granulomatous Disease, Chronic, X-Linked |
|
Lymphadenitis, Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Ost... |
OMIM:306400 |
Leukonychia Totalis |
|
Abnormal eyelash morphology, Adenoma sebaceum, Blepharitis |
ORPHA:2387 |
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Deformed h... |
ORPHA:2975 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Short stature, Missing ribs, Limbal dermoid, Abnormal pelvic girdle bone... |
ORPHA:1834 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hypotension, Bronchiectasis, Decreased circulating antibody level, Thyroiditis, Recurrent bronchi... |
ORPHA:293978 |
Premature Ovarian Failure 20 |
|
Female infertility, Elevated circulating luteinizing hormone level, Elevated circulating follicle... |
OMIM:619938 |
Igg4-Related Ophthalmic Disease |
|
Antinuclear antibody positivity, Increased circulating IgG4 level, Prostatitis, Abnormality of th... |
ORPHA:449563 |
Peters-Plus Syndrome |
|
Decreased body weight, Hypoplastic labia majora, Pectus excavatum, Iris coloboma, Peters anomaly,... |
OMIM:261540 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Diaphyseal thickening, Short stature |
ORPHA:1513 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Hypoventilation, Recurrent fractures, Decreased circulating IgA level, Decreased circulating anti... |
OMIM:606056 |
8P11.2 Deletion Syndrome |
|
Upslanted palpebral fissure, Hypogonadism, Short stature, Epicanthus, Blepharophimosis, Supernume... |
ORPHA:251066 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Horizontal ribs, Ambiguous genitalia, Thoracic hypoplasia, Hypoplastic ilia, Short ribs, Hypoplas... |
OMIM:617895 |
Bloom Syndrome |
|
Malar rash, Decreased circulating total IgM, Bronchiectasis, Facial telangiectasia in butterfly m... |
OMIM:210900 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Vertebral fusion, Short ribs, Block vertebrae, Absent external genitalia, Missi... |
OMIM:271520 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Panhypogammaglobulinemia, Abnormality of B cell physiology, Recurrent otitis media, Cutaneous ane... |
OMIM:600802 |
Trisomy 18 |
|
Camptodactyly of finger, Epicanthus, Cachexia, Narrow pelvis bone, Iris coloboma, Postaxial hand ... |
ORPHA:3380 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections, Eczema |
OMIM:300299 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Pulmonary arterial hypertension, Apical hypertrophic cardiomyopathy, Left ventricular outflow tra... |
OMIM:613255 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Recurrent bacterial infections, Recurrent infections |
OMIM:612783 |
Microscopic Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Skin rash, Arthritis, Autoimmunity, Congestive heart failure... |
ORPHA:727 |
Transcobalamin Ii Deficiency |
|
Methylmalonic aciduria, Decreased circulating IgA level, Decreased circulating total IgM, Decreas... |
OMIM:275350 |
Ataxia-Telangiectasia |
|
Bronchiectasis, Decreased circulating IgG2 level, Recurrent bronchitis, Elevated circulating alph... |
OMIM:208900 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Ambiguous genitalia, female, Hypoplasia of the vagina, Decreased testicular size, Short stature, ... |
OMIM:202010 |
Acquired Ichthyosis |
|
Renal insufficiency, Autoimmunity, Recurrent skin infections |
ORPHA:454 |
Spondyloenchondrodysplasia |
|
Juvenile rheumatoid arthritis, Hepatitis, Arthritis, Skin rash, Raynaud phenomenon, Autoimmunity,... |
ORPHA:1855 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Epistaxis, Recurrent bacterial infections, Recurrent skin infections, Osteopetrosis, Sepsis |
OMIM:612840 |
Hepatoerythropoietic Porphyria |
|
Recurrent bacterial skin infections, Keratoconjunctivitis, Scleritis, Corneal ulceration, Seborrh... |
ORPHA:95159 |
Scleroderma |
|
Osteolytic defects of the phalanges of the hand, Flexion contracture, Fasciitis, Elevated circula... |
ORPHA:801 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Fractured radius, Thoracic hypoplasia, Short ribs, Small for gestational age... |
OMIM:616897 |
Spastic Paraplegia Type 2 |
|
Pulmonary embolism, Recurrent respiratory infections, Limitation of joint mobility, Spastic/hyper... |
ORPHA:99015 |
Secondary Non-Traumatic Avascular Necrosis |
|
Systemic lupus erythematosus, Autoimmunity, Limitation of joint mobility, Rheumatoid arthritis |
ORPHA:399180 |
Silver-Russell Syndrome |
|
Delayed cranial suture closure, Precocious puberty, Abnormality of the calcaneus, Short stature, ... |
ORPHA:813 |
Alagille Syndrome |
|
Abnormal pupil morphology, Downslanted palpebral fissures, Clinodactyly of the 5th finger, Hypopl... |
ORPHA:52 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Autoimmunity, Dyspnea |
ORPHA:228312 |
Cystic Fibrosis |
|
Bronchiectasis, Failure to thrive, Sinusitis, Absent vas deferens, Decreased body mass index |
ORPHA:586 |
Bullous Pemphigoid |
|
Psoriasiform dermatitis, Autoimmunity, Recurrent infections, Eczema |
ORPHA:703 |
New-Onset Refractory Status Epilepticus |
|
Infectious encephalitis, Autoimmunity, Abnormal circulating interleukin concentration |
ORPHA:363558 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Lymphocytosis, Myocarditis, Eosinophilia |
ORPHA:139402 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Absent thumb, Coxa valga, Patellar dislocation, Hip dislocation, Cervica... |
OMIM:274000 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Narrow chest, Halberd-shaped pelvis, Clinodactyly of the 5th finger, Coa... |
ORPHA:2635 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Endocarditis, Abnormal pericardium morphology, Hypertrophic cardiomyopathy, Eosinophilia, Myocard... |
ORPHA:183 |
Myotonic Dystrophy 2 |
|
Right bundle branch block, Decreased circulating total IgM, Elevated circulating creatine kinase ... |
OMIM:602668 |
Heart Defects-Limb Shortening Syndrome |
|
Mesomelic/rhizomelic limb shortening, Narrow chest, Disproportionate short stature, Abnormal rib ... |
ORPHA:1354 |
Vacterl/Vater Association |
|
Omphalocele, Ambiguous genitalia, Preaxial hand polydactyly, Finger syndactyly, Bifid scrotum, An... |
ORPHA:887 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Aplasia of the uterus, Ptosis, Hypoparathyroidism, Primary amenorrhea, Septate vagina, Aplasia of... |
OMIM:146255 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Delayed cranial suture closure, Decre... |
OMIM:620005 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Flexion contracture, Humeroradial synostosis, Elbow flexion contracture, Nar... |
ORPHA:95699 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Failure to thrive, Female infertility, Short stature |
OMIM:619518 |
Septopreoptic Holoprosencephaly |
|
Ethmoidal encephalocele, Precocious puberty, Anterior hypopituitarism, Central diabetes insipidus... |
ORPHA:280195 |
Complete Atrioventricular Septal Defect |
|
Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Third heart... |
ORPHA:1329 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Ambiguous genitalia, Ambiguous genitalia, female, Long penis, Frontal balding, Hirsutism, Decreas... |
ORPHA:90794 |
Glycogen Storage Disease Ib |
|
Hyperuricemia, Enlarged kidney, Hypertension, Gout, Inflammation of the large intestine, Recurren... |
OMIM:232220 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased fertility, Urogenital sinus anomaly, Adrenocorticotropic hormone excess, Midshaft hypos... |
ORPHA:168558 |
Intrahepatic Cholestasis Of Pregnancy |
|
Skin rash, Hyperbilirubinemia, Autoimmunity, Cholecystitis, Increased serum bile acid concentrati... |
ORPHA:69665 |
Limited Cutaneous Systemic Sclerosis |
|
Pulmonary arterial hypertension, Foot joint contracture, Mucosal telangiectasiae, Joint contractu... |
ORPHA:220402 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cellulitis, Skin rash, Failure to thrive, Colonic eosinophilia, Inflammation of the large intesti... |
OMIM:617718 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased fertility, Urogenital sinus anomaly, Adrenocorticotropic hormone excess, Midshaft hypos... |
ORPHA:289548 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Decreased circulating antibody level, Erythema nodosum, Skin rash, Arthritis, Raynaud phenomenon,... |
OMIM:615688 |
Cardiogenic Shock |
|
Hypotension, Impaired myocardial contractility, Abnormal EKG, Elevated jugular venous pressure, C... |
ORPHA:97292 |
Tropical Endomyocardial Fibrosis |
|
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Cardio... |
ORPHA:75565 |
Adult-Onset Still Disease |
|
Abnormal circulating lipid concentration, Hepatitis, Skin rash, Arthritis, Recurrent pharyngitis,... |
ORPHA:829 |
Fixed Subaortic Stenosis |
|
Left ventricular outflow tract obstruction, Systolic heart murmur, Bacterial endocarditis, Diasto... |
ORPHA:3092 |
Diabetes Mellitus, Ketosis-Prone |
|
Autoimmunity |
OMIM:612227 |
Ellis-Van Creveld Syndrome |
|
Horizontal ribs, Hypoplastic iliac wing, Genu valgum, Capitate-hamate fusion, Short ribs, Short l... |
OMIM:225500 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Type I diabetes mellitus, Hypoglycemia, Macrocytic anemia, Eosinophilia |
ORPHA:199299 |
Cockayne Syndrome Type 2 |
|
Conjunctivitis, Enamel hypoplasia, Flexion contracture, Scarring, Developmental cataract, Uveitis... |
ORPHA:90322 |
Warburg Micro Syndrome 2 |
|
Flexion contracture, Clinodactyly of the 4th toe, Clinodactyly of the 5th toe, Hypoplastic labia ... |
OMIM:614225 |
Trisomy 1Q |
|
Camptodactyly of finger, Downslanted palpebral fissures, Ambiguous genitalia, Preaxial hand polyd... |
ORPHA:261344 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Interstitial pneumonitis, Neutropenia in presence of anti-neutropil antibodies, Autoimmunity, Aut... |
ORPHA:231154 |
Juvenile Xanthogranuloma |
|
Iritis, Asymmetry of iris pigmentation, Uveitis, Blepharitis |
ORPHA:158000 |
Acrorenal-Mandibular Syndrome |
|
Epicanthus, Toe syndactyly, Elbow flexion contracture, Hip dislocation, Uterus didelphys, Rudimen... |
OMIM:200980 |
Dyggve-Melchior-Clausen Disease |
|
Hypoplastic acetabulae, Limited elbow extension, Abnormality of the ankle, Disproportionate short... |
ORPHA:239 |
Pulmonary Arteriovenous Malformation |
|
Pulmonary arterial hypertension, Pulmonary hemorrhage, Brain abscess, Bacterial endocarditis, Isc... |
ORPHA:2038 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Preaxial hand polydactyly, Decreased response to growth hormone stimulation test, Contractures of... |
ORPHA:96179 |
Granulomatosis With Polyangiitis |
|
Respiratory insufficiency, Glomerulopathy, Prostatitis, Inflammatory abnormality of the eye, Angi... |
ORPHA:900 |
Hermansky-Pudlak Syndrome 2 |
|
Chronic oral candidiasis, Reduced natural killer cell activity, Periodontitis, Impaired ADP-induc... |
OMIM:608233 |
Isolated Osteopoikilosis |
|
Tarsal sclerosis, Abnormal bone ossification, Discoid lupus rash, Increased bone mineral density,... |
ORPHA:166119 |
Myotubular Myopathy With Abnormal Genital Development |
|
Penile hypospadias, Bifid scrotum, Bilateral cryptorchidism, Ambiguous genitalia, male, Unilatera... |
OMIM:300219 |
Takayasu Arteritis |
|
Pulmonary arterial hypertension, Cerebral ischemia, Arthritis, Inflammatory abnormality of the ey... |
ORPHA:3287 |
Peters Plus Syndrome |
|
Toe syndactyly, Anterior hypopituitarism, Spina bifida occulta, Iris coloboma, Peters anomaly, Po... |
ORPHA:709 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Epicanthus, Toe syndactyly, Aplasia/hypoplasia of the femur, Flared ilia... |
OMIM:609945 |
Mixed Connective Tissue Disease |
|
Pulmonary arterial hypertension, Skin rash, Arthritis, Keratoconjunctivitis sicca, Autoimmunity, ... |
ORPHA:809 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Premature graying of hair, Spina bifida, Synophrys, Supernumerary ribs, White e... |
OMIM:193500 |
Floating-Harbor Syndrome |
|
Ivory epiphyses of the distal phalanges of the hand, Congenital posterior urethral valve, Short m... |
OMIM:136140 |
Incontinentia Pigmenti |
|
Retinal hemorrhage, Alopecia, Dystrophic toenail, Retinal vascular proliferation, Abnormal chorio... |
ORPHA:464 |
Grant Syndrome |
|
Joint dislocation, Short stature, Narrow chest, Abnormality of the glenoid fossa, Abnormal pelvic... |
ORPHA:2097 |
Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Epicanthus, Hip dislocation, Metatarsus adductus, Short hallux, Iris coloboma... |
OMIM:194190 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Hyperglycemia |
OMIM:618858 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Short stature, Abnormality of the humerus, Synostosis of carpal bones, A... |
ORPHA:1836 |
Tetraamelia-Multiple Malformations Syndrome |
|
Missing ribs, Microcornea, Vaginal atresia, Aplasia/Hypoplasia involving the pelvis, Iris colobom... |
ORPHA:3301 |
Progeroid Short Stature With Pigmented Nevi |
|
Allergic conjunctivitis, Short stature, Allergic rhinitis, Small for gestational age, Premature o... |
OMIM:176690 |
Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Autoimmunity, Recurrent infections |
ORPHA:704 |
Congenital Erythropoietic Porphyria |
|
Recurrent bacterial skin infections, Keratoconjunctivitis, Scleritis, Corneal ulceration, Seborrh... |
ORPHA:79277 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Proximal tubulopathy, Flexion contracture, Decreased circulating IgG level, Nephrotic syndrome, P... |
OMIM:212065 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Ambiguous genitalia, Vesicovaginal fistula, Humeroradial synostosis, Camptodactyly, Primary ameno... |
OMIM:201750 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenitis, Vesicoureteral reflux, Eczema, Congestive heart failure, Dilated cardiomyopathy, E... |
OMIM:615895 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Asthma, Hypospadias, Decreased circulating IgA level |
ORPHA:457485 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia |
OMIM:617425 |
Mogs-Cdg |
|
Hypoventilation, Decreased circulating total IgM, Decreased circulating antibody level, Respirato... |
ORPHA:79330 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Membranoproliferative glomerulonephritis, Facial telangiectasia in butterfly midface distribution... |
OMIM:137940 |
Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Flared iliac wing, Elbow dislocation, Short hallux, Abnormal rib morphol... |
ORPHA:90652 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Anti-thyroid peroxidase antibody positivity, Anti-glutamic acid decarboxylase antibody positivity... |
ORPHA:228426 |
Nail-Patella Syndrome |
|
Patellar hypoplasia, Patellar dislocation, Patellar aplasia, Nephrotic syndrome, Hematuria, Antec... |
OMIM:161200 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Pulmonary arterial hypertension, Hyperalaninemia, Lacticaciduria, Hyperprolinemia, Neonatal respi... |
OMIM:619003 |
Diffuse Cutaneous Systemic Sclerosis |
|
Pulmonary arterial hypertension, Flexion contracture, Arthritis, Autoimmunity, Congestive heart f... |
ORPHA:220393 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... |
OMIM:262190 |
Kbg Syndrome |
|
Synophrys, Cervical ribs, Radial deviation of finger, Ulnar deviation of the 2nd finger, Thick ey... |
OMIM:148050 |
Coffin-Lowry Syndrome |
|
Downslanted palpebral fissures, Delayed closure of the anterior fontanelle, Coxa valga, Decreased... |
OMIM:303600 |
Extracranial Carotid Artery Aneurysm |
|
Extrapulmonary tuberculosis, Opportunistic infection, Severe infection, Cerebral ischemia, Vascul... |
ORPHA:494424 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pulmonary arterial hypertension, Hyperalaninemia, Hyperglycinemia, Hip dislocation, Sepsis |
OMIM:619059 |
Schwartz-Jampel Syndrome |
|
Metatarsus valgus, Wrist flexion contracture, Blepharospasm, Decreased body weight, Coxa valga, C... |
ORPHA:800 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmunity, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Systemic lupus erythemato... |
ORPHA:760 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Anterior polar cataract, Flat glenoid fossa, Short palm, Genu valgum, Metaphyseal irregularity, S... |
OMIM:250420 |
Phocomelia, Schinzel Type |
|
Meningocele, Foot oligodactyly, Humeroradial synostosis, Hypoplasia of the radius, Radial bowing,... |
ORPHA:2879 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology |
ORPHA:1164 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hyperlipidemia, Hypercholesterolemia, Nephrolithiasis, Increased susceptibility to fractures, Hyp... |
ORPHA:79259 |
Postaxial Acrofacial Dysostosis |
|
Downslanted palpebral fissures, Hypoplasia of the radius, Radioulnar synostosis, Supernumerary ni... |
OMIM:263750 |
Chédiak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Hypertriglyceridemia, Periodontitis, Skin rash, Abnormal pla... |
ORPHA:167 |
Stuve-Wiedemann Syndrome 2 |
|
Pulmonary arterial hypertension, Camptodactyly, Congestive heart failure, Eczema, Respiratory dis... |
OMIM:619751 |
Type 1 Diabetes Mellitus |
|
Polyuria, Autoimmunity, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Hypoplastic labia majora, Breast aplasia, Elbow dislocation, Abnormal ri... |
ORPHA:2554 |
Achondrogenesis Type 1B |
|
Short thorax, Femoral hernia, Narrow chest, Disproportionate short stature, Severe short stature,... |
ORPHA:93298 |
Scleromyxedema |
|
Exertional dyspnea, Transient ischemic attack, Abnormality of the kidney, Raynaud phenomenon, Ele... |
ORPHA:167635 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Delayed cranial suture closure, Humeroradial synostosis, Elbow flexion contracture, Spina bifida ... |
OMIM:151050 |
Livedoid Vasculopathy |
|
Abnormal circulating lipid concentration, Ischemic stroke, Abnormality of complement system, Hype... |
ORPHA:542643 |
Unclassified Myelodysplastic Syndrome |
|
Autoimmunity, Bone marrow hypocellularity |
ORPHA:98827 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Camptodactyly of finger, Downslanted palpebral fissures, Arachnodactyly, Tapered finger, Finger s... |
ORPHA:2215 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hypereosinophilia, T lymphocytopenia, Mitral valve prolapse, Decreased proportion of CD8-positive... |
ORPHA:508533 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Penile hypospadias, Short 5th finger, Triangular shaped distal phalanges of the hand, Recurrent a... |
ORPHA:73230 |
Aymé-Gripp Syndrome |
|
Delayed cranial suture closure, Tapered finger, Abnormal thorax morphology, Camptodactyly, Perica... |
ORPHA:1272 |
Fibrochondrogenesis 1 |
|
Dumbbell-shaped long bone, Thoracic hypoplasia, Camptodactyly, Widely patent coronal suture, Narr... |
OMIM:228520 |
Smith-Kingsmore Syndrome |
|
Decreased circulating IgA level |
OMIM:616638 |
Pagod Syndrome |
|
Meningocele, Ambiguous genitalia, Encephalocele, Abnormal testis morphology, Short stature, Spina... |
ORPHA:991 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:610738 |
Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Hyperbilirubinemia, Dicarboxylic aciduria, Lacticaciduria, Hypoal... |
OMIM:613070 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes, Elevated hemoglobin A1c |
OMIM:610582 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Vitreous hemorrhage |
OMIM:612304 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Hypoplastic labia majora, Thickened cortex of long bones, Postaxial hand polydactyly, Postnatal g... |
OMIM:269150 |
Cyclic Neutropenia |
|
Perianal abscess, Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, ... |
ORPHA:2686 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Epicanthus, Synophrys, Supernumerary nipple, Recurrent sinusitis, Pectus excavatum, Overlapping t... |
OMIM:213980 |
Lead Poisoning |
|
Tubulointerstitial nephritis, Asthma, Skin rash, Abnormal respiratory system physiology, Hyperten... |
ORPHA:330015 |
Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Incre... |
OMIM:615396 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Horizontal eyebrow, Slow-growing scalp hair, Pustule, Psoria... |
ORPHA:294023 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Increased total bilirubin, Alaninuria, Lacticaciduria, Hyperprol... |
OMIM:616299 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Juvenile rheumatoid arthritis, Rheumatoid arthritis, Raynaud phenomenon, Autoimmunity, Recurrent ... |
OMIM:607944 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Knee flexion contracture, Decreased circulating total IgM, Allergic rhinitis, Asthma, Ulnar devia... |
OMIM:618162 |
Gamma-Heavy Chain Disease |
|
Rheumatoid arthritis, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Autoimmune hemolytic ... |
ORPHA:100026 |
Myasthenia Gravis |
|
Anti-muscle-specific tyrosine kinase antibody, Rheumatoid arthritis, Hepatitis, Anti-acetylcholin... |
ORPHA:589 |
Poland Syndrome |
|
Retinal hamartoma, Spina bifida occulta, Abnormal rib morphology, Absent hand, Absence of subcuta... |
ORPHA:2911 |
Familial Isolated Restrictive Cardiomyopathy |
|
Supraventricular arrhythmia, Syncope, Hypertrophic cardiomyopathy, Abnormal left ventricular func... |
ORPHA:75249 |
Cenani-Lenz Syndrome |
|
Downslanted palpebral fissures, Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hypoplasia ... |
ORPHA:3258 |
Phaver Syndrome |
|
Camptodactyly of finger, Triphalangeal thumb, Downslanted palpebral fissures, Myelomeningocele, E... |
ORPHA:2876 |
Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
Cornelia De Lange Syndrome 1 |
|
2-3 toe syndactyly, Synophrys, Elbow flexion contracture, Hypoplastic labia majora, Dislocated ra... |
OMIM:122470 |
Dyggve-Melchior-Clausen Disease |
|
Camptodactyly, Flat glenoid fossa, Narrow greater sciatic notch, Disproportionate short-trunk sho... |
OMIM:223800 |
Atrial Septal Defect, Sinus Venosus Type |
|
Systolic heart murmur, Supraventricular arrhythmia, Premature atrial contractions, Airway obstruc... |
ORPHA:99105 |
Mannosidosis, Alpha B, Lysosomal |
|
Recurrent bacterial infections, Decreased circulating antibody level |
OMIM:248500 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hip dysplasia, Clinodactyly of the 5th finger, Pectus excavatum, Broad hallux, Aplasia of the ute... |
ORPHA:457284 |
White Forelock With Malformations |
|
Finger syndactyly, Epicanthus, Clinodactyly of the 5th finger, Spina bifida occulta, White forelo... |
ORPHA:2475 |
Donnai-Barrow Syndrome |
|
Short sternum, Downslanted palpebral fissures, Bicornuate uterus, Hypoplasia of the iris, Congeni... |
OMIM:222448 |
Chromosome 17Q12 Deletion Syndrome |
|
Unicornuate uterus, Sparse eyebrow, Downslanted palpebral fissures, Upper limb undergrowth, Short... |
OMIM:614527 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Pulmonary arterial hypertension, Flexion contracture, Abnormality of the kidney, Decreased serum ... |
ORPHA:391372 |
Alveolar Echinococcosis |
|
Abnormal pericardium morphology, Anemia, Liver abscess, Abnormal spleen morphology, Cutaneous abs... |
ORPHA:284 |
Juvenile Dermatomyositis |
|
Mucosal telangiectasiae, Calcinosis, Skin rash, Arthritis, Telangiectasia of the skin, Vasculitis... |
ORPHA:93672 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Alopecia, Sparse eyebrow, Sparse scalp hair, Tapered toe, Tapered finger, Downslanted palpebral f... |
ORPHA:544488 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Diabetes mellitus, Elevated hemoglobin A1c, Type I diabetes mellitus |
OMIM:606176 |
Celiac Disease, Susceptibility To, 1 |
|
Recurrent aphthous stomatitis, Thyroiditis, Stomatitis, Eczema, Rickets, Decreased circulating Ig... |
OMIM:212750 |
Gaucher Disease Type 3 |
|
Pulmonary arterial hypertension, Increased susceptibility to fractures, Increased circulating ant... |
ORPHA:77261 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Horizontal ribs, Ambiguous genitalia, Cone-shaped epiphysis, Thoracic hypoplasia, Short stature, ... |
OMIM:613091 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Minimal subcutaneous fat, Camptodactyly, Metatarsus adductus, Dislocated radial head, Pectus exca... |
OMIM:182212 |
Multiple Synostoses Syndrome 1 |
|
2-3 toe syndactyly, Pectus excavatum, Dislocated radial head, Short hallux, Radial deviation of f... |
OMIM:186500 |
Pulmonary Capillary Hemangiomatosis |
|
Elevated pulmonary artery pressure, Exertional dyspnea, Hemothorax, Cytoplasmic antineutrophil an... |
ORPHA:199241 |
Endosteal Hyperostosis, Worth Type |
|
Abnormal rib morphology, Clavicular sclerosis, Diaphyseal thickening |
ORPHA:2790 |
Idiopathic Hypereosinophilic Syndrome |
|
Anemia, Neutrophilia, Dilated cardiomyopathy, Hepatosplenomegaly, Myocardial eosinophilic infiltr... |
ORPHA:3260 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Nephrotic syndrome, Increased circulating antibody level, Skin rash, Arthriti... |
OMIM:615846 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary arterial hypertension, Decreased DLCO, Dyspnea, Cough |
OMIM:234810 |
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant |
|
Pulmonary embolism |
OMIM:612336 |
Sarcoidosis, Susceptibility To, 1 |
|
Pulmonary arterial hypertension, Bronchiectasis, Iridocyclitis, Increased circulating antibody le... |
OMIM:181000 |
Mosaic Trisomy 8 |
|
Camptodactyly of finger, Patellar aplasia, Short stature, Decreased testicular size, Narrow chest... |
ORPHA:96061 |
Behçet Disease |
|
Glomerulopathy, Keratoconjunctivitis sicca, Pericarditis, Myositis, Retrobulbar optic neuritis, P... |
ORPHA:117 |
Gracile Bone Dysplasia |
|
Short stature, Slender long bone, Failure to thrive, Flared metaphysis, Brachydactyly, Micropenis... |
OMIM:602361 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Perianal abscess, Recurrent urinary t... |
OMIM:612541 |
Mevalonic Aciduria |
|
Elevated urine mevalonic acid level, Skin rash, Morbilliform rash, Increased circulating IgD leve... |
OMIM:610377 |
Primary Ciliary Dyskinesia |
|
Abnormal sperm motility, Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Clubbing, Chr... |
ORPHA:244 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Horizontal ribs, Short tibia, Ambiguous genitalia, Sparse eyebrow, Encephalocele, Rhizomelia, Bel... |
OMIM:616300 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Restrictive cardiomyopathy, Congenital megaureter, Decreased circulating total IgM, Renal dysplas... |
ORPHA:369837 |
Hypophosphatasia |
|
Short stature, Craniosynostosis, Narrow chest, Abnormal rib morphology, Abnormal metaphysis morph... |
ORPHA:436 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Sparse eyebrow, Unilateral brachydactyly, Supernumerary nipple, Syndactyly, Bifid uterus, Abnorma... |
ORPHA:1521 |
Yellow Nail Syndrome |
|
Pulmonary arterial hypertension, Rhinitis, Bronchiectasis, Renal neoplasm, Nephropathy, Sinusitis... |
ORPHA:662 |
Xylt1-Cdg |
|
Joint dislocation, Coxa valga, Short femoral neck, Short stature, Short long bone, Synophrys, Cli... |
ORPHA:370930 |
Congenital Tricuspid Stenosis |
|
Pulmonary arterial hypertension, Hypotension, Bacterial endocarditis, Heart murmur, Rheumatoid ar... |
ORPHA:95459 |
Marburg Hemorrhagic Fever |
|
Hypotension, Elevated circulating creatine kinase concentration, Pericarditis, Shock, Capillary l... |
ORPHA:99826 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Short sternum, Ambiguous genitalia, Short stature, Bifid scrotum, Small for gestational age, Epic... |
OMIM:257300 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Anterior pituitary hypoplasia, Short stature, Supernumerary ribs, Missing ribs,... |
OMIM:206900 |
Juvenile Idiopathic Arthritis |
|
Joint dislocation, Skin rash, Arthritis, Autoimmunity, Uveitis, Joint stiffness, Joint swelling, ... |
ORPHA:92 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Arthritis, Neutrophilic infiltration of the skin, Autoimmun... |
OMIM:301054 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Intraalveolar phospholipid accumulati... |
OMIM:610913 |
Hereditary Acrokeratotic Poikiloderma |
|
Camptodactyly of finger, Dystrophic toenail, Dystrophic fingernails, Finger syndactyly, Abnormal ... |
ORPHA:2907 |
Cirrhotic Cardiomyopathy |
|
Elevated pulmonary artery pressure, Abnormal circulating A-type atrial natriuretic peptide concen... |
ORPHA:57777 |
Fibrochondrogenesis |
|
Camptodactyly of finger, Downslanted palpebral fissures, Bell-shaped thorax, Broad ribs, Short st... |
ORPHA:2021 |
Coronary Arterial Fistula |
|
Pulmonary arterial hypertension, Systolic heart murmur, Bacterial endocarditis, Exertional dyspne... |
ORPHA:2041 |
Mirage Syndrome |
|
Aspiration pneumonia, Recurrent urinary tract infections, Microphallus, Hyperkalemia, Intracrania... |
OMIM:617053 |
49,Xxxxy Syndrome |
|
Pulmonary embolism, Renal dysplasia, Asthma, Renal hypoplasia/aplasia, Hip dislocation, Radioulna... |
ORPHA:96264 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Hypoglycemia, Anemia |
OMIM:618838 |
Oeis Complex |
|
11 pairs of ribs, Absent scrotum, Myelomeningocele, Vesicovaginal fistula, Ambiguous genitalia, f... |
OMIM:258040 |
48,Xxxy Syndrome |
|
Pulmonary embolism, Renal dysplasia, Asthma, Hip dislocation, Radioulnar synostosis, Hypoplasia o... |
ORPHA:96263 |
Short Rib-Polydactyly Syndrome |
|
Horizontal ribs, Polydactyly, Short tibia, Thoracic hypoplasia, Abnormal pelvis bone ossification... |
ORPHA:1505 |
Exstrophy-Epispadias Complex |
|
Abnormality of the orbital region, Female sexual dysfunction, Absent penis, Bifid scrotum, Spina ... |
ORPHA:322 |
Combined Oxidative Phosphorylation Deficiency 22 |
|
Pulmonary arterial hypertension, Hyperalaninemia, Congestive heart failure |
OMIM:616045 |
Acquired Generalized Lipodystrophy |
|
Abnormal circulating lipid concentration, Abnormality of complement system, Autoimmunity, Hyperte... |
ORPHA:79086 |
Lumbar Syndrome |
|
Ambiguous genitalia, Myelomeningocele, Bifid scrotum, Spina bifida, Hypoplastic labia majora, Hyp... |
ORPHA:83628 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Pulmonary arterial hypertension, Elevated jugular venous pressure, Abnormally loud pulmonic compo... |
OMIM:265450 |
Thoracolaryngopelvic Dysplasia |
|
Hypoplastic iliac wing, Horizontal ribs, Bell-shaped thorax, Irregular chondrocostal junctions, S... |
OMIM:187760 |
Kenny-Caffey Syndrome, Type 1 |
|
Delayed closure of the anterior fontanelle, Calvarial osteosclerosis, Recurrent bacterial infecti... |
OMIM:244460 |
Cleidocranial Dysplasia |
|
Tapered finger, Hypoplastic inferior ilia, Spina bifida occulta, Abnormal rib morphology, Abnorma... |
ORPHA:1452 |
Neuroleptic Malignant Syndrome |
|
Hypotension, Elevated circulating creatine kinase concentration, Hyponatremia, Hypernatremia, Myo... |
ORPHA:94093 |
Trichothiodystrophy 1, Photosensitive |
|
Telangiectasia, Flexion contracture, Asthma, Keratoconjunctivitis sicca, Recurrent infections, Er... |
OMIM:601675 |
Cardiomyopathy, Dilated, 2C |
|
Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced left ventricular ejection fraction |
OMIM:618189 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Cerebral hemorrhage |
OMIM:614514 |
Poems Syndrome |
|
Pulmonary arterial hypertension, Increased circulating antibody level, Sclerosis of foot bone, Pl... |
ORPHA:2905 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Uric acid nephrolithiasis, Crystalluria, Hyperuricemia, Acute kidney injury, Arthritis, Gout, Ren... |
ORPHA:411543 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Hypotension, Tubulointerstitial nephritis, Hyperuricemia, Stage 5 chronic ... |
OMIM:174000 |
Short-Rib Thoracic Dysplasia 12 |
|
Horizontal ribs, Ambiguous genitalia, Epicanthus, Thoracic dysplasia, Short palm, Short toe, Shor... |
OMIM:269860 |
Shwachman-Diamond Syndrome |
|
Abnormal joint morphology, Osteomyelitis, Hypoamylasemia, Impaired neutrophil chemotaxis, Skin ra... |
ORPHA:811 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology, Slender long bone, Intrauterine growth retardation, Abnormal pelvic gird... |
ORPHA:1506 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short tibia, Spinal dysraphism, Coxa valga, Thoracic hypoplasia, Flexion contracture, Epicanthus,... |
ORPHA:96334 |
Hereditary Hemorrhagic Telangiectasia |
|
Pulmonary arterial hypertension, Pulmonary embolism, Mucosal telangiectasiae, Cerebral hemorrhage... |
ORPHA:774 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Abnormal circulating selenium concentration, Abnormality of the urinary system, Foot joint contra... |
ORPHA:79408 |
Trichothiodystrophy |
|
Tiger tail banding, Multiple joint contractures, Epicanthus, Keratoconjunctivitis sicca, Eczema, ... |
ORPHA:33364 |
Immunodeficiency 21 |
|
Recurrent viral infections, Osteomyelitis, Recurrent fungal infections, Recurrent mycobacterium a... |
OMIM:614172 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida, Abnormal vertebral segmentation and fusion, Sprengel anomaly, Low posterior hairlin... |
ORPHA:2345 |
Idiopathic Aplastic Anemia |
|
Retinal hemorrhage, Autoimmune antibody positivity, Epistaxis, Recurrent infections, Bone marrow ... |
ORPHA:88 |
Pemphigus Erythematosus |
|
Malar rash, Anti-acetylcholine receptor antibody positivity, Autoimmunity, Systemic lupus erythem... |
ORPHA:79480 |
Floating-Harbor Syndrome |
|
Precocious puberty, Congenital posterior urethral valve, Dislocated radial head, Enlarged joints,... |
ORPHA:2044 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Oligoarthritis, Flexion contracture, Synovial hypertrophy, Hip osteoarthritis, Enthesitis, Arthri... |
ORPHA:85408 |
Coffin-Siris Syndrome 1 |
|
Coxa valga, Spina bifida occulta, Dislocated radial head, Thick eyebrow, Aplasia/Hypoplasia of th... |
OMIM:135900 |
Kindler Epidermolysis Bullosa |
|
Camptodactyly of finger, Conjunctivitis, Flexion contracture, Short 4th metacarpal, Finger syndac... |
ORPHA:2908 |
Dubowitz Syndrome |
|
Eczema, Hypospadias, Recurrent infections, Otitis media, Decreased circulating IgA level, Hypocho... |
OMIM:223370 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Coat hanger sign of ribs, Wrist flexion contracture, Flexion contracture, Thoracic hypoplasia, Pr... |
ORPHA:254528 |
Vaginal Atresia |
|
Imperforate hymen, Uterus didelphys, Bicornuate uterus, Transverse vaginal septum, Abnormality of... |
ORPHA:65681 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
Pseudohypoparathyroidism Type 1C |
|
Broad distal phalanx of the thumb, Conjunctivitis, Enamel hypoplasia, Short 4th metacarpal, Short... |
ORPHA:79444 |
Holt-Oram Syndrome |
|
Triphalangeal thumb, Absent thumb, Finger syndactyly, Abnormality of the humerus, Abnormal metaca... |
ORPHA:392 |
Sarcoidosis, Susceptibility To, 2 |
|
Pulmonary arterial hypertension, Pneumothorax, Bronchiectasis, Erythema nodosum, Hypoxemia, Uveit... |
OMIM:612387 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Delayed cranial suture closure, Hypoplastic labia majora, Pectus excavatum, Dislocated radial hea... |
OMIM:268310 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Glycosuria, Athetosis, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
Autosomal Recessive Robinow Syndrome |
|
Camptodactyly of finger, Epicanthus, Toe syndactyly, Elbow dislocation, Pectus excavatum, Alopeci... |
ORPHA:1507 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Patchy osteosclerosis, Recurrent bacterial infections, Hypocalcemic seizures, ... |
OMIM:241410 |
Mody |
|
Transient neonatal diabetes mellitus, Retinopathy, Diabetic ketoacidosis, Glycosuria, Neonatal hy... |
ORPHA:552 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Exertional dyspnea, Autoimmunity, Congestive heart failure, Autoimmune hemolytic anemia, Abnormal... |
ORPHA:90033 |
Klippel-Trénaunay Syndrome |
|
Respiratory insufficiency, Pulmonary embolism, Hematuria, Congestive heart failure, Internal hemo... |
ORPHA:90308 |
Hyperparathyroidism, Transient Neonatal |
|
Undulate ribs, Short ribs, Short long bone, Short femur, Femoral bowing, Wide cranial sutures, Fr... |
OMIM:618188 |
Hallermann-Streiff Syndrome |
|
Sparse eyebrow, Downslanted palpebral fissures, Sparse scalp hair, Small for gestational age, Sle... |
OMIM:234100 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Broad femoral neck, Small hand, Symblepharon, Spina bifida occulta, Thickened cortex of long bone... |
ORPHA:488434 |
Mucopolysaccharidosis Type 4 |
|
Genu valgum, Joint dislocation, Coxa valga, Short thorax, Short stature, Hernia, Grayish enamel, ... |
ORPHA:582 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Coat hanger sign of ribs, Thoracic hypoplasia, Small for gestational age, Large for gestational a... |
ORPHA:254534 |
Melnick-Needles Syndrome |
|
Osteolytic defects of the phalanges of the hand, Delayed cranial suture closure, Short thorax, Co... |
ORPHA:2484 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
Basal Cell Nevus Syndrome 1 |
|
Bifid ribs, Polydactyly, Vertebral fusion, Abnormal sternum morphology, Short 4th metacarpal, Sho... |
OMIM:109400 |
Meconium Aspiration Syndrome |
|
Pulmonary arterial hypertension, Pneumothorax, Pulmonary insufficiency, Aspiration pneumonia, Hyp... |
ORPHA:70588 |
Cockayne Syndrome Type 1 |
|
Conjunctivitis, Enamel hypoplasia, Foot joint contracture, Scarring, Uveitis, Male hypogonadism, ... |
ORPHA:90321 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Downslanted palpebral fissures, Genu valgum, Precocious puberty, Tapered finger, Broad long bone ... |
OMIM:301066 |
Congenital Gerbode Defect |
|
Pulmonary arterial hypertension, Systolic heart murmur, Bacterial endocarditis, Elevated jugular ... |
ORPHA:99095 |
Bent Bone Dysplasia Syndrome 2 |
|
Short tibia, Short sternum, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... |
OMIM:620076 |
Wolf-Hirschhorn Syndrome |
|
Epicanthus, Abnormal thorax morphology, Short hallux, Iris coloboma, High anterior hairline, Mega... |
ORPHA:280 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Upslanted palpebral fissure, Radial bowing, Lower limb undergrowth, Abnormal rib mor... |
ORPHA:3035 |
Monosomy 9Q22.3 |
|
Polydactyly, Downslanted palpebral fissures, Epicanthus, Large for gestational age, Pectus excava... |
ORPHA:77301 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Horizontal ribs, Downslanted palpebral fissures, Postaxial polydactyly, Short stature, Short ribs... |
OMIM:617088 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Conjunctivitis, Downslanted palpebral fissures, Synophrys, Long palpebral fissure, Recurrent otit... |
OMIM:602562 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Heart murmur, Elevated jugular venous pressure, Syncope, Palpita... |
ORPHA:422 |
Monosomy 9P |
|
Downslanted palpebral fissures, Ambiguous genitalia, Upslanted palpebral fissure, Hernia, Epicant... |
ORPHA:261112 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Sparse lateral eyebrow, Adenoma sebaceum, B... |
ORPHA:3353 |
Townes-Brocks Syndrome |
|
Toe syndactyly, Iris coloboma, Absent toe, Abnormal rib morphology, Abnormal vagina morphology, B... |
ORPHA:857 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Hyperuricemia, Renal salt wasting, In... |
OMIM:613845 |
Monosomy 18Q |
|
Left-to-right shunt, Congestive heart failure, Joint hypermobility, Mitral regurgitation, Decreas... |
ORPHA:1600 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Autoimmunity, Panniculitis |
OMIM:618398 |
Glycogen Storage Disease Ic |
|
Pulmonary arterial hypertension, Spider hemangioma, Chronic pancreatitis, Hyperuricemia, Hematuri... |
OMIM:232240 |
Spondyloepiphyseal Dysplasia Tarda |
|
Limited elbow movement, Hip osteoarthritis, Increased bone mineral density, Synovitis, Osteoarthr... |
ORPHA:93284 |
Mgat2-Cdg |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibody level, ... |
ORPHA:79329 |
Say-Barber-Miller Syndrome |
|
Knee flexion contracture, Ankle clonus, Decreased circulating IgG level, Patellar hypoplasia, Dec... |
ORPHA:3132 |
Fryns Syndrome |
|
Thoracic hypoplasia, Camptodactyly, Aplasia of the left hemidiaphragm, Rocker bottom foot, Bicorn... |
OMIM:229850 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Short stature, Missing ribs, Congenital diaphragmatic hernia, Proximal p... |
ORPHA:1488 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Downslanted palpebral fissures, Epicanthus, Missing ribs, Clinodactyly of the 5th finger, Arachno... |
ORPHA:2759 |
Meckel Syndrome 14 |
|
Ambiguous genitalia, Postaxial foot polydactyly, Aplasia of the uterus, Syndactyly, Postaxial han... |
OMIM:619879 |
Campomelic Dysplasia |
|
Short phalanx of finger, Spinal dysraphism, Thoracic hypoplasia, Hallux valgus, Epicanthus, Hip d... |
OMIM:114290 |
Noonan Syndrome 1 |
|
Epicanthus, Radial deviation of finger, Postnatal growth retardation, Ptosis, Male infertility, C... |
OMIM:163950 |
Yunis-Varon Syndrome |
|
Aplasia of the 1st metacarpal, Absent thumb, Aplasia of the distal phalanges of the hand, Tapered... |
ORPHA:3472 |
Neu-Laxova Syndrome 1 |
|
Toe syndactyly, Camptodactyly, Bifid uterus, Radial deviation of finger, Rocker bottom foot, Yell... |
OMIM:256520 |
Infantile Systemic Hyalinosis |
|
Camptodactyly of finger, Increased susceptibility to fractures, Recurrent fractures, Osteomalacia... |
ORPHA:2176 |
Chediak-Higashi Syndrome |
|
Recurrent systemic pyogenic infections, Recurrent bacterial skin infections, Periodontitis, Spont... |
OMIM:214500 |
Chromomycosis |
|
Keratoconjunctivitis sicca, Ankylosis, Osteolysis, Recurrent bacterial infections, Keratitis |
ORPHA:182 |
Otopalatodigital Syndrome, Type Ii |
|
Delayed closure of the anterior fontanelle, Toe syndactyly, Elbow contracture, Pectus excavatum, ... |
OMIM:304120 |
Van Den Ende-Gupta Syndrome |
|
Tapered finger, Hallux valgus, Elbow flexion contracture, Slender metacarpals, Pectus excavatum, ... |
OMIM:600920 |
Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Airway obstruction, Palpitations, Abnormal P wave, Tricuspid regurgitation... |
ORPHA:99106 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Elevated pulmonary artery pressure, Bidirectional shunt, Renal cortical hyperechogenicity, Anuria... |
OMIM:619351 |
Catel-Manzke Syndrome |
|
Camptodactyly, Short femur, Pectus excavatum, Hyperphalangy of the 2nd finger, Ulnar deviation of... |
OMIM:616145 |
Keutel Syndrome |
|
Pulmonary arterial hypertension, Recurrent respiratory infections, Recurrent sinusitis, Recurrent... |
ORPHA:85202 |
Smith-Lemli-Opitz Syndrome |
|
2-3 toe syndactyly, Ambiguous genitalia, Epicanthus, Hip dislocation, Iris coloboma, Abnormal eye... |
ORPHA:818 |
Autoimmune Hemolytic Anemia |
|
Autoimmunity, Congestive heart failure, Abnormal urinary color, Dyspnea, Arrhythmia |
ORPHA:98375 |
Fetal Akinesia Deformation Sequence 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Short palpebral fissure, Hip contracture, Tho... |
OMIM:208150 |
Myhre Syndrome |
|
2-3 toe syndactyly, Camptodactyly, Overlapping toe, Radial deviation of finger, Thick eyebrow, Sp... |
OMIM:139210 |
Gaucher Disease |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Joint dislocation, Osteomyelitis, Rec... |
ORPHA:355 |
Tarp Syndrome |
|
Short sternum, Short palpebral fissure, Finger syndactyly, Clinodactyly, Hand polydactyly, Intrau... |
ORPHA:2886 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Increased circulating interleukin 6 concentration, Perianal abscess, Skin rash, Arthritis, Inflam... |
OMIM:301074 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Vaginal atresia, Parathyroid hypoplasia, Aplasia of the uterus, Hypoparathyroidism, Septate vagin... |
ORPHA:2237 |
Cartilage-Hair Hypoplasia |
|
Spinal dysraphism, Epicanthus, Abnormal distal phalanx morphology of finger, Metaphyseal chondrod... |
ORPHA:175 |
Idiopathic Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Heart murmur, Syncope, Conge... |
ORPHA:275766 |
Fibrous Dysplasia Of Bone |
|
Precocious puberty in females, Coxa vara, Abnormality of femur morphology, Short stature, Hyperpi... |
ORPHA:249 |
Pediatric-Onset Graves Disease |
|
Anti-thyroid peroxidase antibody positivity, Sinus tachycardia, Neutropenia in presence of anti-n... |
ORPHA:525731 |
Localized Scleroderma |
|
Flexion contracture, Arthritis, Fasciitis, Raynaud phenomenon, Autoimmunity, Abnormality of the k... |
ORPHA:90289 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Horizontal ribs, Short tibia, Absent gallbladder, Hypoplastic pubic bone, Short ribs, Short long ... |
OMIM:617925 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating antibody level, Joint hypermobility, Decreased circulating IgA level, Decre... |
OMIM:617062 |
Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Congestive heart failure, Chronic pulmonary obstruction, Respira... |
ORPHA:2414 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Epicanthus, Eczema, Overlapping toe, Superficial dermal perivascular inflammatory infiltrate, Coa... |
ORPHA:83617 |
Ulbright-Hodes Syndrome |
|
Short sternum, Humeroradial synostosis, Enlarged labia minora, Short ribs, Short metacarpal, Hypo... |
ORPHA:3404 |
De Sanctis-Cacchione Syndrome |
|
Conjunctivitis, Entropion, Bilateral cryptorchidism, Severe short stature, Ectropion, Keratitis, ... |
OMIM:278800 |
Trichinellosis |
|
Conjunctivitis, Retinal hemorrhage, Skin rash, Meningitis, Increased circulating IgE level |
ORPHA:863 |
Hurler-Scheie Syndrome |
|
Pulmonary arterial hypertension, Camptodactyly of finger, Dermatan sulfate excretion in urine, Ao... |
OMIM:607015 |
Pseudohypoparathyroidism Type 1A |
|
Short 4th metacarpal, Band keratopathy, Short 3rd metacarpal, Hypergonadotropic hypogonadism, Obe... |
ORPHA:79443 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Increased circulating free fatty acid level, Autoimmunity |
ORPHA:293964 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Hip subluxation, Flexion contracture, Coxa valga, Advanced ossification of carpal bones, Decrease... |
OMIM:271640 |
Cysticercosis |
|
Increased circulating antibody level, Infectious encephalitis, Stiff neck, Iridocyclitis |
ORPHA:1560 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary arterial hypertension, Pulmonary embolism, Hemolytic-uremic syndrome, Glomerulopathy, M... |
ORPHA:79282 |
Charge Syndrome |
|
Epicanthus, Anterior hypopituitarism, Iris coloboma, Abnormal rib morphology, Postnatal growth re... |
ORPHA:138 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Increased circulating antibody level, Conjunctival telangiectasia, Elevated circulating alpha-fet... |
OMIM:606002 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sprengel anomaly, Sandal gap, Brachydactyly, Abnormal rib morphology, Obesity, Abnormal dental en... |
ORPHA:2180 |
Crouzon Syndrome |
|
Conjunctivitis, Sagittal craniosynostosis, Coronal craniosynostosis, Keratitis, Lambdoidal cranio... |
OMIM:123500 |
Fanconi Anemia, Complementation Group L |
|
Absent thumb, Aplasia of the uterus, Micropenis, Growth delay, Absent radius, Upslanted palpebral... |
OMIM:614083 |
Cole-Carpenter Syndrome |
|
Crumpled long bones, Downslanted palpebral fissures, Short stature, Abnormal rib morphology, Abno... |
ORPHA:2050 |
Sickle Cell Disease |
|
Retinopathy, Hemolytic anemia, Target cells, Splenic infarction, Increased red cell sickling tend... |
OMIM:603903 |
Eisenmenger Syndrome |
|
Brain abscess, Ventricular arrhythmia, Supraventricular arrhythmia, Angina pectoris, Palpitations... |
ORPHA:97214 |
Norrie Disease |
|
Abnormal pupil morphology, Hypoplasia of the iris, Anterior chamber synechiae, Uterine rupture, C... |
ORPHA:649 |
Pontocerebellar Hypoplasia Type 7 |
|
Ambiguous genitalia, Absent penis, Microphallus, Epicanthus, Aplasia of the uterus, Gonadal dysge... |
ORPHA:284339 |
Femoral-Facial Syndrome |
|
Hypoplastic acetabulae, Humeroradial synostosis, Toe syndactyly, Aplasia/hypoplasia of the femur,... |
OMIM:134780 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hypotension, Autoimmunity, Hyponatremia |
ORPHA:91354 |
Antley-Bixler Syndrome |
|
Camptodactyly of finger, Delayed cranial suture closure, Downslanted palpebral fissures, Narrow c... |
ORPHA:83 |
Wiedemann-Rautenstrauch Syndrome |
|
Delayed closure of the anterior fontanelle, Flexion contracture, Hypoplasia of the thymus, Broad ... |
OMIM:264090 |
Pulmonary Alveolar Microlithiasis |
|
Respiratory insufficiency, Abnormal circulating calcium concentration, Pneumothorax, Exertional d... |
ORPHA:60025 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Horizontal ribs, Ambiguous genitalia, Preaxial hand polydactyly, Disproportionate shortening of t... |
OMIM:263520 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormality of the elbow, Short stature, Slender long bone, Abnormal rib morphology, Abnormal hip... |
ORPHA:1486 |
Hurler Syndrome |
|
Camptodactyly of finger, Rhinitis, Hernia, Abnormality of the elbow, Short stature, Narrow pelvis... |
ORPHA:93473 |
Aicardi Syndrome |
|
Bifid ribs, Precocious puberty, Sparse lateral eyebrow, Block vertebrae, Spina bifida, Supernumer... |
OMIM:304050 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pectus excavatum |
OMIM:602196 |
Familial Glucocorticoid Deficiency |
|
Hypotension, Recurrent urinary tract infections, Autoimmunity, Renal salt wasting, Hypernatriuria... |
ORPHA:361 |
Cryptococcosis |
|
Osteomyelitis, Prostatitis, Autoimmunity, Respiratory distress, Pleural effusion, Osteolysis, Men... |
ORPHA:1546 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Pulmonary embolism |
ORPHA:745 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Pulmonary arterial hypertension, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, ... |
OMIM:614857 |
Adiposis Dolorosa |
|
Arthritis, Telangiectasia of the skin, Autoimmunity, Recurrent skin infections |
ORPHA:36397 |
Pulmonary Hypertension, Primary, 4 |
|
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Right bundle branch block, I... |
OMIM:615344 |
Necrotizing Enterocolitis |
|
Abnormal glucose homeostasis, Abnormal heart morphology, Leukocytosis, Hyperglycemia, Thrombocyto... |
ORPHA:391673 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Pulmonary arterial hypertension, Intraalveolar phospholipid accumulation, Interstitial pneumoniti... |
ORPHA:217563 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Conjunctivitis, Cellulitis, Arthritis, Fasciitis, Skin rash, Uveitis, Erysipelas, Pericarditis, M... |
ORPHA:32960 |
Familial Renal Glucosuria |
|
Glycosuria, Insulin resistance, Elevated hemoglobin A1c, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Cervical insufficiency, Fin... |
OMIM:130050 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Horizontal ribs, Short phalanx of finger, Thoracic dysplasia, Early ossification of capital femor... |
OMIM:208500 |
Polycythemia Vera |
|
Respiratory insufficiency, Pulmonary embolism, Intermittent claudication, Angina pectoris, Hypert... |
ORPHA:729 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Joint dislocation, Generalized joint laxity, Periodontitis, Autoimmunity, Joint laxity, Recurrent... |
OMIM:130080 |
Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Neoplasm of the pancreas, Retinal capillary hemangioma, Pheochromocytoma, Epidi... |
OMIM:193300 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory insufficiency, Alpha-aminoadipic aciduria, Pulmonary arterial hypertension, Elevated ... |
OMIM:605711 |
Congenital Disorder Of Glycosylation, Type It |
|
Sudden cardiac death, Pulmonary arterial hypertension, Hepatitis, Dilated cardiomyopathy, Recurre... |
OMIM:614921 |
Dermatitis Herpetiformis |
|
Autoimmunity, Eczema, Recurrent fractures |
ORPHA:1656 |
Stevens-Johnson Syndrome |
|
Conjunctivitis, Corneal erosion, Weight loss, Entropion, Dyspareunia, Abnormality of the urethra,... |
ORPHA:36426 |
Townes-Brocks Syndrome 1 |
|
2-3 toe syndactyly, 2-4 finger syndactyly, Clinodactyly of the 5th toe, Metatarsal synostosis, Bi... |
OMIM:107480 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Pulmonary embolism |
ORPHA:743 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Respiratory insufficiency, Unconjugated hyperbilirubinemia, Tachypnea, Recurrent infections, Resp... |
OMIM:618278 |
Oculocerebrorenal Syndrome Of Lowe |
|
Patellar dislocation, Hip dislocation, Buphthalmos, Abnormal rib morphology, Abnormal metaphysis ... |
ORPHA:534 |
Acute Adrenal Insufficiency |
|
Hypotension, Hyperuricemia, Hypovolemia, Autoimmunity, Renal salt wasting, Hyperkalemia, Increase... |
ORPHA:95409 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Pulmonary arterial hypertension, Hyperalaninemia, Hyperprolinemia |
OMIM:619064 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Aplasia of the uterus, Vertebral fusion, Hypoplasia of the vagina |
ORPHA:3109 |
Okamoto Syndrome |
|
Polydactyly, Hip dysplasia, Long palpebral fissure, Extension of hair growth on temples to latera... |
ORPHA:2729 |
Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Intracranial hemorrhage, Arrhythmia |
ORPHA:624 |
Simpson-Golabi-Behmel Syndrome |
|
Camptodactyly of finger, Epicanthus, Toe syndactyly, Supernumerary nipple, Pectus excavatum, Post... |
ORPHA:373 |
Pallister-Hall Syndrome |
|
Ambiguous genitalia, Precocious puberty, Short 4th metacarpal, Gonadotropin deficiency, Toe synda... |
ORPHA:672 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Hypoventilation, Flexion contracture,... |
ORPHA:258 |
Viss Syndrome |
|
Pulmonary arterial hypertension, Genu valgum, Pneumothorax, Generalized joint laxity, Asthma, Epi... |
OMIM:619472 |
X-Linked Hypophosphatemia |
|
Abnormal lower-limb metaphysis morphology, Flared iliac wing, Rachitic rosary, Sacroiliac joint s... |
ORPHA:89936 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Osteomalacia, Reduced ratio of renal calcium clearance to creatinine clea... |
ORPHA:405 |
Kyphomelic Dysplasia |
|
Anterior rib cupping, Thoracic hypoplasia, Short metacarpal, Radial bowing, Flat acetabular roof,... |
OMIM:211350 |
Angioedema, Hereditary, 1 |
|
Reduced hemolytic complement activity, Decreased circulating complement C4 concentration, Autoimm... |
OMIM:106100 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Omphalocele, Bifid uterus |
ORPHA:2736 |
Autoimmune Polyendocrinopathy Type 1 |
|
Autoimmunity, Chronic mucocutaneous candidiasis |
ORPHA:3453 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short phalanx of finger, Flared iliac wing, Irregular tarsal bones, Narrow greater sciatic notch,... |
OMIM:250220 |
Townes-Brocks Syndrome 2 |
|
Spina bifida occulta, Hypospadias, Bifid uterus, Rectovaginal fistula |
OMIM:617466 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Pulmonary arterial hypertension, Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Tr... |
OMIM:619051 |
Dextrocardia |
|
Abnormal rib morphology, Congenital hip dislocation, Abnormal reproductive system morphology, Pan... |
ORPHA:1666 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Hypoplastic lacrimal duct, 2-3 finger syndactyly, Radial deviation of the 3rd finger, Broad hallu... |
OMIM:149730 |
Generalized Eruptive Keratoacanthoma |
|
Conjunctivitis, Abnormal cornea morphology, Keratoconjunctivitis sicca, Ectropion |
ORPHA:411777 |
Felty Syndrome |
|
Rheumatoid arthritis |
OMIM:134750 |
Arboleda-Tham Syndrome |
|
Recurrent aspiration pneumonia, Epicanthus, Pectus excavatum, Short hallux, Genu valgum, Recurren... |
OMIM:616268 |
Sarcoidosis |
|
Alopecia, Leukopenia, Anemia, Hemolytic anemia, Increased T cell count, Hepatomegaly, Eosinophili... |
ORPHA:797 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Triphalangeal thumb, Preaxial hand polydactyly, Spina bifida, Abnormal thumb morphology, Congenit... |
ORPHA:1120 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Pulmonary arterial hypertension |
OMIM:300887 |
Cushing Disease |
|
Sparse scalp hair, Optic nerve compression, Impaired glucose tolerance, Decreased eosinophil coun... |
ORPHA:96253 |
Toxic Epidermal Necrolysis |
|
Conjunctivitis, Corneal erosion, Weight loss, Entropion, Abnormality of the urethra, Pancreatitis... |
ORPHA:537 |
Dermatomyositis |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Recurrent respiratory infections, Sin... |
ORPHA:221 |
Congenital Tracheomalacia |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Tracheobronchomalacia, Pneumothorax, ... |
ORPHA:95430 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Pulmonary arterial hypertension, Urinary incontinence, Brain abscess, Respiratory distress, Recur... |
OMIM:616482 |
Carney Complex |
|
Precocious puberty, Neoplasm of the pancreas, Dorsocervical fat pad, Oligospermia, Hirsutism, Ova... |
ORPHA:1359 |
Cardiospondylocarpofacial Syndrome |
|
Fusion of middle ear ossicles, Telecanthus, Pseudoepiphyses, Short stature, Epicanthus, Decreased... |
OMIM:157800 |
Restrictive Dermopathy |
|
Camptodactyly of finger, Multiple joint contractures, Sparse hair, Telecanthus, Increased anterio... |
ORPHA:1662 |
Lymphedema And Cerebral Arteriovenous Anomaly |
|
Pulmonary arterial hypertension |
OMIM:152900 |
Pallister-Killian Syndrome |
|
Short phalanx of finger, Delayed cranial suture closure, Flexion contracture, Epicanthus, Hypopla... |
OMIM:601803 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Pulmonary arterial hypertension, Hypertension |
OMIM:613355 |
Loeys-Dietz Syndrome |
|
Camptodactyly of finger, Joint dislocation, Uterine rupture, Pectus excavatum, Arachnodactyly, At... |
ORPHA:60030 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure |
OMIM:178400 |
Pulmonary Hypertension, Primary, 3 |
|
Pulmonary arterial hypertension, Increased pulmonary vascular resistance, Dyspnea, Elevated pulmo... |
OMIM:615343 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Joint laxity, Autoimmunity, Hypertension, Recurrent otitis media |
ORPHA:449291 |
Roberts-Sc Phocomelia Syndrome |
|
Wrist flexion contracture, Absent thumb, Tetraphocomelia, Elbow flexion contracture, Long penis, ... |
OMIM:268300 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormal vertebral segmentation and fusion, Sprengel anomaly, Low posterior hairline, Abnormal ri... |
OMIM:118100 |
Osteogenesis Imperfecta, Type Iii |
|
Pulmonary arterial hypertension, Protrusio acetabuli, Bowing of limbs due to multiple fractures, ... |
OMIM:259420 |
Shigellosis |
|
Conjunctivitis, Failure to thrive in infancy, Myocarditis, Arthritis, Ulcerative colitis, Uveitis... |
ORPHA:810 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Moderate albuminuria, Membranoproliferative glomerulonephritis, Recurrent otitis media, Osteoporo... |
OMIM:619525 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Pulmonary arterial hypertension, Aortic regurgitation, Mitral regurgitation |
OMIM:614651 |
Familial Chylomicronemia Syndrome |
|
Recurrent pancreatitis, Pulmonary embolism, Perianal abscess, Acute pancreatitis, Hyperlipidemia,... |
ORPHA:444490 |
Hydrolethalus Syndrome 1 |
|
Preaxial hand polydactyly, Upper limb undergrowth, Anencephaly, Arrhinencephaly, Proximal tibial ... |
OMIM:236680 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Abnormality of the knee, Hypoventilat... |
ORPHA:98915 |
Pulmonary Hypertension, Primary, 5 |
|
Pulmonary arterial hypertension, Exertional dyspnea, Syncope, Angina pectoris, Right ventricular ... |
OMIM:265400 |
Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Anencephaly, Congenital diaphragmatic hernia, Sirenomelia, C... |
ORPHA:63260 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
Nodular Non-Suppurative Panniculitis |
|
Inflammatory abnormality of the eye, Autoimmunity, Panniculitis |
ORPHA:33577 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Pulmonary arterial hypertension, Hypokalemia, Hypertension, Intracranial hemorrhage, Epistaxis, S... |
ORPHA:369929 |
Aregenerative Anemia |
|
Abnormality of interleukin secretion, Dyspnea, Bone marrow hypocellularity |
ORPHA:101096 |
Vascular Ehlers-Danlos Syndrome |
|
Hypoplastic lacrimal duct, Epicanthus, Uterine rupture, Pectus excavatum, Cigarette-paper scars, ... |
ORPHA:286 |
Achalasia, Familial Esophageal |
|
Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:200400 |
Acute Transverse Myelitis |
|
Urinary incontinence, Extrapulmonary tuberculosis, Urinary bladder sphincter dysfunction, Urinary... |
ORPHA:139417 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Reduced haptoglobin level, Pulmonary embolism, Acute kidney injury, Hemoglobinuria, Glycosuria, U... |
ORPHA:447 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Genu varum, Genu valgum, Delayed ossification of carpal bones, Laryngotracheomalacia, Osteopenia,... |
OMIM:271510 |
Charge Syndrome |
|
Gonadotropin deficiency, Iris coloboma, Parathyroid hypoplasia, Hypoparathyroidism, Abnormal rib ... |
OMIM:214800 |
Cold Agglutinin Disease |
|
Abnormal urinary color, Autoimmunity |
ORPHA:56425 |
Transketolase Deficiency |
|
Conjunctivitis, Secondary amenorrhea, Uveitis, Cataract, Proportionate short stature, Seborrheic ... |
ORPHA:488618 |
19P13.3 Microduplication Syndrome |
|
Pulmonary arterial hypertension, Osteoporosis, Hip dislocation, Hip subluxation |
ORPHA:447980 |
Braddock Syndrome |
|
Neonatal respiratory distress, Unilateral renal agenesis, Pulmonary arterial hypertension |
ORPHA:52047 |
Osteogenesis Imperfecta |
|
Flexion contracture, Thoracic hypoplasia, Pectus excavatum, Dislocated radial head, Abnormal rib ... |
ORPHA:666 |
Adult Syndrome |
|
Conjunctivitis, Sparse scalp hair, Toe syndactyly, Fair hair, Sparse axillary hair, Absent nipple... |
OMIM:103285 |
Hughes-Stovin Syndrome |
|
Pulmonary arterial hypertension, Pulmonary embolism, Cardiorespiratory arrest, Cough, Dyspnea, Va... |
ORPHA:228116 |
Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Arthritis, Chilblains, Raynaud phenomenon, Autoimmunity, Increased c... |
ORPHA:51 |
Von Hippel-Lindau Disease |
|
Pancreatic cysts, Neoplasm of the pancreas, Retinal capillary hemangioma, Epididymal cyst, Pancre... |
ORPHA:892 |
Craniofaciofrontodigital Syndrome |
|
Pulmonary arterial hypertension, Persistent fetal circulation, Finger joint hypermobility, Respir... |
ORPHA:363705 |
Mucopolysaccharidosis, Type Vi |
|
Pulmonary arterial hypertension, Cardiomyopathy, Genu valgum, Flexion contracture, Pulmonary insu... |
OMIM:253200 |
Dehydrated Hereditary Stomatocytosis |
|
Increased total bilirubin, Abnormal blood potassium concentration, Increased circulating ferritin... |
ORPHA:3202 |
Alström Syndrome |
|
Recurrent sinusitis, Glomerulonephritis, Abnormal coronary artery physiology, Hyperlipidemia, Rec... |
ORPHA:64 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Pulmonary arterial hypertension, Hypertension, Wormian bones, Tachypnea |
OMIM:613320 |
Pulmonary Hypertension, Primary, 1 |
|
Pulmonary arterial hypertension, Telangiectasia, Hypertension, Increased pulmonary vascular resis... |
OMIM:178600 |
Total Anomalous Pulmonary Venous Return 1 |
|
Pulmonary arterial hypertension, Recurrent respiratory infections |
OMIM:106700 |
Pemphigus Foliaceus |
|
Crusting erythematous dermatitis, Autoimmunity, Pustule, Erythroderma, Psoriasiform dermatitis |
ORPHA:79481 |
Brain-Lung-Thyroid Syndrome |
|
Pulmonary arterial hypertension, Vesicoureteral reflux, Respiratory failure, Asthma, Respiratory ... |
ORPHA:209905 |
Cirrhosis, Familial |
|
Pulmonary arterial hypertension, Fulminant hepatitis, Hypertension, Increased level of propylene ... |
OMIM:215600 |
Absence Of The Pulmonary Artery |
|
Pulmonary arterial hypertension, Systolic heart murmur, Hypocapnia, Bronchiectasis, Abnormal EKG,... |
ORPHA:980 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Progressive flexion contractures, Transient hyperphenylalaninemia, Hypertension, Rheumatoid arthr... |
ORPHA:98808 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Cachexia |
ORPHA:93941 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Conjunctivitis, Lacrimal duct stenosis, Periorbital dermoid cyst, Tapered finger, Clinodactyly, D... |
OMIM:615560 |
Cardiac-Urogenital Syndrome |
|
2-3 toe syndactyly, Ambiguous genitalia, Bifid scrotum, Patent urachus, Unilateral cryptorchidism... |
OMIM:618280 |
Beta-Thalassemia Intermedia |
|
Pulmonary arterial hypertension, Increased susceptibility to fractures, Proximal tubulopathy, Abn... |
ORPHA:231222 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Rhizomelic arm shortening, Iliac crest serration, Myocarditis, Short metacarpal, Narrow chest, Di... |
ORPHA:93317 |
Mucopolysaccharidosis Type 3 |
|
Genu valgum, Flexion contracture, Aspiration pneumonia, Avascular necrosis of the capital femoral... |
ORPHA:581 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Pulmonary arterial hypertension, Recurrent pneumonia, Hypospadias, Hydronephrosis |
OMIM:616449 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Orthostatic hypotension due to autonomic dysfunction, Septic arthritis, Neuropathic arthropathy, ... |
ORPHA:642 |
Classic Homocystinuria |
|
Pulmonary embolism, Genu valgum, Recurrent fractures, Cerebral ischemia, Hypertension, Intracrani... |
ORPHA:394 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
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Pulmonary arterial hypertension, Decreased circulating renin level, Hypokalemia, Hypertension, Se... |
OMIM:615474 |
Blau Syndrome |
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Pulmonary arterial hypertension, Camptodactyly of finger, Iridocyclitis, Erythema nodosum, Skin r... |
ORPHA:90340 |
Nestor-Guillermo Progeria Syndrome |
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Pulmonary arterial hypertension, Delayed closure of the anterior fontanelle, Right bundle branch ... |
OMIM:614008 |
Vater/Vacterl Association |
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Triphalangeal thumb, Abnormal sternum morphology, Spina bifida, Short thumb, Hypoplasia of the ra... |
OMIM:192350 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
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Pulmonary arterial hypertension, Intraalveolar phospholipid accumulation, Apnea, Dyspnea, Respira... |
OMIM:265120 |
Glossopharyngeal Neuralgia |
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Autoimmunity, Jaw claudication, Syncope, Bradycardia |
ORPHA:221098 |
Tetrasomy 5P |
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Pulmonary arterial hypertension, Heart murmur, Congestive heart failure, Respiratory distress, Re... |
ORPHA:3309 |
Campomelia, Cumming Type |
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Pancreatic cysts, Abnormal thorax morphology, Clubbing of toes, Brachydactyly, Abnormal rib morph... |
ORPHA:1318 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Conjunctivitis, Rhinitis, Corneal erosion, Vaginal stricture, Inflammatory abnormality of the ski... |
ORPHA:95455 |
X-Linked Intellectual Disability, Nascimento Type |
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Recurrent ear infections, Pulmonary arterial hypertension, Vesicoureteral reflux, Mitral stenosis... |
ORPHA:163956 |
Gaucher Disease, Type I |
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Pulmonary arterial hypertension, Hypertension, Epistaxis, Mitral regurgitation, Dyspnea, Aortic v... |
OMIM:230800 |
Holzgreve Syndrome |
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Abnormal metacarpal morphology, Hand polydactyly, Abnormal morphology of ulna, Abnormal rib morph... |
ORPHA:2167 |
Familial Osteodysplasia, Anderson Type |
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Aplastic clavicle, Aplasia/hypoplasia of the femur, Missing ribs, Clinodactyly of the 5th finger,... |
ORPHA:2769 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
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Pulmonary arterial hypertension, Hypospadias, Bradycardia, Respiratory distress |
OMIM:619272 |
Thoracic Outlet Syndrome |
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Abnormal rib morphology |
ORPHA:97330 |
Cardiomyopathy, Dilated, 2D |
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Pulmonary arterial hypertension, Reduced left ventricular ejection fraction, Cardiogenic shock, D... |
OMIM:619371 |
Stiff-Person Syndrome |
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Tachycardia, Autoimmunity, Hypertension |
OMIM:184850 |
Combined Immunodeficiency-Enteropathy Spectrum |
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Hepatitis, Autoimmunity, Autoimmune hemolytic anemia, Hashimoto thyroiditis, Recurrent abscess fo... |
ORPHA:436252 |
Stuve-Wiedemann Syndrome 1 |
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Respiratory insufficiency, Pulmonary arterial hypertension, Knee flexion contracture, Talipes val... |
OMIM:601559 |
Autosomal Recessive Malignant Osteopetrosis |
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Pulmonary arterial hypertension, Recurrent fractures, Osteopetrosis, Hypophosphatemia, Chronic rh... |
ORPHA:667 |
Melas |
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Pulmonary arterial hypertension, Recurrent pancreatitis, Proximal tubulopathy, Concentric hypertr... |
ORPHA:550 |
Osteopetrosis With Renal Tubular Acidosis |
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Pulmonary arterial hypertension, Recurrent fractures, Renal tubular acidosis, Distal renal tubula... |
ORPHA:2785 |
22Q11.2 Deletion Syndrome |
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Vesicoureteral reflux, Patellar dislocation, Asthma, Arthritis, Polycystic kidney dysplasia, Auto... |
ORPHA:567 |
15Q Overgrowth Syndrome |
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Pulmonary arterial hypertension, Ureterovesical stenosis, Nephroblastoma, Hydronephrosis, Joint h... |
ORPHA:314585 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
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Brain abscess, Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad telangiectases, Hemat... |
OMIM:187300 |
Addison Disease |
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Hypotension, Generalized bone demineralization, Hyperuricemia, Autoimmunity, Renal salt wasting, ... |
ORPHA:85138 |
Fg Syndrome Type 1 |
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Pulmonary arterial hypertension, Generalized joint laxity, Progressive flexion contractures, Hypo... |
ORPHA:93932 |
Isolated Congenital Alacrima |
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Conjunctivitis, Corneal erosion, Distichiasis, Lacrimal punctal atresia, Ptosis, Lacrimal gland h... |
ORPHA:91416 |
Melnick-Needles Syndrome |
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Pulmonary arterial hypertension, Delayed cranial suture closure, Osteolytic defects of the phalan... |
OMIM:309350 |
Ogden Syndrome |
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Pulmonary arterial hypertension, Torsade de pointes, Supraventricular tachycardia, Delayed crania... |
OMIM:300855 |
Atrial Septal Defect 9 |
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Pulmonary arterial hypertension |
OMIM:614475 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
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Camptodactyly of finger, Shoulder dislocation, Flexion contracture, Elbow dislocation, Dislocated... |
OMIM:143095 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
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Pulmonary arterial hypertension, Vesicoureteral reflux, Microphallus, Laryngotracheomalacia, Rena... |
OMIM:618454 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
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Small for gestational age, Synophrys, Bilateral cryptorchidism, Astigmatism, Overweight, Cryptorc... |
OMIM:617796 |
Reactive Arthritis |
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Conjunctivitis, Recurrent aphthous stomatitis, Osteomyelitis, Weight loss, Enthesitis, Arthritis,... |
ORPHA:29207 |
Porphyria, Congenital Erythropoietic |
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Conjunctivitis, Alopecia, Joint contracture of the hand, Short stature, Corneal scarring, Hypertr... |
OMIM:263700 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Sagittal craniosynostosis, Ischemic stroke, Transient ischemic attack, Unilateral renal agenesis,... |
ORPHA:500150 |
Alagille Syndrome 1 |
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Upslanted palpebral fissure, Posterior embryotoxon, Axenfeld anomaly, Hypoplasia of the ulna, Mic... |
OMIM:118450 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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Pulmonary arterial hypertension, Recurrent pneumonia, Hypospadias, Contracture of the proximal in... |
ORPHA:464738 |
Marshall-Smith Syndrome |
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Pulmonary arterial hypertension, Aspiration pneumonia, Recurrent fractures, Recurrent aspiration ... |
OMIM:602535 |
Relapsing Polychondritis |
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Conjunctivitis, Alopecia, Recurrent aphthous stomatitis, Scleritis, Hepatitis, Arthritis, Inflamm... |
ORPHA:728 |
Pulmonary Hypertension, Primary, 2 |
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Pulmonary arterial hypertension, Increased pulmonary vascular resistance, Abnormally loud pulmoni... |
OMIM:615342 |
Tetrasomy 9P |
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Pulmonary arterial hypertension, Joint dislocation, Recurrent urinary tract infections, Renal dys... |
ORPHA:3310 |
Degcags Syndrome |
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Abnormal renal cortex morphology, Pneumonia, Genu valgum, Asthma, Recurrent infections, Bilateral... |
OMIM:619488 |
Kagami-Ogata Syndrome |
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Pulmonary arterial hypertension, Flexion contracture, Pulmonic stenosis |
OMIM:608149 |
Geleophysic Dysplasia 2 |
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Respiratory insufficiency, Pulmonary arterial hypertension, Mitral stenosis, Limitation of joint ... |
OMIM:614185 |
Hutchinson-Gilford Progeria Syndrome |
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Left ventricular diastolic dysfunction, Hip dislocation, Angina pectoris, Progressive clavicular ... |
ORPHA:740 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
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Pulmonary arterial hypertension, Flexion contracture, Central sleep apnea, Camptodactyly, Prolong... |
OMIM:620029 |
Erythrocytosis, Familial, 2 |
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Pulmonary arterial hypertension, Hypotension, Cerebral hemorrhage |
OMIM:263400 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
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Brain abscess, Facial telangiectasia, Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpa... |
OMIM:600376 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Pulmonary arterial hypertension, Camptodactyly of finger, Facial telangiectasia, Elbow flexion co... |
OMIM:602782 |
Radio-Renal Syndrome |
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Abnormality of the elbow, Hypoplasia of the radius, Severe short stature, Brachydactyly, Abnormal... |
ORPHA:3015 |
Carey-Fineman-Ziter Syndrome 1 |
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Respiratory insufficiency, Flexion contracture, Elevated circulating creatine kinase concentratio... |
OMIM:254940 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Sparse scalp hair, Impaired glucose tolerance, Decreased eosinophil count, Lymphopenia, Diabetes ... |
ORPHA:99889 |
3Q29 Microdeletion Syndrome |
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Pulmonary arterial hypertension, Horseshoe kidney, Hypospadias, Joint hyperflexibility |
ORPHA:65286 |
Cardiomyopathy, Dilated, 1S |
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Sudden cardiac death, Pulmonary arterial hypertension, Reduced left ventricular ejection fraction... |
OMIM:613426 |
Angioosteohypertrophic Syndrome |
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Pulmonary embolism, Hematuria, Congestive heart failure, Gastrointestinal hemorrhage, Telangiecta... |
ORPHA:2346 |
Myasthenia Gravis |
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Autoimmunity |
OMIM:254200 |
Sturge-Weber Syndrome |
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Pulmonary embolism, Conjunctival telangiectasia |
ORPHA:3205 |
Adams-Oliver Syndrome |
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Pulmonary arterial hypertension, Portal hypertension, Gastrointestinal hemorrhage |
ORPHA:974 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Cardiac arrest, Hypercholesterolemia, Knee dislocation, Conjugated hyperbilirubinemia, Tricuspid ... |
OMIM:619534 |
Scimitar Syndrome |
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Pulmonary arterial hypertension, Pneumothorax, Left-to-right shunt, Respiratory distress, Congest... |
ORPHA:185 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Patent foramen ovale, Truncus arteriosus, Ventricular septal defect, Perimembranous ventricular s... |
OMIM:600001 |
Proteus Syndrome |
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Sudden cardiac death, Pulmonary embolism, Abnormality of the wrist, Hip dislocation, Long penis, ... |
ORPHA:744 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Pulmonary arterial hypertension, Hip subluxation, Vesicoureteral reflux, Aspiration pneumonia, As... |
ORPHA:444077 |
Lysosomal Acid Lipase Deficiency |
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Hypotension, Abnormal urine potassium concentration, Pulmonary arterial hypertension, Hypercholes... |
ORPHA:275761 |
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome |
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Pulmonary arterial hypertension, Hypoxemia, Hypospadias, Recurrent respiratory infections, Microp... |
ORPHA:2282 |
Ctcf-Related Neurodevelopmental Disorder |
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Pulmonary arterial hypertension, Pulmonary hemorrhage, Craniosynostosis, Phimosis, Mitral regurgi... |
ORPHA:363611 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
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Pulmonary arterial hypertension, Left ventricular outflow tract obstruction, Exertional dyspnea, ... |
ORPHA:99050 |
Familial Thrombocytosis |
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Transient ischemic attack, Syncope, Cerebral ischemia, Pulmonary arterial hypertension |
ORPHA:71493 |
Congenital Alveolar Capillary Dysplasia |
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Pulmonary arterial hypertension, Aortic valve stenosis, Respiratory distress, Hydronephrosis |
ORPHA:210122 |
Generalized Arterial Calcification Of Infancy |
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Pulmonary arterial hypertension, Retinal hemorrhage, Abnormality of the knee, Osteomalacia, Trans... |
ORPHA:51608 |
Adams-Oliver Syndrome 5 |
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Pulmonary arterial hypertension, Pulmonic stenosis |
OMIM:616028 |
Atrioventricular septal defect 3 |
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Pulmonary arterial hypertension, Midsystolic murmur, Hypertension, Congestive heart failure, Firs... |
OMIM:600309 |
Laubry-Pezzi Syndrome |
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Elevated pulmonary artery pressure, Right ventricular outlet tract obstruction, Diastolic heart m... |
ORPHA:99094 |
Lipodystrophy, Familial Partial, Type 7 |
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Pulmonary arterial hypertension, Recurrent pancreatitis, Hypertension, Pleural effusion, Polyuria... |
OMIM:606721 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Pulmonary arterial hypertension, Pulmonary insufficiency, Hydroureter, Pleural effusion, Hypospad... |
OMIM:265380 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
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Pulmonary arterial hypertension, Hypertension, Tachypnea |
OMIM:613834 |
Encephalocraniocutaneous Lipomatosis |
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Pulmonary arterial hypertension, Aortic valve stenosis, Osteochondrosis, Osteolysis |
ORPHA:2396 |
Juvenile Polyposis Syndrome |
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Pulmonary arterial hypertension, Brain abscess, Mucosal telangiectasiae, Transient ischemic attac... |
ORPHA:2929 |
Ramon Syndrome |
|
Telangiectasia, Juvenile rheumatoid arthritis |
OMIM:266270 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
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Neonatal respiratory distress, Recurrent infections, Pulmonary arterial hypertension |
OMIM:620025 |
Fontaine Progeroid Syndrome |
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Respiratory insufficiency, Pulmonary arterial hypertension, Pneumothorax, Recurrent aspiration pn... |
OMIM:612289 |
Aorta Coarctation |
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Pulmonary arterial hypertension, Hypertension, Congestive heart failure |
ORPHA:1457 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Pulmonary arterial hypertension, Spontaneous, recurrent epistaxis, Bacterial endocarditis |
ORPHA:2072 |
17Q11 Microdeletion Syndrome |
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Pulmonary arterial hypertension, Hypertension, Hypertrophic cardiomyopathy, Osteolysis, Osteoporo... |
ORPHA:97685 |
Congenital Total Pulmonary Venous Return Anomaly |
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Pulmonary arterial hypertension, Exertional dyspnea, Apneic episodes in infancy, Respiratory dist... |
ORPHA:99125 |
Cog1-Cdg |
|
Pulmonary arterial hypertension, Flat acetabular roof, Osteopenia |
ORPHA:263508 |
Adams-Oliver Syndrome 1 |
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Pulmonary arterial hypertension, Aortic valve stenosis, Pulmonic stenosis, Hypertension |
OMIM:100300 |
Yunis-Varon Syndrome |
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Pulmonary arterial hypertension, Aspiration pneumonia, Heart murmur, Flat acetabular roof, Hip di... |
OMIM:216340 |