| Coxsackievirus B3 Susceptibility |
|
Recurrent viral infections |
OMIM:120050 |
| Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
| 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 |
| 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 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... |
OMIM:615513 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
| Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
| Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
| Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Decreased circulating IgG3 level, Recurre... |
OMIM:619773 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Increas... |
ORPHA:217390 |
| Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
| Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
| Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| Oocyte/Zygote/Embryo Maturation Arrest 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 |
| Tularemia |
|
Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyng... |
ORPHA:3392 |
| Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Skin ulcer, Lymphadenop... |
ORPHA:507 |
| Immunodeficiency 27A |
|
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto... |
OMIM:209950 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk... |
OMIM:616576 |
| Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| Reticular Dysgenesis |
|
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Skin ulcer, Decreased ci... |
ORPHA:33355 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent respiratory infections, Impaired Ig class switch recombination, Lymphadenopathy, Increa... |
OMIM:605258 |
| Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Elevated circulating C-react... |
OMIM:613011 |
| Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decreased circulati... |
ORPHA:397596 |
| Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Asthma, Skin ulcer, Chronic ... |
ORPHA:90280 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... |
OMIM:606843 |
| Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Dysgammaglobulinem... |
OMIM:308240 |
| Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... |
ORPHA:723 |
| Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
| Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ... |
OMIM:608106 |
| Classic Mycosis Fungoides |
|
Hepatomegaly, Skin rash, Eczema, Edema, Splenomegaly, Erythema, Hypopigmented skin patches, Skin ... |
ORPHA:2584 |
| Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
| Immunodeficiency 48 |
|
Recurrent respiratory infections, Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splen... |
OMIM:269840 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Acne, Elevated circulating C-reactive protein concentration, Microcytic anemia, Pyo... |
OMIM:604416 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility |
ORPHA:488191 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Elevated circulating C-reactive protein concentration, Crackles, Nonproductive cough, Leukocytosi... |
ORPHA:2902 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... |
OMIM:150550 |
| Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
OMIM:300604 |
| Pleural Mesothelioma |
|
Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology... |
ORPHA:50251 |
| Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... |
OMIM:312863 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
| Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Ab... |
ORPHA:229717 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Neutrophilia, Pneumonia, Elevated circulating C-reactive protein concentrat... |
ORPHA:36238 |
| Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
| Acute Interstitial Pneumonia |
|
Nodular pattern on pulmonary HRCT, Elevated circulating C-reactive protein concentration, Crackle... |
ORPHA:79126 |
| Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Abnormal lymphocy... |
OMIM:613953 |
| Schnitzler Syndrome |
|
Macule, Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia, Increased c... |
ORPHA:37748 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
| Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Dyspnea, Pneumothorax,... |
OMIM:612387 |
| Follicular Lymphoma |
|
Abnormal peritoneum morphology, Lymphedema, Splenomegaly, Skin nodule, Mediastinal lymphadenopath... |
ORPHA:545 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Splenomegaly, Recurrent upper respiratory tract infections, Enla... |
OMIM:616005 |
| Immunodeficiency 24 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Respiratory tract infection, Decreased circulating IgG2 lev... |
OMIM:615897 |
| Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia... |
OMIM:607594 |
| Hyperprolactinemia |
|
Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
| Boutonneuse Fever |
|
Macule, Petechiae, Maculopapular exanthema, Skin rash, Skin nodule, Cervical lymphadenopathy, Lym... |
ORPHA:83313 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Bronchioli... |
OMIM:617241 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Genital edema, Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglo... |
ORPHA:98813 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
| Aspergillosis |
|
Sinusitis, Cough, Neutropenia, Infectious encephalitis, Chronic pulmonary obstruction, Hepatitis,... |
ORPHA:1163 |
| Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Indurated nodule, Skin nodule, Erythema, Skin ulcer, Atroph... |
ORPHA:542592 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R... |
OMIM:300400 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... |
OMIM:308230 |
| Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgG level, Hypoproteinemia, Generalized edema, Peritoneal effusion, Edema, ... |
ORPHA:90362 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Abnormality of the tonsils, Skin... |
ORPHA:47 |
| Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Skin ulcer, Respir... |
ORPHA:848 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:601859 |
| Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H... |
OMIM:301082 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ... |
OMIM:247800 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Decreased lympho... |
OMIM:603909 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Chronic pulmonary obstruction, Hydrops fetalis,... |
ORPHA:2414 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Elevated circulating C-reactive protein ... |
ORPHA:85414 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
| Avian Influenza |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-... |
ORPHA:454836 |
| Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Bronchiectasis, Decrea... |
OMIM:618459 |
| Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
| Meige Disease |
|
Recurrent bacterial skin infections, Recurrent skin infections, Predominantly lower limb lymphede... |
ORPHA:90186 |
| Focal Segmental Glomerulosclerosis 1 |
|
Edema, Hyperlipidemia, Hypoalbuminemia, Pleural effusion, Ascites, Anemia |
OMIM:603278 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, El... |
OMIM:619644 |
| Prolidase Deficiency |
|
Hepatomegaly, Chronic lung disease, Petechiae, Eczema, Splenomegaly, Asthma, Recurrent pneumonia,... |
OMIM:170100 |
| Histiocytosis, Familial Lipochrome |
|
Increased alpha-globulin, Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... |
OMIM:300853 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... |
OMIM:618944 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... |
ORPHA:411703 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Decreased lymphocyte proliferati... |
OMIM:620282 |
| Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Skin ulcer, Lymphadenopathy, Arthritis,... |
ORPHA:69126 |
| Immunodeficiency 104 |
|
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy... |
OMIM:608971 |
| Pyoderma Gangrenosum |
|
Myositis, Pustule, Skin ulcer, Atrophic scars, Inflammation of the large intestine, Increased cir... |
ORPHA:48104 |
| Pulmonary Nodular Lymphoid Hyperplasia |
|
Nodular pattern on pulmonary HRCT, Follicular hyperplasia, Dyspnea, Mediastinal lymphadenopathy, ... |
ORPHA:60026 |
| Tempi Syndrome |
|
Transudative pleural effusion, Facial erythema, Hypoxemia, Increased circulating IgG level, Incre... |
ORPHA:284227 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
| Fusariosis |
|
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Subcutaneous nodule, Abnormality of th... |
ORPHA:228119 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,... |
OMIM:618982 |
| Immunodeficiency 43 |
|
Decreased circulating IgG level, Hypoproteinemia, Recurrent respiratory infections, Lung abscess,... |
OMIM:241600 |
| Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circulating IgG level, Neutropen... |
ORPHA:443811 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Perianal abscess, Splenomegaly, Lymphadeni... |
OMIM:618935 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Cervical lymphadenopathy, Decreased circulating total IgM, B ly... |
OMIM:618987 |
| Alpha-1-Antitrypsin Deficiency |
|
Hepatocellular carcinoma, Cough, Splenomegaly, Dyspnea, Chronic pulmonary obstruction, Wheezing, ... |
OMIM:613490 |
| Primary Effusion Lymphoma |
|
Abnormal peritoneum morphology, Dyspnea, Pleural effusion, Pericardial effusion |
ORPHA:48686 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Erythematous macule, Generalize... |
OMIM:615559 |
| Q Fever |
|
Respiratory distress, Abnormality of the liver, Cholecystitis, Cough, Infectious encephalitis, He... |
ORPHA:781 |
| Congenital Enterovirus Infection |
|
Respiratory distress, Abnormal macrophage morphology, Skin rash, Fetal ascites, Polyhydramnios, P... |
ORPHA:292 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:612692 |
| Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:613493 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Generalized lymphadenopathy, Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased... |
OMIM:618986 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal center, Increased... |
ORPHA:277 |
| Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... |
OMIM:619707 |
| Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Skin ulcer, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Re... |
OMIM:604571 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio... |
OMIM:613101 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Psoriasiform lesion, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, ... |
ORPHA:169154 |
| Immunodeficiency 32B |
|
Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia,... |
OMIM:226990 |
| Interstitial Lung Disease 2 |
|
Dyspnea, Pulmonary arterial hypertension, Alveolar cell carcinoma, Increased circulating antibody... |
OMIM:178500 |
| Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess |
OMIM:619986 |
| Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Hepatomegaly, Skin rash, Pericardial effusion, Splenomegaly, Dyspnea, Angioedema, U... |
ORPHA:36412 |
| Chronic Granulomatous Disease |
|
Macule, Hepatomegaly, Recurrent respiratory infections, Liver abscess, Sinusitis, Hypermelanotic ... |
ORPHA:379 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Monocytosi... |
OMIM:619281 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Atopic dermatitis, Bronchiectas... |
OMIM:617638 |
| Acute Lung Injury |
|
Respiratory distress, Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneu... |
ORPHA:178320 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Recurrent respiratory infections, Autoimmune thromb... |
OMIM:614470 |
| Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Bronchitis, Knee osteoarthr... |
ORPHA:1304 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Hepatomegaly, Atrophic gastritis, Psoriasiform dermatit... |
OMIM:616100 |
| Polyarteritis Nodosa |
|
Pericarditis, Elevated circulating C-reactive protein concentration, Abnormal lung morphology, Er... |
ORPHA:767 |
| Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... |
OMIM:619632 |
| Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Cryoglobulinemia, Increased circulating beta-2-microglobulin level, Monoclonal immunoglobulin M p... |
ORPHA:209004 |
| Malaria |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hy... |
ORPHA:673 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
| Acquired Purpura Fulminans |
|
Macule, Erythematous macule, Skin rash, Elevated circulating C-reactive protein concentration, Py... |
ORPHA:49566 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... |
OMIM:611926 |
| Aplasia Cutis Congenita |
|
Prolonged bleeding time, Skin ulcer, Congenital localized absence of skin, Aplasia cutis congenit... |
ORPHA:1114 |
| Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Mediastinal lymphadenopathy, ... |
ORPHA:199241 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Increased circulating IgM level, Chronic... |
OMIM:242860 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Free Sialic Acid Storage Disease |
|
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Hydrops fetalis, Skin ulcer, Ascites |
ORPHA:834 |
| Idiopathic Achalasia |
|
Bronchitis, Wheezing, Cough, Decreased prealbumin level, Recurrent aspiration pneumonia |
ORPHA:930 |
| Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti... |
OMIM:618394 |
| Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia... |
OMIM:240500 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Ot... |
OMIM:601457 |
| Dracunculiasis |
|
Recurrent cutaneous abscess formation, Skin rash, Subcutaneous nodule, Skin ulcer, Arthritis |
ORPHA:231 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenom... |
ORPHA:169160 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno... |
OMIM:602450 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... |
OMIM:618806 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe... |
OMIM:233650 |
| Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co... |
OMIM:614700 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased... |
OMIM:235200 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C... |
OMIM:618048 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Purpura, Cryoglobulinemia, Epistaxis, Abnormality of neutrophils... |
ORPHA:33226 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati... |
ORPHA:276 |
| Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas... |
OMIM:618108 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Crackles, Mediastinal lymphadenopathy, Leukocytosis, Atelectasis, Dyspnea, Bronchie... |
OMIM:620233 |
| Lymphatic Malformation 7 |
|
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff... |
OMIM:617300 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Nonimmune hydrops fetalis, Elevated circulating alpha-fetoprotein concentration, Conjugated hyper... |
OMIM:617049 |
| Niemann-Pick Disease, Type B |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Recurrent respirator... |
OMIM:607616 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Liver abscess, Lung abscess, Acute colitis, Dyspnea, Leukocytosis, Hypoalbuminemia, Pleural empye... |
ORPHA:67 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Neutrophilia, Elevated circulating C-reactive prote... |
ORPHA:1302 |
| Neutrophilic Dermatosis, Acute Febrile |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
OMIM:608068 |
| Non-Epidermolytic Palmoplantar Keratoderma |
|
Papule, Erythema, Skin ulcer |
ORPHA:2337 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Acne, Recurrent respiratory in... |
OMIM:300635 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eosinophilia, Eczema, Atelectasis, In... |
ORPHA:2314 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Increased circula... |
OMIM:617099 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... |
ORPHA:436159 |
| Immunodeficiency, Common Variable, 7 |
|
Recurrent respiratory infections, Splenomegaly, Chronic (near) absent circulating IgG4, Reduced i... |
OMIM:614699 |
| Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis, Neutropenia |
OMIM:162700 |
| Kikuchi-Fujimoto Disease |
|
Erythematous macule, Generalized lymphadenopathy, Elevated circulating C-reactive protein concent... |
ORPHA:50918 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto... |
ORPHA:331206 |
| Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ... |
ORPHA:3243 |
| Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo... |
ORPHA:822 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia |
OMIM:610798 |
| Immunodeficiency 50 |
|
Recurrent respiratory infections, Eczema, Decreased circulating antibody level, Neutropenia, Lymp... |
OMIM:300988 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Urticarial plaque, Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto t... |
OMIM:615688 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
| Proliferating Trichilemmal Cyst |
|
Epidermoid cyst, Skin ulcer |
ORPHA:492 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Lymphocytic intersti... |
OMIM:618495 |
| Immunodeficiency 23 |
|
Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Eos... |
OMIM:615816 |
| Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:294 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Abnormal pleura morphology, Incre... |
ORPHA:210136 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Pneumo... |
ORPHA:486 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Erythema, Enterocolitis, Ulcerative colitis, Decreased propor... |
OMIM:614878 |
| Scedosporiosis |
|
Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br... |
ORPHA:449280 |
| Chilblain Lupus 1 |
|
Chilblains, Skin ulcer |
OMIM:610448 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Cough, Abnorm... |
ORPHA:77260 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, Ta... |
ORPHA:542323 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Recurrent skin infections, Asthma, Increased circulating IgE level, Recurrent upper ... |
OMIM:619752 |
| Dermatofibrosarcoma Protuberans |
|
Subcutaneous nodule, Erythema, Skin ulcer |
ORPHA:31112 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia |
ORPHA:141152 |
| Pediatric Systemic Lupus Erythematosus |
|
Myositis, Skin rash, Edema, Discoid lupus rash, Dyspnea, Pericardial effusion, Malar rash, Lympha... |
ORPHA:93552 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Respiratory failure requiring assisted ventilation, R... |
ORPHA:264675 |
| Kaposiform Lymphangiomatosis |
|
Epistaxis, Lymphangioma, Splenomegaly, Pancreatic cysts, Abnormality of the lymphatic system, Abn... |
ORPHA:464329 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Skin ulcer, Hepatosplenomegaly, Erythematous plaque, Panniculitis, Hemophagocytosis, Erythematous... |
ORPHA:86884 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul... |
OMIM:618969 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased... |
OMIM:615285 |
| Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Viral hepatitis, Circulating immune complexes, Splenomegaly, Mediastinal lymphadeno... |
ORPHA:91138 |
| Sarcoidosis, Susceptibility To, 1 |
|
Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Hepa... |
OMIM:181000 |
| Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Recurrent aphthous stoma... |
ORPHA:2688 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Skin rash, Edema, Splenomegaly, Increased circulating ferriti... |
OMIM:603552 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ... |
OMIM:212050 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Xerostomi... |
ORPHA:289390 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration of the esophagus, Ecz... |
OMIM:243700 |
| Immunodeficiency 76 |
|
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia... |
OMIM:619164 |
| Ataxia-Pancytopenia Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... |
ORPHA:2585 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, Pleural effusion, Ascites, O... |
OMIM:614702 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, Recurrent respiratory infections, Eczema, Oligoarthritis, T lymp... |
OMIM:619510 |
| Premature Ovarian Failure 13 |
|
Oligomenorrhea, Female infertility, Amenorrhea |
OMIM:617442 |
| Coccidioidomycosis |
|
Urticarial plaque, Respiratory distress, Abnormality of the spleen, Verrucous papule, Increased c... |
ORPHA:228123 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Aplasia/Hypoplasia of the skin, Pulmonary embolism, Skin ulcer, Thin skin, Purpura |
ORPHA:743 |
| Takayasu Arteritis |
|
Increased inflammatory response, Subcutaneous nodule, Skin ulcer, Arthritis, Pulmonary arterial h... |
ORPHA:3287 |
| Slc35A1-Cdg |
|
Respiratory distress, Prolonged bleeding time, Pneumonia, Giant platelets, Hypoxemia, Neutropenia... |
ORPHA:238459 |
| X-Linked Sideroblastic Anemia |
|
Splenomegaly, Dyspnea, Pallor, Abnormality of iron homeostasis, Anemia |
ORPHA:75563 |
| Juvenile Hyaline Fibromatosis |
|
Subcutaneous nodule, Papule, Aplasia/Hypoplasia of the skin, Skin ulcer |
ORPHA:2028 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... |
OMIM:600802 |
| Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
| Ollier Disease |
|
Lymphangioma, Subcutaneous nodule, Skin ulcer, Anemia |
ORPHA:296 |
| Immunodeficiency 92 |
|
Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-... |
OMIM:619652 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Recurrent respiratory infections, Increased circulating NT-proBNP concentration, El... |
OMIM:232300 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Decreased proportion of... |
OMIM:619126 |
| Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Skin ulcer, Interstitial pneumonitis, Scaling skin, Granulo... |
ORPHA:454831 |
| Common Variable Immunodeficiency |
|
Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Splen... |
ORPHA:1572 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... |
ORPHA:1303 |
| Multiple Myeloma |
|
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... |
ORPHA:29073 |
| Systemic Capillary Leak Syndrome |
|
Pericarditis, Rhinorrhea, Myocarditis, Leukocytosis, Cardiorespiratory arrest, Pedal edema, Cough... |
ORPHA:188 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... |
ORPHA:70589 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Palpebral edema, Edema, Pulmonary embolism, Respiratory tract infection, Minimal change glomerulo... |
ORPHA:567546 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia |
ORPHA:46532 |
| Poems Syndrome |
|
Edema, Respiratory insufficiency due to muscle weakness, Pericardial effusion, Lymphadenopathy, R... |
ORPHA:2905 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Intestinal lymphedema, Edema, Decreased prealbumin level, Lymph... |
ORPHA:90363 |
| Congenital Heart Block |
|
Crackles, Pericardial effusion, Hydrops fetalis, Peripheral edema, Pallor, Pleural effusion, Olig... |
ORPHA:60041 |
| Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... |
OMIM:618042 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Predominantly lower limb lymphedema, Palpebral edema, Abnormality of the lymphatic system, Hydrop... |
ORPHA:69735 |
| Immunodeficiency 61 |
|
Recurrent respiratory infections, Decreased circulating IgG4 level, Agammaglobulinemia, Decreased... |
OMIM:300310 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Recurrent bro... |
OMIM:617303 |
| Malignant Atrophic Papulosis |
|
Constrictive pericarditis, Pleural effusion, Papule |
OMIM:602248 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD... |
OMIM:619846 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Hepatomegaly, Recurrent respiratory infections, Recurrent skin i... |
OMIM:620210 |
| Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... |
OMIM:249100 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Recurrent upper respiratory tract infections, Decreased circulating antibody level, De... |
OMIM:614069 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
| Immunodeficiency 69 |
|
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration... |
OMIM:618963 |
| Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Colitis, Pall... |
ORPHA:3260 |
| Chédiak-Higashi Syndrome |
|
Edema, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morpholog... |
ORPHA:167 |
| Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula... |
OMIM:617765 |
| Simple Cryoglobulinemia |
|
Viral hepatitis, Purpura, Membranoproliferative glomerulonephritis, Pericarditis, Monoclonal elev... |
ORPHA:91139 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Abnormali... |
ORPHA:254864 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Foot osteomyelitis, Acral ulceration, Skin ulcer |
ORPHA:139578 |
| Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility |
OMIM:619938 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
| Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
| C1Q Deficiency 2 |
|
Chilblains, Elevated circulating C-reactive protein concentration, Discoid lupus rash, Atelectasi... |
OMIM:620321 |
| Limited Cutaneous Systemic Sclerosis |
|
Pulmonary arterial hypertension, Hypopigmented skin patches, Skin ulcer, Pulmonary fibrosis |
ORPHA:220402 |
| Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormality of the l... |
ORPHA:1041 |
| Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:306400 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema,... |
OMIM:618282 |
| Livedoid Vasculopathy |
|
Pancytopenia, Abnormal circulating lipid concentration, Superficial dermal perivascular inflammat... |
ORPHA:542643 |
| Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... |
OMIM:193670 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
| Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Edema, Increased circulating IgM level, Arthritis, Conjunctiv... |
ORPHA:448237 |
| Immunodeficiency, Common Variable, 11 |
|
Recurrent respiratory infections, Increased circulating IgE level, Decreased proportion of class-... |
OMIM:615767 |
| Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine... |
ORPHA:906 |
| Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Acute respiratory distress syndrome, Thrombocytopenia, Respiratory insufficiency, P... |
OMIM:617397 |
| Immunodeficiency 13 |
|
Lymphopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiectasis, B... |
OMIM:615518 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf... |
ORPHA:444463 |
| Adult-Onset Still Disease |
|
Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Skin rash, Elevated circul... |
ORPHA:829 |
| Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| Hyperkeratosis Lenticularis Perstans |
|
Papule, Aplasia/Hypoplasia of the skin, Skin ulcer |
ORPHA:409 |
| Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... |
OMIM:615139 |
| Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, ... |
OMIM:608710 |
| Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... |
OMIM:612310 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Recurrent respiratory infections, Palpebral edema, Nonimmune hydrops fetalis, Edema, Polyhydramni... |
OMIM:265300 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Recurrent respiratory infections, Respiratory insufficiency, Hepatomegaly |
ORPHA:139406 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... |
ORPHA:100024 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Hyperammonemia, Dehydration, Anemia, Neutropeni... |
ORPHA:79312 |
| Prolidase Deficiency |
|
Hepatomegaly, Recurrent respiratory infections, Aplasia/Hypoplasia of the skin, Splenomegaly, Ery... |
ORPHA:742 |
| Familial Multiple Nevi Flammei |
|
Hypermelanotic macule, Edema, Pulmonary embolism, Skin ulcer, Nevus flammeus, Papule |
ORPHA:624 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... |
OMIM:615122 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
T lymphocytopenia, Scaling skin, Hemolytic anemia, Psoriasiform dermatitis, Decreased proportion ... |
OMIM:606367 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
| Catastrophic Antiphospholipid Syndrome |
|
Pulmonary embolism, Myocarditis, Skin ulcer, Arthritis, Coombs-positive hemolytic anemia, Microan... |
ORPHA:464343 |
| Reynolds Syndrome |
|
Hepatomegaly, Skin rash, Jaundice, Xerostomia, Skin ulcer, Respiratory insufficiency, Arthritis, ... |
ORPHA:779 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia |
ORPHA:100025 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea... |
OMIM:619705 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Sinusitis, Hypouricemia, Increased circulating guanosine concentrati... |
OMIM:613179 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Nonimmune hydrops fetalis, Red... |
OMIM:266200 |
| Neuropathy, Hereditary Sensory, Type Iic |
|
Acral ulceration |
OMIM:614213 |
| Ige Responsiveness, Atopic |
|
Asthma, Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil coun... |
ORPHA:3226 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr... |
ORPHA:90117 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased serum pyruvate, Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
| Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ... |
OMIM:300755 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Anemia, Restrictive ven... |
OMIM:620296 |
| Acrogeria |
|
Excessive wrinkled skin, Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer |
ORPHA:2500 |
| Immunodeficiency 11A |
|
Recurrent respiratory infections, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased... |
OMIM:615206 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Recurrent respiratory infections, Myositis, Skin rash, Elevated circulating C-reactive protein co... |
OMIM:615934 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Laryngeal ed... |
ORPHA:100057 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
| Lichen Planopilaris |
|
Hypopigmented skin patches, Skin ulcer, Hepatitis, Dermal atrophy, Papule |
ORPHA:525 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Increased circulating interleukin 6 concentration, Edema, Pallor, Hypocalcemia, Abnormality of ch... |
ORPHA:544482 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis... |
OMIM:242700 |
| Nocardiosis |
|
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Subcutaneous nodule, Con... |
ORPHA:31204 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hypertriglyceridemia, Skin rash, Hepatomegaly |
OMIM:619175 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Erythema, Increased circulating IgE ... |
OMIM:147060 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Severe B lymphocytopenia, Sinusitis, Hepatomegaly, Autoimmune thrombocytopenia, Decreased circula... |
OMIM:102700 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
| Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Uveitis, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallb... |
ORPHA:171 |
| Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr... |
OMIM:616843 |
| Sézary Syndrome |
|
Hepatomegaly, Abnormal pleura morphology, Abnormal immunoglobulin level, Edema, Splenomegaly, Dry... |
ORPHA:3162 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyhydramnios, Pericardial effusion, Recurrent upper respira... |
OMIM:618183 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the lung, Neoplasm of the liver, Skin ulcer, Lymphadenopathy |
ORPHA:424019 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune... |
ORPHA:572 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concen... |
ORPHA:36234 |
| Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Abnormal circulating inter... |
ORPHA:70578 |
| Granulomatosis With Polyangiitis |
|
Sinusitis, Elevated circulating C-reactive protein concentration, Periorbital edema, Granulomatos... |
ORPHA:900 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Respiratory insufficien... |
OMIM:614399 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Pustule, Increased circulating IgE level, Recurrent pneumonia, Dehydration, Recur... |
OMIM:616069 |
| Aplasia Cutis-Myopia Syndrome |
|
Aplasia cutis congenita, Skin ulcer |
ORPHA:1117 |
| Leukocyte Adhesion Deficiency, Type I |
|
Osteomyelitis, Elevated circulating C-reactive protein concentration, Leukocytosis, Skin ulcer, C... |
OMIM:116920 |
| Bone Marrow Failure Syndrome 4 |
|
Recurrent respiratory infections, Eczema, Decreased circulating antibody level, Anemia, Leukopeni... |
OMIM:618116 |
| Trimethylaminuria |
|
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia |
OMIM:602079 |
| Glycoprotein Storage Disease |
|
Splenomegaly, Gout |
OMIM:232900 |
| Acute Myelomonocytic Leukemia |
|
Eosinophilia, Dyspnea, Leukocytosis, Anemia, Pallor, Thrombocytopenia |
ORPHA:517 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema |
OMIM:618773 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
| Immunodeficiency 22 |
|
Pericarditis, Abscess, Recurrent upper respiratory tract infections, Anemia, Decreased circulatin... |
OMIM:615758 |
| Juvenile Dermatomyositis |
|
Calcinosis, Myositis, Pericarditis, Skin rash, Elevated circulating creatine kinase concentration... |
ORPHA:93672 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Sideroblastic anemia, Hepatomegaly, Respiratory insufficiency due to muscle... |
OMIM:613561 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Osteomyelitis, Penetrating foot ulcers, Skin ulcer, Cough |
ORPHA:36386 |
| Buerger Disease |
|
Skin ulcer |
ORPHA:36258 |
| Erythema Elevatum Diutinum |
|
Skin vesicle, Skin nodule, Increased circulating antibody level, Skin rash |
ORPHA:90000 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:301081 |
| Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Hypercalcemia, Subcutaneous nodule, Skin ulcer, Neoplasm of the lung |
ORPHA:2591 |
| Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Dextrocardia, Female infertility |
OMIM:617577 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Dyspnea, Tachypnea, Abnormal pulmonary int... |
OMIM:616414 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natu... |
OMIM:615214 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:615234 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... |
ORPHA:540 |
| Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c... |
OMIM:615482 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia |
OMIM:118830 |
| Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... |
ORPHA:331235 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepa... |
ORPHA:79124 |
| Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Chronic r... |
OMIM:612444 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Edema, Dyspnea, Atelectasis, Tachypnea, Pulm... |
OMIM:267450 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Prolonged bleeding time, Increased RBC distribution width, Pet... |
OMIM:314050 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Elevated circulating C-reactive protein concentration, Abnormal lymphocyte pr... |
OMIM:619573 |
| Ovarian Fibroma |
|
Mesenteric cyst, Peritonitis, Ascites, Pleural effusion |
ORPHA:314473 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Abnormal lung morphology, Tachypnea, Atelectasis, Whee... |
ORPHA:60032 |
| Cernunnos-Xlf Deficiency |
|
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... |
ORPHA:169079 |
| Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... |
OMIM:603554 |
| Lassa Fever |
|
Facial edema, Dyspnea, Jaundice, Increased circulating IgM level, Conjunctivitis, Cough |
ORPHA:99824 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Brain abscess, Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ... |
OMIM:610910 |
| Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Increased circulating interleukin 6 concentration, Petechiae, Pneumonia, Ep... |
ORPHA:340 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Hepatomegaly, Nonimmune hydrops fetalis, Portal hypertension, Polyhydramnio... |
ORPHA:367 |
| Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... |
ORPHA:60033 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Subcutaneous nodule, Increased circulating IgE level, Atrophic scars, Dermal atrophy, Skin plaque... |
ORPHA:89843 |
| Gorham-Stout Disease |
|
Osteomyelitis, Edema, Lymphangioma, Pleural effusion, Rhinorrhea |
ORPHA:73 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo... |
ORPHA:911 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Eczema, Eosinophilia, Keratitis, Increased circulating IgE leve... |
OMIM:618523 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Abnormal blood ion concentration, Iron deficiency anemia, Tubuloi... |
ORPHA:37042 |
| Toxic Epidermal Necrolysis |
|
Macule, Respiratory distress, Recurrent respiratory infections, Abnormal pleura morphology, Cough... |
ORPHA:537 |
| Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Epistaxis, Per... |
ORPHA:727 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Skin rash, Elevated circulating C-reactive protein concentration, Diffuse alveolar ... |
OMIM:616050 |
| Immunodeficiency 96 |
|
Eczema, Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T... |
OMIM:619774 |
| Asthma, Short Stature, And Elevated Iga |
|
Asthma, Increased circulating IgA level |
OMIM:208600 |
| Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Recurrent respiratory infections, Recurrent otitis media, Bronchiolitis |
OMIM:615993 |
| Noonan Syndrome 8 |
|
Eczema, Polyhydramnios, Palmoplantar cutis laxa, Pleural effusion, Left ventricular hypertrophy |
OMIM:615355 |
| Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... |
OMIM:237800 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Hepatomegaly, Hyperammonemia, Anemia, Neutropenia, Pancreatitis, Thrombocyt... |
ORPHA:289916 |
| Drug-Induced Lupus Erythematosus |
|
Pericarditis, Petechiae, Elevated circulating creatine kinase concentration, Elevated circulating... |
ORPHA:231111 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:617388 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Absence of ly... |
OMIM:608184 |
| Hennekam Syndrome |
|
Recurrent respiratory infections, Lymphedema, Pericardial effusion, Splenomegaly, Pulmonary lymph... |
ORPHA:2136 |
| Chronic Mucocutaneous Candidiasis |
|
Recurrent respiratory infections, Skin rash, Erythema, Hepatitis, Skin ulcer, Cheilitis, Cough, P... |
ORPHA:1334 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Hepatomegaly, Neutrophilia, Osteomyelitis, Abscess, Elevated circulating C-... |
OMIM:612852 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... |
ORPHA:2643 |
| Cryptococcosis |
|
Respiratory distress, Lymphoid leukemia, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary H... |
ORPHA:1546 |
| Peeling Skin Syndrome 1 |
|
Eosinophilia, Asthma, Increased circulating IgE level, Scaling skin, Erythroderma |
OMIM:270300 |
| Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Pneumonia, Edema, Splenomegaly, Leukocytosis, Thyroiditis, Dry skin, ... |
ORPHA:39041 |
| Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Mediastinal lymphadenopathy, Hypersensitivity pneumonitis, Dy... |
ORPHA:133 |
| Felty Syndrome |
|
Sinusitis, Subcutaneous nodule, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology... |
ORPHA:47612 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Pleural effusion, Asthma, Recurrent respiratory infections, Edema |
OMIM:618606 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Nonimmune hydro... |
OMIM:619313 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Elevated circulating C-reactive protein concentration, Erythema nodosum, Splenomegaly,... |
OMIM:611762 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Sinusitis, Recurrent skin infect... |
ORPHA:169105 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Skin dimple, Mildly eleva... |
ORPHA:1143 |
| Mogs-Cdg |
|
Respiratory distress, Hepatomegaly, Hypoventilation, Pulmonary edema, Apnea, Generalized edema, E... |
ORPHA:79330 |
| Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... |
OMIM:301000 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Myositis, Hypertriglyceridemia, Sinusitis, Skin rash, Periorbital edema, Splenomega... |
OMIM:617591 |
| Sarcoidosis |
|
Increased T cell count, Subcutaneous nodule, Abnormal lung morphology, Uveitis, Leukopenia, Tubul... |
ORPHA:797 |
| Lymphangioleiomyomatosis |
|
Macule, Recurrent respiratory infections, Lymphedema, Atelectasis, Dyspnea, Abnormality of the ly... |
ORPHA:538 |
| Zygomycosis |
|
Fasciitis, Sinusitis, Periorbital edema, Acute infectious pneumonia, Colitis, Cough, Neutropenia,... |
ORPHA:73263 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Increased ... |
ORPHA:158061 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septal defect, Hyp... |
OMIM:620135 |
| Riddle Syndrome |
|
Generalized lymphadenopathy, Pneumonia, Elevated circulating alpha-fetoprotein concentration, Bro... |
ORPHA:420741 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Edema, Normochromic anemia, Anasarca, Hypoalbuminemia, Pleural effusion, Thrombocytopenia |
OMIM:254900 |
| Attenuated Chédiak-Higashi Syndrome |
|
Recurrent respiratory infections, Epistaxis, Skin ulcer |
ORPHA:352723 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hydrops fetalis, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B ce... |
ORPHA:3261 |
| Sepsis In Premature Infants |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Petechiae, Abnormal mucociliary ... |
ORPHA:90051 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Respiratory distress |
OMIM:614741 |
| Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... |
ORPHA:555905 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum... |
OMIM:615952 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Recurrent respiratory infections, Hepatosplenomegaly, Anemia, Leukopenia, I... |
ORPHA:505248 |
| Ciliary Dyskinesia, Primary, 44 |
|
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... |
OMIM:618781 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I... |
ORPHA:183675 |
| Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Dyspnea, Reticulocytopenia, Lymphadenopathy, Pallor, Bone mar... |
ORPHA:101096 |
| Kimura Disease |
|
Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia |
ORPHA:482 |
| Cutaneous Mastocytoma |
|
Macule, Maculopapular exanthema, Hypermelanotic macule, Hyperpigmented papule, Dyspnea, Skin nodu... |
ORPHA:79455 |
| Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Portal hypertension, Increased circulating IgA level, C... |
ORPHA:186 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:254210 |
| Pulmonary Arteriovenous Malformation |
|
Brain abscess, Liver abscess, Epistaxis, Dyspnea, Hypoxemia, Iron deficiency anemia, Pleural empy... |
ORPHA:2038 |
| Blau Syndrome |
|
Xerostomia, Abnormality of the liver, Posterior uveitis, Papule, Retrobulbar optic neuritis, Skin... |
ORPHA:90340 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... |
OMIM:619868 |
| Sea-Blue Histiocytosis |
|
Hepatomegaly, Edema, Splenomegaly, Thrombocytopenia, Subcutaneous nodule, Mediastinal lymphadenop... |
ORPHA:158029 |
| Brooke-Spiegler Syndrome |
|
Skin-colored papule, Skin nodule, Skin ulcer, Nodular changes affecting the eyelids |
ORPHA:79493 |
| Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Nonimmune hydrops fetalis, Thyroid lymphangiectasia, Lymphedema, Pe... |
OMIM:235510 |
| Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... |
OMIM:613807 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hepatic steatosis, Respiratory distress |
ORPHA:26792 |
| Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... |
OMIM:618695 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt... |
ORPHA:231401 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Pulmonary arterial hypertension, Eczema, Thrombocytopenia |
OMIM:619751 |
| Wild Type Attr Amyloidosis |
|
Hepatomegaly, Abnormal pulmonary interstitial morphology, Pedal edema, Pleural effusion, Pulmonar... |
ORPHA:330001 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Cardiomegaly, Hydrops fetalis, Pulmonary hypoplasia, Pleural effusion, Ascites |
OMIM:616897 |
| Graft Versus Host Disease |
|
Acute hepatitis, Fasciitis, Myositis, Maculopapular exanthema, Cutaneous sclerotic plaque, Pneumo... |
ORPHA:39812 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Bro... |
OMIM:619381 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Petechiae, Recurrent skin infections, Epistaxis, Sple... |
OMIM:612840 |
| Angiostrongyliasis |
|
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... |
ORPHA:74 |
| Immunodeficiency 19 |
|
Recurrent respiratory infections, T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis... |
OMIM:615617 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Periodontitis, Recurrent otitis media, Reduction of neutrophil motility,... |
OMIM:266265 |
| Griscelli Syndrome |
|
Hepatomegaly, Abnormal circulating lipid concentration, Abnormality of neutrophils, Splenomegaly,... |
ORPHA:381 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Splenomegaly, Pallor, Increased total bilirubin, Exertional dyspnea |
ORPHA:90037 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Impotence, Cardiomegaly |
ORPHA:85447 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... |
OMIM:263000 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:605809 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Osteoarthritis, Pericardial effusion, Ab... |
ORPHA:77259 |
| Immunodeficiency 58 |
|
Colitis, Scaling skin, Chronic otitis media, Recurrent cutaneous abscess formation, Psoriasiform ... |
OMIM:618131 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Respiratory distress, Hyperammonemia, Dehydration, Leukopen... |
OMIM:251000 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice |
OMIM:179700 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Lymphedema, Increased circulating IgA level, Reduced natural killer cell ac... |
OMIM:300291 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Skin ulcer, Erythroderma |
ORPHA:312 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
| Dehydrated Hereditary Stomatocytosis |
|
Edema, Portal vein thrombosis, Polycythemia, Congenital hemolytic anemia, Abnormal blood potassiu... |
ORPHA:3202 |
| Immunodeficiency 35 |
|
Recurrent respiratory infections, Increased circulating IgE level |
OMIM:611521 |
| Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Hydrops fetalis, P... |
ORPHA:163596 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress |
OMIM:616341 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Lymphedema, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperlipidemia, ... |
OMIM:214900 |
| Chronic Graft Versus Host Disease |
|
Pancytopenia, Fasciitis, Dyspnea, Wheezing, Erythema, Pneumothorax, Intermittent generalized eryt... |
ORPHA:99921 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Mediastinal lymphad... |
ORPHA:91359 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundi... |
OMIM:194380 |
| Crimean-Congo Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Leukopenia, Increased circulating IgG level, ... |
ORPHA:99827 |
| Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
| Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:613313 |
| Dyskeratosis Congenita |
|
Macule, Hepatomegaly, Neoplasm of the pancreas, Aplasia/Hypoplasia of the skin, Recurrent respira... |
ORPHA:1775 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Dyspnea, Xerostomia, Skin ulcer, Arthritis, Pulmonary fibrosis, Pulmonary arterial hypertension |
ORPHA:220393 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Edema, Leukopenia, Hypoalbuminemia, Infectious encephalitis, Hyponatremia, Hepatomegaly, Hepatosp... |
OMIM:603553 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Polyhydramnios, Fetal ascites, Splenomegaly, Hydrops fetalis |
OMIM:619462 |
| Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... |
OMIM:615451 |
| Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Multiple pulmonary cysts, Pulmonary cyst, Eosinophi... |
ORPHA:400 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... |
OMIM:300908 |
| Ovarian Fibrothecoma |
|
Pleural effusion, Peritonitis, Ascites |
ORPHA:314478 |
| American Trypanosomiasis |
|
Hepatomegaly, Skin rash, Edema, Periorbital edema, Splenomegaly, Localized skin lesion, Dyspnea, ... |
ORPHA:3386 |
| Dermatoosteolysis, Kirghizian Type |
|
Keratitis, Osteoarthritis, Aplasia/Hypoplasia of the skin, Skin ulcer |
ORPHA:1657 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Dyspnea, Cough, Left ve... |
ORPHA:86812 |
| Malakoplakia |
|
Inflammatory abnormality of the skin, Skin rash, Follicular hyperplasia, Orchitis, Urinary bladde... |
ORPHA:556 |
| Hypoglossia With Situs Inversus |
|
Asplenia, Upper airway obstruction, Respiratory distress, Polysplenia |
OMIM:612776 |
| Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Tuberous xanthoma, Thrombocytopenia, Splenomegaly, ... |
OMIM:210250 |
| Hepatoportal Sclerosis |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port... |
ORPHA:64743 |
| Ciliary Dyskinesia, Primary, 39 |
|
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... |
OMIM:618254 |
| Perching Syndrome |
|
Respiratory distress |
OMIM:617055 |
| Kasabach-Merritt Syndrome |
|
Respiratory distress, Reticulocytosis, Petechiae, Thrombocytopenia, Abnormal lymphatic vessel mor... |
ORPHA:2330 |
| Hellp Syndrome |
|
Hemolytic anemia, Generalized edema, Decreased mean corpuscular hemoglobin concentration, Prolong... |
ORPHA:244242 |
| Behçet Disease |
|
Increased inflammatory response, Myositis, Pericarditis, Acne, Pulmonary embolism, Orchitis, Sple... |
ORPHA:117 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis |
OMIM:612126 |
| Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Osteomyelitis, Skin ulcer |
ORPHA:2218 |
| Immunodeficiency 40 |
|
Hepatomegaly, Respiratory tract infection, Recurrent pneumonia, Eosinophilic granuloma, T lymphoc... |
OMIM:616433 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Macule, Skin rash, Eosinophilia, Pustule, Dyspnea, Myocarditis, Erythema, Angioedema, Hepatitis, ... |
ORPHA:139402 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Polyhydramnios |
OMIM:300580 |
| Laryngotracheal Angioma |
|
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
| Plague |
|
Respiratory distress, Hepatomegaly, Chapped lip, Skin rash, Edema, Erythema nodosum, Splenomegaly... |
ORPHA:707 |
| Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki... |
OMIM:616828 |
| Flynn-Aird Syndrome |
|
Dermal atrophy, Skin ulcer |
ORPHA:2047 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... |
ORPHA:79127 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath... |
OMIM:301078 |
| Leptospirosis |
|
Respiratory distress, Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Lympha... |
ORPHA:509 |
| Lujo Hemorrhagic Fever |
|
Respiratory distress, Generalized edema, Maculopapular exanthema, Skin rash, Elevated circulating... |
ORPHA:319213 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome... |
OMIM:619463 |
| Asbestos Intoxication |
|
Edema, Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on... |
ORPHA:2302 |
| Dermatomyositis |
|
Recurrent respiratory infections, Pericarditis, Aplasia/Hypoplasia of the skin, Abnormal eosinoph... |
ORPHA:221 |
| Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... |
ORPHA:2968 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Eczema, Tachypnea, Hyperammonemia, Keratoconjunctivitis, Thrombocytopenia, ... |
ORPHA:79242 |
| Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells, Recurrent respiratory infections, Bronchiectasis |
OMIM:608957 |
| Erdheim-Chester Disease |
|
Osteomyelitis, Skin rash, Retroperitoneal fibrosis, Dyspnea, Abnormal pulmonary interstitial morp... |
ORPHA:35687 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Neonatal respiratory distress, Elevated circulating creatine kinase concent... |
OMIM:615042 |
| Netherton Syndrome |
|
Hypernatremic dehydration, Recurrent respiratory infections, Recurrent skin infections, Eczema, A... |
OMIM:256500 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating fe... |
OMIM:616860 |
| Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... |
OMIM:271500 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Elevated circulating creatinine concentration, Pulmonary hypoplasia, Left v... |
OMIM:616733 |
| Giant Cell Arteritis |
|
Pericarditis, Epistaxis, Abnormal pleura morphology, Mediastinal lymphadenopathy, Recurrent phary... |
ORPHA:397 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy, Hyperalaninemia, Respiratory distress |
OMIM:616974 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Pancytopenia, Aplastic anemia, Crackles, Mediastinal lymphadenopathy, Dyspnea, Usual interstitial... |
OMIM:614742 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Polyhydramnios, Splenomegaly, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Ascites... |
ORPHA:1046 |
| Rigid Spine Syndrome |
|
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency |
ORPHA:97244 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, Hyperbilirubine... |
OMIM:620010 |
| Mixed Connective Tissue Disease |
|
Myositis, Xerostomia, Leukopenia, Prolonged bleeding time, Hemolytic anemia, Hepatomegaly, Medias... |
ORPHA:809 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Splenomegaly, Elevated circulating creatine kinase concentration, Hepatomegaly |
OMIM:608799 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Genera... |
OMIM:267700 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:596 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... |
OMIM:616726 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemic pallor, Anemia of inad... |
ORPHA:86839 |
| Immunoglobulin A Vasculitis |
|
Macule, Episcleritis, Skin rash, Edema, Pustule, Orchitis, Angioedema, Erythema, Skin ulcer, Rest... |
ORPHA:761 |
| Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ... |
ORPHA:1451 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
| Japanese Encephalitis |
|
Hyponatremia, Respiratory distress, Neutrophilia, Pulmonary edema, Increased circulating IgM leve... |
ORPHA:79139 |
| Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615504 |
| N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Hyperglutamatemia, Hyperammonemia |
OMIM:237310 |
| Immunodeficiency, Common Variable, 10 |
|
Psoriasiform dermatitis, Asthma, Recurrent pneumonia, Recurrent viral upper respiratory tract inf... |
OMIM:615577 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnormal intrahepatic bile duct morph... |
ORPHA:562639 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Facial edema, Splenomegaly, Increased circulating ferritin co... |
OMIM:618398 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Skin nodule, Hepatosplenomegaly, Respiratory fa... |
ORPHA:2590 |
| Systemic Sclerosis |
|
Pericarditis, Osteomyelitis, Recurrent skin infections, Elevated circulating creatine kinase conc... |
ORPHA:90291 |
| Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Aspiration pneumonia |
OMIM:609528 |
| Malignant Atrophic Papulosis |
|
Peritonitis, Respiratory failure, Arteritis, Dermal atrophy, Pleural effusion, Papule |
ORPHA:679 |
| Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Foot osteomyelitis, Hypotriglyceridemia, Decreased circulating apolipoprotein B concentration, Ac... |
OMIM:256840 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Decreased circulating anti... |
OMIM:601495 |
| Autoimmune Hepatitis |
|
Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Splenomegaly, Fulminant hepatitis... |
ORPHA:2137 |
| Igg4-Related Aortitis |
|
Increased inflammatory response, Increased circulating IgG4 level, Elevated circulating C-reactiv... |
ORPHA:449400 |
| Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Decreased circulating complement C4 concentra... |
ORPHA:90060 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneumonia, Atypical or p... |
ORPHA:83471 |
| Atelis Syndrome 1 |
|
Eczema, Decreased lymphocyte proliferation in response to anti-CD3, Bronchiectasis, Dry skin, Ane... |
OMIM:620184 |
| Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... |
OMIM:619436 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
OMIM:610539 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Neoplasm of the lung, Erythema, Skin ulcer, Skin fissure |
ORPHA:659 |
| Calciphylaxis |
|
Hyperphosphatemia, Skin ulcer |
ORPHA:280062 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati... |
ORPHA:70588 |
| Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomeg... |
OMIM:212140 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Cardiomegaly, Crackles, Diff... |
ORPHA:99931 |
| Farber Lipogranulomatosis |
|
Hepatomegaly, Splenomegaly, Subcutaneous nodule, Respiratory insufficiency, Arthritis, Joint swel... |
OMIM:228000 |
| Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... |
OMIM:619611 |
| Immunodeficiency 12 |
|
Skin rash, Abnormal lymphocyte count, Decreased lymphocyte proliferation in response to anti-CD3,... |
OMIM:615468 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... |
OMIM:300972 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Hepatomegaly, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, A... |
ORPHA:348 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Edema, Lymphedema, Subcutaneous nodule, Skin ulcer, Pleural effusion, Panniculitis, Scaling skin,... |
ORPHA:2526 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:300991 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Osteomyelitis, Skin ulcer |
OMIM:613640 |
| Ciliary Dyskinesia, Primary, 7 |
|
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... |
OMIM:611884 |
| Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas... |
ORPHA:51636 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Abnormal circulating interleukin concentration, Lymphadenitis, Salmonella osteomyelitis, Pneumonia |
ORPHA:319552 |
| Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Lymphadenopathy, Stridor, Hashimoto thyr... |
ORPHA:97285 |
| Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
| Ring Chromosome 22 Syndrome |
|
Pleural effusion, Edema, Lymphedema |
ORPHA:1446 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Osteomyelitis, Acral ulceration |
OMIM:613115 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
| Sneddon Syndrome |
|
Decreased circulating total IgM, Atrophic scars, Lymphopenia |
OMIM:182410 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
| Rift Valley Fever |
|
Skin rash, Jaundice, Hepatitis, Uveitis, Macular edema, Anemia, Increased circulating IgG level, ... |
ORPHA:319251 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of margi... |
OMIM:619375 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
| Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Eczema, Erythema nodosum, Intermittent generalized erythe... |
OMIM:186580 |
| Ovarian Hyperstimulation Syndrome |
|
Generalized edema, Enlarged polycystic ovaries, Peripheral edema, Pleural effusion, Ascites, Pulm... |
ORPHA:64739 |
| Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Lymphadenopathy, Stridor, Neoplasm of th... |
ORPHA:142 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
| Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
| Immunodeficiency 54 |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Respiratory insufficiency, Lymphade... |
OMIM:609981 |
| Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Arthritis, Increased se... |
OMIM:602390 |
| Harderoporphyria |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Increased circulating ferritin con... |
OMIM:618892 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Apnea, Cardiomegaly, Pericardial effusion, Anasarca, Peripheral edema, Pleu... |
OMIM:261740 |
| Idiopathic Pulmonary Fibrosis |
|
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f... |
ORPHA:2032 |
| Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Maculopapular exanthema, Dyspnea, Hepatitis, Leukopenia, Increased circulatin... |
ORPHA:319218 |
| Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Respiratory distress, Hyperammonemia, Dehydra... |
OMIM:251110 |
| Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hypertension, Thrombo... |
ORPHA:824 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... |
OMIM:307200 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... |
OMIM:606763 |
| Adult-Onset Nemaline Myopathy |
|
Respiratory insufficiency due to muscle weakness, Reduced vital capacity, Paraproteinemia, Mildly... |
ORPHA:171442 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
| Netherton Syndrome |
|
Recurrent respiratory infections, Skin rash, Eczema, Asthma, Increased circulating IgE level, Deh... |
ORPHA:634 |
| Legionnaires Disease |
|
Hyponatremia, Pericarditis, Abnormal pleura morphology, Splenomegaly, Jaundice, Abnormal lung mor... |
ORPHA:549 |
| Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Recurrent pharyngitis, Respiratory insuff... |
ORPHA:108 |
| Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615505 |
| Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... |
OMIM:615481 |
| Capillary Malformation-Arteriovenous Malformation |
|
Macule, Hypopigmented macule, Epistaxis, Nonimmune hydrops fetalis, Lymphedema, Abnormality of th... |
ORPHA:137667 |
| Melioidosis |
|
Brain abscess, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Respiratory tract infe... |
ORPHA:31202 |
| Ciliary Dyskinesia, Primary, 3 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:608644 |
| Galactosemia Iii |
|
Splenomegaly, Jaundice, Hypergalactosemia, Hepatomegaly |
OMIM:230350 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hepatomegaly, Polyhydramnios, Splenomegaly, Hydrops fetalis, Aplasia/Hypoplasia of the lungs |
ORPHA:2204 |
| Neonatal Alloimmune Neutropenia |
|
Pneumonia, Jaundice, Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
| Immunodeficiency 56 |
|
Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Ch... |
OMIM:615207 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Neonatal respiratory distress, Thymus hyperplasia, Chylothorax, Polyhydramnios |
OMIM:619036 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Restrictive ventilatory defect, Bone marrow h... |
OMIM:619767 |
| Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... |
ORPHA:261529 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Inflammatory abnormality of the skin, Elevated circulating cr... |
ORPHA:26793 |
| Amoebiasis Due To Free-Living Amoebae |
|
Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Subcutaneous nodule, Cerebral edema, ... |
ORPHA:68 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| Gray Platelet Syndrome |
|
Splenomegaly, Epistaxis, Thrombocytopenia |
ORPHA:721 |
| Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Polyhydramnios, Edema |
ORPHA:1423 |
| Infantile Systemic Hyalinosis |
|
Subcutaneous nodule, Aplasia/Hypoplasia of the thymus, Skin ulcer, Lymphedema |
ORPHA:2176 |
| Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Pulmonary hypoplas... |
OMIM:620369 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Hepatomegaly, Petechiae, Apnea, Polyhydramnios, Cardiomegaly, Nonimmune hyd... |
OMIM:608013 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Sinusitis, Elevated circulating alpha-fetoprotein concentration,... |
OMIM:208900 |
| Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... |
ORPHA:70587 |
| Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... |
ORPHA:1164 |
| Ciliary Dyskinesia, Primary, 11 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:612649 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress |
OMIM:617977 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Palpebral edema, Increased circulating IgG4 level, Increased circulating IgA level, Ret... |
ORPHA:79078 |
| Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Respiratory insufficiency, Hepatosplenomegaly, Thromboc... |
OMIM:610333 |
| Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Increased circulating antibody level |
ORPHA:411593 |
| Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Decreased n... |
OMIM:617092 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
| Familial Keratoacanthoma |
|
Papule, Subcutaneous nodule, Skin ulcer |
ORPHA:493 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Increased circulating IgE ... |
OMIM:304790 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induc... |
OMIM:153670 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Increased circulating IgA level, Peritonitis, Erythema, Lymphadenopathy, Arthritis,... |
ORPHA:343 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Macule, Fasciitis, Myositis, Pericarditis, Hypermelanotic macule, Elevated circulating C-reactive... |
ORPHA:32960 |
| Bloom Syndrome |
|
Bronchitis, Uveitis, Otitis media, Decreased circulating IgG level, Decreased proportion of CD4-p... |
ORPHA:125 |
| Alkuraya-Kucinskas Syndrome |
|
Pericardial effusion, Pleural effusion, Edema |
OMIM:617822 |
| Thrombocytopenia 1 |
|
Eczema, Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased me... |
OMIM:313900 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Pancytopenia, Abnormality of the spleen, Splenomegaly, Abnormal... |
ORPHA:2072 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Recurrent respiratory infections, Keratoconjunctivitis sicca, Skin ulcer |
ORPHA:1806 |
| Sialidosis Type 2 |
|
Hepatomegaly, Dyspnea, Splenomegaly, Hydrops fetalis, Pedal edema, Ascites |
ORPHA:87876 |
| Adult Polyglucosan Body Disease |
|
Skin ulcer |
ORPHA:206583 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hyperlipidemia, Lymphadenopathy, Hemophagocyt... |
ORPHA:79477 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Skin dimple, Thin skin, Oligohydramnios |
ORPHA:261304 |
| Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Aplasia/Hypoplasia of the skin, Edema, Splenomegaly, Subcutaneous nodule, Erythema,... |
ORPHA:33577 |
| Erythrocytosis, Familial, 1 |
|
Splenomegaly, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Exertion... |
OMIM:133100 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
| Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615500 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Inte... |
ORPHA:95430 |
| Ovarian Dysgenesis 3 |
|
Primary amenorrhea, Female infertility |
OMIM:614324 |
| Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Eruptive xanthomas, Increased circulating chylo... |
OMIM:207750 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Hepatomegaly, Tachypnea, Respiratory insufficiency, Respiratory failure, Hy... |
OMIM:614299 |
| Evans Syndrome |
|
Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Dyspnea, Jaundice, Neutropen... |
ORPHA:1959 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Ciliary Dyskinesia, Primary, 32 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:616481 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
| Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... |
OMIM:205400 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress |
OMIM:300934 |
| Letterer-Siwe Disease |
|
Seborrheic dermatitis, Dyspnea, Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Stomat... |
OMIM:246400 |
| Yellow Nail Syndrome |
|
Recurrent respiratory infections, Sinusitis, Lymphedema, Biliary tract neoplasm, Dyspnea, Bronchi... |
ORPHA:662 |
| Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal atrial arrangement, Atrial situs ambiguous, Female infertility, Situs ... |
ORPHA:244 |
| Farber Disease |
|
Respiratory distress, Intrahepatic cholestasis with episodic jaundice, Nodular pattern on pulmona... |
ORPHA:333 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Foot osteomyelitis, Osteomyelitis, Acral ulceration |
OMIM:162400 |
| Congenital Analbuminemia |
|
Edema, Facial edema, Hyperlipidemia, Pedal edema, Increased alpha-globulin, Hypoalbuminemia, Incr... |
ORPHA:86816 |
| Poikiloderma With Neutropenia |
|
Skin rash, Elevated circulating creatine kinase concentration, Edema, Splenomegaly, Recurrent bro... |
OMIM:604173 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Apnea, Bronchiectasis, Hyperammonemia, Respiratory insufficiency, Aspiration pneumonia, Neutropen... |
OMIM:618253 |
| Caffey Disease |
|
Increased circulating antibody level, Respiratory insufficiency |
ORPHA:1310 |
| Alg12-Cdg |
|
Hyponatremia, Recurrent respiratory infections, Redundant skin, Partial absence of specific antib... |
ORPHA:79324 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Impaired T cell f... |
OMIM:614576 |
| Acrodermatitis Enteropathica |
|
Pustule, Erythema, Cheilitis, Skin ulcer, Conjunctivitis, Dry skin, Blepharitis |
ORPHA:37 |
| Tick-Borne Encephalitis |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Leukopenia, Increased circul... |
ORPHA:297 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otiti... |
OMIM:244400 |
| Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
| Werner Syndrome |
|
Aplasia/Hypoplasia of the skin, Pulmonary artery stenosis, Lack of skin elasticity, Skin ulcer, N... |
ORPHA:902 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| B4Galt1-Cdg |
|
Hepatomegaly, Inflammatory abnormality of the skin, Redundant neck skin, Elevated circulating cre... |
ORPHA:79332 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
| Immunodeficiency 42 |
|
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... |
OMIM:616622 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Perianal erythema, Pustule, Increased circulating IgE level, Perioral erythema, Erythroderma, Ble... |
OMIM:614328 |
| Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Dyspnea, Leuko... |
ORPHA:293173 |
| Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis |
ORPHA:3347 |
| Scrub Typhus |
|
Macule, Anterior uveitis, Skin rash, Splenomegaly, Dyspnea, Myocarditis, Lymphadenopathy, Restric... |
ORPHA:83317 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Edema, Polyhydramnios, Recurrent upper respiratory tract infections, Recurr... |
OMIM:607143 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
| Parkes Weber Syndrome |
|
Skin ulcer, Abnormal lymphatic vessel morphology, Erythematous plaque, Scaling skin, Capillary ma... |
ORPHA:90307 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory distress, Respiratory insuffi... |
OMIM:615512 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Hepatomegaly, Acute hyperammonemia, Hyperglutaminemia, Hyperammonemia, Hype... |
ORPHA:927 |
| Bloom Syndrome |
|
Elevated hemoglobin A1c, Recurrent upper respiratory tract infections, Spotty hypopigmentation, B... |
OMIM:210900 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E... |
OMIM:619658 |
| Tetanus |
|
Respiratory distress, Localized skin lesion, Tachypnea, Elevated circulating creatine kinase conc... |
ORPHA:3299 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress |
ORPHA:91130 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Reticulocytosis, Jaundice, Schistocytosis, Elevated circulating creatinine ... |
OMIM:274150 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Hypermelanotic macule, Pneumonia, Autoimmune thrombocytopenia, ... |
OMIM:607944 |
| Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Mildly elevated creatine kinase, Respiratory insufficiency |
ORPHA:1145 |
| Majeed Syndrome |
|
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Edema, Congenital hypopl... |
ORPHA:77297 |
| Stt3B-Cdg |
|
Respiratory distress, Thrombocytopenia |
ORPHA:370924 |
| Nipah Virus Disease |
|
Respiratory distress, Recurrent pharyngitis, Infectious encephalitis, Cough |
ORPHA:99825 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Elevated ... |
ORPHA:308552 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Chronic oral candidiasis, Neonatal respiratory distress, Psoriasiform dermatitis, Palpebral edema... |
ORPHA:221139 |
| Amyloidosis, Familial Visceral |
|
Hepatomegaly, Skin rash, Edema, Splenomegaly, Cholestasis |
OMIM:105200 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Lymphedema, Splenomegaly, Jaundice, Abnormality of the lymphat... |
ORPHA:1414 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Hypoplastic spleen |
ORPHA:89844 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Ciliary Dyskinesia, Primary, 12 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:612650 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Stom... |
OMIM:185000 |
| Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... |
OMIM:613808 |
| Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Skin rash, Elevated circulating creatine kinase concentration, Ele... |
OMIM:610377 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Immunodeficiency 17 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD... |
OMIM:615607 |
| Incontinentia Pigmenti |
|
Skin rash, Eosinophilia, Keratitis, Erythema, Hypopigmented skin patches, Uveitis, Skin ulcer, Pu... |
ORPHA:464 |
| Gray Platelet Syndrome |
|
Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal numb... |
OMIM:139090 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Thrombocytopenia |
OMIM:615597 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia, Polyhydramnios, Lymphedema, Splenomegaly, Hepatosplenomegaly, C... |
OMIM:613563 |
| Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Chronic oral candidi... |
OMIM:615387 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Elevated circulating creati... |
ORPHA:329178 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Pneumonia, Restrictive ventilatory defect, Elevated circulating creatine kinase concentration, Ri... |
OMIM:253700 |
| Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Respiratory distress, Hyperammonemia, Dehydra... |
OMIM:251100 |
| Noonan Syndrome 10 |
|
Left ventricular hypertrophy, Increased nuchal translucency, Palmoplantar cutis laxa, Pleural eff... |
OMIM:616564 |
| Classic Hodgkin Lymphoma |
|
Hepatomegaly, Skin rash, Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Bone marrow hy... |
ORPHA:391 |
| Shigellosis |
|
Hyponatremia, Acute colitis, Abscess, Pneumonia, Myocarditis, Leukocytosis, Peritonitis, Abnormal... |
ORPHA:810 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... |
OMIM:608647 |
| Bronchogenic Cyst |
|
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasi... |
ORPHA:2357 |
| Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Arthritis, Infectious encepha... |
ORPHA:42642 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... |
OMIM:235700 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Respiratory tract infection,... |
ORPHA:79128 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Hypocalcemic se... |
OMIM:612301 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Paradoxical respiration, Recurrent acute respiratory tract infection |
OMIM:620011 |
| Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
| Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Generalized lymphadenopathy, Edema, Hepatic steatosis, Hemolytic anemia, Hepa... |
OMIM:615846 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
| Complement Factor B Deficiency |
|
Peritonitis, Pneumonia, Decreased circulating complement factor B concentration |
OMIM:615561 |
| Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased... |
OMIM:275350 |
| Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea, Hydrops fetalis |
ORPHA:45452 |
| Yellow Fever |
|
Increased circulating interleukin 6 concentration, Neutrophilia, Acute pancreatitis, Elevated cir... |
ORPHA:99829 |
| Typhoid |
|
Macule, Hepatomegaly, Skin rash, Epistaxis, Splenomegaly, Abnormal pulmonary interstitial morphol... |
ORPHA:99745 |
| Pancreatitis, Hereditary |
|
Pancreatic calcification, Pancreatic pseudocyst, Pleural effusion, Pancreatitis, Exocrine pancrea... |
OMIM:167800 |
| Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Splenomegaly, Cutis laxa, Decreased circulating antibody level, Recurrent otitis me... |
OMIM:605309 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Edema, Splenomegaly, Erythema, Lymphadenopat... |
OMIM:619183 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... |
OMIM:618652 |
| Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
| Joubert Syndrome 33 |
|
Splenomegaly, Apnea |
OMIM:617767 |
| Myopathy And Diabetes Mellitus |
|
Respiratory distress |
ORPHA:2596 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... |
OMIM:612714 |
| Leprosy |
|
Urticarial plaque, Hypopigmented macule, Epistaxis, Abnormality of the spleen, Skin nodule, Verru... |
ORPHA:548 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure, Elevated circulating creatine kinase concentration |
OMIM:620166 |
| Alveolar Echinococcosis |
|
Liver abscess, Pulmonary cyst, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pan... |
ORPHA:284 |
| Indolent Systemic Mastocytosis |
|
Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Lymphadenopathy, Increased propor... |
ORPHA:98848 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Anterior uveitis, Infla... |
ORPHA:95455 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Polyhydramnios, Recurrent pneumonia, Dehydration, Leukopenia, Prolonged pro... |
OMIM:616271 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co... |
ORPHA:158048 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Pallor, Exertion... |
ORPHA:90033 |
| Acquired Methemoglobinemia |
|
Respiratory distress, Dyspnea, Methemoglobinemia, Hypoxemia |
ORPHA:464453 |
| Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Increased circulating surfactant protein level, Oxyge... |
ORPHA:60025 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenit... |
OMIM:260920 |
| Hermansky-Pudlak Syndrome 2 |
|
Prolonged bleeding time, Absent platelet dense granules, Hepatomegaly, Chronic oral candidiasis, ... |
OMIM:608233 |
| Hypotrichosis Simplex Of The Scalp |
|
Allergic rhinitis, Atopic dermatitis, Increased circulating IgE level, Scaling skin |
ORPHA:90368 |
| Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent upper respiratory tract infecti... |
OMIM:614868 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Chronic otitis media, T... |
ORPHA:169090 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia... |
OMIM:617237 |
| Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Chronic bronchitis, Asthma, Bronchiectasis, Respiratory insuffi... |
OMIM:616037 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Conjugated hyperbilirub... |
OMIM:211600 |
| Niemann-Pick Disease, Type A |
|
Hepatomegaly, Recurrent respiratory infections, Bone-marrow foam cells, Microcytic anemia, Spleno... |
OMIM:257200 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
| Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin... |
ORPHA:48435 |
| Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Respiratory distress, Hydrops fetalis... |
ORPHA:79329 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... |
OMIM:612526 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased serum pyruvate, Hepatomegaly, Respiratory distress, Inspiratory stridor, Irregular resp... |
OMIM:604377 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Cardiomegaly, Pneumothorax, Abnormal circulating ceruloplasmin concentratio... |
OMIM:620306 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S... |
OMIM:224120 |
| Hereditary Acrokeratotic Poikiloderma |
|
Eczema, Pustule, Erythema, Xerostomia, Hypopigmented skin patches, Skin ulcer, Keratoconjunctivit... |
ORPHA:2907 |
| Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Decreased nasal nit... |
OMIM:617091 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Polyhydramnios, Dyspnea, Respiratory failure |
ORPHA:2759 |
| Castleman Disease |
|
Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Abdominal mass, E... |
ORPHA:160 |
| Listeriosis |
|
Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, ... |
ORPHA:533 |
| Chitayat Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Polyhydramnios, Abnormal pulmonary inters... |
OMIM:617180 |
| Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... |
OMIM:618699 |
| Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the lung, Neoplasm of the liver, Skin ulcer, Lymphadenopathy |
ORPHA:424016 |
| Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Bronchitis, Abnormality of the spleen, Lymphadenitis, Dehydrati... |
ORPHA:2552 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Dyspnea, Peripheral edema, Abnormality of the hepatic vasculature, Pl... |
ORPHA:1677 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Spontaneous pneumothorax, Facial wrinkling, Pulmonary arteriovenous malform... |
OMIM:606721 |
| Cushing Disease |
|
Acne, Leukocytosis, Skin ulcer, Recurrent cutaneous fungal infections, Pedal edema, Thin skin, De... |
ORPHA:96253 |
| Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Abnormal pulmonary i... |
OMIM:230800 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Recurrent respiratory infections, Hypoammonemia, Thrombocytopenia, Atelectasis, Che... |
ORPHA:534 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia |
ORPHA:75234 |
| Mercury Poisoning |
|
Respiratory distress, Dyspnea, Hypokalemia, Interstitial pneumonitis, Respiratory failure |
ORPHA:330021 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Pulmonary artery dilatation, Neonatal respiratory distress, Nonimmune hydrops fetalis, Polyhydram... |
OMIM:265380 |
| Subcorneal Pustular Dermatosis |
|
Pustule, Erythema, Increased circulating antibody level, Rheumatoid arthritis |
ORPHA:48377 |
| Isolated Atp Synthase Deficiency |
|
Hyperalaninemia, Hepatomegaly, Respiratory distress, Hyperammonemia |
ORPHA:254913 |
| Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Skin rash, Autoimmun... |
ORPHA:100026 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Dry skin, Prolonged neonatal jaundice |
ORPHA:226313 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Respiratory distress, Polyhydramnios, Conjugated hyperbilirubinemia, Microvesic... |
OMIM:617156 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Al Amyloidosis |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Nonproductive c... |
ORPHA:85443 |
| Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Im... |
OMIM:618063 |
| Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
| Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ... |
OMIM:614370 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Leukopenia, Neutropenia, Pa... |
ORPHA:811 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Petechiae |
OMIM:611490 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Decreased circulating IgG level, Chronic lung disease, Severe B lymphocytopenia... |
OMIM:620005 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Ciliary Dyskinesia, Primary, 17 |
|
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... |
OMIM:614679 |
| Immunodeficiency 77 |
|
Recurrent tonsillitis, Bronchiectasis, Chronic pulmonary obstruction, Cutaneous abscess |
OMIM:619223 |
| Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Lymphadenitis, Abnormal lung morphology, D... |
ORPHA:449395 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel... |
OMIM:278000 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... |
OMIM:602347 |
| Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Pericardial effusion, Splenomegaly,... |
ORPHA:77261 |
| Colchicine Poisoning |
|
Hyponatremia, Respiratory distress, Myocarditis, Leukocytosis, Abnormal blood ion concentration, ... |
ORPHA:31824 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Hepatomegaly, Hepatocellular carcinoma, Microvesicular hepatic steatosis, M... |
OMIM:256810 |
| Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615444 |
| Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Inflammatory abnormality of the skin, Eczema, Autoimmune thrombocyto... |
ORPHA:391487 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
| Immunodeficiency 68 |
|
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... |
OMIM:612260 |
| Cold Agglutinin Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Pallor |
ORPHA:56425 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
| Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:269920 |
| Glycogen Storage Disease Ixb |
|
Splenomegaly, Increased hepatic glycogen content, Hyperuricemia, Hepatomegaly |
OMIM:261750 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Hydro... |
ORPHA:288 |
| Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Increased circulating IgG4 level, Cholangitis, Retroperitoneal fibrosis, Facial ede... |
ORPHA:449432 |
| Adult Syndrome |
|
Dry skin, Thin skin, Skin ulcer, Melanocytic nevus |
ORPHA:978 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Preauricular pit, Increased nuchal translucency, Pleural effusion |
ORPHA:453499 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Dyspnea, Hepatic necrosis, Anemia, Leukopenia, Interstitial pneumonitis, Increas... |
OMIM:127550 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... |
OMIM:300280 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, L... |
OMIM:618213 |
| Mirage Syndrome |
|
Hyponatremia, Petechiae, Hyperkalemia, Anemia, Leukopenia, Aspiration pneumonia, Hypoplastic sple... |
OMIM:617053 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Respiratory failure, Chylothorax |
OMIM:620278 |
| Scleromyxedema |
|
Elevated circulating creatine kinase concentration, Skin-colored papule, Abnormal lung morphology... |
ORPHA:167635 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
| Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Pneumonia, Chronic noninfectious lymphadenopathy, Nonproductive cough, Dyspnea, Ast... |
ORPHA:97287 |
| Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Edema, Cardiomegaly, Polyhydramnios, Dyspnea, Pericardial effusion, Cutis l... |
ORPHA:363705 |
| Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Leukopenia, Tubulointerstitial nephritis, Hepatomegaly, ... |
ORPHA:470 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... |
OMIM:616649 |
| Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... |
OMIM:182900 |
| Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Maculopapular exanthema, Skin rash... |
ORPHA:398124 |
| Hajdu-Cheney Syndrome |
|
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Skin ulcer, Periodontitis, Dry skin |
ORPHA:955 |
| Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczema, Thyroiditis |
OMIM:618985 |
| Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Septic arthritis, Osteoarthritis, Osteomyelitis, Acral ulceration |
OMIM:608654 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... |
OMIM:256040 |
| Igg4-Related Pachymeningitis |
|
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protei... |
ORPHA:449427 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Skin tags, Brain abscess, Respiratory distress, Central apnea, Redundant skin, Respiratory failur... |
OMIM:616482 |
| Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Nonproductive cough, Uveitis, Dehydration, Le... |
ORPHA:99826 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Reduced vital capacity, Penetrating foot ulcers, Respiratory insufficiency |
ORPHA:99956 |
| Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Recurrent aspiration pneumonia, Polyhydramnios |
OMIM:619971 |
| Congenital Diaphragmatic Hernia |
|
Respiratory distress, Pulmonary hypoplasia, Hypoxemia |
ORPHA:2140 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Portal hypertension, Reduced forced... |
OMIM:613385 |
| Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Abnormal circulating lipid concentration, Skin rash, Pneumonia, Decreased circu... |
ORPHA:2298 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Intraalv... |
OMIM:222700 |
| Diaphanospondylodysostosis |
|
Respiratory distress |
ORPHA:66637 |
| Whipple Disease |
|
Hyponatremia, Hepatomegaly, Myositis, Pericarditis, Splenomegaly, Mediastinal lymphadenopathy, My... |
ORPHA:3452 |
| Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia, Increased circulating IgE level |
OMIM:607676 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Eczema, Splenomegaly, Leukocyto... |
OMIM:615895 |
| Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
| Mulibrey Nanism |
|
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Perianal erythema, Impaired T cell function, Splenomegaly, Decreased serum zinc, Pe... |
OMIM:201100 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ... |
OMIM:265120 |
| Hennekam-Beemer Syndrome |
|
Macule, Pneumonia, Subcutaneous nodule, Erythema, Respiratory insufficiency, Skin vesicle, Mastoc... |
ORPHA:2135 |
| Choanal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Upper airway obstruction, Tracheomalacia,... |
ORPHA:137914 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Aplasia/Hypoplasia of the skin, Hypertriglyceridemia, Splenomegaly, Abnormality of ... |
ORPHA:2348 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
OMIM:211530 |
| Ciliary Dyskinesia, Primary, 19 |
|
Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici... |
OMIM:614935 |
| Panbronchiolitis, Diffuse |
|
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough |
OMIM:604809 |
| Interstitial Lung And Liver Disease |
|
Hepatomegaly, Dyspnea, Intraalveolar phospholipid accumulation, Cholestasis, Hyperammonemia, Resp... |
OMIM:615486 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Redundant neck skin, Polyhydramnios, Thyroid lymphangiectasia, Lymphedema, Splenome... |
OMIM:235255 |
| Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Respiratory distress, Neonatal respiratory di... |
OMIM:260400 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
| Timothy Syndrome |
|
Pneumonia, Bronchitis, Cardiomegaly, Hypocalcemia, Pulmonary arterial hypertension |
OMIM:601005 |
| Hyperlipoproteinemia, Type Id |
|
Hyperlipoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia... |
OMIM:615947 |
| Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Conjunctivitis, Chylo... |
OMIM:153400 |
| Myelofibrosis |
|
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura |
OMIM:254450 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Hepatomegaly, Microvesicular hepatic steatosis, Stridor, Macrovesicular hep... |
OMIM:615595 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Macrocytic anemia, Granulocytopenia |
OMIM:606164 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Hepatomegaly, Sacral dimple, Polyhydramnios, Decreased proportio... |
ORPHA:508533 |
| Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
| Elliptocytosis 1 |
|
Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor |
OMIM:611804 |
| Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Splenome... |
OMIM:251880 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:233710 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Acne, Pancreatoblastoma, Neoplasm of the thymus, Small cell lung carci... |
ORPHA:99889 |
| Gaucher Disease, Type Ii |
|
Hepatomegaly, Apnea, Splenomegaly, Anemia, Stridor, Cough, Bronchiolitis, Recurrent aspiration pn... |
OMIM:230900 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Prolonged prothrombin ... |
OMIM:613812 |
| Hereditary Angioedema Type 1 |
|
Respiratory distress, Tongue edema, Pharyngeal edema, Intestinal edema, Edema of the dorsum of ha... |
ORPHA:100050 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Jaundice, Pulmonary hypoplasia, Elevated circulating glutaric... |
OMIM:231680 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Edema of the dorsum of feet, Edema of the dorsum of hands |
ORPHA:544503 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Respiratory... |
OMIM:220110 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Recurrent skin infections, Pneumonia, Edema, Skin erosion, Dyspnea, Pneumot... |
ORPHA:79404 |
| Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Eruptive xanthomas, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum,... |
OMIM:238600 |
| C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Paraproteinemia, Elevated circulating creatinine concen... |
ORPHA:329918 |
| Myotonic Dystrophy 1 |
|
Respiratory distress, Cholelithiasis, Polyhydramnios |
OMIM:160900 |
| O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
| Orofaciodigital Syndrome Viii |
|
Recurrent aspiration pneumonia, Milia |
OMIM:300484 |
| Biotinidase Deficiency |
|
Hepatomegaly, Apnea, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, T... |
OMIM:253260 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:233690 |
| Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating alpha-fetoprotein concentration, Increased hepatitis B virus antibody level,... |
ORPHA:90003 |
| Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Asthma, Hepatosplenomegaly, Ane... |
OMIM:606003 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hyperammonemia |
ORPHA:664 |
| Neuraminidase Deficiency |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:256550 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:610293 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Syndromic Diarrhea |
|
Hepatomegaly, Gastritis, Increased mean platelet volume, Splenomegaly, Dry skin, Cafe-au-lait spo... |
ORPHA:84064 |
| Nasolacrimal Duct Cyst |
|
Intercostal retractions, Chronic irritative conjunctivitis, Periorbital edema, Episodic respirato... |
ORPHA:141083 |
| Alpha-Mannosidosis, Adult Form |
|
Pancytopenia, Pneumonia, Hepatosplenomegaly |
ORPHA:309288 |
| Tetrasomy 5P |
|
Preauricular pit, Recurrent respiratory infections, Respiratory distress, Redundant neck skin, Pu... |
ORPHA:3309 |
| Lead Poisoning |
|
Decreased HDL cholesterol concentration, Skin rash, Asthma, Increased circulating IgE level, Imba... |
ORPHA:330015 |
| Fanconi Anemia, Complementation Group F |
|
Sacral dimple, Pneumonia, Polyhydramnios, Anemia, Leukopenia, Bone marrow hypocellularity, Cafe-a... |
OMIM:603467 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ... |
ORPHA:324410 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Pachyonychia Congenita |
|
Respiratory distress, Epidermoid cyst, Angular cheilitis, Eruptive vellus hair cyst, Cutaneous cyst |
ORPHA:2309 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Increased nuchal translucency, Respiratory insufficiency, Abnormal liver lo... |
OMIM:608022 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Aplasia/Hypoplasia of the skin, Hypertriglyceridemia, Splenomegaly, Xanthomatosis, ... |
ORPHA:79083 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardiomyopathy, Infertil... |
ORPHA:465508 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Severe B lymphocytopenia, Psoriasiform dermatitis, Autoimmune thrombocytopenia, Rec... |
ORPHA:293978 |
| Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Neonatal respiratory distress, Fetal ascites, Bone-marrow foam cells, Polyhydramnio... |
OMIM:607625 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Hepatomegaly, Recurrent respiratory infections |
OMIM:619383 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Hypocalcemia, El... |
OMIM:619991 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Recurrent lower respiratory ... |
OMIM:615966 |
| Fish-Eye Disease |
|
Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly |
ORPHA:79292 |
| Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hyperammonemia, Prolonged prothrombin time, He... |
OMIM:618641 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Dyspnea, Tachypnea, Hypophosphatemia, Anemia |
OMIM:239200 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Recurrent respiratory infections, Intermittent thrombocytopenia, Perianal abscess, ... |
OMIM:612541 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Redundant neck skin, Polyhydramnios, Splenomegaly, Pancreatic lymphangiectasis, Pul... |
ORPHA:1655 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Sinusitis, Dysgammaglobulinemia, Recurrent bronchitis, Recurrent pne... |
OMIM:251260 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Ectodermal Dysplasia And Immunodeficiency 2 |
|
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Defective production of NFKB1-depen... |
OMIM:612132 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent... |
OMIM:601847 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... |
ORPHA:98915 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Irregular menstruation, Female infertility, Amenorrhea |
OMIM:110100 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
| Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
| Adams-Oliver Syndrome 5 |
|
Hypersplenism, Splenomegaly, Portal vein thrombosis, Pulmonary arterial hypertension, Cutis marmo... |
OMIM:616028 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Intrah... |
OMIM:607765 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Odontochondrodysplasia 1 |
|
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia |
OMIM:184260 |
| Eisenmenger Syndrome |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Pedal edema, Aortopu... |
ORPHA:97214 |
| Igg4-Related Ophthalmic Disease |
|
Sinusitis, Palpebral edema, Eosinophilia, Increased circulating IgG4 level, Elevated circulating ... |
ORPHA:449563 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Respiratory distress, Megaloblastic anemia, Pulmonary ... |
ORPHA:79282 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Preauricular skin tag, Respiratory failure, Dyspnea |
ORPHA:2707 |
| Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... |
OMIM:603903 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias... |
OMIM:611881 |
| Chime Syndrome |
|
Erythema, Skin ulcer, Acute leukemia |
ORPHA:3474 |
| Felty Syndrome |
|
Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Skin rash, Pneumonia, Nodular regenerative hyperplasia of liver, Elevated circ... |
ORPHA:247691 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
| Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Lymphedema, Synovitis, Dry sk... |
OMIM:163950 |
| Fryns Syndrome |
|
Ectopic pancreatic tissue, Polyhydramnios, Chylothorax, Pulmonary hypoplasia, Polysplenia |
OMIM:229850 |
| Odontochondrodysplasia |
|
Respiratory distress |
ORPHA:166272 |
| Agnathia-Otocephaly Complex |
|
Respiratory distress, Polyhydramnios, Pulmonary hypoplasia, Tracheomalacia |
OMIM:202650 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... |
ORPHA:3427 |
| Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia |
ORPHA:75233 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Abnormal circulating carnitine concentration, Aspiration pneumonia, Decreased circulating carniti... |
ORPHA:431361 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Hepatomegaly, Orthopnea, Elevated circulating creatine kinase concentration... |
ORPHA:365 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili... |
OMIM:615508 |
| Trichothiodystrophy 3, Photosensitive |
|
Abdominal adhesions, Lymphopenia, Increased circulating IgA level, Neutropenia |
OMIM:616395 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Vici Syndrome |
|
Decreased circulating IgG level, Recurrent respiratory infections, Left ventricular hypertrophy, ... |
OMIM:242840 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Acral ulceration |
OMIM:201300 |
| Familial Tumoral Calcinosis |
|
Hepatomegaly, Skin rash, Splenomegaly, Erythema, Subcutaneous nodule, Hypopigmented skin patches,... |
ORPHA:53715 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Episodic tachypnea, Aspiration pneumonia |
ORPHA:79264 |
| Cocaine Intoxication |
|
Respiratory distress, Pulmonary edema, Elevated circulating creatine kinase concentration, Glomer... |
ORPHA:90068 |
| Cholera |
|
Hyponatremia, Tachypnea, Abnormal blood ion concentration, Dehydration, Hypokalemia, Hypocalcemia... |
ORPHA:173 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Pulmonary hypoplasia |
OMIM:617895 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Recurrent respiratory infections, Pneumonia, Edema, Polyhydramnios, Abnormal respiratory system p... |
ORPHA:98905 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Spo... |
OMIM:214500 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
| Atypical Werner Syndrome |
|
Aplasia/Hypoplasia of the skin, Hypertriglyceridemia, Lack of skin elasticity, Skin ulcer, Neopla... |
ORPHA:79474 |
| Mohr-Tranebjaerg Syndrome |
|
Agammaglobulinemia, Aspiration pneumonia |
ORPHA:52368 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Keratitis, Osteomyelitis, Acral ulceration |
OMIM:256800 |
| Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Recurrent respiratory infections, Apnea, Splenomegaly, Abnormal pulmonary interstit... |
OMIM:617050 |
| Esophageal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Bronchitis, Polyhydramnios, Episodic resp... |
ORPHA:1199 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Splenomegaly, Dyspnea, Increased mean corpuscular hemoglobin concentration,... |
ORPHA:90041 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Inflammatory abnormality of the skin, Elevated circulating creatine kinase concentr... |
ORPHA:565612 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Atelectasis, Polyhydramnios |
OMIM:300219 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M... |
ORPHA:309854 |
| Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration, Elevated circulating creatine kinase concentration |
OMIM:618733 |
| Cystic Fibrosis |
|
Hepatomegaly, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recu... |
OMIM:219700 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Abnormality of cy... |
ORPHA:567983 |
| Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
| Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Recurrent bacterial skin infections, Nonimmune hydrops fetalis... |
ORPHA:79277 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617102 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Recurrent respiratory infections, Apnea, Splenomegaly, Pulmonary artery stenosis, L... |
ORPHA:667 |
| Essential Thrombocythemia |
|
Splenomegaly, Prolonged bleeding time, Abnormal platelet morphology, Acute leukemia |
ORPHA:3318 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension, Redundant neck skin |
ORPHA:2519 |
| Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Skin ulcer |
OMIM:245660 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinemia |
OMIM:235555 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia, Cerebral edema |
OMIM:608033 |
| Aromatase Deficiency |
|
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
| Biotinidase Deficiency |
|
Respiratory distress, Apnea, Skin rash, Hyperammonemia, Conjunctivitis, Eczematoid dermatitis, Hy... |
ORPHA:79241 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Preauricular pit, Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hep... |
OMIM:208540 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
| Glycogen Storage Disease Ixc |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased h... |
OMIM:613027 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... |
OMIM:619849 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Hepatomegaly, Severe B lymphocytopenia, Superficial dermal perivascular inf... |
ORPHA:83617 |
| Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Hyperlipidemia, Gout, ... |
OMIM:232220 |
| Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Macrocytic anemia, Reticulocytopenia, Steroid-responsive anemia, Anemia |
OMIM:613309 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Pulmonary embolism, Leukocytosi... |
ORPHA:94093 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Intercostal retractions, Crackles, Cardiomegaly, Wheezing, Tachypnea, Recurrent pne... |
ORPHA:1329 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly |
ORPHA:42 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... |
OMIM:607626 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Abnormality of the pancreas, Subcutaneous nodule, Melanocytic nevus |
ORPHA:1555 |
| Moebius Syndrome |
|
Respiratory distress |
OMIM:157900 |
| Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Osteomyelitis, Elevated circulating C-reactive protein concentration,... |
ORPHA:355 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia, Spotty hypopigmentation |
ORPHA:1867 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Generalized edema |
OMIM:271225 |
| Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re... |
ORPHA:209905 |
| Mucopolysaccharidosis Type 7 |
|
Recurrent respiratory infections, Abnormal pleura morphology, Lymphedema, Splenomegaly, Hepatitis... |
ORPHA:584 |
| Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Absent gallbladder, Asplenia, Pulmonary arterial hypertension, Annular panc... |
ORPHA:210122 |
| Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Increased mean platelet volume, Polyhydramnios, Splenomegaly, Abnormality of the pa... |
OMIM:222470 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
| Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Hypercapnia, Reduced fo... |
OMIM:164310 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Redundant neck skin, Tracheomalacia |
OMIM:217980 |
| Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Repeated pneumothoraces, Atelectasis, Oligohydramnios, Respiratory insuffic... |
ORPHA:536467 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Erythema, ... |
OMIM:614748 |
| Arterial Tortuosity Syndrome |
|
Respiratory distress, Redundant skin, Dyspnea, Pulmonary artery stenosis, Myocarditis, Cardioresp... |
ORPHA:3342 |
| Scimitar Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Partial anomalo... |
ORPHA:185 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Respiratory distress, Neonatal respiratory distress, Apnea, Hypopnea, Hypokalemia, ... |
OMIM:618426 |
| Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
| Congenital Myasthenic Syndrome |
|
Recurrent respiratory infections, Sudden episodic apnea, Polyhydramnios, Intermittent episodes of... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Recurrent respiratory infections, Sudden episodic apnea, Polyhydramnios, Intermittent episodes of... |
ORPHA:98914 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Allergic rhinitis, Eczema, Asthma, Decreased circulating total IgM, Annular pancreas |
OMIM:618162 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:201475 |
| Dyskeratosis Congenita, Digenic |
|
Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased circulating I... |
OMIM:620040 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension |
OMIM:619272 |
| Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv... |
OMIM:158310 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
| Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
| Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Palpebral edema, Polyhydramnios |
ORPHA:50810 |
| Budd-Chiari Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,... |
ORPHA:131 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Thrombocytopenia, Aspi... |
OMIM:301072 |
| Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Polyhydramnios, Enlarged kidney, Splenic cyst |
OMIM:618188 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,... |
ORPHA:86843 |
| Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
| Restrictive Dermopathy 2 |
|
Respiratory distress |
OMIM:619793 |
| Hereditary Orotic Aciduria |
|
Splenomegaly, Recurrent respiratory infections, Anemia, Impaired T cell function |
ORPHA:30 |
| Congenital Tracheal Stenosis |
|
Respiratory distress, Fetal ascites, Polyhydramnios, Neonatal asphyxia, Abnormal lung morphology,... |
ORPHA:141127 |
| Familial Mediterranean Fever |
|
Pericarditis, Skin rash, Orchitis, Splenomegaly, Peritonitis, Erythema, Osteoarthritis, Pedal ede... |
ORPHA:342 |
| Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmune thrombocytopenia, Hep... |
ORPHA:1855 |
| Geleophysic Dysplasia 3 |
|
Hepatomegaly, Pneumonia, Polyhydramnios, Dyspnea, Respiratory failure |
OMIM:617809 |
| Tyrosinemia, Type I |
|
Hypertyrosinemia, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Splenomegal... |
OMIM:276700 |
| Kniest Dysplasia |
|
Respiratory distress, Recurrent otitis media, Tracheomalacia |
OMIM:156550 |
| Isolated Biliary Atresia |
|
Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Conjugated hyperbilirubinemia, Cholest... |
ORPHA:30391 |
| Aapoaiv Amyloidosis |
|
Hyperlipidemia, Paraproteinemia, Elevated circulating creatinine concentration, Chronic pulmonary... |
ORPHA:439232 |
| Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure, Hypopigmented skin patches |
ORPHA:206436 |
| Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Edema, Osteoarthritis, Pedal edema, Hypoalbumi... |
OMIM:277900 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Skin tags, Preauricular pit, Respiratory distress, Redundant neck skin, Palmoplantar cutis laxa |
OMIM:123790 |
| Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Impotence, Cardiomegaly |
OMIM:268800 |
| Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Splenomegaly, Hydrops fetalis, Hepatosplenomegaly, Aspiration p... |
ORPHA:354 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Eczema, Rhinitis, Periorbital wrinkles, Thin skin, Dry skin, Hypoplastic-ab... |
OMIM:305100 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Respiratory failure ... |
ORPHA:77293 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia |
ORPHA:204 |
| Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating creatine k... |
OMIM:602668 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Pulmonary hypoplasia, Polyhydramnios |
OMIM:151210 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Polyhydramnios |
ORPHA:990 |
| Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Auriculocondylar Syndrome |
|
Respiratory distress, Preauricular skin tag, Periauricular skin pits |
ORPHA:137888 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Impotence, Cardiomegaly |
OMIM:105210 |
| Primary Dystonia, Dyt4 Type |
|
Respiratory distress |
ORPHA:98805 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Preauricular skin tag |
OMIM:610536 |
| Polycythemia Vera |
|
Hepatomegaly, Epistaxis, Portal hypertension, Pulmonary embolism, Portal vein thrombosis, Splenom... |
ORPHA:729 |
| Ethylene Glycol Poisoning |
|
Gastritis, Episodic respiratory distress, Tachypnea, Hyperkalemia, Hypocalcemia, Abnormal pattern... |
ORPHA:31826 |
| Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level |
ORPHA:3409 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Polyhydramnios, Conjugated hyperbilirubinemia, Splenomegaly, Jaun... |
OMIM:608885 |
| Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Dehydration, Pallor, Aspiration |
ORPHA:2131 |
| Oromandibular Dystonia |
|
Respiratory distress |
ORPHA:93958 |
| Encephalitis Lethargica |
|
Increased circulating antibody level, Hyperventilation |
ORPHA:83600 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Hepatomegaly, Respiratory distress, Recurrent respiratory infections, Apn... |
ORPHA:17 |
| Roifman-Chitayat Syndrome |
|
Arthritis, Pneumonia |
OMIM:613328 |
| Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Elevated circulating alpha-... |
OMIM:615273 |
| Pearson Syndrome |
|
Hydrops fetalis, Dehydration, Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steato... |
ORPHA:699 |
| Achondroplasia |
|
Respiratory distress, Polyhydramnios, Upper airway obstruction, Pulmonary hypoplasia, Recurrent o... |
OMIM:100800 |
| Tuberous Sclerosis Complex |
|
Respiratory distress, Epidermoid cyst, Respiratory tract infection, Pulmonary lymphangiomyomatosi... |
ORPHA:805 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
| Cleft Velum |
|
Recurrent otitis media, Aspiration pneumonia |
ORPHA:99772 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Recurrent respiratory infections, Sacral dimple |
OMIM:300968 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Aspiration pneumonia, Cough |
ORPHA:216866 |
| Familial Thrombocytosis |
|
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Pulmonary arterial hypertensi... |
ORPHA:71493 |
| Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Aspiration pneumonia, Hepatosplenomegaly |
ORPHA:845 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S... |
OMIM:610199 |
| Degcags Syndrome |
|
Hepatomegaly, Pancytopenia, Sacral dimple, Chronic lung disease, Pneumonia, Polyhydramnios, Conge... |
OMIM:619488 |
| Chops Syndrome |
|
Splenomegaly, Anomalous pulmonary venous return, Aspiration pneumonia, Tracheomalacia, Chronic lu... |
OMIM:616368 |
| Hepatoerythropoietic Porphyria |
|
Hemolytic anemia, Recurrent bacterial skin infections, Nonimmune hydrops fetalis, Edema, Scarring... |
ORPHA:95159 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Apnea, Dyspnea, Low plasma citrulline, Episodic respiratory distress, Hyperalaninem... |
ORPHA:255210 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Hypergonadotropic hypogonadism, Cardiomegaly, Splenomega... |
OMIM:602782 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Dehydration, Periportal fibros... |
OMIM:263200 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... |
ORPHA:99103 |
| Ramos-Arroyo Syndrome |
|
Respiratory distress, Keratitis, Xerostomia, Shoulder dimple |
ORPHA:1051 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress |
OMIM:612863 |
| Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Recurrent pneumonia, Chronic lung disease |
OMIM:613848 |
| Lissencephaly Due To Lis1 Mutation |
|
Polyhydramnios, Neonatal hyperbilirubinemia, Aspiration pneumonia |
ORPHA:95232 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
| Infantile Neuroaxonal Dystrophy |
|
Apneic episodes in infancy, Aspiration pneumonia |
ORPHA:35069 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Recurrent... |
ORPHA:99125 |
| Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... |
ORPHA:70 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Elevated circulating C-... |
ORPHA:91500 |
| Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ... |
OMIM:253200 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Left ventricular hypertrophy, Hepatomegaly, Aspiration pneumonia |
OMIM:619167 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
| Rodrigues Blindness |
|
Nasal flaring |
OMIM:268320 |
| Orofaciodigital Syndrome Ix |
|
Recurrent aspiration pneumonia, Milia |
OMIM:258865 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress |
ORPHA:438216 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Restrictive ventilatory defect |
OMIM:183900 |
| Gitelman Syndrome |
|
Neoplasm of the pancreas, Respiratory distress, Pericardial effusion, Hypermagnesemia, Gout, Iron... |
ORPHA:358 |
| Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Preauricular skin tag, Recurrent respiratory infections, Oligohydramnios |
ORPHA:177907 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Jaundice, Hyperkalemia, Pneumonia |
ORPHA:90790 |
| Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93259 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Redundant skin, Dyspnea, Bronchiectasis, Cutis laxa, Emphysema, Peripheral pulmonary artery stenosis |
OMIM:123700 |
| Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Atypical scarring of skin, Conjunctivitis... |
OMIM:263700 |
| Gm1 Gangliosidosis Type 1 |
|
Hydrops fetalis, Aspiration pneumonia, Hepatosplenomegaly |
ORPHA:79255 |
| Niemann-Pick Disease Type C |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Abnormal lung morpho... |
ORPHA:646 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Dilated cardiomyopathy, Enlarged kidney, Cardiomegaly |
OMIM:608836 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:614921 |
| Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93260 |
| Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Erythema nodosum, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasi... |
OMIM:613471 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, P... |
ORPHA:99104 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Recurrent sinopulmonary infections, Cardiomegaly, Adenoiditis, Splenomegaly, Respir... |
ORPHA:581 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
| Trichinellosis |
|
Skin rash, Edema, Facial edema, Periorbital edema, Increased circulating IgE level, Conjunctivitis |
ORPHA:863 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
| Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Polyhydramnios, Pretibial dimple, Tra... |
OMIM:114290 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Orthopnea, Eosinophilia, Cardiom... |
ORPHA:75565 |
| Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Sacral dimple, Aplasia/Hypoplasia of the skin, Dyspnea, Erythema, Hypopigme... |
ORPHA:2556 |
| Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Thyroiditis, Scl... |
ORPHA:64744 |
| Developmental And Epileptic Encephalopathy 95 |
|
Cryptorchidism, Hepatomegaly, Cardiomegaly |
OMIM:618143 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Microcytic anemia, T lymphocytopenia, Hyperpigmented nevi, Hepatic stea... |
ORPHA:2959 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Splenomegaly, Polyhydramnios, Hepatomegaly |
OMIM:617088 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia, Abnormal lung lobation, Decreased circulating total IgM, Dec... |
ORPHA:369837 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Aspiration... |
ORPHA:1018 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:228308 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
| Singleton-Merten Syndrome 1 |
|
Recurrent respiratory infections, Pleural effusion, Cardiomegaly |
OMIM:182250 |
| Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Respiratory distress, Polyhydramnios, Respiratory tract infection, Recurrent up... |
OMIM:180849 |
| Alpha-Mannosidosis, Infantile Form |
|
Pancytopenia, Pneumonia, Otitis media, Hepatosplenomegaly |
ORPHA:309282 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Recurrent respiratory infections, Redundant neck skin, Apnea, Tachypnea, Recurrent aspiration pne... |
ORPHA:397715 |
| Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Emphysema, Thin skin |
OMIM:224690 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Increased circulating antibody level, Elevated circulating creatine kinase concentration, Elevate... |
OMIM:606002 |
| Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
| Arboleda-Tham Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Upper eyel... |
OMIM:616268 |
| Split Cord Malformation |
|
Skin dimple, Penetrating foot ulcers, Hydromyelia |
ORPHA:573278 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Hepatomegaly, Hepatic hemangioma, Recurrent aspiration pneumonia |
ORPHA:73230 |
| Adnp Syndrome |
|
Respiratory distress, Aspiration, Recurrent upper respiratory tract infections |
ORPHA:404448 |
| Aortic Arch Interruption |
|
Respiratory distress, Tachypnea, Pedal edema, Aortopulmonary window, Left ventricular hypertrophy... |
ORPHA:2299 |
| Cornelia De Lange Syndrome 1 |
|
Duplication of internal organs, Pneumonia, Thrombocytopenia, Otitis media |
OMIM:122470 |
| X-Linked Dystonia-Parkinsonism |
|
Aspiration pneumonia |
ORPHA:53351 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Elevated circulating alpha-fetoprotein concentration, Hyperpigmented/hypopigmented macules, Incre... |
ORPHA:280633 |
| Fucosidosis |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:230000 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia |
OMIM:619482 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Premature ovarian insufficiency, Bicuspid aortic valve, Female infertility, Secondary amenorrhea,... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Premature ovarian insufficiency, Bicuspid aortic valve, Female infertility, Secondary amenorrhea,... |
ORPHA:99228 |
| Monosomy X |
|
Premature ovarian insufficiency, Bicuspid aortic valve, Female infertility, Secondary amenorrhea,... |
ORPHA:99226 |
| Turner Syndrome |
|
Premature ovarian insufficiency, Bicuspid aortic valve, Female infertility, Secondary amenorrhea,... |
ORPHA:881 |
| Marshall-Smith Syndrome |
|
Apnea, Recurrent upper respiratory tract infections, Melanocytic nevus, Stridor, Aspiration pneum... |
OMIM:602535 |
| Schinzel-Giedion Syndrome |
|
Respiratory distress, Recurrent pneumonia, Annular pancreas, Pulmonary hypoplasia, Hepatoblastoma... |
ORPHA:798 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... |
OMIM:300967 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Hyperpigmented papule, Recurrent pneumonia, Acute myelomonocytic leukemia, ... |
ORPHA:99646 |
| Stüve-Wiedemann Syndrome |
|
Respiratory distress, Sacral dimple, Apnea, Asthma, Oligohydramnios |
ORPHA:3206 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Cryptorchidism, Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Hypercapnia, Polyhydramnios, Respiratory insufficiency due to m... |
ORPHA:2020 |
| Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2554 |
| Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Edema, Cardiomegaly, Polyhydramnios, Pericardial effusion, Hydrops fetalis,... |
ORPHA:51608 |
| Simpson-Golabi-Behmel Syndrome |
|
Hepatomegaly, Polyhydramnios, Splenomegaly, Increased circulating IgE level, Pancreatic islet-cel... |
ORPHA:373 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Enlarged kidney |
OMIM:252500 |
| Wiedemann-Rautenstrauch Syndrome |
|
Recurrent respiratory infections, Hypertriglyceridemia, Pneumonia, Hypoplasia of the thymus, Thin... |
OMIM:264090 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly |
OMIM:618278 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... |
OMIM:300855 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney |
OMIM:130650 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Exocrine pancreatic insufficiency, Pulmonary artery stenosis, Biliary atres... |
ORPHA:2255 |
| 8Q24.3 Microdeletion Syndrome |
|
Skin tags, Respiratory distress, Abnormal lung lobation, Naevus flammeus of the eyelid, Oligohydr... |
ORPHA:508488 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Aspiration pneumonia |
OMIM:616430 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
T lymphocytopenia, Abnormal B cell morphology, Hashimoto thyroiditis, Aplasia of the thymus |
OMIM:618223 |
| Doors Syndrome |
|
Respiratory distress, Thrombocytosis, Polyhydramnios, Aspiration pneumonia |
ORPHA:79500 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Abscess, Atypical scarring of skin, Abnormality of humoral immunity, Se... |
ORPHA:642 |
| Cysticercosis |
|
Iridocyclitis, Increased circulating antibody level, Infectious encephalitis |
ORPHA:1560 |
| Osteoglophonic Dysplasia |
|
Respiratory distress |
OMIM:166250 |
| Cleidocranial Dysplasia 1 |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:119600 |
| Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Viss Syndrome |
|
Chronic gastritis, Eczema, Polyhydramnios, Dyspnea, Asthma, Increased circulating IgE level, Hype... |
OMIM:619472 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:137675 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Asthma, Nasal flaring |
ORPHA:466943 |
| Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Cardiomegaly |
ORPHA:97297 |
| Abetalipoproteinemia |
|
Hepatomegaly, Cardiomegaly |
ORPHA:14 |
| Pmm2-Cdg |
|
Respiratory distress, Pericarditis, Lymphedema, Pericardial effusion, Reduced thyroxin-binding gl... |
ORPHA:79318 |
| Fontaine Progeroid Syndrome |
|
Redundant skin, Pneumothorax, Oligohydramnios, Respiratory insufficiency, Pulmonary hypoplasia, L... |
OMIM:612289 |
| Alström Syndrome |
|
Respiratory distress, Hepatic fibrosis, Otitis media, Hepatic steatosis, Hepatomegaly, Portal hyp... |
ORPHA:64 |
| Ulbright-Hodes Syndrome |
|
Respiratory distress, Pneumothorax, Respiratory failure, Pulmonary hypoplasia, Oligohydramnios |
ORPHA:3404 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Apnea, Decreased serum iron, Breathing dysregulation, Aspiration pneumonia, Anemia |
ORPHA:438213 |
| Aicardi-Goutières Syndrome |
|
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:51 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Cyst of the ductus choledochus, Sacral dimple, Recurrent upper and lower re... |
ORPHA:480880 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Aspiration pneumonia |
ORPHA:99027 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent respiratory infections, Pneumonia, Asthma, Otitis media, Keloids |
ORPHA:353281 |
| Coffin-Siris Syndrome |
|
Hepatoblastoma, Recurrent upper respiratory tract infections, Aspiration pneumonia |
ORPHA:1465 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Asthma, Aspiration pneumonia, Tracheomalacia, Pulmonary arterial hypertension, Chronic lung disease |
ORPHA:444077 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cryptorchidism, Hypertrophic cardiomyopathy, Visceromeg... |
ORPHA:116 |
| Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Cryptorchidism, Cardiomyopathy, Atrial septal defect, Te... |
ORPHA:3472 |
| Williams Syndrome |
|
Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe... |
ORPHA:904 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent respiratory infections, Pneumonia, Polyhydramnios, Asthma, Aspiration, Otitis media, Ke... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent respiratory infections, Pneumonia, Polyhydramnios, Asthma, Aspiration, Otitis media, Ke... |
ORPHA:353277 |
| Alobar Holoprosencephaly |
|
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia |
ORPHA:93924 |
| Semilobar Holoprosencephaly |
|
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia |
ORPHA:220386 |
| Kabuki Syndrome 1 |
|
Preauricular pit, Hemolytic anemia, Autoimmune thrombocytopenia, Recurrent otitis media, Cafe-au-... |
OMIM:147920 |
| Yunis-Varon Syndrome |
|
Redundant neck skin, Polyhydramnios, Hydrops fetalis, Aspiration pneumonia, Pulmonary arterial hy... |
OMIM:216340 |
