Immunodeficiency, Common Variable, 5 |
|
Antinuclear antibody positivity, Recurrent respiratory infections, Chronic decreased circulating ... |
OMIM:613495 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Autoimmune thrombocyt... |
OMIM:619220 |
Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... |
OMIM:619632 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Recurrent herpes, Increased circulating IgA level, Increased circula... |
OMIM:610163 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... |
OMIM:605258 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ... |
OMIM:608106 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent tonsillitis, Recurrent p... |
OMIM:613779 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Glomerulonephritis, Nephrotic range proteinuria, Autoimmune thr... |
OMIM:613496 |
C1Q Deficiency 1 |
|
Membranoproliferative glomerulonephritis, Autoimmunity, Recurrent infections, Systemic lupus eryt... |
OMIM:613652 |
Immunodeficiency 64 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Increased circulating IgA level, Autoimmune thrombocytopenia, Antinu... |
OMIM:618534 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Glomerulonephritis, Autoimmune hemolytic anemia, Increased circulating antibody level, Pneumonia |
OMIM:247800 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Proteinuria, Autoimmunity, Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocy... |
OMIM:617006 |
Systemic Lupus Erythematosus 16 |
|
Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Decreased circula... |
OMIM:614420 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Skin rash, Autoimmunity, Glomerulonephritis, Micro... |
ORPHA:567544 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Decreased circulating IgG3 level, Respira... |
OMIM:619773 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Mesangial hypercellularity, ... |
ORPHA:329918 |
Histiocytosis, Familial Lipochrome |
|
Increased alpha-globulin, Polyarticular arthritis, Increased circulating antibody level, Recurren... |
OMIM:235900 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C-reactive protein concent... |
OMIM:618048 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... |
OMIM:300636 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections |
OMIM:242870 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Autoimmunity, Severe varicella zoster infection, Recurrent tonsillitis, Bronchiectasis... |
ORPHA:397596 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis |
OMIM:619549 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Elevated circulating C-reactive protein concentration, Decreased circulating complement C4 concen... |
OMIM:615559 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, In... |
OMIM:601859 |
Immunoglobulin A Deficiency 1 |
|
Recurrent respiratory infections, Autoimmunity, Recurrent infections, Recurrent infection of the ... |
OMIM:137100 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Osteopenia, Eczema, Autoimmunity, Abnormal immunoglobulin level, Invasive fungal infection, Recur... |
ORPHA:98813 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, B... |
OMIM:615513 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
Immunoglobulin A Deficiency 2 |
|
Recurrent sinopulmonary infections, Recurrent infection of the gastrointestinal tract, Autoimmuni... |
OMIM:609529 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... |
OMIM:613493 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Recurrent viral infections, Severe varicella zoster infection, S... |
OMIM:615897 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Glomerulonephritis, Increased circulating IgA level |
OMIM:314000 |
Asthma, Short Stature, And Elevated Iga |
|
Asthma, Increased circulating IgA level |
OMIM:208600 |
Postinfectious Vasculitis |
|
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Severe varicel... |
ORPHA:48435 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Autoimmunity, Recurrent viral infections, Recurrent mycobacterial infections, Recurren... |
ORPHA:275 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, R... |
OMIM:603909 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Autoimmunity, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial ... |
OMIM:240500 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating ... |
OMIM:613500 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... |
OMIM:613502 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... |
OMIM:618944 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocy... |
OMIM:613953 |
Complement Component C1R/C1S Deficiency |
|
Autoimmunity, Discoid lupus rash, Arthritis, Complement deficiency, Nephritis, Recurrent bronchitis |
OMIM:216950 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Recurrent urinary tract infections... |
OMIM:618495 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Decreased circulating IgE, Decreased circulating IgG level, Meningitis, Impaired memory B... |
OMIM:308230 |
Eosinophilia, Familial |
|
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Recurrent respiratory infections, Myositis, Antiphospholipid antibody positivity, Rheumatoid fact... |
OMIM:615934 |
Immunodeficiency 62 |
|
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Recurrent upper respir... |
OMIM:618459 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Recurrent infection... |
OMIM:618982 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... |
OMIM:612692 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... |
OMIM:308220 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypergonadotropic hypogonadism, Female hypogonadism, Hypospadias, Ab... |
ORPHA:755 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Recurrent infections, Increased circulating IgM level, Recurrent b... |
ORPHA:2688 |
Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM |
OMIM:236000 |
Complement Component 6 Deficiency |
|
Decreased circulating complement C6 concentration, Reduced hemolytic complement activity, Recurre... |
OMIM:612446 |
Complement Component 4A Deficiency |
|
Glomerulonephritis, Vasculitis, Reduced hemolytic complement activity, Systemic lupus erythematos... |
OMIM:614380 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Renal insufficiency, Recurrent skin infections, Glomeruloneph... |
OMIM:610984 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neonatal sepsis, Increased circulating IgA level, Autoimmune thrombocytopenia, Recurrent viral in... |
ORPHA:169154 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Mesangial hypercellularity, Antinuclear an... |
OMIM:616414 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
Immunodeficiency, Common Variable, 7 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Chronic (near) absent circu... |
OMIM:614699 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the... |
OMIM:243700 |
Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... |
OMIM:193670 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... |
OMIM:607685 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Pneumonia, Recurrent pneumonia, Bronchiectasis, Neutropenia in presence... |
OMIM:607594 |
Immunodeficiency 36 With Lymphoproliferation |
|
Autoimmunity, Persistent CMV viremia, Recurrent upper respiratory tract infections, Bronchiectasi... |
OMIM:616005 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... |
OMIM:608184 |
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Cryoglobulinemia, Increased circulating beta-2-microglobulin level, Monoclonal immunoglobulin M p... |
ORPHA:209004 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid... |
ORPHA:90280 |
Complement Component 7 Deficiency |
|
Decreased circulating complement C7 concentration, Recurrent Neisserial infections, Recurrent men... |
OMIM:610102 |
Immunodeficiency 27A |
|
Increased inflammatory response, Abnormal bronchus physiology, Rheumatoid factor positive, Pneumo... |
OMIM:209950 |
C1Q Deficiency 3 |
|
Antinuclear antibody positivity, Decreased circulating C1q concentration, Recurrent bacterial men... |
OMIM:620322 |
Simple Cryoglobulinemia |
|
Rheumatoid factor positive, Monoclonal elevation of circulating IgA, Myocardial infarction, Mesan... |
ORPHA:91139 |
Complement Component 8 Deficiency, Type I |
|
Meningitis, Decreased circulating complement C8 concentration, Systemic lupus erythematosus |
OMIM:613790 |
Immunodeficiency, Common Variable, 10 |
|
Recurrent oral herpes, Psoriasiform dermatitis, Frequent Giardia lamblia infestation, Anti-thyroi... |
OMIM:615577 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM |
OMIM:153600 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent bacterial infections, Absent isohemagglutinin level, Recurrent otit... |
OMIM:613501 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Increased cir... |
OMIM:617388 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Liver kidney microsome type 1 antibody positivity, ... |
ORPHA:2137 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Sinusitis, Recurrent viral infections, Acute otitis media, Recurrent candida in... |
ORPHA:572 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Agammaglobulinemia, Decreased circulating total IgM, Recurrent ... |
OMIM:619707 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level |
OMIM:146830 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia |
OMIM:267900 |
Severe Combined Immunodeficiency, X-Linked |
|
Skin rash, Pneumonia, Reduced natural killer cell activity, Recurrent bacterial meningitis, Recur... |
OMIM:300400 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Anti-thyroid peroxidase antibody p... |
ORPHA:277 |
Pgm3-Cdg |
|
Rheumatoid factor positive, Recurrent viral infections, Sepsis, Increased circulating IgG level, ... |
ORPHA:443811 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections, Partial functional complement factor D deficiency |
OMIM:613912 |
Satoyoshi Syndrome |
|
Abnormality of the knee, Short stature, Tapered finger, Abnormal hair morphology, Abnormality of ... |
ORPHA:3130 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Dysgammaglobulinemia, Elevated circulating C-reactive protein c... |
OMIM:308240 |
Selective Igm Deficiency |
|
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... |
ORPHA:331235 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Immunodeficiency 23 |
|
Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Rheumatoid factor pos... |
OMIM:615816 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge... |
ORPHA:261529 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus,... |
ORPHA:411593 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent herpes, Cholangitis, Sepsis, Pulmonary tuberculosis, Cholecystitis, ... |
ORPHA:183675 |
Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Recurrent bacterial infections, Autoimmunity, Decreased circulating a... |
ORPHA:169079 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... |
ORPHA:319552 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis, Decreased circulating complement C8 concentration |
OMIM:613789 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Recurrent respiratory infections, Decreased circulating IgA level |
OMIM:137050 |
Müllerian Aplasia And Hyperandrogenism |
|
Thick eyebrow, Short stature, Acne, Frontal balding, Synophrys, Obesity, Primary amenorrhea, Shie... |
ORPHA:247768 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Masp2 Deficiency |
|
Complement deficiency, Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus |
OMIM:613791 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Proteinuria, Recurrent infections, Hematuria, Nephrotic... |
OMIM:608709 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl... |
OMIM:614372 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... |
OMIM:300291 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
Complement Factor H Deficiency |
|
Chronic kidney disease, Thickened glomerular basement membrane, Depletion of components of the al... |
OMIM:609814 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Recurrent skin infections, Partial absence of ... |
OMIM:301082 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula... |
ORPHA:555905 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Recurrent herpes, Skin rash, Pneumonia, Abnormal immunoglobu... |
ORPHA:276 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Autoimmune thro... |
OMIM:616100 |
Immunodeficiency 44 |
|
Severe viral infection, Decreased circulating total IgM, Abnormal circulating IgG level, Post-vac... |
OMIM:616636 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level |
OMIM:616911 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Otitis media, Decreased circulating IgG level, Recurrent bronchitis |
OMIM:312863 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Asthma, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulcerative... |
OMIM:617638 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level |
OMIM:242880 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... |
OMIM:616452 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis |
OMIM:162700 |
Schnitzler Syndrome |
|
Increased bone mineral density, Skin rash, Vasculitis, Increased circulating IgM level, Arthritis |
ORPHA:37748 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Long toe, Epicanthus, Coxa magna, Short stature, Sandal gap, Highly arched eyebrow, Long fingers,... |
ORPHA:261279 |
Igg4-Related Aortitis |
|
Increased inflammatory response, Autoimmunity, Increased circulating IgG4 level, Elevated circula... |
ORPHA:449400 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczema, Glomerulonephritis, Autoimmune thrombocytopenia, Severe infection, Increased circulating ... |
OMIM:304790 |
Heparin-Induced Thrombocytopenia |
|
Increased inflammatory response, Myocardial infarction, Pulmonary embolism, Autoimmune thrombocyt... |
ORPHA:3325 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Membranoproliferative glomerulonephritis, Proteinuria, Recurrent infections, Hematuria, Nephrotic... |
OMIM:613913 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating total IgM, Re... |
OMIM:615139 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Recurrent herpes, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroder... |
ORPHA:169160 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Thymoma |
|
Myositis, Autoimmunity, Abnormal lymphocyte proliferation, Abnormal lymphocyte physiology, Glomer... |
ORPHA:99867 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Anti-thyroid peroxidase antibody positivity, Abnormal blood ion c... |
ORPHA:37042 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specifi... |
OMIM:617241 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgG level, Recurrent sinopulmonary infections, Bronchiectasis, Ulcerative c... |
OMIM:618394 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:300510 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hypospadias, Supernumerary nipple, Absent eyelashes, Lacrimal duct atresia, 2-3... |
OMIM:106260 |
C1Q Deficiency 2 |
|
Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Elevated circulating C-react... |
OMIM:620321 |
Primary Biliary Cholangitis |
|
Orthostatic hypotension, Autoimmunity, Portal hypertension, Increased circulating IgA level, Anti... |
ORPHA:186 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumocystis jirovecii pneumonia, Pneumonia, Recurrent upper respiratory tract infections, Recurr... |
OMIM:614069 |
Immunodeficiency 50 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Decreased circulati... |
OMIM:300988 |
Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Ige Responsiveness, Atopic |
|
Asthma, Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Sepsis, Recurrent candida infections, Inflammation of the large intestine, De... |
ORPHA:436159 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased circulating total IgM, Recurrent sinusitis, Decreased specific... |
OMIM:617765 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Recurrent sinopulmonary infections, Skin rash, Recurrent fractures, Craniosynostosis,... |
OMIM:147060 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Recurrent viral infections, Lymphadenitis, ... |
ORPHA:331206 |
Immunodeficiency 14B, Autosomal Recessive |
|
Candida esophagitis, Reduced natural killer cell activity, Recurrent pneumonia, Decreased circula... |
OMIM:619281 |
Autoimmune Lymphoproliferative Syndrome |
|
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Decreased circulat... |
ORPHA:3261 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... |
OMIM:209920 |
Acute Lung Injury |
|
Respiratory distress, Shock, Increased circulating interleukin 6 concentration, Acute pancreatiti... |
ORPHA:178320 |
C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Recurrent viral... |
ORPHA:217390 |
Immunodeficiency 43 |
|
Hypoproteinemia, Recurrent respiratory infections, Decreased specific antibody response to polysa... |
OMIM:241600 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Increased cir... |
OMIM:618282 |
Immunodeficiency 109 With Lymphoproliferation |
|
Hypertriglyceridemia, Decreased lymphocyte proliferation in response to anti-CD3, Bronchiectasis,... |
OMIM:620282 |
Immunodeficiency 96 |
|
Conjunctival telangiectasia, Multicystic kidney dysplasia, Eczema, Recurrent infections, Decrease... |
OMIM:619774 |
Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... |
OMIM:612964 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Small for gestational age, Hypospadias, Vaginal neoplasm, Decrea... |
ORPHA:1916 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Recurrent respiratory infections, Glomerulonephritis, Autoimmune thrombocytopenia, Antinuclear an... |
OMIM:619375 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent skin infections, Decreased circulating antibody level, Hypocystinemia, Decreased serum ... |
OMIM:617744 |
Immunodeficiency 22 |
|
Pericarditis, Autoimmunity, Recurrent upper respiratory tract infections, Capillary leak, Decreas... |
OMIM:615758 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Sepsis, Recurrent candida infections, Hypocalcemic tetany, Chronic otitis media, Oppor... |
ORPHA:83471 |
Immunodeficiency, Common Variable, 11 |
|
Recurrent respiratory infections, Increased circulating IgE level, Inflammation of the large inte... |
OMIM:615767 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul... |
OMIM:618969 |
Zika Virus Disease |
|
Maculopapular exanthema, Ankle swelling, Skin rash, Wrist swelling, Meningitis, Increased circula... |
ORPHA:448237 |
Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... |
OMIM:615008 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Increased circulating IgA level, Peritonitis, Limitation of joint mo... |
ORPHA:343 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Epicanthus, Short stature, Synophrys, Abnormality of the elbow, Abnormal rib m... |
ORPHA:3268 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Skin rash, Elevated circulating C-reactive protein concentration, Increased circulating IgA level... |
OMIM:617099 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Recurrent infections |
OMIM:606445 |
Panniculitis-Induced Localized Lipodystrophy |
|
Antinuclear antibody positivity, Inflammatory abnormality of the skin, Vasculitis in the skin, Ab... |
ORPHA:90159 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Meningitis, Recurrent opportunistic infections, Arthritis, Conjunct... |
OMIM:601457 |
Boutonneuse Fever |
|
Renal insufficiency, Skin rash, Maculopapular exanthema, Vasculitis, Increased circulating IgG le... |
ORPHA:83313 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Immunodeficiency 12 |
|
Skin rash, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent viral infections... |
OMIM:615468 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Increased circulating inosine concentration, Autoimmune hemolytic anemia, Si... |
OMIM:613179 |
Limb-Mammary Syndrome |
|
Absent lacrimal punctum, Alopecia, Absent nipple, Chronic irritative conjunctivitis, Syndactyly, ... |
ORPHA:69085 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Vasculitis, Sepsis,... |
ORPHA:70578 |
Wiskott-Aldrich Syndrome |
|
Recurrent herpes, Abnormal delayed hypersensitivity skin test, Sepsis, Large vessel vasculitis, I... |
OMIM:301000 |
Systemic Lupus Erythematosus |
|
Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclear antibody positiv... |
OMIM:152700 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Recurrent skin infections, Asthma, Increased circulating IgE level, Recurrent pneumonia, Bronchie... |
OMIM:619752 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Recurrent bronchopulmonary infections |
OMIM:610798 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent infections, Agammaglobulinemia, Decreased circulating total IgM, D... |
OMIM:619824 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Recurrent respiratory infections, Autoimmunity, Autoimmune thrombocytopenia, Recurrent infections... |
OMIM:614470 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Arthropathy, Recurrent respiratory infections, Eczema, Craniosynostosis, Keratitis, Increased cir... |
OMIM:618523 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... |
OMIM:212050 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, Post-vaccination polio, Recurrent otitis media, Recurrent infections |
OMIM:616941 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Short stature, Abnormal rib morphology, Hypoplasia of the uterus, Azoospermia, Bicornuate uterus,... |
OMIM:601076 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... |
OMIM:307200 |
Hyper-Igd Syndrome |
|
Skin rash, Increased circulating IgA level, Lymphadenitis, Recurrent infections, Arthritis, Chron... |
OMIM:260920 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy... |
ORPHA:562639 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... |
OMIM:619201 |
Satoyoshi Syndrome |
|
Alopecia, Short metacarpal, Short stature, Brachydactyly, Short metatarsal, Osteolytic defects of... |
OMIM:600705 |
Seckel Syndrome 7 |
|
Severe short stature, Abnormal carpal morphology, Madelung deformity, Primary amenorrhea, Hypopla... |
OMIM:614851 |
Immunodeficiency 52 |
|
Persistent CMV viremia, Autoimmune thrombocytopenia, Recurrent pneumonia, Bronchiectasis, Decreas... |
OMIM:617514 |
Transcobalamin Deficiency |
|
Methylmalonic aciduria, Decreased circulating antibody level, Decreased circulating total IgM, De... |
ORPHA:859 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Antiphospholipid antibody positivity, Rheumat... |
ORPHA:90060 |
Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... |
OMIM:617609 |
Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Streak ovary, Female infertility, Elevated circulating luteinizi... |
OMIM:612310 |
Lassa Fever |
|
Shock, Dyspnea, Sepsis, Oliguria, Increased circulating IgM level, Conjunctivitis, Cough |
ORPHA:99824 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... |
OMIM:617565 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk... |
OMIM:616576 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Epicanthus, Finger syndactyly, Hypogonadotropic hypogonadism, Ab... |
ORPHA:570 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Corneal dystrophy, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Folli... |
OMIM:308800 |
Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Ele... |
OMIM:618117 |
Idiopathic Pulmonary Hemosiderosis |
|
Rheumatoid factor positive, Glomerulonephritis, Crackles, Diffuse alveolar hemorrhage, Antinuclea... |
ORPHA:99931 |
Angiostrongyliasis |
|
Stiff neck, Increased circulating IgA level, Unusual CNS infection, Increased circulating specifi... |
ORPHA:74 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, Decreased circulating antibody level |
OMIM:616873 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Short stature, Spa... |
OMIM:129500 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections |
OMIM:618987 |
Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
Igg4-Related Kidney Disease |
|
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Lymphadenitis,... |
ORPHA:449395 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Eunuchoid habitus, Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermi... |
ORPHA:432 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczema, Thyroiditis, Recurrent infections |
OMIM:618985 |
Subcorneal Pustular Dermatosis |
|
Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma... |
ORPHA:48377 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:608996 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Foll... |
OMIM:612843 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased circulating tota... |
OMIM:614878 |
Nephrotic Syndrome, Type 10 |
|
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... |
OMIM:615861 |
Immunodeficiency 85 And Autoimmunity |
|
Recurrent respiratory infections, Eczema, Oligoarthritis, Persistent EBV viremia, Decreased circu... |
OMIM:619510 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Telecanthus, Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, Sparse p... |
OMIM:110100 |
Ovarian Dysgenesis 5 |
|
Short stature, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of ... |
OMIM:617690 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Joint dislocation, Recurrent respiratory infections, Recurrent urinary tract infections, Recurren... |
OMIM:620210 |
Complement Factor B Deficiency |
|
Pneumonia, Decreased circulating complement factor B concentration, Peritonitis, Recurrent bacter... |
OMIM:615561 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:618078 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Skin rash, Pneumonia, Decreased circulating complement ... |
ORPHA:2298 |
Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis... |
ORPHA:470 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Sepsis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis... |
OMIM:614700 |
Macrophage Activation Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce... |
ORPHA:158061 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Recurrent bacterial infections |
OMIM:607624 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... |
OMIM:615300 |
Agammaglobulinemia, X-Linked |
|
Sepsis, Decreased circulating IgE, Conjunctivitis, Decreased circulating IgG level, Meningitis, I... |
OMIM:300755 |
Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Nephropathy, Nephrotic range proteinuria, Minimal change glomerulonephr... |
ORPHA:1830 |
Immunodeficiency 48 |
|
Recurrent respiratory infections, Pneumonia, Recurrent candida infections, Eczematoid dermatitis,... |
OMIM:269840 |
Catastrophic Antiphospholipid Syndrome |
|
Antiphospholipid antibody positivity, Angina pectoris, Abnormality of the kidney, Anticardiolipin... |
ORPHA:464343 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Increased circulating IgA level, Nephropathy, Elevated circulating cre... |
ORPHA:29073 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concen... |
ORPHA:36234 |
Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... |
ORPHA:75566 |
Interstitial Lung Disease 2 |
|
Dyspnea, Increased circulating antibody level, Cough, Decreased DLCO, Pulmonary arterial hyperten... |
OMIM:178500 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent bacterial infections, Eczematoid dermatitis, Seborrheic dermatitis |
OMIM:619693 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:616022 |
Hypocomplementemic Urticarial Vasculitis |
|
Joint dislocation, Uveitis, Conjunctivitis, Cough, Emphysema, Meningitis, Glomerulopathy, Restric... |
ORPHA:36412 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Absent specific antibody response, Autoimmune hemolytic anemia, Sinu... |
OMIM:102700 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:54370 |
Erythema Elevatum Diutinum |
|
Skin rash, Increased circulating antibody level, Vasculitis in the skin |
ORPHA:90000 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Proximal placement of thumb, Synophrys, Low... |
ORPHA:199 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Short stature, Elevated circulating luteinizing hor... |
OMIM:614129 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Recurrent respiratory infections, Decreased circulating IgG level |
OMIM:233650 |
Lymphoproliferative Syndrome 1 |
|
Autoimmune hemolytic anemia, Autoimmunity, Elevated circulating C-reactive protein concentration,... |
OMIM:613011 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Proteinuria, Recurrent bronchopulmonary i... |
OMIM:617303 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Psoriasiform dermatitis, Short stature, Developmental cataract, Delayed puberty, Failure to thriv... |
OMIM:616834 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absent pubic hair, Hypoplasia ... |
OMIM:614841 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Pan... |
OMIM:615214 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... |
ORPHA:567548 |
Complement Component C1S Deficiency |
|
Abnormality of complement system, Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus |
OMIM:613783 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmun... |
ORPHA:911 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Chronic oral candidiasis, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Recurrent respira... |
OMIM:606367 |
Kid Syndrome |
|
Angular cheilitis, Equinus calcaneus, Scarring alopecia of scalp, Posterior blepharitis, Patellar... |
ORPHA:477 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Symmetric polyarthritis, Rheumatoid factor positive, Elevated circulating C-reactive ... |
ORPHA:85435 |
Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie... |
OMIM:601495 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Autoimmunity, Eczema, Recurrent pneumonia, Decreased circulating antibody level, Hyperhomocystine... |
OMIM:617780 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Short stature, Abnormal rib morphology, De... |
ORPHA:2234 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Proteinuria, Pustule, Limitation of joint mobili... |
ORPHA:69126 |
Igg4-Related Retroperitoneal Fibrosis |
|
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Anti-thyroid p... |
ORPHA:49041 |
Thrombocytopenia 1 |
|
Epistaxis, Eczema, Increased circulating IgA level, Increased circulating IgE level, Joint hemorr... |
OMIM:313900 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Increased circulating IgE level, Recurrent pneumonia, Hypertension, Recurrent bronchiolitis |
OMIM:616069 |
Immunodeficiency 92 |
|
Recurrent oral herpes, Osteomyelitis, Cholangitis, Pneumonia, Persistent CMV viremia, BCGosis, Sc... |
OMIM:619652 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Autoimmunity, Elevated circulating C-reactive protein concentration, Crackles, Nonproductive coug... |
ORPHA:2902 |
Immunodeficiency 105 |
|
Skin rash, Decreased circulating antibody level, Decreased circulating total IgM, Decreased circu... |
OMIM:619924 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Spa... |
OMIM:602400 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Patchy alopecia, Neut... |
OMIM:615387 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... |
OMIM:226990 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Mosaic Trisomy 14 |
|
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Cryptorchidism, Abnormal rib morpholog... |
ORPHA:1703 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Short stature, Abnormal rib morphology, Low posterior hairline, Azoospermia, Bicornuate uterus, A... |
ORPHA:2578 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty |
OMIM:300604 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Amed Syndrome, Digenic |
|
Telecanthus, Short stature, Hypoplasia of the uterus, Long thumb, Failure to thrive |
OMIM:619151 |
Immunodeficiency 91 And Hyperinflammation |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Elevated ... |
OMIM:619644 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, Decreased circulating IgA ... |
OMIM:242860 |
X-Linked Immunoneurologic Disorder |
|
Recurrent respiratory infections, Decreased circulating IgG2 level, Functional abnormality of the... |
ORPHA:2571 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent pne... |
OMIM:614868 |
Kimura Disease |
|
Eosinophilia |
ORPHA:482 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Pneumocystis jirovecii pneumonia, Nonproducti... |
ORPHA:723 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Immunodeficiency 15B |
|
Recurrent infections, Agammaglobulinemia, Decreased circulating antibody level, Decreased lymphoc... |
OMIM:615592 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Recurrent upper r... |
OMIM:615952 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Necrotizing enterocolitis, Recurrent abscess formatio... |
OMIM:613860 |
Pemphigus Vulgaris, Familial |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:169610 |
Trichothiodystrophy 3, Photosensitive |
|
Recurrent infections, Increased circulating IgA level |
OMIM:616395 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal ... |
OMIM:609441 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Abnormal eyebrow morphology, Alopecia, Coarse metaphyseal trabeculariza... |
ORPHA:1775 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Alopecia, Entropion, Short stature, Cataract, Keratitis, Cryptorchid... |
ORPHA:910 |
Hyperprolactinemia |
|
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration |
OMIM:615555 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Recurrent respiratory infections, Recurrent infections, Abnormal immunoglobulin level |
OMIM:614102 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Proximal ... |
ORPHA:1896 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Azoo... |
OMIM:614837 |
Cinca Syndrome |
|
Papilledema, Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia |
OMIM:607115 |
Immunodeficiency 97 With Autoinflammation |
|
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Hypertriglyceridemia, Recurrent ... |
OMIM:619802 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Pauci-Immune Glomerulonephritis |
|
Renal interstitial immunoglobulin deposits, Tubulointerstitial nephritis, Cough, Nephrotic range ... |
ORPHA:93126 |
Immunodeficiency 37 |
|
Recurrent infections, Colitis, Infectious encephalitis, Decreased circulating antibody level |
OMIM:616098 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Micropenis, Hypospadias, Short... |
ORPHA:90796 |
Autoimmune Disease |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:109100 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Enlarged kidney, Recurrent infections |
OMIM:615285 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Limitation of movement at ankles, Severe infection, Increased circulating IgG level, Limited elbo... |
ORPHA:206594 |
Brucellosis |
|
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Knee osteoarth... |
ORPHA:1304 |
Sneddon Syndrome |
|
Antiphospholipid antibody positivity, Cerebral hemorrhage, Decreased circulating total IgM, Hyper... |
OMIM:182410 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr... |
ORPHA:85410 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Maculopapular exanthema,... |
ORPHA:540 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Flotch Syndrome |
|
Sparse eyelashes, Abnormal eyelid morphology, Abnormal eyelash morphology, Blepharitis, Inflammat... |
ORPHA:2045 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal eyelid morphology, Uveitis, Conjunctivitis, Sparse hair, Absent eyebrow, Alopecia, Abnor... |
ORPHA:2273 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Flexion contracture, Sepsis, Conjunctivitis, Hypoalbuminemia, Decreased cir... |
ORPHA:505248 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinu... |
ORPHA:79078 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Eosinophilia, Retinal dyst... |
OMIM:616651 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Recurrent respiratory infections, Hypertriglyceridemia, Acne, Recurrent skin infections, Erythema... |
OMIM:300635 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Systemic Lupus Erythematosus 17 |
|
Hypertensive crisis, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Raynaud phenom... |
OMIM:301080 |
Tularemia |
|
Respiratory distress, Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Meningi... |
ORPHA:3392 |
Prolidase Deficiency |
|
Eczema, Hyperimidodipeptiduria, Asthma, Recurrent pneumonia, Crusting erythematous dermatitis, Di... |
OMIM:170100 |
Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Increased inflammatory response, Protrusio acetabuli, Autoimmunity, Limitation of joi... |
ORPHA:2619 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Transverse vagina... |
OMIM:129900 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
Acrodermatitis Enteropathica |
|
Abnormal eyebrow morphology, Alopecia, Short stature, Abnormal eyelid morphology, Pustule, Cornea... |
ORPHA:37 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent bacterial infections, Bronchiectasis, Recurrent viral... |
OMIM:608957 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Dilated cardiomyopat... |
OMIM:616730 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of the knee, Anterior uveitis, Psoriasiform dermatitis, Generalized morning stiffness... |
ORPHA:85436 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Duplicated lacrimal punctum, Elevated circulating ... |
ORPHA:572333 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Eosinophilia, Thin eyebrow, Abnormally low T cell receptor excision circle level |
OMIM:618092 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf... |
OMIM:607676 |
Peeling Skin Syndrome 1 |
|
Eosinophilia, Brittle hair, Nail dystrophy |
OMIM:270300 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Slow-growing hair, Short stature, Meta... |
ORPHA:3082 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Increased circulating interleukin 6 concentration, Anuria, Acute tubulointe... |
ORPHA:340 |
Mu-Heavy Chain Disease |
|
Bence Jones Proteinuria, Osteoporosis, Osteolysis, Increased circulating antibody level, Nephropathy |
ORPHA:100024 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Transverse vagina... |
OMIM:604292 |
Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Epicanthus, Hypospadias, Severe short stature, Cachexia,... |
ORPHA:3242 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Acne, Abnormal uterine cervix morphology, Sparse axillary hair, Elevated circul... |
ORPHA:99429 |
Estrogen Resistance |
|
Acne, Primary amenorrhea, Polycystic ovaries, Hypoplasia of the uterus, Breast aplasia, Delayed p... |
OMIM:615363 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections |
ORPHA:2643 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
Poikiloderma With Neutropenia |
|
Short stature, Skin rash, Sparse eyebrow, Recurrent pneumonia, Nasolacrimal duct obstruction, Low... |
OMIM:604173 |
Systemic Lupus Erythematosus |
|
Proteinuria, Lupus nephritis, Pyuria, Antinuclear antibody positivity, Discoid lupus rash, Raynau... |
ORPHA:536 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent respiratory infections, Skin rash, Partial IgA deficiency, Pustule, Recurrent viral inf... |
ORPHA:35078 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Autoimmunity, Skin rash, Recurre... |
ORPHA:47 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Systemic Sclerosis |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Intestinal bleeding, Abn... |
ORPHA:90291 |
Coccidioidomycosis |
|
Respiratory distress, Increased circulating IgG level, Morbilliform rash, Cough, Abnormality of t... |
ORPHA:228123 |
Cherubism |
|
Macular scar, Marcus Gunn pupil, Optic neuropathy |
OMIM:118400 |
Chromosome 16Q22 Deletion Syndrome |
|
Epicanthus, Prominent metopic ridge, Small for gestational age, Hypospadias, Highly arched eyebro... |
OMIM:614541 |
Tempi Syndrome |
|
Transudative pleural effusion, Abnormality of the kidney, Telangiectasia, Intracranial hemorrhage... |
ORPHA:284227 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Severe short stature, Missing ribs, Short thorax, Abnormal rib morphology, Spina bifida occulta, ... |
ORPHA:1797 |
Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Sepsis, Decreased circulating antibody level, Conjunctivitis,... |
OMIM:616740 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Cryptorchidism, Obesity, Bell-shaped thorax, Short ... |
OMIM:615633 |
Cystic Echinococcosis |
|
Invasive parasitic infection, Unusual infection, Asthma, Renal cyst, Membranous nephropathy, Incr... |
ORPHA:400 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:301081 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Immunodeficiency 11A |
|
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased circulating antibod... |
OMIM:615206 |
Ifap Syndrome 2 |
|
Cataract, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca, Nail d... |
OMIM:619016 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Eczema, Sparse hair, Blepharitis, Sparse ... |
OMIM:618535 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... |
OMIM:612965 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Gout, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Pancreatic hypop... |
OMIM:137920 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... |
OMIM:256040 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Recurrent infections, Bone marrow ... |
OMIM:301078 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Hepatitis, Systemic lupus... |
ORPHA:444463 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Retinal dystrophy, Eosinophilia, Prominent eyelashes, Hepatosplenom... |
ORPHA:353298 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Hypospadias, Abnormal rib morphology, Upslanted palpebral fissure, ... |
ORPHA:276422 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Omenn Syndrome |
|
Hepatomegaly, Alopecia, Eosinophilia, Splenomegaly, Leukocytosis, Anemia, Abnormal lymphocyte mor... |
ORPHA:39041 |
Autoinflammatory-Pancytopenia Syndrome |
|
Arthropathy, Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chil... |
OMIM:619858 |
Complement Component 5 Deficiency |
|
Reduced hemolytic complement activity, Recurrent Neisserial infections, Generalized seborrheic de... |
OMIM:609536 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Agammaglobulinemia, Decr... |
OMIM:619705 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... |
ORPHA:983 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Rift Valley Fever |
|
Skin rash, Hematemesis, Severe viral infection, Hepatitis, Uveitis, Retinal hemorrhage, Hematuria... |
ORPHA:319251 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Joint laxity, Chronic kidney disease, Glomerulonephritis |
ORPHA:2172 |
Q Fever |
|
Respiratory distress, Rheumatoid factor positive, Abnormal left ventricular function, Cholecystit... |
ORPHA:781 |
Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Nonproductive cough, Tubulointerstitial nephritis, Decreased ... |
ORPHA:289390 |
Adult-Onset Nemaline Myopathy |
|
Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy,... |
ORPHA:171442 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... |
OMIM:273250 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Pulmonary embolism, Dyspnea, Hyperlipidemia, Chronic kidney di... |
ORPHA:567546 |
Tn Polyagglutination Syndrome |
|
Autoimmunity |
OMIM:300622 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... |
ORPHA:656 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplasia of penis, Cataract, Cryptorchidism, Abnormal rib morphology, Disproportionate short-li... |
ORPHA:2772 |
Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level, Functional abnormality of the bladder |
OMIM:300076 |
Inclusion Body Myositis |
|
Autoimmunity, Elevated circulating creatine kinase concentration |
ORPHA:611 |
Netherton Syndrome |
|
Recurrent respiratory infections, Recurrent skin infections, Allergic rhinitis, Eczema, Asthma, I... |
OMIM:256500 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Sparse scalp hair, Short stature, Decreased response to growth hormone stimulation test, Highly a... |
OMIM:615866 |
Omenn Syndrome |
|
Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, H... |
OMIM:603554 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Hypercholesterolemia, Eczema, Proteinuria, Minimal change glomerulon... |
OMIM:618348 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
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 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ... |
ORPHA:3243 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
Membranoproliferative Glomerulonephritis, X-Linked |
|
Membranoproliferative glomerulonephritis, Cardiac shunt |
OMIM:305800 |
Estrogen Resistance Syndrome |
|
Acne, Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotro... |
ORPHA:785 |
Netherton Syndrome |
|
Recurrent respiratory infections, Skin rash, Eczema, Ectopic kidney, Asthma, Increased circulatin... |
ORPHA:634 |
Olmsted Syndrome, X-Linked |
|
Posterior blepharitis, Blepharitis, Alopecia totalis |
OMIM:300918 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Male infertility, Eunuchoid habitus, Hypergonadotropic hypogonadism... |
ORPHA:91 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Clitoral hypoplasia, Cutaneous finger syndactyly, Short palm, Short stature, Elevated circulating... |
OMIM:618419 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:611926 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Chronic oral candidiasis, Recurrent urinary tract infections, Psoriasiform dermatitis... |
ORPHA:221139 |
Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas... |
OMIM:618108 |
Actinic Prurigo |
|
Cheilitis, Pyoderma, Glomerulonephritis |
OMIM:174770 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
46,Xy Sex Reversal 4 |
|
Distal symphalangism, Hypergonadotropic hypogonadism, Agonadism, Upslanted palpebral fissure, Sex... |
OMIM:154230 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Failure to thrive, Blepharitis, Erythroderma |
OMIM:614328 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial infections |
OMIM:245480 |
Lymphoid Interstitial Pneumonia |
|
Skin rash, Autoimmunity, Eczema, Crackles, Raynaud phenomenon, Dyspnea, Wheezing, Autoimmune anti... |
ORPHA:79128 |
O'Sullivan-Mcleod Syndrome |
|
Tremor, Eosinophilia |
ORPHA:99965 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Elevated circulating alpha-fetoprotein concentration, Rec... |
ORPHA:420741 |
Xq28 (MECP2) duplication |
|
Recurrent respiratory infections, Functional abnormality of the bladder, Decreased circulating Ig... |
DECIPHER:45 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Omphalocele, Finger syndactyly, Abnormal scapula morphology, Congenital diaphragmatic hernia, Apl... |
ORPHA:2141 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Cataract, Rhizomelia, Proxim... |
ORPHA:93267 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Recurrent viral infections, Asthma, Atopic dermatitis, Membranous nephropathy, Nephrotic syndrome... |
OMIM:618999 |
Cornelia De Lange Syndrome 5 |
|
Telecanthus, Toe syndactyly, Short stature, Highly arched eyebrow, Proximal placement of thumb, P... |
OMIM:300882 |
Antithrombin Iii Deficiency |
|
Arterial occlusion, Pulmonary embolism |
OMIM:613118 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Recurrent sinopulmonary infections, Autoimmune thrombocytopeni... |
OMIM:619846 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Epicanthus, Brachydactyly, Proportionate shortening of all digits, Tapered finger, Synophrys, Sma... |
ORPHA:280633 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... |
OMIM:301006 |
Meckel Syndrome 12 |
|
Rocker bottom foot, Antecubital pterygium, Hypoplasia of the uterus, Arthrogryposis multiplex con... |
OMIM:616258 |
Peripartum Cardiomyopathy |
|
Crackles, Ventricular tachycardia, Left bundle branch block, Increased circulating interferon-gam... |
ORPHA:563 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Male hypogonadism, Hypergonadotropic hypogonadism |
OMIM:307500 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s... |
ORPHA:163934 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Femoral-Facial Syndrome |
|
Inguinal hernia, Short femur, Short stature, Cryptorchidism, Long penis, Rib fusion, Abnormal rib... |
ORPHA:1988 |
Juberg-Hayward Syndrome |
|
Abnormal eyebrow morphology, Severe short stature, Hypospadias, Toe syndactyly, Highly arched eye... |
ORPHA:2319 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Recurrent respiratory infections, Decreased lymphocyte proliferation in response to anti-CD3, Par... |
OMIM:618986 |
Lymphatic Filariasis |
|
Proteinuria, Ankle swelling, Glomerulonephritis, Abnormality of the kidney, Circulating immune co... |
ORPHA:2035 |
Immunodeficiency 56 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Pneumocystis... |
OMIM:615207 |
Silver-Russell Syndrome 3 |
|
Syndactyly, Small for gestational age, Elbow contracture, Unilateral cryptorchidism, Short statur... |
OMIM:616489 |
Aspergillosis |
|
Sinusitis, Intracranial hemorrhage, Cough, Meningitis, Infectious encephalitis, Abnormality of th... |
ORPHA:1163 |
Idiopathic Bronchiectasis |
|
Myocardial infarction, Crackles, Productive cough, Dyspnea, Wheezing, Emphysema, Bronchiectasis, ... |
ORPHA:60033 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... |
OMIM:618213 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Three M Syndrome 1 |
|
Joint dislocation, Scapular winging, Small for gestational age, Hypospadias, Short stature, Pectu... |
OMIM:273750 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Renal hypoplasia,... |
OMIM:614376 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Pulmonary embolism, Recurrent infections, Decreased circulating antibody level, Hypoalbuminemia, ... |
OMIM:226300 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Abnormality of the elbow, Increased circulating IgE level, Abnormality of the wrist |
ORPHA:89843 |
Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Cholangitis, Increased circulating IgG4 level, Autoimmunity, Abnormality of ... |
ORPHA:449432 |
Lichen Planus Pemphigoides |
|
Conjunctivitis, Blepharitis |
ORPHA:254478 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Felty Syndrome |
|
Episcleritis, Recurrent respiratory infections, Pericarditis, Sinusitis, Recurrent urinary tract ... |
ORPHA:47612 |
Encephalitis Lethargica |
|
Stiff neck, Urinary incontinence, Autoimmunity, Recurrent viral infections, Increased circulating... |
ORPHA:83600 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology, Short stature |
ORPHA:2435 |
Yellow Fever |
|
Shock, Increased circulating interleukin 6 concentration, Acute pancreatitis, Skin rash, Elevated... |
ORPHA:99829 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia |
OMIM:253600 |
Igg4-Related Thyroid Disease |
|
Autoimmunity, Increased circulating IgG4 level, Anti-thyroid peroxidase antibody positivity, Thyr... |
ORPHA:64744 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Tachycardia, ... |
ORPHA:542323 |
Rasmussen Subacute Encephalitis |
|
Antinuclear antibody positivity, Decreased circulating total IgA, Autoimmunity, Anti-dsDNA antibo... |
ORPHA:1929 |
Partial Androgen Insensitivity Syndrome |
|
Male infertility, Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated ... |
ORPHA:90797 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Proteinuria, Nephrotic syndrome, Mucopolysacchariduria, Generalized bone demineralization, Decrea... |
OMIM:215250 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Proteinuria, Atrial fibrillation, Cardiac ... |
ORPHA:439232 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, Chronic sinusitis, Recurrent bronchitis, Otitis media |
OMIM:300455 |
Caffey Disease |
|
Increased circulating antibody level, Respiratory insufficiency |
ORPHA:1310 |
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 |
|
Alopecia, Cataract, Sparse eyelashes, Hypospadias, Short stature, Phimosis, Cryptorchidism, Prema... |
OMIM:305000 |
Preeclampsia |
|
Helicobacter pylori infection, Proteinuria, Autoimmunity, Abnormality of the kidney, Chronic kidn... |
ORPHA:275555 |
Becker Nevus Syndrome |
|
Lipoatrophy, Supernumerary nipple, Pectus excavatum, Hypoplastic labia minora, Abnormal tibia mor... |
ORPHA:64755 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Autoimmunity, Right ventricular failure, Reduced circulating tr... |
ORPHA:90363 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Joint stiffness, Congestive heart failure, Osteoarthritis, Hypertension, Hype... |
ORPHA:1345 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Lymphopenia, Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, ... |
OMIM:602450 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Autoimmunity, Reduced forced expiratory volume in one second, Reduced forced vital cap... |
ORPHA:1303 |
Immunodeficiency 84 |
|
Perianal abscess, Recurrent bacterial infections, Persistent EBV viremia |
OMIM:619437 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Ankyloblepharon, Hypoplas... |
OMIM:119500 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Au... |
ORPHA:229717 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Absent vas deferens, Hypospadias, Aplasia/Hypoplasia of the pancreas, Papillary cystadenoma of th... |
ORPHA:93111 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Autoimmunity, Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, ... |
ORPHA:169090 |
Axial Spondylometaphyseal Dysplasia |
|
Thoracic scoliosis, Mild postnatal growth retardation, Proximal femoral metaphyseal irregularity,... |
ORPHA:168549 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Thin ribs, Blind vagina, Micropenis, Penile... |
ORPHA:456328 |
Alopecia Areata 1 |
|
Autoimmunity |
OMIM:104000 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Proteinuria, Autoimmunity, Decreased circulating complement C3 concentration, Mic... |
ORPHA:79087 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Recurrent systemic pyogenic infections, Renal insufficiency, Autoimmunity, Spider hem... |
ORPHA:171 |
Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Hypertriglyceridemia, Flexion contracture, Recurrent infections, ... |
OMIM:617591 |
Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Stiff neck, Elevated circulating creatine kinase concentration, Abnormal lef... |
ORPHA:99827 |
Filippi Syndrome |
|
Ambiguous genitalia, Postnatal growth retardation, Cryptorchidism, 2-4 toe syndactyly, Cutaneous ... |
OMIM:272440 |
Thrombophilia Due To Thrombomodulin Defect |
|
Pulmonary embolism |
OMIM:614486 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Prominent fingertip pads, Small for gestational age, Short stature, Postnatal growth retardation,... |
ORPHA:231137 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... |
ORPHA:2968 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Bilateral cryptorchidism, Absent pubic hair, Blind vagina, Ambiguous genitalia, ma... |
ORPHA:90793 |
Thrombophilia, X-Linked, Due To Factor Viii Defect |
|
Pulmonary embolism |
OMIM:301071 |
Overlap Myositis |
|
Subluxation of the small joints of the hand, Autoimmunity, Elevated circulating creatine kinase c... |
ORPHA:206572 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Recurrent respiratory infections, Autoimmunity, Portal hypertension, Reduced forced expiratory vo... |
OMIM:613385 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Joint laxity, Hypospadias, Glomerulonephritis, Proteinuria, Hip dislocation, Nephrotic syndrome, ... |
OMIM:619428 |
Primary Intestinal Lymphangiectasia |
|
Cryptococcal meningitis, Decreased circulating antibody level, Decreased circulating total IgM, H... |
ORPHA:90362 |
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant |
|
Pulmonary embolism |
OMIM:176860 |
Epilepsy-Telangiectasia Syndrome |
|
Conjunctival telangiectasia, Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Renal Agenesis |
|
Absent vas deferens, Aplasia/hypoplasia of the uterus |
ORPHA:411709 |
15Q24 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Proximal ... |
ORPHA:94065 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Inguinal hernia, Hypospadias, Camptodactyly of... |
ORPHA:2311 |
Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finge... |
ORPHA:628 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Retinal detachment, Alopecia, Eosinophilia, Supernumerary nipple, Retina... |
OMIM:308300 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hypoplasia of penis, Hypogonadotropic hypogonadism, Short stature, Abnormal rib morphology, Pectu... |
ORPHA:3068 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... |
OMIM:156530 |
Japanese Encephalitis |
|
Hyponatremia, Respiratory distress, Stiff neck, Genu recurvatum, Meningitis, Elbow flexion contra... |
ORPHA:79139 |
Hydatidiform Mole |
|
Menometrorrhagia, Enlarged uterus |
ORPHA:99927 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Bifid scrotum, Cutaneous finger syndactyly, Clinodactyly of the 5th finger, Sparse hair, Hypospad... |
OMIM:613026 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Recurrent upper r... |
ORPHA:51636 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Autoimmunity, Vasculitis, Respiratory insuffici... |
ORPHA:375 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Recurrent fractur... |
ORPHA:2314 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small for gestational age, Short stature, Postnatal growth retardation, Low anterior hairline, Lo... |
ORPHA:73272 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Trisomy 13 |
|
Cataract, Abnormal eyelash morphology, Cryptorchidism, Postaxial hand polydactyly, Abnormal rib m... |
ORPHA:3378 |
3M Syndrome |
|
Congenital hip dislocation, Hypoplastic ischia, Enlarged thorax, Clinodactyly of the 5th finger, ... |
ORPHA:2616 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Dyspnea, Sepsis, Hepati... |
ORPHA:319218 |
Tick-Borne Encephalitis |
|
Stiff neck, Elevated circulating C-reactive protein concentration, Meningitis, Unusual CNS infect... |
ORPHA:297 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Acne, Primary amenorrhea, Aplasia of the vagina, Aplasia of the fall... |
OMIM:158330 |
Cocaine Intoxication |
|
Respiratory distress, Prolonged QRS complex, Elevated circulating creatine kinase concentration, ... |
ORPHA:90068 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Pectus excavatum, Cryptorchidism, Abnormal rib morphology, Decreased ... |
ORPHA:2970 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Syndactyly, Inguinal hernia, Small for gestational age, Dysmenorrhea, Hypospadias,... |
ORPHA:397590 |
Sea-Blue Histiocytosis |
|
Blepharitis |
ORPHA:158029 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... |
OMIM:615978 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Increased circulating antibody level, Hypoalbuminemia, ... |
ORPHA:86816 |
Wiedemann-Steiner Syndrome |
|
Elbow hypertrichosis, Synophrys, Clinodactyly of the 5th finger, Short phalanx of finger, General... |
OMIM:605130 |
Immunodeficiency 58 |
|
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi... |
OMIM:618131 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Respiratory distress, Respiratory failure requiring a... |
ORPHA:264675 |
Immunodeficiency 17 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Chronic decreased cirulati... |
OMIM:615607 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea |
OMIM:277000 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl... |
OMIM:210720 |
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency |
|
Pulmonary embolism |
ORPHA:82 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Neonatal hypoproteinemia |
OMIM:152800 |
Inflammatory Pseudotumor Of The Liver |
|
Increased hepatitis B virus antibody level, Autoimmune antibody positivity, Elevated circulating ... |
ORPHA:90003 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Hypoplasia of penis, Small scrotum, Multiple pterygia, Abnormal eyelid morphology, Symphalangism ... |
ORPHA:2990 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Flexion contracture, Pectus carinatum... |
OMIM:224690 |
Thrombophilia Due To Thrombin Defect |
|
Pulmonary embolism |
OMIM:188050 |
Bloom Syndrome |
|
Recurrent herpes, Severe varicella zoster infection, Uveitis, Otitis media, Decreased circulating... |
ORPHA:125 |
Scarf Syndrome |
|
Bifid scrotum, Epicanthus, Inguinal hernia, Craniosynostosis, Cryptorchidism, Low posterior hairl... |
ORPHA:3134 |
Vici Syndrome |
|
Decreased circulating IgG level, Recurrent respiratory infections, Joint stiffness, Ureteral atre... |
ORPHA:1493 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Increased circulating IgG4 level, Elevated circulating C-reactive protein concentratio... |
ORPHA:449427 |
Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune th... |
ORPHA:227990 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary embolism, Abnorma... |
ORPHA:70591 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Eosinophilia, Anemia |
ORPHA:2070 |
Antisynthetase Syndrome |
|
Joint dislocation, Recurrent respiratory infections, Myositis, Aortic regurgitation, Skin rash, A... |
ORPHA:81 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Ulnar-Mammary Syndrome |
|
Abnormal clavicle morphology, Hypoplasia of penis, Abnormal finger morphology, Pectus carinatum, ... |
ORPHA:3138 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Alopecia, Congenital hip dislocation, Corneal opacity, Congenital diaphragmati... |
ORPHA:1647 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233710 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Eczema, Abnormality of the menstrual cycle, Keratitis, Arthritis, Inflammation of the ... |
ORPHA:906 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Renal insufficiency, Epistaxis, Congestive heart failure, Vasculitis... |
ORPHA:33226 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Recurrent herpes, Functional abnormality of the bladder, Infectious encephalitis, Aut... |
ORPHA:391487 |
Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Pericarditis, Abnormality of the kidney, Antinuclear antibody positivity, Systemic lupus erythema... |
OMIM:609939 |
Essential Fructosuria |
|
Abnormal erythrocyte enzyme level, Hyperglycemia |
ORPHA:2056 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili... |
OMIM:615508 |
Hereditary Xanthinuria |
|
Arthropathy, Crystalluria, Recurrent urinary tract infections, Hypouricemia, Xanthine nephrolithi... |
ORPHA:3467 |
Candidiasis, Familial, 8 |
|
Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis |
OMIM:615527 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone sti... |
ORPHA:3464 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Hyperglycemia, Retinal thinning |
OMIM:618970 |
Pediatric Systemic Lupus Erythematosus |
|
Myositis, Decreased circulating complement C4 concentration, Lupus anticoagulant, Nephritis, Rayn... |
ORPHA:93552 |
Febrile Infection-Related Epilepsy Syndrome |
|
Sinusitis, Autoimmunity, Cough |
ORPHA:163703 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233690 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Hypospadias, Short stature, Congenital diaphragmatic hernia, Ovotestis, Sclerocornea, H... |
OMIM:309801 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Hypospadias, Short stature, Pectus excavatum, Abnormal rib morpholo... |
ORPHA:2522 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Proteinuria, Recurrent bacterial infections, Aminoaciduria, Decreased plate... |
OMIM:603585 |
Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune th... |
ORPHA:227982 |
Scarf Syndrome |
|
Barrel-shaped chest, Bifid scrotum, Epicanthus, Inguinal hernia, Cryptorchidism, Low anterior hai... |
OMIM:312830 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Hypospadias, Recurrent pneumonia, Recurrent upper respiratory tract infecti... |
OMIM:607143 |
Mucous Membrane Pemphigoid |
|
Autoimmunity |
ORPHA:46486 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Calcium nephrolithiasis, Increased bone mineral density, Ventricular arrhy... |
ORPHA:36913 |
Rheumatoid Arthritis |
|
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Joint stiffnes... |
OMIM:180300 |
Immunodeficiency 47 |
|
Tricuspid regurgitation, Decreased circulating total IgG, Decreased circulating copper concentrat... |
OMIM:300972 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Bifid scrotum, Finger syndactyly, Small scrotum, Toe syndactyly, Cryptorchidism, Split hand, Abno... |
ORPHA:1300 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... |
ORPHA:99103 |
Myhre Syndrome |
|
External genital hypoplasia, Epispadias, Short palm, Large iliac wing, Abnormal penis morphology,... |
ORPHA:2588 |
Microphthalmia With Limb Anomalies |
|
2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly,... |
OMIM:206920 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Severe postnatal growth retardation, Apla... |
OMIM:266810 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:90045 |
Alg12-Cdg |
|
Hyponatremia, Recurrent respiratory infections, Ulnar deviation of the wrist, Hypospadias, Partia... |
ORPHA:79324 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Pectus carinatum, Femoral bowing, Anteriorly displaced genitalia, Foot oligodactyl... |
OMIM:276820 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Short stature, Postaxial hand polydactyly, Short th... |
ORPHA:474 |
Linear Iga Dermatosis |
|
Renal neoplasm, Inflammation of the large intestine, Autoimmunity, Epistaxis |
ORPHA:46488 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Eosinophilia, Cor pulmonale, Coarse hair, Nail dystrophy, Sparse hair |
OMIM:158310 |
Goodpasture Syndrome |
|
Anti-glomerular basement membrane-antibody positivity, Renal insufficiency, Proteinuria, Glomerul... |
OMIM:233450 |
Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Colitis, Hypoalbuminemia, Recurrent absces... |
OMIM:619381 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Autoimmune hemolytic anemia, Hypertriglyceridemia,... |
OMIM:619573 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Epicanthus, Supernumerary nipple, Cryptorchidism, Postaxial hand polydactyly, Abnormal rib morpho... |
ORPHA:2519 |
Seckel Syndrome 1 |
|
11 pairs of ribs, Ivory epiphyses, Hypospadias, Abnormal finger flexion crease, Proportionate sho... |
OMIM:210600 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Prolonged QT interval, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elevat... |
OMIM:613327 |
Leishmaniasis |
|
Rhinitis, Increased circulating antibody level, Hypoalbuminemia |
ORPHA:507 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Renal insufficiency, Proteinuria, Transient ischemic attack, Abnormal immunoglobulin ... |
OMIM:242900 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmun... |
OMIM:243150 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Elevated circulating C-reactive protein concentration, Rheu... |
ORPHA:79099 |
3Mc Syndrome |
|
Telecanthus, Supernumerary nipple, Highly arched eyebrow, Bilateral cryptorchidism, Postnatal gro... |
ORPHA:293843 |
Cat-Eye Syndrome |
|
Short stature, Abnormal rib morphology, Hip dysplasia, Intrauterine growth retardation, Downslant... |
ORPHA:195 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Intrauterine growth retardation, Short stature, Vaginal atresia |
OMIM:617914 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Elevated circulating C-reactive protein ... |
ORPHA:85414 |
Warburg Micro Syndrome 3 |
|
Small scrotum, Cataract, Postnatal growth retardation, Hypoplastic labia minora, Flexion contract... |
OMIM:614222 |
Osteopetrosis, Autosomal Recessive 7 |
|
Recurrent pneumonia, Decreased circulating total IgM, Osteopetrosis, Decreased circulating IgG le... |
OMIM:612301 |
Scedosporiosis |
|
Sinusitis, Sepsis, Pulmonary tuberculosis, Cough, Unusual skin infection, Fungal meningitis, Oppo... |
ORPHA:449280 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Flexion contracture, Knee flexion c... |
OMIM:265000 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Gastrointestinal inflammation, Enlarged thorax, Inflammation of the large intestine, Hashimoto th... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Gastrointestinal inflammation, Enlarged thorax, Inflammation of the large intestine, Hashimoto th... |
ORPHA:99228 |
Monosomy X |
|
Gastrointestinal inflammation, Enlarged thorax, Inflammation of the large intestine, Hashimoto th... |
ORPHA:99226 |
Turner Syndrome |
|
Gastrointestinal inflammation, Enlarged thorax, Inflammation of the large intestine, Hashimoto th... |
ORPHA:881 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Short stature, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Tri... |
OMIM:617405 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Short stature, Ambiguous genitalia, female, Long ... |
OMIM:202010 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Decreased response to growth hormone st... |
OMIM:614732 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating C-reactive protein concentration, Renal interstitial edema, Sterile pyuria, ... |
ORPHA:91500 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Recurrent fractures, Cranio... |
ORPHA:251004 |
Microphthalmia, Syndromic 9 |
|
Inguinal hernia, Severe short stature, Short stature, Congenital diaphragmatic hernia, Cryptorchi... |
OMIM:601186 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Skin rash, Autoimmunity, System... |
ORPHA:90036 |
Diabetes And Deafness, Maternally Inherited |
|
Cardiomyopathy, Pigmentary retinopathy, Type II diabetes mellitus, Hyperglycemia, Retinal degener... |
OMIM:520000 |
Specific Granule Deficiency 2 |
|
Osteopenia, Recurrent pneumonia, Sepsis, Recurrent bacterial infections, Recurrent otitis media |
OMIM:617475 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
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Aortic regurgitation, Aortic valve stenosis, Increased circulating antibody level |
OMIM:114065 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
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Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Cryptorchidism, Fibular hypopla... |
OMIM:612447 |
46,Xy Partial Gonadal Dysgenesis |
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Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Camptodactyly of finger, Recurrent fractures, Increased circulating IgE leve... |
ORPHA:3409 |
Hyperproinsulinemia |
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Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Dyskeratosis Congenita, Digenic |
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Decreased circulating total IgM, Decreased circulating IgG level, Recurrent infections, Decreased... |
OMIM:620040 |
Factor V Excess With Spontaneous Thrombosis |
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Pulmonary embolism |
OMIM:134400 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
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Asthma, Eczema, Bone marrow hypocellularity, Systemic lupus erythematosus |
OMIM:616871 |
Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Failure to thrive in infancy, Hypospadias, Cachexia, Shor... |
ORPHA:813 |
Hypotrichosis Simplex Of The Scalp |
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Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis |
ORPHA:90368 |
Leukocyte Adhesion Deficiency, Type I |
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Recurrent gram-negative bacterial infections, Osteomyelitis, Elevated circulating C-reactive prot... |
OMIM:116920 |
Pulmonary Alveolar Proteinosis, Acquired |
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Recurrent respiratory infections, Brain abscess, Pneumonia, Anti-granulocyte-macrophage colony st... |
OMIM:610910 |
Gaucher Disease Type 1 |
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Osteopenia, Increased bone mineral density, Proteinuria, Osteoarthritis, Osteolysis, Hematuria, P... |
ORPHA:77259 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
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Short metacarpal, Osteoarthritis, Abnormal joint morphology, Short metatarsal, Abnormal rib morph... |
ORPHA:93351 |
Peters-Plus Syndrome |
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Hypoplasia of the vagina, Bilobate gallbladder, Proximal placement of thumb, Limited elbow moveme... |
OMIM:261540 |
Acute Generalized Exanthematous Pustulosis |
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Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia |
ORPHA:293173 |
Cystic Fibrosis |
|
Sinusitis, Absent vas deferens, Bronchiectasis, Failure to thrive, Decreased body mass index |
ORPHA:586 |
Bloom Syndrome |
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Elevated hemoglobin A1c, Recurrent upper respiratory tract infections, Bronchiectasis, Malar rash... |
OMIM:210900 |
Trisomy 18 |
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Congenital diaphragmatic hernia, Microcornea, Hernia, Iris coloboma, Short stature, Spina bifida,... |
ORPHA:3380 |
Polymyositis |
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Gastrointestinal hemorrhage, Pericarditis, Elevated circulating creatine kinase concentration, Au... |
ORPHA:732 |
Atrial Septal Defect, Coronary Sinus Type |
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Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... |
ORPHA:99104 |
Woodhouse-Sakati Syndrome |
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Alopecia, Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypog... |
OMIM:241080 |
Al Amyloidosis |
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Gastrointestinal hemorrhage, Abnormal EKG, Renal insufficiency, Increased circulating NT-proBNP c... |
ORPHA:85443 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:306400 |
Acro-Renal-Mandibular Syndrome |
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Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Co... |
ORPHA:958 |
Leukonychia Totalis |
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Abnormal eyelash morphology, Adenoma sebaceum, Blepharitis |
ORPHA:2387 |
Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Abnormality of the knee, Short stature, Congenital diaphragmatic hernia, Missing rib... |
ORPHA:1834 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
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Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Deformed humerus, Abnormalit... |
ORPHA:2975 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
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Hyponatremia, Psoriasiform dermatitis, Autoimmune thrombocytopenia, Recurrent viral infections, R... |
ORPHA:293978 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... |
OMIM:619938 |
Vici Syndrome |
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Decreased circulating IgG level, Recurrent respiratory infections, Elevated circulating creatine ... |
OMIM:242840 |
Warburg Micro Syndrome 2 |
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Small scrotum, Overlapping toe, Cataract, Postnatal growth retardation, Cryptorchidism, Flexion c... |
OMIM:614225 |
Ataxia-Telangiectasia |
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Decreased circulating IgG level, Conjunctival telangiectasia, Sinusitis, Recurrent bronchitis, El... |
OMIM:208900 |
Craniodiaphyseal Dysplasia |
|
Diaphyseal thickening, Abnormal rib morphology, Short stature |
ORPHA:1513 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Increased circulating IgG4 level, Elevated circulating C-reactive protein... |
ORPHA:449563 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections, Eczema |
OMIM:300299 |
Cardiomyopathy, Familial Hypertrophic, 15 |
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Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Left ventricular outfl... |
OMIM:613255 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
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Myocarditis, Eosinophilia, Lymphocytosis |
ORPHA:139402 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Multiple rib fractures, Telecanthus, Short femur, Small for gestational age, Hypospadias, Fractur... |
OMIM:616897 |
Ciliary Dyskinesia, Primary, 37 |
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Chronic rhinitis, Bronchiectasis, Female infertility, Goiter |
OMIM:617577 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
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Omphalocele, Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Lateral clavicle hook, Hypop... |
OMIM:617895 |
Immunodeficiency 10 |
|
Recurrent bacterial infections, Autoimmune hemolytic anemia, Recurrent infections |
OMIM:612783 |
Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Autoimmunity, ... |
ORPHA:727 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Hypoventilation, Recurrent fractures, Decreased circulating IgA level, Decreased circulating anti... |
OMIM:606056 |
Intrahepatic Cholestasis Of Pregnancy |
|
Neonatal respiratory distress, Skin rash, Autoimmunity, Abnormal circulating interleukin concentr... |
ORPHA:69665 |
Acquired Ichthyosis |
|
Renal insufficiency, Recurrent skin infections, Autoimmunity |
ORPHA:454 |
Hepatoerythropoietic Porphyria |
|
Recurrent bacterial skin infections, Scarring, Scarring alopecia of scalp, Loss of eyelashes, Ker... |
ORPHA:95159 |
Transcobalamin Ii Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG level, Methylmalonic aciduria, Decreas... |
OMIM:275350 |
Spondyloenchondrodysplasia |
|
Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Ant... |
ORPHA:1855 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent skin infections, Epistaxis, Sepsis, Recurrent bacterial infections, Osteopetrosis |
OMIM:612840 |
Trisomy 1Q |
|
Omphalocele, Small scrotum, Arachnodactyly, Camptodactyly of finger, Congenital diaphragmatic her... |
ORPHA:261344 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
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Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... |
OMIM:300845 |
New-Onset Refractory Status Epilepticus |
|
Abnormal circulating interleukin concentration, Infectious encephalitis, Autoimmunity |
ORPHA:363558 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Abnormal pericardium morphology, Eosinophilia, Myocarditis, Endocarditis, Hypertrophic cardiomyop... |
ORPHA:183 |
Vacterl/Vater Association |
|
Omphalocele, Bifid scrotum, Hypoplasia of penis, Finger syndactyly, Hypospadias, Occipital enceph... |
ORPHA:887 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Skin rash, Recurrent pneumonia, Inflammation of the large intestine, Colonic eosinophilia, Cellul... |
OMIM:617718 |
Myotubular Myopathy With Abnormal Genital Development |
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Bifid scrotum, Unilateral cryptorchidism, Hypospadias, Bilateral cryptorchidism, Glandular hyposp... |
OMIM:300219 |
Heart Defects-Limb Shortening Syndrome |
|
Mesomelic/rhizomelic limb shortening, Disproportionate short stature, Abnormal rib morphology, Na... |
ORPHA:1354 |
Bullous Pemphigoid |
|
Psoriasiform dermatitis, Autoimmunity, Eczema, Recurrent infections |
ORPHA:703 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, An... |
OMIM:194072 |
Spastic Paraplegia Type 2 |
|
Recurrent respiratory infections, Limitation of joint mobility, Spastic/hyperactive bladder, Pulm... |
ORPHA:99015 |
Alagille Syndrome |
|
Keratoconus, Hypoplasia of the ulna, Corneal dystrophy, Cryptorchidism, Abnormal pupil morphology... |
ORPHA:52 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Pneumonia, Decreased lymphocyte proliferation in response to anti-CD3, Meningitis, Recurrent uppe... |
OMIM:600802 |
Thrombocytopenia-Absent Radius Syndrome |
|
Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th fing... |
OMIM:274000 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
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Failure to thrive, Premature ovarian insufficiency, Short stature, Female infertility |
OMIM:619518 |
Kallmann Syndrome |
|
Dyspareunia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Cryptorchidism, Breast hypoplasi... |
ORPHA:478 |
Metatropic Dysplasia |
|
Severe short stature, Cataract, Camptodactyly of finger, Abnormal rib morphology, Long thorax, Ha... |
ORPHA:2635 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... |
OMIM:146255 |
Myotonic Dystrophy 2 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio... |
OMIM:602668 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Chronic lung disease, Acute respiratory distress syndrome, Craniosynostosis, Portal hypertension,... |
OMIM:620005 |
Glycogen Storage Disease Ib |
|
Proteinuria, Hyperlipidemia, Osteoporosis, Nephrolithiasis, Gout, Recurrent bacterial infections,... |
OMIM:232220 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar h... |
OMIM:609945 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Adrenal hyperplasia, Flexion contracture, Femoral bowing, Abnormal ovarian mo... |
ORPHA:95699 |
Septopreoptic Holoprosencephaly |
|
Precocious puberty, Anterior hypopituitarism, Abnormal rib morphology, Ethmoidal encephalocele |
ORPHA:280195 |
Ellis-Van Creveld Syndrome |
|
Hypospadias, Hypoplastic iliac wing, Cryptorchidism, Epispadias, Capitate-hamate fusion, Postaxia... |
OMIM:225500 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Inguinal hernia, Block vertebrae, Missing ribs, Absent external genitalia, Rib ... |
OMIM:271520 |
Tetraamelia-Multiple Malformations Syndrome |
|
Cataract, Missing ribs, Cryptorchidism, Abnormal rib morphology, Microcornea, Aplasia/Hypoplasia ... |
ORPHA:3301 |
Limited Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Foot joint contracture, Autoimmunity, Pulmonary arterial hypertension... |
ORPHA:220402 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Long toe, Epicanthus, Small for gestational age, Short stature, Postnatal growth retardation, Lon... |
OMIM:613355 |
Peters Plus Syndrome |
|
Microcornea, Clitoral hypoplasia, Clinodactyly of the 5th finger, Spina bifida occulta, Iris colo... |
ORPHA:709 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Ambiguous genitalia, female, Abnormal ovarian physiology, Hypogonadotropic hy... |
ORPHA:90794 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Macrocytic anemia, Hypoglycemia, Eosinophilia, Type I diabetes mellitus |
ORPHA:199299 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Intercostal retractions, Crackles, Right ventricu... |
ORPHA:1329 |
Tropical Endomyocardial Fibrosis |
|
Increased circulating interleukin 6 concentration, Prolonged QRS complex, Restrictive cardiomyopa... |
ORPHA:75565 |
Secondary Non-Traumatic Avascular Necrosis |
|
Limitation of joint mobility, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus |
ORPHA:399180 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Renal artery aneurysm, Skin rash, Eczema, Elevated circulating C-reactive protein concentration, ... |
OMIM:615688 |
Diabetes Mellitus, Ketosis-Prone |
|
Autoimmunity |
OMIM:612227 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,X... |
ORPHA:168558 |
Floating-Harbor Syndrome |
|
Short middle phalanx of the 2nd finger, Glandular hypospadias, Clinodactyly of the 5th finger, Sh... |
OMIM:136140 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Autoimmunity, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Adult-Onset Still Disease |
|
Pericarditis, Skin rash, Elevated circulating C-reactive protein concentration, Myocarditis, Recu... |
ORPHA:829 |
Acrorenal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Narrow chest, Hypoplasia of the ulna, Split hand, Bicornuate ute... |
OMIM:200980 |
Fixed Subaortic Stenosis |
|
Aortic regurgitation, Orthopnea, Paroxysmal atrial fibrillation, Angina pectoris, Dyspnea, Conges... |
ORPHA:3092 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Elevated circulating C-reactive protein concentration, Otitis media, Cough, Chronic ot... |
ORPHA:900 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,X... |
ORPHA:289548 |
Pulmonary Arteriovenous Malformation |
|
Brain abscess, Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea, Heart murmur... |
ORPHA:2038 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac crest serrat... |
ORPHA:239 |
Juvenile Xanthogranuloma |
|
Iritis, Blepharitis, Uveitis, Asymmetry of iris pigmentation |
ORPHA:158000 |
Wolf-Hirschhorn Syndrome |
|
Iris coloboma, Vertebral fusion, Hypospadias, Short stature, Highly arched eyebrow, Short hallux,... |
OMIM:194190 |
Ear-Patella-Short Stature Syndrome |
|
Hypoplasia of penis, Epispadias, Clitoral hypoplasia, Clinodactyly of the 5th finger, Hypospadias... |
ORPHA:2554 |
Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Autoimmunity, Recurrent infections |
ORPHA:704 |
Incontinentia Pigmenti |
|
Retinal detachment, Alopecia, Abnormal chorioretinal morphology, Eosinophilia, Supernumerary nipp... |
ORPHA:464 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Elevated hemoglobin A1c |
OMIM:618858 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Pectus exca... |
OMIM:263750 |
Waardenburg Syndrome, Type 1 |
|
Telecanthus, White eyelashes, White eyebrow, Spina bifida, Synophrys, Myelomeningocele, Blue irid... |
OMIM:193500 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Radial bowing, Bowing of the long bones, Aplasia of the ulna, Cryptorchidism... |
ORPHA:2879 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Autoimmunity, Gastritis, Joint st... |
ORPHA:809 |
Kbg Syndrome |
|
Epispadias, Synophrys, Low anterior hairline, Thoracic kyphosis, Short palm, Clinodactyly of the ... |
OMIM:148050 |
Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Short stature, Abnormal rib morphology, Abnormal pel... |
ORPHA:2097 |
Takayasu Arteritis |
|
Increased inflammatory response, Myocardial infarction, Vasculitis, Arthritis, Hypertension, Cere... |
ORPHA:3287 |
Pagod Syndrome |
|
Omphalocele, Abnormal clavicle morphology, Encephalocele, Short stature, Congenital diaphragmatic... |
ORPHA:991 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Pericarditis, Proteinuria, Flexion contracture, Renal cyst, Nephrotic syndrome, Cardi... |
OMIM:212065 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Small scrotum, Femoral bowing, Micropenis, Hypospadias, Arachn... |
OMIM:201750 |
Progeroid Short Stature With Pigmented Nevi |
|
Thoracic scoliosis, Premature ovarian insufficiency, Small for gestational age, Lack of facial su... |
OMIM:176690 |
Congenital Erythropoietic Porphyria |
|
Recurrent bacterial skin infections, Scarring, Increased connective tissue, Scarring alopecia of ... |
ORPHA:79277 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit... |
OMIM:137940 |
Mesomelic Dysplasia, Kantaputra Type |
|
Short stature, Tarsal synostosis, Camptodactyly of finger, Abnormality of the humerus, Abnormal r... |
ORPHA:1836 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Asthma, Hypospadias, Decreased circulating IgA level |
ORPHA:457485 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Elevated circulating creatine kinase concentration, Lymphadenitis, Congestive heart failu... |
OMIM:615895 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Inguinal hernia, Small scrotum, Severe short stature, Camptodactyly of finger,... |
ORPHA:2215 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated urinary 4-hydroxybutyric acid, Neonatal respiratory distress, Lacticaciduria, Hyperproli... |
OMIM:619003 |
Otopalatodigital Syndrome Type 2 |
|
Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and fusion, Synos... |
ORPHA:90652 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Autoimmunity, Cholangitis, Portal hypertension, Anti-thyroid peroxidase antibody positivity, Hepa... |
ORPHA:228426 |
Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell activity, Impaired ADP-induced platelet aggregation, Recurrent pneumo... |
OMIM:608233 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia |
OMIM:617425 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Patellar aplasia, Antecubital pterygium, Pa... |
OMIM:161200 |
Schwartz-Jampel Syndrome |
|
Low anterior hairline, Coxa vara, Pectus carinatum, Microcornea, Wrist flexion contracture, Gener... |
ORPHA:800 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Telecanthus, Inguinal hernia, Short stature, Short metac... |
OMIM:303600 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Hypouricemia, Autoimmunity, Autoim... |
ORPHA:760 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology |
ORPHA:1164 |
Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Telangiectasia of the skin, Autoimmunity, Dyspnea, Congestive heart failure,... |
ORPHA:220393 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... |
OMIM:262190 |
Extracranial Carotid Artery Aneurysm |
|
Autoimmunity, Subarachnoid hemorrhage, Severe infection, Vasculitis, Hypertension, Cerebral ische... |
ORPHA:494424 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Apnea, Decreased circulating antibody level, Decreased cir... |
ORPHA:79330 |
Isolated Osteopoikilosis |
|
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Autoimmuni... |
ORPHA:166119 |
Cornelia De Lange Syndrome 1 |
|
Congenital diaphragmatic hernia, Proximal placement of thumb, Synophrys, Microcornea, Otitis medi... |
OMIM:122470 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Cupped ribs, Obesity... |
OMIM:250420 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Eczema, Congestive heart failure, Camptodactyly, Pulmonary arterial hyperte... |
OMIM:619751 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Decreased proportion of CD8-positive T cells, Hypereosinophilia, Mitral valve prola... |
ORPHA:508533 |
Type 1 Diabetes Mellitus |
|
Polyuria, Autoimmunity, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Tubulointerstit... |
ORPHA:79259 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Recurrent bacterial skin infections, Recurrent respiratory infections, Hypertriglyc... |
ORPHA:167 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Postnatal growth retardation, Abnormal thorax morphology, Metaphyseal widening, Thin ribs, Triang... |
ORPHA:73230 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, L... |
OMIM:213980 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Maternal diabetes |
OMIM:610582 |
Aymé-Gripp Syndrome |
|
Congenital diaphragmatic hernia, Shallow orbits, Clinodactyly of the 5th finger, Megalocornea, Pr... |
ORPHA:1272 |
Unclassified Myelodysplastic Syndrome |
|
Autoimmunity, Bone marrow hypocellularity |
ORPHA:98827 |
Scleromyxedema |
|
Transient ischemic attack, Elevated circulating creatine kinase concentration, Abnormality of the... |
ORPHA:167635 |
Livedoid Vasculopathy |
|
Enlargement of the ankles, Superficial dermal perivascular inflammatory infiltrate, Recurrent ski... |
ORPHA:542643 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:610738 |
Achondrogenesis Type 1B |
|
Severe short stature, Femoral hernia, Short thorax, Abnormal rib morphology, Disproportionate sho... |
ORPHA:93298 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Inguinal hernia, Tapered toe, Larg... |
ORPHA:544488 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Hip dislocation, Sepsis, Pulmonary arterial hypertension, Hyperglycinemia, Hyperalaninemia |
OMIM:619059 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... |
ORPHA:2686 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Vitreous hemorrhage, Pulmonary embolism |
OMIM:612304 |
Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Megalocornea, Widely pa... |
OMIM:228520 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Recurrent skin infections, Abnormality of the kidney, Decreased serum iron, Recurrent upper respi... |
ORPHA:391372 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Small scrotum, Increased density of long bones, Tibial bowing, Hypoplasia of first ribs, Shallow ... |
OMIM:269150 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Ulnar deviation of the wrist, Eczema, Elbow contracture, Allergic rhinitis, Asthma, Knee flexion ... |
OMIM:618162 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Skin rash, Asthma, Increased circulating IgE level, Chro... |
ORPHA:330015 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Horizontal ey... |
ORPHA:294023 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Lipoyltransferase 1 Deficiency |
|
Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Bradycardia, Pulmonary arterial h... |
OMIM:616299 |
Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Lacticaciduria, Hypoalbuminemia, Hyperbili... |
OMIM:613070 |
Gamma-Heavy Chain Disease |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmun... |
ORPHA:100026 |
Familial Isolated Restrictive Cardiomyopathy |
|
Recurrent respiratory infections, Orthopnea, Tricuspid regurgitation, Atrial fibrillation, Suprav... |
ORPHA:75249 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Autoimmunity, Pneumonia, Autoimmune thrombocytopenia, Antinucle... |
OMIM:607944 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Epicanthus, Cataract, Small for gestational age, Hypospadias, Short stature, Postn... |
OMIM:257300 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Pectus carinatum, Abnormal ster... |
ORPHA:2911 |
Celiac Disease, Susceptibility To, 1 |
|
Eczema, Rickets, Osteoporosis, Thyroiditis, Recurrent aphthous stomatitis, Hypocalcemia, Stomatit... |
OMIM:212750 |
Chromosome 17Q12 Deletion Syndrome |
|
Long toe, Epicanthus, Short stature, Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, Long ... |
OMIM:614527 |
Cockayne Syndrome Type 2 |
|
Scarring, Cryptorchidism, Flexion contracture, Uveitis, Developmental cataract, Conjunctivitis, M... |
ORPHA:90322 |
Myasthenia Gravis |
|
Myositis, Raynaud phenomenon, Dyspnea, Anti-acetylcholine receptor antibody positivity, Anti-musc... |
ORPHA:589 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te... |
ORPHA:96179 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inguinal hernia, Prominent metopic ridge, Broad hallux, Upper eyelid entropion, Postaxial polydac... |
ORPHA:457284 |
Phaver Syndrome |
|
Broad hallux phalanx, Epicanthus, Camptodactyly of finger, Short thumb, Myelomeningocele, Abnorma... |
ORPHA:2876 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Omphalocele, Encephalocele, Rhizomelia, Postaxial polydactyly, Unicoronal synostosis, Sparse eyeb... |
OMIM:616300 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Elevated hemoglobin A1c |
OMIM:606176 |
Cenani-Lenz Syndrome |
|
Ptosis, Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphol... |
ORPHA:3258 |
Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
White Forelock With Malformations |
|
Finger syndactyly, Epicanthus, Abnormal rib morphology, White forelock, Clinodactyly of the 5th f... |
ORPHA:2475 |
Donnai-Barrow Syndrome |
|
Omphalocele, Cataract, Congenital diaphragmatic hernia, Hypoplasia of the iris, Bicornuate uterus... |
OMIM:222448 |
Mannosidosis, Alpha B, Lysosomal |
|
Recurrent bacterial infections, Decreased circulating antibody level |
OMIM:248500 |
Alveolar Echinococcosis |
|
Liver abscess, Abnormal pericardium morphology, Eosinophilia, Abnormal spleen morphology, Anemia,... |
ORPHA:284 |
Smith-Kingsmore Syndrome |
|
Decreased circulating IgA level |
OMIM:616638 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, First degree atrioventricular block, Supraventricular tachycardia, ... |
ORPHA:99105 |
Dyggve-Melchior-Clausen Disease |
|
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral bowing, Tib... |
OMIM:223800 |
Juvenile Dermatomyositis |
|
Calcinosis, Bundle branch block, Myositis, Pericarditis, Skin rash, Autoimmunity, Elevated circul... |
ORPHA:93672 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Spina bifida, Bifid uterus, Cryptorchidism, Myelomeningocele, Hypopla... |
ORPHA:83628 |
Pulmonary Capillary Hemangiomatosis |
|
Right ventricular failure, Antinuclear antibody positivity, Cytoplasmic antineutrophil antibody p... |
ORPHA:199241 |
Gaucher Disease Type 3 |
|
Recurrent respiratory infections, Increased bone mineral density, Proteinuria, Osteolysis, Increa... |
ORPHA:77261 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Short stature, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydact... |
OMIM:613091 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Inguinal hernia, Postnatal growth retardation, Cryptorchidism, Pancreatic lymphangiectasis, Posta... |
ORPHA:1655 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Productive cough, Recurrent my... |
ORPHA:244 |
Oeis Complex |
|
11 pairs of ribs, Omphalocele, Congenital hip dislocation, Bifid uterus, Cryptorchidism, Epispadi... |
OMIM:258040 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Knee flexion contracture,... |
OMIM:151050 |
Multiple Synostoses Syndrome 1 |
|
Symphalangism affecting the phalanges of the hand, Cutaneous finger syndactyly, Lower limb underg... |
OMIM:186500 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Abnormal rib morphology, Diaphyseal thickening |
ORPHA:2790 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Decreased DLCO, Dyspnea, Pulmonary arterial hypertension, Cough |
OMIM:234810 |
Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis, Dilated cardiomyopathy, Thrombocytopenia,... |
ORPHA:3260 |
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant |
|
Pulmonary embolism |
OMIM:612336 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Genu recurvatum, Lateral clavicle hook, Metaphyseal widening, Pectus carinatum, Shallow orbits, D... |
OMIM:182212 |
Gracile Bone Dysplasia |
|
Short stature, Flared metaphysis, Thin ribs, Slender long bone, Aniridia, Micropenis, Failure to ... |
OMIM:602361 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Hematemesis, Increased circulating ferritin... |
OMIM:615846 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormality of T cell physiology, Iridocyclitis, Dyspnea, Bronchiectasis, Uveitis, Hypercalciuria... |
OMIM:181000 |
Mosaic Trisomy 8 |
|
Short stature, Camptodactyly of finger, Corneal opacity, Cryptorchidism, Patellar aplasia, Abnorm... |
ORPHA:96061 |
Timothy Syndrome |
|
Prolonged QT interval, Pneumonia, Ventricular tachycardia, Atrioventricular block, Recurrent infe... |
OMIM:601005 |
Mevalonic Aciduria |
|
Skin rash, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr... |
OMIM:610377 |
Xylt1-Cdg |
|
Joint dislocation, Short stature, Acne, Coxa valga, Synophrys, Flared metaphysis, Growth delay, T... |
ORPHA:370930 |
Hypophosphatasia |
|
Bowing of the long bones, Short stature, Failure to thrive in infancy, Craniosynostosis, Abnormal... |
ORPHA:436 |
Acrocapitofemoral Dysplasia |
|
Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast... |
OMIM:607778 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Perianal a... |
OMIM:612541 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Supernumerary nipple, Bifid uterus, Sparse eyebrow, Abnormal reproductive system morp... |
ORPHA:1521 |
Behçet Disease |
|
Myositis, Myocardial infarction, Pulmonary embolism, Meningitis, Infectious encephalitis, Glomeru... |
ORPHA:117 |
Yellow Nail Syndrome |
|
Recurrent respiratory infections, Renal neoplasm, Sinusitis, Dyspnea, Bronchiectasis, Pulmonary a... |
ORPHA:662 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Nonproductive cough, Uveitis, Hypoalbuminemia... |
ORPHA:99826 |
Fibrochondrogenesis |
|
Omphalocele, Hypoplastic scapulae, Short stature, Camptodactyly of finger, Abnormal rib morpholog... |
ORPHA:2021 |
Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Hyperkalemia, Sepsis, Intracranial... |
OMIM:617053 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,... |
OMIM:301054 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Anemia, Cardiomegaly |
OMIM:618838 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Elevated jugular venous pressure, Increased circulating NT-proBNP concentr... |
ORPHA:57777 |
49,Xxxxy Syndrome |
|
Recurrent respiratory infections, Hypoplasia of penis, Renal hypoplasia/aplasia, Elbow dislocatio... |
ORPHA:96264 |
48,Xxxy Syndrome |
|
Recurrent respiratory infections, Hypoplasia of penis, Pulmonary embolism, Elbow dislocation, Ast... |
ORPHA:96263 |
Combined Oxidative Phosphorylation Deficiency 22 |
|
Hyperalaninemia, Congestive heart failure, Pulmonary arterial hypertension |
OMIM:616045 |
Kenny-Caffey Syndrome, Type 1 |
|
Delayed closure of the anterior fontanelle, Recurrent bacterial infections, Hypocalcemia, Hypomag... |
OMIM:244460 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Pulmonary arterial hypertension, Elevated jugular venous pressure, Abnormally loud pulmonic compo... |
OMIM:265450 |
Trichothiodystrophy 1, Photosensitive |
|
Asthma, Flexion contracture, Recurrent infections, Telangiectasia, Keratoconjunctivitis sicca, Er... |
OMIM:601675 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Rheumatoid a... |
ORPHA:95459 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Orthopnea, Tachycardia, ... |
ORPHA:2041 |
Trichothiodystrophy |
|
Joint dislocation, Congenital exfoliative erythroderma, Brittle hair, Multiple joint contractures... |
ORPHA:33364 |
Neuroleptic Malignant Syndrome |
|
Elevated circulating creatine kinase concentration, Urinary incontinence, Pulmonary embolism, Sep... |
ORPHA:94093 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
External genital hypoplasia, Large for gestational age, Flexion contracture, Tibial bowing, Narro... |
ORPHA:96334 |
Cardiomyopathy, Dilated, 2C |
|
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy |
OMIM:618189 |
Floating-Harbor Syndrome |
|
Enlarged joints, Humeral pseudarthrosis, Abnormal anterior chamber morphology, Dislocated radial ... |
ORPHA:2044 |
Cleidocranial Dysplasia |
|
Sinusitis, Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, Ch... |
ORPHA:1452 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Hypercalciuria, Renal cyst, Ne... |
ORPHA:369837 |
Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Thoracic dysplasia, Narrow chest, Short palm, Short toe, Short thorax, Short ... |
OMIM:269860 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... |
OMIM:187760 |
Acquired Generalized Lipodystrophy |
|
Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Autoimmunity, Abnormality of complement sy... |
ORPHA:79086 |
Coffin-Siris Syndrome 1 |
|
Dry hair, Congenital diaphragmatic hernia, Prominent interphalangeal joints, Prominent fingertip ... |
OMIM:135900 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Recurrent respiratory infections, Renal insufficiency, Gout, Hyperuricosuria, Arthr... |
ORPHA:411543 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Urethral stricture, Renal insufficiency, Foot joint contracture, Glomerulonephritis, ... |
ORPHA:79408 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Pemphigus Erythematosus |
|
Autoimmunity, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, S... |
ORPHA:79480 |
Poems Syndrome |
|
Sclerosis of hand bone, Sclerosis of foot bone, Respiratory insufficiency due to muscle weakness,... |
ORPHA:2905 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Athetosis, Hyperglycemia, Glycosuria |
OMIM:618857 |
Monosomy 9P |
|
Epicanthus, Ambiguous genitalia, Hypospadias, Highly arched eyebrow, Congenital diaphragmatic her... |
ORPHA:261112 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Pectus carinatum, Clinodactyly of the 5th finger, Chronic otitis media, Hypo... |
ORPHA:1507 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
Exstrophy-Epispadias Complex |
|
Omphalocele, Bifid scrotum, Inguinal hernia, Spina bifida, Bifid uterus, Cryptorchidism, Epispadi... |
ORPHA:322 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida, Abnormal rib morphology, Low posterior hairline, Abnormal shoulder morphology, Cerv... |
ORPHA:2345 |
Shwachman-Diamond Syndrome |
|
Osteopenia, Sinusitis, Skin rash, Eczema, Pneumonia, Osteomyelitis, Recurrent viral infections, A... |
ORPHA:811 |
Immunodeficiency 21 |
|
Osteomyelitis, Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Rec... |
OMIM:614172 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal pelvic girdle bone morphology, Intrauterine growth retardation, Slender long bone, Abnor... |
ORPHA:1506 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Short stature, Camptodactyly of finger, Eczema, Abnormal preputium morphology,... |
ORPHA:2907 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Omphalocele, Long toe, Epicanthus, Inguinal hernia, Overlapping toe, Pectus excavatum, Postnatal ... |
ORPHA:254528 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Cataract, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospa... |
OMIM:206900 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... |
ORPHA:774 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
Idiopathic Aplastic Anemia |
|
Epistaxis, Autoimmune antibody positivity, Retinal hemorrhage, Recurrent infections, Bone marrow ... |
ORPHA:88 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Clitoral hypoplasia, Short palm, Micropenis, Duplication of the distal phalanx of hand, Dislocate... |
OMIM:268310 |
Sengers Syndrome |
|
Osteopenia, Cardiac arrest, Sudden cardiac death, Respiratory insufficiency, 3-Methylglutaconic a... |
OMIM:212350 |
Hyperparathyroidism, Transient Neonatal |
|
Hyperparathyroidism, Inguinal hernia, Short femur, Metaphyseal spurs, Wide cranial sutures, Undul... |
OMIM:618188 |
Dubowitz Syndrome |
|
Hypospadias, Eczema, Recurrent infections, Otitis media, Hypocholesterolemia, Decreased circulati... |
OMIM:223370 |
Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... |
ORPHA:65681 |
Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Pseudohypoparathyroidism Type 1C |
|
Short metacarpal, Short fifth metatarsal, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:79444 |
Sarcoidosis, Susceptibility To, 2 |
|
Erythema nodosum, Dyspnea, Pneumothorax, Bronchiectasis, Uveitis, Hypoxemia, Restrictive ventilat... |
OMIM:612387 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Abnormal heart rate v... |
ORPHA:70588 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Small for gestational age, Large for gestational age, Postnatal growth retardation, ... |
ORPHA:254534 |
Fryns Syndrome |
|
Bifid scrotum, Ectopic pancreatic tissue, Proximal placement of thumb, Large for gestational age,... |
OMIM:229850 |
Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Wormian bones, Sparse eyelashes, Small for gestational age, Proportionate shor... |
OMIM:234100 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc... |
ORPHA:392 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Epicanthus, Tapered finger, Precocious puberty, Synophrys, Limited elbow extension, Hip dislocati... |
OMIM:301066 |
Basal Cell Nevus Syndrome 1 |
|
Short distal phalanx of the thumb, Vertebral fusion, Ovarian fibroma, Cataract, Down-sloping shou... |
OMIM:109400 |
Bent Bone Dysplasia Syndrome 2 |
|
Bowed humerus, Hypoplastic iliac wing, Short tibia, Ulnar bowing, Thin ribs, Femoral bowing, Shor... |
OMIM:620076 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Pustule... |
ORPHA:247353 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Ankle swelling, Joint stiffness, Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthri... |
ORPHA:85408 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
Melnick-Needles Syndrome |
|
Omphalocele, Bowing of the long bones, Short stature, Coxa valga, Short thorax, Abnormal rib morp... |
ORPHA:2484 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ankle swelling, Cra... |
ORPHA:99095 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Abnormality of the uterus, Triphalangeal thumb, Limbal dermoi... |
ORPHA:857 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Sclerocornea, Hernia, Chronic otitis me... |
ORPHA:280 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Bowing of the long bones, Radial bowing, Abnormal rib morphology, Abnormal fibula mo... |
ORPHA:3035 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Bowing of the long bones, Short stature, Abnormal dental enamel morphology, Co... |
ORPHA:582 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Short stature, Craniosynostosis, Split hand, Abnormal rib morphology, Intraute... |
ORPHA:2145 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Telecanthus, Symblepharon, Broad femoral neck, Abnormal rib morphology, Small hand, Short foot, M... |
ORPHA:488434 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Knee flexion contracture, Clinodact... |
ORPHA:3103 |
Neu-Laxova Syndrome 1 |
|
Calcaneovalgus deformity, Pterygium, Finger syndactyly, Spina bifida, Bifid uterus, Absent eyelas... |
OMIM:256520 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis, Recurrent bacterial infections, Hyperphosphatemia, Hypocalcemia, Micropeni... |
OMIM:241410 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Autoimmunity, Congestive heart ... |
ORPHA:90033 |
De Sanctis-Cacchione Syndrome |
|
Entropion, Severe short stature, Bilateral cryptorchidism, Keratitis, Gonadal hypoplasia, Conjunc... |
OMIM:278800 |
Monosomy 9Q22.3 |
|
Epicanthus, Ovarian fibroma, Cataract, Large for gestational age, Pectus excavatum, Abnormal rib ... |
ORPHA:77301 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Respiratory insufficie... |
ORPHA:90308 |
Glycogen Storage Disease Ic |
|
Renal insufficiency, Proteinuria, Spider hemangioma, Chronic pancreatitis, Hyperlipidemia, Recurr... |
OMIM:232240 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Proximal placement of thumb, Sclerocornea, ... |
ORPHA:818 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Epicanthus, Short stature, Postaxial polydactyly, Postaxial hand polydactyly, Hydrometrocolpos, A... |
OMIM:617088 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Sclerocornea, Ab... |
ORPHA:3472 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chronic kidney disease, ... |
OMIM:613845 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Short humerus, Short metacarpal, Abnormal external genitalia, Enlarged... |
ORPHA:3404 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Adenoma sebaceum, Abnorma... |
ORPHA:3353 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Recurrent otitis media, Long palpebral fis... |
OMIM:602562 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal morphology of the radius, Bowing of the long bones, Precoc... |
ORPHA:249 |
Cooper-Jabs Syndrome |
|
Short stature, Camptodactyly of finger, Congenital diaphragmatic hernia, Missing ribs, Proximal p... |
ORPHA:1488 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia,... |
OMIM:114290 |
Monosomy 18Q |
|
Left-to-right shunt, Congestive heart failure, Mitral regurgitation, Aortic valve stenosis, Micro... |
ORPHA:1600 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart murmur, Syncop... |
ORPHA:422 |
Spondyloepiphyseal Dysplasia Tarda |
|
Increased inflammatory response, Increased bone mineral density, Osteoarthritis of the distal int... |
ORPHA:93284 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Epicanthus, Arachnodactyly, Missing ribs, Abnormal rib morphology, Clinodactyly of the 5th finger... |
ORPHA:2759 |
Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polydactyly, Postaxial h... |
OMIM:619879 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Panniculitis, Autoimmunity, Hypertriglyceridemia |
OMIM:618398 |
Mgat2-Cdg |
|
Osteopenia, Respiratory distress, Decreased circulating antibody level, Decreased lymphocyte prol... |
ORPHA:79329 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Recurrent skin infections, Abnormal dental enamel morphology, Camptodactyly of... |
ORPHA:2908 |
Pontocerebellar Hypoplasia Type 7 |
|
Epicanthus, Abnormal scrotal rugation, Cryptorchidism, Upslanted palpebral fissure, Gonadal dysge... |
ORPHA:284339 |
Chromomycosis |
|
Keratitis, Ankylosis, Osteolysis, Recurrent bacterial infections, Keratoconjunctivitis sicca |
ORPHA:182 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Biliary hyperplasia, Coarse hair, Micropenis, Pancreatic hypoplasia, Arachnodactyly, Cryptorchidi... |
ORPHA:83617 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short metatarsal, Femoral bowing, Tibial bowing, N... |
OMIM:304120 |
Myhre Syndrome |
|
Hypoplastic iliac wing, Sparse hair, Broad ribs, Vertebral fusion, Short stature, Cryptorchidism,... |
OMIM:139210 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Telecanthus, Small for gestational age, Thoracic hypoplasia, Elbow contracture, ... |
OMIM:208150 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Telangiectasia of the skin, Recurrent fractures, Osteomalacia, Camptodactyly of finge... |
ORPHA:2176 |
Say-Barber-Miller Syndrome |
|
Eczema, Craniosynostosis, Erythema nodosum, Transient hypogammaglobulinemia of infancy, Hip dislo... |
ORPHA:3132 |
Keutel Syndrome |
|
Recurrent otitis media, Recurrent respiratory infections, Pulmonary arterial hypertension, Recurr... |
ORPHA:85202 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Respiratory failure requiring assisted ventilation, Anuria, Peritonitis, Megacystis, Recurrent in... |
OMIM:619351 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... |
ORPHA:99106 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... |
OMIM:214500 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Sclerocornea, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Knee... |
OMIM:600920 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Joint hypermobility, Decreased circulating IgA level, Decreased ... |
OMIM:617062 |
Tarp Syndrome |
|
Finger syndactyly, Rocker bottom foot, Abnormal hair pattern, Postaxial polydactyly, Pectus excav... |
ORPHA:2886 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respiratory infec... |
OMIM:301074 |
Trichinellosis |
|
Skin rash, Increased circulating IgE level, Retinal hemorrhage, Conjunctivitis, Meningitis |
ORPHA:863 |
Catel-Manzke Syndrome |
|
Joint dislocation, Pectus carinatum, Clinodactyly of the 5th finger, Short metacarpal, Cryptorchi... |
OMIM:616145 |
Cockayne Syndrome Type 1 |
|
Cataract, Foot joint contracture, Scarring, Postnatal growth retardation, Cryptorchidism, Uveitis... |
ORPHA:90321 |
Gaucher Disease |
|
Osteopenia, Joint dislocation, Increased bone mineral density, Osteomyelitis, Proteinuria, Recurr... |
ORPHA:355 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal chondrodysplasia, Pectus carinatum, Tibial bowing, Narrow chest, Short palm, Sparse h... |
ORPHA:175 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Psoriasiform dermatitis, Septate vagina, Uterus didelphys, Parathyroid hypopl... |
ORPHA:2237 |
Localized Scleroderma |
|
Fasciitis, Autoimmunity, Abnormality of the kidney, Raynaud phenomenon, Flexion contracture, Vasc... |
ORPHA:90289 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micropenis, Short stature, Cryptorchidism, Humer... |
OMIM:134780 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Tricuspid regurgitation, Congestive heart failure, Chronic pulmonary obstru... |
ORPHA:2414 |
Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Ankle swelling, Increased pulmonary vascular resistance, Congestive hear... |
ORPHA:275766 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Septate vagina, Postaxial polydactyly, Lateral clavicle hook, Preaxial polyda... |
OMIM:617925 |
Pediatric-Onset Graves Disease |
|
Episcleritis, Atrial fibrillation, Autoimmunity, Craniosynostosis, Keratitis, Neonatal asphyxia, ... |
ORPHA:525731 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Autoimmunity, Hypotension |
ORPHA:91354 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Metaphyseal widening, Flexion contracture, Delayed proximal femoral epiphyseal ossification, Flar... |
OMIM:271640 |
Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79443 |
Noonan Syndrome 1 |
|
Abnormal sternum morphology, Male infertility, Hypospadias, Short stature, Cryptorchidism, Superi... |
OMIM:163950 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Tricuspid regurgitation, Crackles, Dyspnea, Asthma, Wheezing, Bronchiectasis, Chronic cough, Pleu... |
OMIM:620233 |
Cysticercosis |
|
Iridocyclitis, Stiff neck, Increased circulating antibody level, Infectious encephalitis |
ORPHA:1560 |
Fanconi Anemia, Complementation Group L |
|
Absent thumb, Absent radius, Upslanted palpebral fissure, Growth delay, Aplasia of the uterus, In... |
OMIM:614083 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Autoimmunity, Increased circulating free fatty acid level |
ORPHA:293964 |
Wiedemann-Rautenstrauch Syndrome |
|
Flexion contracture, Hypoplasia of the thymus, Narrow chest, Genu varum, Long toe, Absent eyebrow... |
OMIM:264090 |
Crouzon Syndrome |
|
Sagittal craniosynostosis, Keratitis, Conjunctivitis, Lambdoidal craniosynostosis, Shallow orbits... |
OMIM:123500 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Respir... |
ORPHA:79282 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, Obesity, Sprengel anomaly... |
ORPHA:2180 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Conjunctival telangiectasia, Increased circulating antibody level, Elevated circulating creatine ... |
OMIM:606002 |
Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Short stature, Abnormal dental enamel morphology, ... |
ORPHA:2050 |
Adiposis Dolorosa |
|
Telangiectasia of the skin, Arthritis, Recurrent skin infections, Autoimmunity |
ORPHA:36397 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Keratoconus, Inguinal hernia, Short stature, Pectus excavatum, Cryptorchidism, Cigarette-paper sc... |
OMIM:130050 |
Charge Syndrome |
|
Bifid scrotum, Abnormal tibia morphology, Eyelid coloboma, Clinodactyly of the 5th finger, Microp... |
ORPHA:138 |
Eisenmenger Syndrome |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Ventricular tachycar... |
ORPHA:97214 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly... |
OMIM:263520 |
Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Autoimmunity, Pneumonia, Meningitis, Peritonitis, Dyspnea, O... |
ORPHA:1546 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Abnormal rib morphology, Femoral bowin... |
ORPHA:83 |
Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Ret... |
OMIM:603903 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Recurrent urinary tract infections, Autoimmunity, Renal salt wasting, Hyperkalemia,... |
ORPHA:361 |
Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Right ventricular failure, Abnormal circulating calcium concentration, N... |
ORPHA:60025 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Short stature, Abnormality of the elbow, Abnormal rib morphology, Slender long bone, Abnormal hip... |
ORPHA:1486 |
Hurler-Scheie Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Camptodactyly of finger, Joint stiffness,... |
OMIM:607015 |
Aicardi Syndrome |
|
Cataract, Block vertebrae, Proximal placement of thumb, Missing ribs, Hiatus hernia, Precocious p... |
OMIM:304050 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Short stature, Camptodactyly of finger, Corneal opacity, Abnormalit... |
ORPHA:93473 |
Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology |
OMIM:602196 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Tachypnea, Methylmalonic aciduria, Hyperhomocystinemia... |
OMIM:614857 |
Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Elevated circulating creatine kinase concentration, Sudden cardiac death, Dyspnea, D... |
OMIM:614921 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Dermatitis Herpetiformis |
|
Autoimmunity, Recurrent fractures, Eczema |
ORPHA:1656 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Cachexia, Sclerocornea, Ectopia lentis... |
ORPHA:649 |
Pulmonary Hypertension, Primary, 4 |
|
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... |
OMIM:615344 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Lateral clavicle hook, Early ossification of capital femoral epiphyses, Thoracic dysplasia, Narro... |
OMIM:208500 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Pulmonary embolism |
ORPHA:745 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Short metatarsal, Triphalangeal thumb, 2-4 finger syndactyly, Hypospadias, Bifid u... |
OMIM:107480 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... |
ORPHA:729 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Lacticaciduria, Respiratory i... |
OMIM:605711 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Joint dislocation, Joint laxity, Autoimmunity, Generalized joint laxity, Recurrent infections, Pe... |
OMIM:130080 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... |
OMIM:193300 |
Pallister-Hall Syndrome |
|
Small scrotum, Large for gestational age, Gonadotropin deficiency, Micropenis, Aplasia/hypoplasia... |
ORPHA:672 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Clinodactyly of the 5th finger, Generalized hirsutism, Hypospadias, Short st... |
ORPHA:1606 |
Simpson-Golabi-Behmel Syndrome |
|
Hypoplasia of penis, Congenital hip dislocation, Congenital diaphragmatic hernia, Clinodactyly of... |
ORPHA:373 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Tachypnea, Respiratory insufficiency, Recurrent infections, Res... |
OMIM:618278 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hyperalaninemia, Pulmonary arterial hypertension, Hyperprolinemia |
OMIM:619064 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Renal insufficiency, Orthostatic hypotension, Hypercalcemia, Autoimmunity, Renal sa... |
ORPHA:95409 |
Okamoto Syndrome |
|
Omphalocele, Prominent metopic ridge, Bifid uterus, Extension of hair growth on temples to latera... |
ORPHA:2729 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus, Vertebral fusion |
ORPHA:3109 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Pulmonary embolism |
ORPHA:743 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,... |
OMIM:211350 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Myositis, Flexion contracture, Respiratory insufficiency, Highly elevated creati... |
ORPHA:258 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Respiratory insufficiency, Hematuria, Hypertension, Second degree atrioventricular block, Hypoalb... |
OMIM:617021 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Abnormal pupil morphology, Lentiglobus, Periodontitis, Chronic otitis media,... |
ORPHA:534 |
Familial Multiple Nevi Flammei |
|
Intracranial hemorrhage, Arrhythmia, Pulmonary embolism |
ORPHA:624 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Tricuspid regurgitation, Hyperammonemia, Pulmonary arterial hypertension, Hyperalaninemia, Hypert... |
OMIM:619051 |
Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Renal hypophosphatemia, Autoimmunity, Osteomalacia, Hypercalcemia, Parathormone-... |
ORPHA:405 |
Angioedema, Hereditary, 1 |
|
Decreased circulating C1-esterase inhibitor concentration, Autoimmunity, Reduced hemolytic comple... |
OMIM:106100 |
Viss Syndrome |
|
Joint laxity, Chronic gastritis, Recurrent joint dislocation, Epidural hemorrhage, Eczema, Dyspne... |
OMIM:619472 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic notch, Short p... |
OMIM:250220 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Omphalocele, Bifid uterus |
ORPHA:2736 |
Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Spina bifida occulta, Hypospadias, Bifid uterus |
OMIM:617466 |
Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Ectropion |
ORPHA:411777 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Preaxial polydactyly, Radial deviation of the 3rd finger, Conjunctivitis... |
OMIM:149730 |
Dextrocardia |
|
Abnormal reproductive system morphology, Pancreatic hypoplasia, Abnormal rib morphology, Congenit... |
ORPHA:1666 |
Autoimmune Polyendocrinopathy Type 1 |
|
Autoimmunity, Chronic mucocutaneous candidiasis |
ORPHA:3453 |
X-Linked Hypophosphatemia |
|
Beaded ribs, Bowing of the legs, Trapezoidal distal femoral condyles, Enthesitis, Genu varum, Enl... |
ORPHA:89936 |
Cushing Disease |
|
Sparse scalp hair, Diabetes mellitus, Impaired glucose tolerance, Optic nerve compression, Leukoc... |
ORPHA:96253 |
Arboleda-Tham Syndrome |
|
Bilateral cryptorchidism, Long thorax, Conjunctivitis, Narrow chest, Chronic otitis media, Sparse... |
OMIM:616268 |
Felty Syndrome |
|
Rheumatoid arthritis |
OMIM:134750 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Abnormal sacroiliac joint morphology, Per... |
ORPHA:32960 |
Sarcoidosis |
|
Hepatomegaly, Alopecia, Hemolytic anemia, Eosinophilia, Thrombocytopenia, Increased T cell count,... |
ORPHA:797 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb morphology, Short th... |
ORPHA:1120 |
Restrictive Dermopathy |
|
Multiple joint contractures, Sparse hair, Hypospadias, Sparse eyebrow, Sparse or absent eyelashes... |
ORPHA:1662 |
Cardiospondylocarpofacial Syndrome |
|
Epicanthus, Telecanthus, Short stature, Brachydactyly, Congenital diaphragmatic hernia, Tarsal sy... |
OMIM:157800 |
Pallister-Killian Syndrome |
|
Small scrotum, Congenital hip dislocation, Congenital diaphragmatic hernia, Flexion contracture, ... |
OMIM:601803 |
Roberts-Sc Phocomelia Syndrome |
|
Tetraphocomelia, Knee flexion contracture, Eyelid coloboma, Shallow orbits, Sparse hair, Phocomel... |
OMIM:268300 |
Dermatomyositis |
|
Recurrent respiratory infections, Pericarditis, Telangiectasia of the skin, Autoimmunity, Myocard... |
ORPHA:221 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Brain abscess, Central apnea, Urinary incontinence, Congestive heart failur... |
OMIM:616482 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Joint laxity, Hypertension, Recurrent otitis media, Autoimmunity |
ORPHA:449291 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure |
OMIM:178400 |
Loeys-Dietz Syndrome |
|
Joint dislocation, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Pectus excavatum, P... |
ORPHA:60030 |
Congenital Tracheomalacia |
|
Neonatal respiratory distress, Apnea, Pneumonia, Intercostal retractions, Productive cough, Dyspn... |
ORPHA:95430 |
Lymphedema And Cerebral Arteriovenous Anomaly |
|
Pulmonary arterial hypertension |
OMIM:152900 |
Pulmonary Hypertension, Primary, 3 |
|
Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a... |
OMIM:615343 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Membranoproliferative glomerulonephritis, Microscopic hematuria, Osteoporosis, Recurrent otitis m... |
OMIM:619525 |
Vascular Ehlers-Danlos Syndrome |
|
Joint dislocation, Congenital hip dislocation, Osteoarthritis, Abnormal pupil morphology, Periodo... |
ORPHA:286 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Unilateral cryptorchidism, Congenital diaphragmatic hernia, Cryptorchidism, 2-3 to... |
OMIM:618280 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Hypertriglyceridemia, Pulmonary embolism, Perianal abscess, Hyperlipidemia, R... |
ORPHA:444490 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation |
OMIM:614651 |
Hydrolethalus Syndrome 1 |
|
Omphalocele, Hypospadias, Bifid uterus, Preaxial hand polydactyly, Postaxial hand polydactyly, Du... |
OMIM:236680 |
Aregenerative Anemia |
|
Dyspnea, Abnormality of interleukin secretion, Bone marrow hypocellularity |
ORPHA:101096 |
Transketolase Deficiency |
|
Cataract, Proportionate short stature, Seborrheic dermatitis, Uveitis, Secondary amenorrhea, Conj... |
ORPHA:488618 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
Craniorachischisis |
|
Omphalocele, Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephal... |
ORPHA:63260 |
Toxic Epidermal Necrolysis |
|
Entropion, Corneal erosion, Weight loss, Conjunctivitis, Abnormal vagina morphology, Pancreatitis |
ORPHA:537 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Delayed epiphyseal ossification, Tachypnea, Flat acetabular roof, Hypertension, Wormian bones, Pu... |
OMIM:613320 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Genu valgum, Delayed ossification of carpal bones, Laryngotracheomalacia, Decreased c... |
OMIM:271510 |
Achalasia, Familial Esophageal |
|
Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:200400 |
Pulmonary Hypertension, Primary, 5 |
|
Angina pectoris, Right ventricular failure, Syncope, Pulmonary arterial hypertension, Exertional ... |
OMIM:265400 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Nephrolithiasis, Intracranial hemorrhage, Hypertension, Hypokalemia, Second degree atr... |
ORPHA:369929 |
Nodular Non-Suppurative Panniculitis |
|
Panniculitis, Inflammatory abnormality of the eye, Autoimmunity |
ORPHA:33577 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Abnormality of the knee, Hypoventilation, Neonatal respiratory distress, Li... |
ORPHA:98915 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Pulmonary arterial hypertension |
OMIM:300887 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Myocardial infarction, P... |
ORPHA:447 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormal rib morphology, Low posterior hairline, Cervical C2/C3 vertebral fusion, Sprengel anomal... |
OMIM:118100 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac... |
OMIM:259420 |
Acute Transverse Myelitis |
|
Orthostatic hypotension, Invasive parasitic infection, Decreased circulating copper concentration... |
ORPHA:139417 |
Adult Syndrome |
|
Sparse scalp hair, Absent nipple, Fair hair, Toe syndactyly, Sparse axillary hair, Eczema, Split ... |
OMIM:103285 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, External genital hypoplasia, Gonadotropin ... |
OMIM:214800 |
Cold Agglutinin Disease |
|
Abnormal urinary color, Autoimmunity |
ORPHA:56425 |
Osteogenesis Imperfecta |
|
Abnormal tibia morphology, Flexion contracture, Osteoarthritis, Abnormal femur morphology, Pectus... |
ORPHA:666 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Autoimmunity, Chilblains, Raynaud phenomenon, Increased ci... |
ORPHA:51 |
Braddock Syndrome |
|
Pulmonary arterial hypertension, Neonatal respiratory distress, Unilateral renal agenesis |
ORPHA:52047 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Myocarditis, Adrenal p... |
ORPHA:892 |
Hughes-Stovin Syndrome |
|
Pulmonary embolism, Dyspnea, Vasculitis, Cardiorespiratory arrest, Cough, Pulmonary arterial hype... |
ORPHA:228116 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Hypertension, Progressive flexion contractures, Transient hyperphenylalaninemia, Rheumatoid arthr... |
ORPHA:98808 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Autoimmunity, Pustule, Crusting erythematous dermatitis, Erythroderma |
ORPHA:79481 |
Alström Syndrome |
|
Respiratory distress, Urinary incontinence, Functional abnormality of the bladder, Otitis media, ... |
ORPHA:64 |
Vater/Vacterl Association |
|
Syndactyly, Occipital encephalocele, Hypospadias, Spina bifida, Postnatal growth retardation, Sho... |
OMIM:192350 |
19P13.3 Microduplication Syndrome |
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Pulmonary arterial hypertension, Osteoporosis, Hip subluxation, Hip dislocation |
ORPHA:447980 |
Total Anomalous Pulmonary Venous Return 1 |
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Recurrent respiratory infections, Pulmonary arterial hypertension |
OMIM:106700 |
Dehydrated Hereditary Stomatocytosis |
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Increased circulating ferritin concentration, Pulmonary venous hypertension, Abnormal blood potas... |
ORPHA:3202 |
Ciliary Dyskinesia, Primary, 20 |
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Recurrent respiratory infections, Productive cough, Recurrent pneumonia, Bronchiectasis, Aortic v... |
OMIM:615067 |
Craniofaciofrontodigital Syndrome |
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Osteopenia, Joint laxity, Respiratory distress, Gastrointestinal hemorrhage, Persistent fetal cir... |
ORPHA:363705 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
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Scapular winging, Lacrimal duct stenosis, Down-sloping shoulders, Tapered finger, Periorbital der... |
OMIM:615560 |
Pulmonary Hypertension, Primary, 1 |
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Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Blau Syndrome |
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Clear cell renal cell carcinoma, Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Ret... |
ORPHA:90340 |
Laryngotracheoesophageal Cleft Type 4 |
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Abnormal rib morphology, Cachexia |
ORPHA:93941 |
Brain-Lung-Thyroid Syndrome |
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Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Hypospadia... |
ORPHA:209905 |
Absence Of The Pulmonary Artery |
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Recurrent respiratory infections, Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation,... |
ORPHA:980 |
Cirrhosis, Familial |
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Fulminant hepatitis, Increased level of L-fucose in urine, Increased level of propylene glycol in... |
OMIM:215600 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi... |
ORPHA:93317 |
Mucopolysaccharidosis Type 3 |
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Abnormal clavicle morphology, Inguinal hernia, Cataract, Corneal opacity, Thick hair, Avascular n... |
ORPHA:581 |
Beta-Thalassemia Intermedia |
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Osteopenia, High-output congestive heart failure, Osteoporosis, Increased susceptibility to fract... |
ORPHA:231222 |
Nestor-Guillermo Progeria Syndrome |
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Wide cranial sutures, Limited elbow movement, Delayed closure of the anterior fontanelle, Joint s... |
OMIM:614008 |
Classic Homocystinuria |
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Gastrointestinal hemorrhage, Recurrent fractures, Pulmonary embolism, Joint stiffness, Osteoporos... |
ORPHA:394 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
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Nephrolithiasis, Hypertension, Second degree atrioventricular block, Hypokalemia, Pulmonary arter... |
OMIM:615474 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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Pulmonary arterial hypertension, Recurrent pneumonia, Hypospadias, Hydronephrosis |
OMIM:616449 |
Glossopharyngeal Neuralgia |
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Bradycardia, Jaw claudication, Autoimmunity, Syncope |
ORPHA:221098 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
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Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Intraalveolar phospholipid accumulation... |
OMIM:265120 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Fasciitis, Osteomyelitis, Neuropathic arthropathy, Chronic kidney disease, Painless fractures due... |
ORPHA:642 |
Mucopolysaccharidosis, Type Vi |
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Tricuspid regurgitation, Pneumonia, Joint stiffness, Flexion contracture, Recurrent upper respira... |
OMIM:253200 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Abnormal penis morphology, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Sym... |
ORPHA:95455 |
X-Linked Intellectual Disability, Nascimento Type |
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Recurrent cutaneous abscess formation, Recurrent respiratory infections, Hypospadias, Mitral sten... |
ORPHA:163956 |
Campomelia, Cumming Type |
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Bowing of the long bones, Pancreatic cysts, Abnormal thorax morphology, Abnormal rib morphology, ... |
ORPHA:1318 |
Stiff-Person Syndrome |
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Hypertension, Tachycardia, Autoimmunity |
OMIM:184850 |
Tetrasomy 5P |
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Respiratory distress, Recurrent respiratory infections, Congestive heart failure, Heart murmur, P... |
ORPHA:3309 |
Gaucher Disease, Type I |
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Epistaxis, Dyspnea, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, Patholog... |
OMIM:230800 |
Cardiomyopathy, Dilated, 2D |
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Tricuspid regurgitation, Dilated cardiomyopathy, Pulmonary arterial hypertension, Mitral regurgit... |
OMIM:619371 |
Holzgreve Syndrome |
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Abnormal morphology of ulna, Abnormal rib morphology, Hand polydactyly, Abnormal metacarpal morph... |
ORPHA:2167 |
Familial Osteodysplasia, Anderson Type |
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Aplastic clavicle, Missing ribs, Elbow dislocation, Abnormal rib morphology, Bifid femur, Aplasia... |
ORPHA:2769 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
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Respiratory distress, Pulmonary arterial hypertension, Hypospadias, Bradycardia |
OMIM:619272 |
Thoracic Outlet Syndrome |
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Abnormal rib morphology |
ORPHA:97330 |
Stuve-Wiedemann Syndrome 1 |
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Enlarged joints, Apnea, Osteoporosis, Elbow flexion contracture, Respiratory insufficiency, Contr... |
OMIM:601559 |
22Q11.2 Deletion Syndrome |
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Gastrointestinal hemorrhage, Acne, Autoimmunity, Impaired T cell function, Seborrheic dermatitis,... |
ORPHA:567 |
Combined Immunodeficiency-Enteropathy Spectrum |
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Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmunity, Hepatitis, Recurrent abscess ... |
ORPHA:436252 |
Overhydrated Hereditary Stomatocytosis |
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Hyperbilirubinemia, Pulmonary embolism |
OMIM:185000 |
Melas |
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Wolff-Parkinson-White syndrome, Proteinuria, Cardiac conduction abnormality, Dilated cardiomyopat... |
ORPHA:550 |
Autosomal Recessive Malignant Osteopetrosis |
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Recurrent respiratory infections, Apnea, Recurrent fractures, Craniosynostosis, Reduced bone mine... |
ORPHA:667 |
15Q Overgrowth Syndrome |
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Contracture of the proximal interphalangeal joint of the 2nd finger, Tricuspid regurgitation, Ure... |
ORPHA:314585 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
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Scapular winging, Small for gestational age, Bilateral cryptorchidism, Cryptorchidism, Synophrys,... |
OMIM:617796 |
Fg Syndrome Type 1 |
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Limited elbow extension and supination, Progressive flexion contractures, Hypospadias, Craniosyno... |
ORPHA:93932 |
Osteopetrosis With Renal Tubular Acidosis |
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Recurrent fractures, Elevated circulating creatine kinase concentration, Proximal renal tubular a... |
ORPHA:2785 |
Addison Disease |
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Hyponatremia, Orthostatic hypotension, Autoimmunity, Hypercalcemia, Renal salt wasting, Decreased... |
ORPHA:85138 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
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Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Brain abscess, High-ou... |
OMIM:187300 |
Atrial Septal Defect 9 |
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Pulmonary arterial hypertension |
OMIM:614475 |
Isolated Congenital Alacrima |
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Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ... |
ORPHA:91416 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
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Renal hypoplasia, Renal cyst, Recurrent infections, Microphallus, Vesicoureteral reflux, Pulmonar... |
OMIM:618454 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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Hypospadias, Recurrent pneumonia, Male urethral meatus stenosis, Pulmonary arterial hypertension,... |
ORPHA:464738 |
Ogden Syndrome |
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Global glomerulosclerosis, Prominent metopic ridge, Congenital hip dislocation, Apnea, Eczema, Ve... |
OMIM:300855 |
Alagille Syndrome 1 |
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Hypoplasia of the ulna, Posterior embryotoxon, Cataract, Band keratopathy, Abnormal rib morpholog... |
OMIM:118450 |
Melnick-Needles Syndrome |
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Recurrent respiratory infections, Ureteral stenosis, Hip dislocation, Osteolytic defects of the p... |
OMIM:309350 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Transient ischemic attack, Sagittal craniosynostosis, Unilateral renal agenesis, Bilateral renal ... |
ORPHA:500150 |
Tetrasomy 9P |
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Joint dislocation, Renal dysplasia, Myositis, Pericarditis, Recurrent urinary tract infections, R... |
ORPHA:3310 |
Relapsing Polychondritis |
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Episcleritis, Alopecia, Pericarditis, Cataract, Chondritis of pinna, Keratitis, Myocarditis, Hepa... |
ORPHA:728 |
Reactive Arthritis |
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Pericarditis, Osteomyelitis, Pustule, Weight loss, Enthesitis, Arthritis, Joint swelling, Inflamm... |
ORPHA:29207 |
Pulmonary Hypertension, Primary, 2 |
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Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Abnormally loud pulmoni... |
OMIM:615342 |
Marshall-Smith Syndrome |
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Decreased hip abduction, Large sternal ossification centers, Recurrent fractures, Craniosynostosi... |
OMIM:602535 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
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Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Flexion contracture, Knee... |
OMIM:143095 |
Degcags Syndrome |
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Osteopenia, Bilateral renal hypoplasia, Hypospadias, Abnormal renal cortex morphology, Renal hypo... |
OMIM:619488 |
Kagami-Ogata Syndrome |
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Pulmonary arterial hypertension, Flexion contracture, Pulmonic stenosis |
OMIM:608149 |
Hutchinson-Gilford Progeria Syndrome |
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Myocardial infarction, Osteoarthritis, Reduced bone mineral density, Intracranial hemorrhage, Lim... |
ORPHA:740 |
Radio-Renal Syndrome |
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Severe short stature, Hypoplasia of the radius, Abnormal rib morphology, Abnormality of the elbow... |
ORPHA:3015 |
Erythrocytosis, Familial, 2 |
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Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage |
OMIM:263400 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Episcleritis, Camptodactyly of finger, Elbow flexion contracture, Joint contracture of the 5th fi... |
OMIM:602782 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Sparse scalp hair, Diabetes mellitus, Impaired glucose tolerance, Leukocytosis, Decreased eosinop... |
ORPHA:99889 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
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Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Brain abscess, Fingerp... |
OMIM:600376 |
Geleophysic Dysplasia 2 |
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Tricuspid stenosis, Joint stiffness, Limitation of joint mobility, Respiratory insufficiency, Mit... |
OMIM:614185 |
Carey-Fineman-Ziter Syndrome 1 |
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Pulmonary arterial hypertension, Flexion contracture, Elevated circulating creatine kinase concen... |
OMIM:254940 |
3Q29 Microdeletion Syndrome |
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Joint hyperflexibility, Hypospadias, Pulmonary arterial hypertension, Horseshoe kidney |
ORPHA:65286 |
Cardiomyopathy, Dilated, 1S |
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Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... |
OMIM:613426 |
Myasthenia Gravis |
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Autoimmunity |
OMIM:254200 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
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Prolonged QT interval, Flexion contracture, Stridor, Camptodactyly, Pulmonary arterial hypertension |
OMIM:620029 |
Sturge-Weber Syndrome |
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Conjunctival telangiectasia, Pulmonary embolism |
ORPHA:3205 |
Adams-Oliver Syndrome |
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Gastrointestinal hemorrhage, Pulmonary arterial hypertension, Portal hypertension |
ORPHA:974 |
Scimitar Syndrome |
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Respiratory distress, Recurrent respiratory infections, Left-to-right shunt, Heart block, Congest... |
ORPHA:185 |
Lysosomal Acid Lipase Deficiency |
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Hyponatremia, Hypertriglyceridemia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium co... |
ORPHA:275761 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Osteopenia, Conjugated hyperbilirubinemia, Knee dislocation, Hypoalbuminemia, Tricuspid regurgita... |
OMIM:619534 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
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Recurrent respiratory infections, Hypospadias, Hypoxemia, Pulmonary arterial hypertension, Microp... |
ORPHA:2282 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Wormian bones, Hypospadias, Congestive heart failure, Asthma, Vesicoureteral reflux, Horseshoe ki... |
ORPHA:444077 |
Proteus Syndrome |
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Craniosynostosis, Joint stiffness, Sudden cardiac death, Pulmonary embolism, Long penis, Hip disl... |
ORPHA:744 |
Ctcf-Related Neurodevelopmental Disorder |
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Osteopenia, Craniosynostosis, Phimosis, Sepsis, Recurrent infections, Mitral regurgitation, Joint... |
ORPHA:363611 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
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Recurrent respiratory infections, Left-to-right shunt, Congestive heart failure, Left ventricular... |
ORPHA:99050 |
Familial Thrombocytosis |
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Pulmonary arterial hypertension, Syncope, Cerebral ischemia, Transient ischemic attack |
ORPHA:71493 |
Congenital Alveolar Capillary Dysplasia |
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Respiratory distress, Pulmonary arterial hypertension, Aortic valve stenosis, Hydronephrosis |
ORPHA:210122 |
Adams-Oliver Syndrome 5 |
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Pulmonary arterial hypertension, Pulmonic stenosis |
OMIM:616028 |
Generalized Arterial Calcification Of Infancy |
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Respiratory distress, Abnormality of the knee, Hyperphosphaturia, Transient ischemic attack, Oste... |
ORPHA:51608 |
Laubry-Pezzi Syndrome |
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Aortic regurgitation, Mildly reduced left ventricular ejection fraction, Congestive heart failure... |
ORPHA:99094 |
Lipodystrophy, Familial Partial, Type 7 |
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Orthostatic hypotension, Hypertriglyceridemia, Spontaneous pneumothorax, Polyuria, Hypertension, ... |
OMIM:606721 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
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Hypertension, Tachypnea, Pulmonary arterial hypertension |
OMIM:613834 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Recurrent respiratory infections, Pulmonary arterial hypertension, Unconjugated hyperbilirubinemia |
OMIM:620186 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Neonatal respiratory distress, Hydroureter, Hypospadias, Dilatation of the renal pelvis, Right-to... |
OMIM:265380 |
Juvenile Polyposis Syndrome |
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Gastrointestinal hemorrhage, Brain abscess, Spontaneous, recurrent epistaxis, Transient ischemic ... |
ORPHA:2929 |
Encephalocraniocutaneous Lipomatosis |
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Pulmonary arterial hypertension, Aortic valve stenosis, Osteochondrosis, Osteolysis |
ORPHA:2396 |
Fontaine Progeroid Syndrome |
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Tricuspid regurgitation, Craniosynostosis, Pneumothorax, Respiratory insufficiency, Micropenis, P... |
OMIM:612289 |
Ramon Syndrome |
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Juvenile rheumatoid arthritis, Telangiectasia |
OMIM:266270 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
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Pulmonary arterial hypertension, Neonatal respiratory distress, Recurrent infections |
OMIM:620025 |
Aorta Coarctation |
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Congestive heart failure, Hypertension, Pulmonary arterial hypertension |
ORPHA:1457 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Spontaneous, recurrent epistaxis, Pulmonary arterial hypertension, Bacterial endocarditis |
ORPHA:2072 |
Lymphatic Malformation 13 |
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Pulmonary arterial hypertension, Mitral regurgitation, Chronic lung disease |
OMIM:620244 |
17Q11 Microdeletion Syndrome |
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Osteopenia, Telangiectasia of the skin, Osteoporosis, Osteolysis, Renovascular hypertension, Hype... |
ORPHA:97685 |
Congenital Total Pulmonary Venous Return Anomaly |
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Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:99125 |
Adams-Oliver Syndrome 1 |
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Hypertension, Aortic valve stenosis, Pulmonary arterial hypertension, Pulmonic stenosis |
OMIM:100300 |
Cog1-Cdg |
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Osteopenia, Pulmonary arterial hypertension, Flat acetabular roof |
ORPHA:263508 |
Yunis-Varon Syndrome |
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Wide cranial sutures, Absent sternal ossification, Congenital hip dislocation, Hypospadias, Hip d... |
OMIM:216340 |