| Coxsackievirus B3 Susceptibility |
|
Recurrent viral infections |
OMIM:120050 |
| Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I |
ORPHA:488191 |
| 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 |
|
Female infertility, Oocyte maturation arrest |
OMIM:620276 |
| Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility, Lack of oocyte pronucleus formation |
OMIM:617996 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... |
OMIM:615513 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
| Oocyte/Zygote/Embryo Maturation Arrest 21 |
|
Female infertility |
OMIM:620610 |
| Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
| Premature Ovarian Failure 19 |
|
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea |
OMIM:619245 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Recurrent lower re... |
OMIM:619220 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... |
OMIM:618534 |
| 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 |
| Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Recurrent viral pneumonia, Respiratory distress, Lymphopenia, R... |
OMIM:619773 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... |
OMIM:605258 |
| Tularemia |
|
Pneumonia, Localized skin lesion, Brain abscess, Cutaneous abscess, Respiratory distress, Cervica... |
ORPHA:3392 |
| Leishmaniasis |
|
Hypoalbuminemia, Skin ulcer, Pancytopenia, Leukopenia, Pallor, Abnormal macrophage morphology, Sp... |
ORPHA:507 |
| Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| Reticular Dysgenesis |
|
Abnormality of neutrophils, Skin ulcer, Aplasia/Hypoplasia of the thymus, Leukopenia, Skin rash, ... |
ORPHA:33355 |
| Immunodeficiency 114, Folate-Responsive |
|
Decreased circulating IgG level, Atopic dermatitis, Skin ulcer, Increased circulating ferritin co... |
OMIM:620603 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Pneumonia, Atopic dermatitis, Chronic otitis media, Skin ulcer, Increased circulating IgE level, ... |
ORPHA:217390 |
| Immunodeficiency 27A |
|
Pneumonia, Hypoalbuminemia, Enlarged mesenteric lymph node, Hepatosplenomegaly, Leukocytosis, Spl... |
OMIM:209950 |
| Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph... |
OMIM:308240 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... |
OMIM:606843 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, ... |
OMIM:616576 |
| Activated Pi3K-Delta Syndrome |
|
Pneumonia, Recurrent tonsillitis, Recurrent otitis media, Decreased circulating antibody level, S... |
ORPHA:397596 |
| Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ... |
OMIM:613011 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... |
OMIM:608106 |
| Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Amenorrhea, Female infertility |
OMIM:620319 |
| Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Amenorrhea, Female infertility |
OMIM:620383 |
| Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
| Classic Mycosis Fungoides |
|
Erythema, Hypopigmented skin patches, Eczematoid dermatitis, Skin ulcer, Dry skin, Abnormal lymph... |
ORPHA:2584 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Elevated circulating C-reactive protein conc... |
OMIM:604416 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Abnormality of the menstrual cycle, Female infertility |
OMIM:619009 |
| Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Female infertility, Primary amenorrhea |
OMIM:300604 |
| Caspase 8 Deficiency |
|
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve... |
OMIM:607271 |
| Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin |
OMIM:236000 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczematoid dermatitis, Increased circulating IgE level, Reduced delayed hypersensitivity, Decreas... |
OMIM:617241 |
| Immunodeficiency 18 |
|
Recurrent pneumonia, Reduced natural killer cell count, Recurrent otitis media, Lymphopenia, Abno... |
OMIM:615615 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess... |
OMIM:150550 |
| Chilblain Lupus |
|
Discoid lupus rash, Inflammatory abnormality of the skin, Erythematous papule, Skin ulcer, Chroni... |
ORPHA:90280 |
| Immunodeficiency 24 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:615897 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... |
OMIM:153600 |
| Isolated Agammaglobulinemia |
|
Pneumonia, Abnormality of neutrophils, Skin ulcer, Abnormal lymphocyte morphology, Otitis media, ... |
ORPHA:229717 |
| Schnitzler Syndrome |
|
Leukocytosis, Skin rash, Splenomegaly, Anemia, Macule, Arthritis, Lymphadenopathy, Hepatomegaly, ... |
ORPHA:37748 |
| Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired ... |
OMIM:607594 |
| Combined Immunodeficiency, X-Linked |
|
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po... |
OMIM:312863 |
| Hyperprolactinemia |
|
Oligomenorrhea, Female infertility, Menorrhagia |
OMIM:615555 |
| Immunodeficiency 51 |
|
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... |
OMIM:613953 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Lymphopenia, Decre... |
OMIM:616005 |
| Pleural Mesothelioma |
|
Respiratory distress, Abnormal pleura morphology, Pleural effusion, Hepatomegaly, Lymphadenopathy... |
ORPHA:50251 |
| Follicular Lymphoma |
|
Lymphedema, Pleural effusion, Splenomegaly, Lymphadenopathy, Abnormal peritoneum morphology, Skin... |
ORPHA:545 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Decreased circulating IgG level, Inflammation of the large intestine, Eczematoid dermatitis, Chro... |
ORPHA:98813 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Follicular hyperplasia, Increased circulating IgA level, Hepatomegaly, Autoimmune thrombocytopeni... |
OMIM:603909 |
| Necrobiosis Lipoidica |
|
Erythema, Indurated nodule, Abnormality of neutrophil physiology, Inflammatory abnormality of the... |
ORPHA:542592 |
| Autoimmune Lymphoproliferative Syndrome |
|
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, ... |
OMIM:601859 |
| Immunodeficiency 52 |
|
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat... |
OMIM:617514 |
| Immunodeficiency 25 |
|
Recurrent pneumonia, Increased circulating IgE level, Complete or near-complete absence of specif... |
OMIM:610163 |
| Staphylococcal Necrotizing Pneumonia |
|
Pneumonia, Respiratory distress, Leukopenia, Pleural effusion, Leukocytosis, Tachypnea, Pneumotho... |
ORPHA:36238 |
| X-Linked Agammaglobulinemia |
|
Recurrent pneumonia, Abnormal lung morphology, Hepatitis, Hypopigmented skin patches, Skin ulcer,... |
ORPHA:47 |
| Primary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Decreased circulating IgG level, Generalized edema, Peritoneal effusion, Intesti... |
ORPHA:90362 |
| Severe Combined Immunodeficiency, X-Linked |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level,... |
OMIM:300400 |
| Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
| Immunodeficiency 48 |
|
Pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, ... |
OMIM:269840 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Recurrent sinusitis,... |
OMIM:613494 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Enteroviral encephalitis, Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, ... |
OMIM:308230 |
| Immunodeficiency 102 |
|
Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent lower respiratory tr... |
OMIM:301082 |
| Sarcoidosis, Susceptibility To, 2 |
|
Mediastinal lymphadenopathy, Emphysema, Pleural effusion, Splenomegaly, Hepatomegaly, Pneumothora... |
OMIM:612387 |
| Pneumocystosis |
|
Pleural effusion, Interstitial pneumonitis, Increased circulating antibody level, Multiple pulmon... |
ORPHA:723 |
| Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired T cell func... |
OMIM:240500 |
| Immunodeficiency 91 And Hyperinflammation |
|
Recurrent pneumonia, Abnormal pulmonary interstitial morphology, Hemophagocytosis, Pulmonary hemo... |
OMIM:619644 |
| Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased alpha-globulin, Increased circulating antibody level |
OMIM:235900 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod... |
OMIM:247800 |
| Immunodeficiency 62 |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased proporti... |
OMIM:618459 |
| Papa Syndrome |
|
Skin ulcer, Crohn's disease, Increased inflammatory response, Myositis, Increased circulating ant... |
ORPHA:69126 |
| Boutonneuse Fever |
|
Cervical lymphadenopathy, Leukopenia, Skin rash, Maculopapular exanthema, Petechiae, Macule, Lymp... |
ORPHA:83313 |
| Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Elevated ... |
ORPHA:79126 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ... |
OMIM:300853 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Atopic dermatitis, Atelectasis, Increased circulating IgE level, Hypereosinophilia, Pleural effus... |
ORPHA:2902 |
| Aspergillosis |
|
Pneumonia, Localized skin lesion, Keratitis, Hepatitis, Increased circulating IgE level, Osteomye... |
ORPHA:1163 |
| Immunodeficiency, Common Variable, 3 |
|
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... |
OMIM:613493 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Pleural effusion, Skin rash, Splenomegaly, Joint swelling, Hepatomegaly, Lymphadenopathy, Arthrit... |
ORPHA:85414 |
| Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Rheumatoid arthritis, Skin ulcer, Atrophic scars, Increased ... |
ORPHA:48104 |
| Meige Disease |
|
Facial edema, Predominantly lower limb lymphedema, Atypical scarring of skin, Skin erosion, Skin ... |
ORPHA:90186 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hypoalbuminemia, Ascites, Hyperlipidemia, Pleural effusion, Anemia, Edema |
OMIM:603278 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... |
OMIM:620282 |
| Immunodeficiency 105 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... |
OMIM:619924 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Decreased circulating IgG level, Atopic dermatitis, Recurrent upper respiratory tract infections,... |
OMIM:618944 |
| Prolidase Deficiency |
|
Recurrent pneumonia, Skin ulcer, Eczematoid dermatitis, Petechiae, Splenomegaly, Increased circul... |
OMIM:170100 |
| Immunodeficiency 104 |
|
Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Recurrent otitis media, Otit... |
OMIM:608971 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Recurrent otitis media, Hepatosplen... |
OMIM:618982 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Ascites, Pleural effusion, Splenomegaly, Hepatomegaly, Hydrops fetalis, Chy... |
ORPHA:2414 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... |
OMIM:618987 |
| Beta-Thalassemia |
|
Cholelithiasis, Skin ulcer, Hepatitis, Microcytic anemia, Pallor, Abnormal hemoglobin, Splenomega... |
ORPHA:848 |
| Pgm3-Cdg |
|
Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi... |
ORPHA:443811 |
| Avian Influenza |
|
Pneumonia, Hypoalbuminemia, Myelitis, Hepatitis, Respiratory distress, Lymphopenia, Leukopenia, P... |
ORPHA:454836 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:613502 |
| Primary Effusion Lymphoma |
|
Dyspnea, Pericardial effusion, Pleural effusion, Abnormal peritoneum morphology |
ORPHA:48686 |
| Tempi Syndrome |
|
Polycythemia, Ascites, Increased hematocrit, Transudative pleural effusion, Abnormality of the pu... |
ORPHA:284227 |
| Fusariosis |
|
Abnormality of the spleen, Lymphopenia, Neutropenia, Subcutaneous nodule, Skin detachment, Granul... |
ORPHA:228119 |
| Tafro Syndrome |
|
Anasarca, Ascites, Hepatosplenomegaly, Pleural effusion, Splenomegaly, Leukocytosis, Hepatomegaly... |
ORPHA:457077 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
| Immunodeficiency 43 |
|
Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp... |
OMIM:241600 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... |
OMIM:613500 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermatitis, Granuloma, Lymp... |
OMIM:618935 |
| Congenital Enterovirus Infection |
|
Hypoalbuminemia, Fetal ascites, Hepatitis, Respiratory distress, Cholestasis, Leukopenia, Pleural... |
ORPHA:292 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Pleural effusion, Pneumothorax, Lymphadenopathy, Dyspnea, Pericardial effus... |
ORPHA:411703 |
| Premature Ovarian Failure 22 |
|
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea |
OMIM:620548 |
| Asherman Syndrome |
|
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... |
ORPHA:137686 |
| Q Fever |
|
Hepatosplenomegaly, Increased circulating antibody level, Hepatomegaly, Purpura, Endocarditis, Gr... |
ORPHA:781 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Recurrent upper respiratory tract infe... |
ORPHA:169154 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:612692 |
| Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased proportion o... |
OMIM:619802 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Abnormality of humoral immunity, Recurrent upper respiratory tract infections, Inflammatory abnor... |
ORPHA:277 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Leukemia, Recurrent respiratory infections, Pancytopenia, Splenomegaly, Follicular hyperplasia, I... |
OMIM:614470 |
| Aplasia Cutis Congenita |
|
Erythema, Skin ulcer, Aplasia cutis congenita, Aplasia cutis congenita over the scalp vertex, Con... |
ORPHA:1114 |
| Pulmonary Nodular Lymphoid Hyperplasia |
|
Plasmacytosis, Nodular pattern on pulmonary HRCT, Follicular hyperplasia, Dyspnea, Mediastinal ly... |
ORPHA:60026 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media... |
OMIM:618986 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren... |
OMIM:619707 |
| Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Pyoderma gangrenosum, Chronic furunculosis, Cutaneous abscess |
OMIM:619986 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Recurrent upper respiratory tract infections, Hemophagocytosis, Increased circulating ferritin co... |
OMIM:613101 |
| Polyarteritis Nodosa |
|
Erythema, Skin ulcer, Elevated circulating C-reactive protein concentration, Abnormal lung morpho... |
ORPHA:767 |
| Immunodeficiency 112 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Chronic mucocutaneous candidi... |
OMIM:620449 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619824 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... |
OMIM:611926 |
| Immunodeficiency 32B |
|
Pneumonia, Neutrophilia, Hypoalbuminemia, Impaired oxidative burst, Abnormal circulating IgG leve... |
OMIM:226990 |
| Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Monoclonal immunoglobulin M proteinemia, Increased circulating beta-2-microglobulin level, Cryogl... |
ORPHA:209004 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... |
OMIM:616452 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Decrea... |
OMIM:619281 |
| Acquired Purpura Fulminans |
|
Macular purpura, Skin rash, Macule, Thrombocytopenia, Elevated circulating C-reactive protein con... |
ORPHA:49566 |
| Brucellosis |
|
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Hepatome... |
ORPHA:1304 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, Recurrent respiratory infections, T lymphocytopenia, B lymphocyt... |
OMIM:233650 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections... |
OMIM:616100 |
| Free Sialic Acid Storage Disease |
|
Skin ulcer, Ascites, Splenomegaly, Hepatomegaly, Recurrent respiratory infections, Hydrops fetalis |
ORPHA:834 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Pneumonia, Reduced natural killer cell count, Decreased circulating IgA level, Chronic bronchitis... |
OMIM:242860 |
| Disabling Pansclerotic Morphea Of Childhood |
|
Elevated circulating C-reactive protein concentration, Lymphopenia, Skin ulcer, Neutropenia |
OMIM:620443 |
| Alpha-Thalassemia |
|
Generalized edema, Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Ba... |
ORPHA:846 |
| Mhc Class I Deficiency 1 |
|
Bronchiolitis, Bronchiectasis, Skin ulcer, Emphysema, Recurrent bronchitis, Chronic sinusitis, Ch... |
OMIM:604571 |
| Dracunculiasis |
|
Skin ulcer, Skin rash, Arthritis, Subcutaneous nodule, Recurrent cutaneous abscess formation |
ORPHA:231 |
| Chronic Granulomatous Disease |
|
Abnormality of neutrophils, Eczematoid dermatitis, Skin ulcer, Otitis media, Splenomegaly, Hepato... |
ORPHA:379 |
| Alpha-1-Antitrypsin Deficiency |
|
Reduced circulating alpha-1-antitrypsin concentration, Splenomegaly, Chronic bronchitis, Cirrhosi... |
OMIM:613490 |
| Immunodeficiency 50 |
|
Eczematoid dermatitis, Lymphopenia, Neutropenia, Recurrent respiratory infections, Decreased circ... |
OMIM:300988 |
| Immunodeficiency 115 With Autoinflammation |
|
Hypoalbuminemia, Decreased circulating IgG level, Eczematoid dermatitis, Intestinal lymphangiecta... |
OMIM:620632 |
| Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
| Hypocomplementemic Urticarial Vasculitis |
|
Angioedema, Emphysema, Reduced circulating complement concentration, Ascites, Pleural effusion, E... |
ORPHA:36412 |
| Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... |
OMIM:614699 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ... |
OMIM:300635 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Periorbital edema, Abnormal circulating IgM level, Neutro... |
OMIM:618048 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Decrease... |
OMIM:618394 |
| Pulmonary Capillary Hemangiomatosis |
|
Diffuse alveolar hemorrhage, Interlobular septal thickening, Capillary malformation, Pericardial ... |
ORPHA:199241 |
| Diffuse Palmoplantar Keratoderma, Bothnian Type |
|
Erythema, Papule, Skin ulcer |
ORPHA:2337 |
| Acute Lung Injury |
|
Pneumonia, Diffuse alveolar hemorrhage, Increased circulating interleukin 6 concentration, Abnorm... |
ORPHA:178320 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia, Recurrent bronchopulmonary infections |
OMIM:610798 |
| Lymphatic Malformation 7 |
|
Facial edema, Chylothorax, Lymphedema, Respiratory distress, Ascites, Increased nuchal translucen... |
OMIM:617300 |
| Interstitial Lung Disease 2 |
|
Usual interstitial pneumonia, Alveolar cell carcinoma, Increased circulating antibody level, Cirr... |
OMIM:178500 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Skin rash, Joint swelling, Increased proportion of CD4-positive T cells, Increased ... |
OMIM:617099 |
| Neutropenia, Chronic Familial |
|
Periodontitis, Neutropenia, Increased circulating antibody level |
OMIM:162700 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor... |
ORPHA:331206 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit... |
ORPHA:169160 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac... |
OMIM:602450 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia, Pleural effusion, Leukocytosis, Constrictive pericarditis, Anemia, Lung abscess,... |
ORPHA:67 |
| Hemochromatosis, Type 1 |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Ascites, ... |
OMIM:235200 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil... |
OMIM:617638 |
| Proliferating Trichilemmal Cyst |
|
Skin ulcer, Epidermoid cyst |
ORPHA:492 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Psoriasiform lesion, E... |
OMIM:614700 |
| Malaria |
|
Respiratory distress, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, ... |
ORPHA:673 |
| Hereditary Spherocytosis |
|
Spontaneous hemolytic crises, Cholelithiasis, Skin ulcer, Extramedullary hematopoiesis, Increased... |
ORPHA:822 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen... |
OMIM:607616 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Panhypogammaglobulinemia, Otitis media, Purulent rhinitis, Arthritis, B lymphocytopeni... |
OMIM:601457 |
| Kikuchi-Fujimoto Disease |
|
Erythema, Abnormal lymph node morphology, Pustule, Neutropenia, Skin plaque, Hepatomegaly, Elevat... |
ORPHA:50918 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Inflammation of the large intestine, Psoriasiform dermatitis, Hepatomegaly, Recurrent lower respi... |
ORPHA:436159 |
| Neutrophilic Dermatosis, Acute Febrile |
|
Erythema, Acne inversa, Panniculitis, Anemia, Elevated circulating C-reactive protein concentrati... |
OMIM:608068 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections, Abnormally low T cell... |
OMIM:618806 |
| Sweet Syndrome |
|
Inflammation of the large intestine, Predominantly dermal neutrophilic infiltrate, Erythematous p... |
ORPHA:3243 |
| Acute Erythroid Leukemia |
|
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E... |
ORPHA:318 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Urticarial plaque, Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Erythem... |
OMIM:615688 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnormal... |
ORPHA:276 |
| Dermatofibrosarcoma Protuberans |
|
Erythema, Subcutaneous nodule, Skin ulcer |
ORPHA:31112 |
| Pediatric Systemic Lupus Erythematosus |
|
Discoid lupus rash, Nephritis, Microangiopathic hemolytic anemia, Ascites, Lymphopenia, Leukopeni... |
ORPHA:93552 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Ane... |
OMIM:615285 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Erythematous papule, Hemophagocytosis, Skin ulcer, Hepatosplenomegaly, Erythematous plaque, Panni... |
ORPHA:86884 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymph... |
OMIM:618495 |
| Adult Idiopathic Neutropenia |
|
Lymphopenia, Recurrent aphthous stomatitis, Neutropenia, Monocytosis, Monocytopenia, Increased ci... |
ORPHA:2688 |
| Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Eczematoid dermatitis, Atelectasis, Skin ulcer, Increased circulating IgE level, Osteomyelitis, S... |
ORPHA:2314 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Ascites, Pleural effusion, Hyperammonemia, Nonimmune hydrops fetalis, Cirrhosis, Prolonged prothr... |
OMIM:617049 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... |
OMIM:620430 |
| Cryoglobulinemic Vasculitis |
|
Mediastinal lymphadenopathy, Skin ulcer, Abnormality of the liver, Petechiae, Splenomegaly, Cryog... |
ORPHA:91138 |
| Chilblain Lupus 1 |
|
Skin ulcer, Chilblains |
OMIM:610448 |
| Immunodeficiency, Common Variable, 11 |
|
Decreased circulating IgG level, Inflammation of the large intestine, Abnormal T cell count, Incr... |
OMIM:615767 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Pneumonia, Periodontitis, Aplastic anemia, Leukemia, Lymphopenia, Recurrent aphthous stomatitis, ... |
ORPHA:486 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c... |
OMIM:619510 |
| Immunodeficiency 23 |
|
Allergic rhinitis, Erythema, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Increased ... |
OMIM:615816 |
| Immunodeficiency 61 |
|
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased circulat... |
OMIM:300310 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormality of neutrophils, Pancytopenia, Splenomegaly, Abnormal m... |
ORPHA:2585 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Periorbital edema, Monoclonal immunoglobulin M proteinemia, Pleural effusion, ... |
ORPHA:33226 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Erythema, Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis... |
OMIM:614878 |
| Gaucher Disease Type 2 |
|
Abnormal pattern of respiration, Respiratory distress, Splenomegaly, Hepatomegaly, Recurrent resp... |
ORPHA:77260 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Skin rash, Splenomegaly, Hypertri... |
OMIM:603552 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s... |
OMIM:618969 |
| Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Pleural effusion, Lymphangioma, Abnormal lymphatic vessel morphology, Ecchymo... |
ORPHA:464329 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... |
OMIM:619632 |
| Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Partial absence of specific antibody response to tetanus vac... |
OMIM:618108 |
| Premature Ovarian Failure 13 |
|
Amenorrhea, Oligomenorrhea, Female infertility |
OMIM:617442 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Decreased circulating iron concentration, Increased circulating IgE level, Hypereosinophilia, Abn... |
OMIM:212050 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Aspiration pneumonia |
ORPHA:141152 |
| Transcobalamin Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut... |
ORPHA:859 |
| Juvenile Hyaline Fibromatosis |
|
Aplasia/Hypoplasia of the skin, Subcutaneous nodule, Papule, Skin ulcer |
ORPHA:2028 |
| Ollier Disease |
|
Anemia, Subcutaneous nodule, Lymphangioma, Skin ulcer |
ORPHA:296 |
| Coccidioidomycosis |
|
Indurated nodule, Urticarial plaque, Morbilliform rash, Abnormality of the spleen, Abscess, Eryth... |
ORPHA:228123 |
| Immunodeficiency 76 |
|
Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, Lymphadenopathy, B lymph... |
OMIM:619164 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Absent... |
OMIM:619846 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent pneumoni... |
OMIM:619752 |
| Hereditary Elliptocytosis |
|
Cholelithiasis, Stomatocytosis, Neonatal hyperbilirubinemia, Skin ulcer, Abnormal erythrocyte mor... |
ORPHA:288 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Ascites, Oligohydramnios, Pleural effusion, Hyperammonemia, Cardiomegaly, Hyperalaninemia, Perica... |
OMIM:614702 |
| Beta-Thalassemia Intermedia |
|
Abnormality of iron homeostasis, Cholelithiasis, Skin ulcer, Extramedullary hematopoiesis, Persis... |
ORPHA:231222 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hypoalbuminemia, Bone marrow hypocellularity, Recurrent pneumonia, Nephritis, Respiratory distres... |
OMIM:617303 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Pallor, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Decreased c... |
OMIM:620210 |
| Primary Sjögren Syndrome |
|
Arteritis, Xerostomia, Dry skin, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-posi... |
ORPHA:289390 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Abnormal pulmonary interstitial morphology, Atelectasis, Hilar lymph node enlargement, Recurrent ... |
OMIM:620233 |
| Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentrat... |
ORPHA:542323 |
| Slc35A1-Cdg |
|
Pneumonia, Giant platelets, Respiratory distress, Pulmonary hemorrhage, Abnormal platelet granule... |
ORPHA:238459 |
| Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Skin ulcer, Dermal atrophy, Lymphopenia, Interstitial pneum... |
ORPHA:454831 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... |
OMIM:619126 |
| Immunodeficiency 92 |
|
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... |
OMIM:619652 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer ... |
OMIM:600802 |
| Sarcoidosis, Susceptibility To, 1 |
|
Inflammation of the large intestine, Mediastinal lymphadenopathy, Emphysema, Pancytopenia, Perica... |
OMIM:181000 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Facial edema, Edema, Anasarca, Ascites, Reduc... |
ORPHA:567546 |
| Secondary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Anasarca, Decreased circulating IgG1 level, Reduced circulating transferrin conc... |
ORPHA:90363 |
| Multiple Myeloma |
|
Elevated circulating creatinine concentration, Pleural effusion, Splenomegaly, Increased circulat... |
ORPHA:29073 |
| Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
| Premature Ovarian Failure 20 |
|
Female infertility, Secondary amenorrhea |
OMIM:619938 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Acral ulceration, Skin ulcer, Foot osteomyelitis |
ORPHA:139578 |
| Simple Cryoglobulinemia |
|
Nephritis, Monoclonal immunoglobulin M proteinemia, Localized skin lesion, Viral hepatitis, Parap... |
ORPHA:91139 |
| Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Abnormality of iron homeostasis, Skin ulcer, Reduced hemoglobin A, Extramedulla... |
ORPHA:231226 |
| C1Q Deficiency 2 |
|
Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Facial erythema,... |
OMIM:620321 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Predominantly lower limb lymphedema, Ascites, Dermal atrophy, Pleural effusion, Abnormality of th... |
ORPHA:69735 |
| Takayasu Arteritis |
|
Skin ulcer, Abnormal pattern of respiration, Increased inflammatory response, Anemia, Arthritis, ... |
ORPHA:3287 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Recurrent otitis media, Lymphopenia, Respiratory tract infection, Splenomegaly, Autoim... |
ORPHA:444463 |
| Familial Mediterranean Fever |
|
Erysipelas, Pleural effusion, Leukocytosis, Splenomegaly, Crohn's disease, Orchitis, Peritonitis,... |
OMIM:249100 |
| Idiopathic Achalasia |
|
Recurrent aspiration pneumonia, Bronchitis, Decreased circulating prealbumin concentration |
ORPHA:930 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreas... |
OMIM:614069 |
| Immunodeficiency 69 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Hepatosplenomegaly,... |
OMIM:618963 |
| Livedoid Vasculopathy |
|
Abnormality of complement system, Erythematous papule, Skin ulcer, Polycythemia, Macular purpura,... |
ORPHA:542643 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... |
OMIM:617765 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Pallor... |
ORPHA:90039 |
| Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut... |
OMIM:618282 |
| Prolidase Deficiency |
|
Erythema, Skin ulcer, Dry skin, Splenomegaly, Crusting erythematous dermatitis, Aplasia/Hypoplasi... |
ORPHA:742 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Panhypogammaglobulinemia, Abnormal T cell morphology, Agammagl... |
OMIM:615214 |
| Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... |
OMIM:615206 |
| Poems Syndrome |
|
Visceromegaly, Polycythemia, Ascites, Pleural effusion, Splenomegaly, Increased circulating antib... |
ORPHA:2905 |
| Zika Virus Disease |
|
Myelitis, Skin rash, Infectious encephalitis, Arthritis, Thrombocytopenia, Conjunctivitis, Maculo... |
ORPHA:448237 |
| Premature Ovarian Failure 6 |
|
Female infertility, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Secondary ... |
OMIM:612310 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased lymphocyte proliferation in response to anti-CD3, Increased circulating IgE level, Hepa... |
OMIM:606367 |
| Malignant Atrophic Papulosis |
|
Constrictive pericarditis, Papule, Pleural effusion |
OMIM:602248 |
| Wiskott-Aldrich Syndrome |
|
Inflammation of the large intestine, Abnormal eosinophil morphology, Acute leukemia, Microcytic a... |
ORPHA:906 |
| Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Angioedema, Hepatosplenomegaly, Thrombocytosis, Erythroderm... |
ORPHA:3260 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Bone marrow hypocellularity, Abnormality of the hepatic vasculature, Nodular regenerative hyperpl... |
ORPHA:210136 |
| Chédiak-Higashi Syndrome |
|
Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Hypopro... |
ORPHA:167 |
| Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia, Lymphadenopath... |
ORPHA:100024 |
| Hydrops Fetalis |
|
Generalized edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetalis, Abnormality ... |
ORPHA:1041 |
| Hyperkeratosis Lenticularis Perstans |
|
Aplasia/Hypoplasia of the skin, Papule, Skin ulcer |
ORPHA:409 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
| Immunodeficiency 13 |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Lympho... |
OMIM:615518 |
| Bone Marrow Failure Syndrome 4 |
|
Bone marrow hypocellularity, Eczematoid dermatitis, Dry skin, Leukopenia, Thrombocytopenia, Anemi... |
OMIM:618116 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Splenomegaly, Hyperammonemia, Anemia, Pancreatitis, Neutropenia, Thrombocyt... |
ORPHA:79312 |
| X-Linked Sideroblastic Anemia |
|
Pallor, Splenomegaly, Anemia, Dyspnea, Abnormality of iron homeostasis |
ORPHA:75563 |
| Common Variable Immunodeficiency |
|
Pneumonia, Recurrent respiratory infections, Emphysema, Lymphopenia, Abnormality of the liver, He... |
ORPHA:1572 |
| Glycogen Storage Disease Ii |
|
Pleural effusion, Splenomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly,... |
OMIM:232300 |
| Alpha-Heavy Chain Disease |
|
Ascites, Splenomegaly, Hypocalcemia, Dysgammaglobulinemia, Anemia, Lymphadenopathy, Hepatomegaly |
ORPHA:100025 |
| Congenital Heart Block |
|
Peripheral edema, Oligohydramnios, Pleural effusion, Pallor, Pericardial effusion, Hydrops fetalis |
ORPHA:60041 |
| Scedosporiosis |
|
Pneumonia, Bronchitis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Septic arthritis, Subcutan... |
ORPHA:449280 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Erythema, Pustular rash, Lymphopenia, Leukopenia, Malar rash, Skin rash, Follicular hyperplasia, ... |
OMIM:615934 |
| Neuropathy, Hereditary Sensory, Type Iic |
|
Acral ulceration |
OMIM:614213 |
| Beta-Thalassemia Major |
|
Hepatic fibrosis, Abnormality of iron homeostasis, Skin ulcer, Reduced hemoglobin A, Extramedulla... |
ORPHA:231214 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... |
OMIM:265300 |
| Whim Syndrome 1 |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Decre... |
OMIM:193670 |
| Limited Cutaneous Systemic Sclerosis |
|
Pulmonary fibrosis, Skin ulcer, Hypopigmented skin patches |
ORPHA:220402 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Erythroi... |
OMIM:266200 |
| Lymphoproliferative Syndrome 2 |
|
Decreased lymphocyte proliferation in response to mitogen, Recurrent pneumonia, Aplastic anemia, ... |
OMIM:615122 |
| Acrogeria |
|
Aplasia/Hypoplasia of the skin, Skin ulcer, Excessive wrinkled skin, Thin skin |
ORPHA:2500 |
| Granulomatous Disease, Chronic, X-Linked |
|
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Atelectasis, Granu... |
OMIM:306400 |
| Lichen Planopilaris |
|
Hypopigmented skin patches, Skin ulcer, Hepatitis, Dermal atrophy, Papule |
ORPHA:525 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyperkalemia, Pleural empyema, Abnormal circulating chemokine concentration, Pallor, Hypocalcemia... |
ORPHA:544482 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Atopic dermatitis, Decreased proportion of memory B cells, Decreased specific anti-polysaccharide... |
ORPHA:70593 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... |
ORPHA:766 |
| Immunodeficiency 10 |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:612783 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... |
OMIM:615139 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... |
OMIM:202700 |
| Sézary Syndrome |
|
Dry skin, Abnormal pleura morphology, Abnormal lymphocyte morphology, Splenomegaly, Abnormal immu... |
ORPHA:3162 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the liver, Skin ulcer, Neoplasm of the lung, Lymphadenopathy |
ORPHA:424019 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly, Skin rash, Hypertriglyceridemia |
OMIM:619175 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,... |
OMIM:619705 |
| Ciliary Dyskinesia, Primary, 37 |
|
Female infertility, Situs inversus totalis, Dextrocardia |
OMIM:617577 |
| Aplasia Cutis-Myopia Syndrome |
|
Aplasia cutis congenita, Skin ulcer |
ORPHA:1117 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Facial edema, Erythema, Angioedema, Respiratory distress, Tongue edema, Laryngeal edema, Palpebra... |
ORPHA:100057 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Reduced natural killer cell count, Ecz... |
OMIM:243700 |
| Bacterial Toxic-Shock Syndrome |
|
Localized skin lesion, Abscess, Tachypnea, Glomerulonephritis, Recurrent skin infections, Osteomy... |
ORPHA:36234 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Recurrent upper respiratory tract infections, Anasarca, Hypomagnesemia, Ascites,... |
OMIM:618183 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Intraalveolar phospholipid accumulation, Leukocytosis, Splenomegaly, Recurrent respiratory infect... |
OMIM:618042 |
| Infantile Myofibromatosis |
|
Skin ulcer, Subcutaneous nodule, Hypercalcemia, Neoplasm of the pancreas, Neoplasm of the lung |
ORPHA:2591 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function |
ORPHA:231393 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... |
OMIM:242700 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Atelectasis, Respiratory distress, Recurrent respiratory infections, Chronic otit... |
OMIM:619466 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD... |
ORPHA:572 |
| Leukocyte Adhesion Deficiency, Type I |
|
Periodontitis, Chronic mucocutaneous candidiasis, Skin ulcer, Osteomyelitis, Leukocytosis, Rectal... |
OMIM:116920 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... |
ORPHA:35078 |
| Immunodeficiency 22 |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Ascites, Decreased... |
OMIM:615758 |
| Primary Sclerosing Cholangitis |
|
Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrhosis, Polyclonal elevati... |
ORPHA:171 |
| Glycoprotein Storage Disease |
|
Gout, Splenomegaly |
OMIM:232900 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Aplasia/Hypoplasia of the skin, Purpura, Skin ulcer, Thin skin |
ORPHA:743 |
| Erythema Elevatum Diutinum |
|
Skin nodule, Skin vesicle, Skin rash, Increased circulating antibody level |
ORPHA:90000 |
| Systemic Capillary Leak Syndrome |
|
Pleural effusion, Leukocytosis, Pulmonary edema, Pancreatitis, Myocarditis, Pedal edema, Pericard... |
ORPHA:188 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Respiratory distress, Elevated circulating carcinoembryonic antigen concent... |
ORPHA:264675 |
| Lymphatic Malformation 6 |
|
Facial edema, Generalized edema, Chylothorax, Intestinal lymphangiectasia, Ascites, Lymphedema, P... |
OMIM:616843 |
| Immunodeficiency 96 |
|
Decreased circulating IgG level, Increased mean corpuscular volume, Eczematoid dermatitis, Increa... |
OMIM:619774 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Panniculitis, Com... |
OMIM:301081 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia, Aplasia of th... |
OMIM:102700 |
| Agammaglobulinemia, X-Linked |
|
Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Bronchiolitis obliterans... |
OMIM:300755 |
| Pseudo-Torch Syndrome 2 |
|
Ascites, Pleural effusion, Petechiae, Thrombocytopenia, Hepatomegaly |
OMIM:617397 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decreased circulatin... |
ORPHA:169079 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia |
OMIM:118830 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Recurrent pneumonia, Increased circulating IgE level, Recurrent bronchiolitis, Pustule, Polyhydra... |
OMIM:616069 |
| Trimethylaminuria |
|
Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia |
OMIM:602079 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level, Atrophic scars, Milia, Dermal atrophy, Skin plaque, Subcutaneous... |
ORPHA:89843 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hemophagocytosis, Erythroderma, Neutropenia, Hepatomegaly, Jaundice, Reduced natural killer cell ... |
ORPHA:540 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Leukocytosis, Pneumothorax, Elevated circulating C-reactive protein concent... |
ORPHA:1302 |
| Nocardiosis |
|
Lymphadenitis, Scleritis, Subcutaneous nodule, Endocarditis, Cutaneous abscess, Osteomyelitis, Pl... |
ORPHA:31204 |
| Reynolds Syndrome |
|
Xerostomia, Skin ulcer, Ascites, Skin rash, Infectious encephalitis, Keratoconjunctivitis sicca, ... |
ORPHA:779 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Acute leukemia, Prolonged bleeding time, Lymphedema, Pallor, Leukocy... |
ORPHA:3226 |
| Autoinflammation With Infantile Enterocolitis |
|
Hypoalbuminemia, Diffuse alveolar hemorrhage, Reduced natural killer cell count, Increased circul... |
OMIM:616050 |
| Granulomatosis With Polyangiitis |
|
Diffuse alveolar hemorrhage, Keratitis, Skin ulcer, Elevated bronchoalveolar lavage fluid neutrop... |
OMIM:608710 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... |
ORPHA:37042 |
| Lymphatic Malformation 8 |
|
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion |
OMIM:618773 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Increased circulating ferritin concentration, Sideroblastic anemia, Pallor, Splenomegaly, Anemia,... |
OMIM:615234 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Osteomyelitis, Skin rash, Splenomegaly, Abscess, Pustule, Joint swelling, E... |
OMIM:612852 |
| Immunodeficiency 87 And Autoimmunity |
|
Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, Elevated circulating C-reac... |
OMIM:619573 |
| Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul... |
OMIM:237800 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... |
ORPHA:2643 |
| Catastrophic Antiphospholipid Syndrome |
|
Skin ulcer, Microangiopathic hemolytic anemia, Abnormal circulating cytokine concentration, Coomb... |
ORPHA:464343 |
| Familial Multiple Nevi Flammei |
|
Skin ulcer, Hypermelanotic macule, Nevus flammeus, Papule, Edema |
ORPHA:624 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, In... |
OMIM:619313 |
| Mogs-Cdg |
|
Decreased circulating IgG level, Generalized edema, Respiratory distress, Decreased circulating I... |
ORPHA:79330 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Pneumonia, Hypouricemia, Decreased lymphocyte proliferation in response to mitogen, Recurrent upp... |
OMIM:613179 |
| Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Recurrent otitis media, Recurrent respiratory infections, Bronchiolitis |
OMIM:615993 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly |
ORPHA:139406 |
| Adult-Onset Still Disease |
|
Erythema, Neutrophilia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Lymp... |
ORPHA:829 |
| Omenn Syndrome |
|
Pneumonia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Hepatomegaly, Erythroderma, Lymp... |
OMIM:603554 |
| Juvenile Dermatomyositis |
|
Erythema, Skin ulcer, Dry skin, Skin rash, Elevated circulating creatine kinase concentration, My... |
ORPHA:93672 |
| Respiratory Distress Syndrome In Premature Infants |
|
Atelectasis, Respiratory distress, Pulmonary edema, Tachypnea, Dyspnea, Edema |
OMIM:267450 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Dry skin, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Punctate keratitis, Kerat... |
OMIM:617388 |
| Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Chilblains, Increased circulating Interferon-alpha concentration, Thrombocytopenia,... |
OMIM:615010 |
| Drug-Induced Lupus Erythematosus |
|
Malar rash, Petechiae, Elevated circulating creatine kinase concentration, Anemia, Decreased circ... |
ORPHA:231111 |
| Primary Biliary Cholangitis |
|
Hypoalbuminemia, Hepatic fibrosis, Biliary cirrhosis, Hepatitis, Abnormal circulating lipid conce... |
ORPHA:186 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Chronic muco... |
ORPHA:911 |
| Toxic Epidermal Necrolysis |
|
Erythema, Skin ulcer, Respiratory distress, Abnormal pleura morphology, Pancreatitis, Macule, Neu... |
ORPHA:537 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos... |
OMIM:610913 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Keratitis, Eczematoid dermatitis, Increased circulating IgE level, Recurrent otitis media, Eosino... |
OMIM:618523 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Decreased circulating carnitine concentration, Respiratory distress, Abnormality of the liver, He... |
ORPHA:254864 |
| Ovarian Fibroma |
|
Ascites, Peritonitis, Pleural effusion, Mesenteric cyst |
ORPHA:314473 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Good Syndrome |
|
Thymoma, Aplasia/Hypoplasia of the thymus, Recurrent skin infections, Abnormal leukocyte morpholo... |
ORPHA:169105 |
| Lassa Fever |
|
Facial edema, Jaundice, Dyspnea, Conjunctivitis, Increased circulating IgM level |
ORPHA:99824 |
| Familial Nasal Acilia |
|
Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress, Chronic sinusiti... |
ORPHA:922 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Osteomyeliti... |
OMIM:608184 |
| Noonan Syndrome 8 |
|
Eczematoid dermatitis, Pleural effusion, Palmoplantar cutis laxa, Left ventricular hypertrophy, P... |
OMIM:615355 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... |
ORPHA:3261 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Pulmonary hemorrhage, Hepatosplenomegaly, Pancytopenia, A... |
ORPHA:79124 |
| Felty Syndrome |
|
Synovitis, Neutropenia, Recurrent pharyngitis, Hepatomegaly, Subcutaneous nodule, Chronic otitis ... |
ORPHA:47612 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Recurrent aphthous stomatitis, Leukocytosis, Skin rash, Splenomegaly, Lymphadenopathy, Arthritis,... |
OMIM:611762 |
| Immunodeficiency 19 |
|
Abnormal B cell morphology, Abnormal natural killer cell morphology, Recurrent otitis media, Recu... |
OMIM:615617 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Hyperammonemia, Anemia, Pancreatitis, Neutropenia, Thrombocytopenia, Hepato... |
ORPHA:289916 |
| Buerger Disease |
|
Skin ulcer |
ORPHA:36258 |
| Cryptococcosis |
|
Pneumonia, Respiratory distress, Osteomyelitis, Nodular pattern on pulmonary HRCT, Pleural effusi... |
ORPHA:1546 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Hemorrhagic Fever-Renal Syndrome |
|
Pneumonia, Increased circulating interleukin 6 concentration, Hyperphosphatemia, Respiratory dist... |
ORPHA:340 |
| Selective Igm Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce... |
ORPHA:331235 |
| Sarcoidosis |
|
Abnormal lymph node morphology, Abnormal pleura morphology, Erythema nodosum, Skin plaque, Hepato... |
ORPHA:797 |
| Wiskott-Aldrich Syndrome |
|
Inflammation of the large intestine, Increased circulating IgE level, Abnormal delayed hypersensi... |
OMIM:301000 |
| Omenn Syndrome |
|
Pneumonia, Edema, Dry skin, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, E... |
ORPHA:39041 |
| Iga Pemphigus |
|
Annular cutaneous lesion, Skin erosion, Cutaneous abscess, Neutrophilic infiltration of the skin,... |
ORPHA:555905 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Periorbital edema, Lymphopenia, Skin rash, Splenomegaly, Increased circulating antibody level, My... |
OMIM:617591 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia, Anasarca, Pleural effusion, Normochromic anemia, Thrombocytopenia, Edema |
OMIM:254900 |
| Acute Myelomonocytic Leukemia |
|
Pallor, Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia, Dyspnea |
ORPHA:517 |
| Hennekam Syndrome |
|
Chylothorax, Erysipelas, Lymphedema, Ascites, Lymphopenia, Lymphangioma, Splenomegaly, Hypocalcem... |
ORPHA:2136 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia, Respiratory distress, Ascites, Hepatosplenomegaly, Portal hypertension, Polyhydr... |
ORPHA:367 |
| Lymphangioleiomyomatosis |
|
Chylothorax, Atelectasis, Lymphedema, Emphysema, Ascites, Pulmonary lymphangiomyomatosis, Abnorma... |
ORPHA:538 |
| Immunodeficiency 35 |
|
Increased circulating IgE level, Recurrent respiratory infections |
OMIM:611521 |
| Gorham-Stout Disease |
|
Osteomyelitis, Lymphangioma, Pleural effusion, Edema |
ORPHA:73 |
| Microscopic Polyangiitis |
|
Erythema, Uveitis, Skin ulcer, Episcleritis, Skin rash, Increased inflammatory response, Peritoni... |
ORPHA:727 |
| Brooke-Spiegler Syndrome |
|
Skin nodule, Skin-colored papule, Skin ulcer, Nodular changes affecting the eyelids |
ORPHA:79493 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Tachypnea, Elevated circulating... |
OMIM:616414 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Sideroblastic anemia, Pallor, Hepatomegaly |
OMIM:613561 |
| Kimura Disease |
|
Increased circulating IgE level, Eosinophilia, Follicular hyperplasia, Lymphadenopathy |
ORPHA:482 |
| Granulomatosis With Polyangiitis |
|
Papule, Periorbital edema, Skin ulcer, Recurrent intrapulmonary hemorrhage, Otitis media, Skin ra... |
ORPHA:900 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Increased serum pyruvate |
ORPHA:238329 |
| Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... |
OMIM:187950 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... |
ORPHA:75564 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Splenomegaly, Increased serum bile a... |
OMIM:619868 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Impotence, Cardiomyopathy |
ORPHA:85447 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... |
OMIM:610921 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Petechiae, Splenomegaly, ... |
OMIM:620296 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Recurrent upper respiratory tract infections, Eczematoid dermatitis, Exocrine pancreatic insuffic... |
OMIM:615952 |
| Macrophage Activation Syndrome |
|
Hypoalbuminemia, Abnormal circulating interleukin concentration, Hepatitis, Abnormality of tumor ... |
ORPHA:158061 |
| Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Petechiae, Splenomegaly, Thrombocytopenia, Hepatomegaly, Subcutaneous nod... |
ORPHA:158029 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Osteomyelitis, Skin ulcer, Penetrating foot ulcers |
ORPHA:36386 |
| Bronchopulmonary Dysplasia |
|
Atelectasis, Respiratory distress, Emphysema, Central apnea, Dyspnea, Abnormal lung morphology, P... |
ORPHA:70589 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Recurrent respiratory infections, Pleural effusion, Edema |
OMIM:618606 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hypoalbuminemia, Erysipelas, Intestinal lymphangiectasia, Lymphedema, Pleural effusion, Nonimmune... |
OMIM:235510 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Abnormal circulating interleukin concentration, Reduced natural killer cell count, Hemophagocytos... |
ORPHA:158057 |
| Chronic Mucocutaneous Candidiasis |
|
Erythema, Papule, Hepatitis, Skin ulcer, Skin rash, Recurrent respiratory infections, Cheilitis |
ORPHA:1334 |
| Angiostrongyliasis |
|
Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ... |
ORPHA:74 |
| Zygomycosis |
|
Pustule, Acute infectious pneumonia, Neutropenia, Skin plaque, Periorbital edema, Endocarditis, P... |
ORPHA:73263 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Pallor, Splenomegaly, Anemia of inadequate production, Reticulocytosis, An... |
OMIM:615631 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ascites, Pleural effusion, Cardiomegaly, Polyhydramnios, Hydrops fetalis, Pulmonary hypoplasia |
OMIM:616897 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Dyspnea, Elevated circulating creatine kinase concentration, Aspiration pneumonia |
ORPHA:90117 |
| Dyskeratosis Congenita |
|
Bone marrow hypocellularity, Periodontitis, Hypopigmented skin patches, Skin ulcer, Abnormality o... |
ORPHA:1775 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Abnormal circulating interleukin concentration, Increased circulating interleukin 6 co... |
ORPHA:70578 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Oligohydramnios, Mildly elevated creatine kinase, Skin dimple |
ORPHA:1143 |
| Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections |
|
Atopic dermatitis, Increased circulating IgE level, Eosinophilic infiltration of the esophagus, E... |
OMIM:620532 |
| Blau Syndrome |
|
Posterior uveitis, Erythema, Keratitis, Skin ulcer, Xerostomia, Dry skin, Abnormality of the live... |
ORPHA:90340 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia |
OMIM:314000 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Skin ulcer |
ORPHA:312 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Lymphedema, Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level... |
OMIM:300291 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... |
ORPHA:183675 |
| Attenuated Chédiak-Higashi Syndrome |
|
Recurrent respiratory infections, Skin ulcer |
ORPHA:352723 |
| Cholestasis-Lymphedema Syndrome |
|
Erysipelas, Lymphedema, Neonatal cholestatic liver disease, Splenomegaly, Hyperlipidemia, Cirrhos... |
OMIM:214900 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased circulating total IgG, Pustular rash, Recurrent otitis media, Follicular hyperplasia, E... |
OMIM:619381 |
| Griscelli Syndrome |
|
Bone marrow hypocellularity, Hypopigmented skin patches, Hepatitis, Abnormal circulating lipid co... |
ORPHA:381 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypoalbuminemia, Bone marrow hypocellularity, Decreased circulating IgG level, Respiratory distre... |
ORPHA:505248 |
| Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Increased circulating iron concentration, Increased circulating ferritin concen... |
OMIM:613313 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media... |
OMIM:266265 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Increased circula... |
OMIM:194380 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Hepatomegaly, Reduced natural killer cell act... |
OMIM:603553 |
| Graft Versus Host Disease |
|
Pneumonia, Skin erosion, Inflammatory abnormality of the skin, Hemophagocytosis, Fasciitis, Acute... |
ORPHA:39812 |
| Hb Bart'S Hydrops Fetalis |
|
Oligohydramnios, Pallor, Abnormal hemoglobin, Splenomegaly, Polyhydramnios, Anemia, Hepatomegaly,... |
ORPHA:163596 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Unconjugated hyperbilirubinemia, Pallor, Reticulocytosis, Leukocytosis, Anisocytosis, Splenomegal... |
OMIM:300908 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal ascites, Polyhydramnios, Splenomegaly, Hepatomegaly, Hydrops fetalis |
OMIM:619462 |
| Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Reticulocytosis, Splen... |
OMIM:210250 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Xerostomia, Skin ulcer, Arthritis, Dyspnea, Pulmonary fibrosis |
ORPHA:220393 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... |
OMIM:620135 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... |
OMIM:618052 |
| Sepsis In Premature Infants |
|
Increased circulating interleukin 6 concentration, Pallor, Petechiae, Leukocytosis, Splenomegaly,... |
ORPHA:90051 |
| Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Reduced haptoglobin level |
OMIM:612126 |
| Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Osteomyelitis, Skin ulcer |
ORPHA:2218 |
| Dermatoosteolysis, Kirghizian Type |
|
Aplasia/Hypoplasia of the skin, Keratitis, Skin ulcer, Osteoarthritis |
ORPHA:1657 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Elevated circulating creatine kinase concentration |
OMIM:614399 |
| Hepatoportal Sclerosis |
|
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of t... |
ORPHA:64743 |
| Aregenerative Anemia |
|
Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Pallor... |
ORPHA:101096 |
| Wild Type Attr Amyloidosis |
|
Pleural effusion, Pulmonary edema, Hepatomegaly, Abnormal pulmonary interstitial morphology, Peda... |
ORPHA:330001 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Hepatomegaly, Increased serum pyruvate |
OMIM:614741 |
| Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
| Gaucher Disease Type 1 |
|
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Increased circulating antibody level, Cirrhosis,... |
ORPHA:77259 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatosplenomegaly, Increased LDL cholesterol concentration, Splenomeg... |
OMIM:616828 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Decreased circulating IgG level, Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, ... |
OMIM:301078 |
| Flynn-Aird Syndrome |
|
Dermal atrophy, Skin ulcer |
ORPHA:2047 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Eczematoid dermatitis... |
OMIM:620565 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Elevated circulating acylcarnitine concentration, Hepatic steatosis |
ORPHA:26792 |
| Riddle Syndrome |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Erythema, Bronchitis, Decreased ... |
ORPHA:420741 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Elevated circulating creatinine concentration, Oligohydramnios, Left ventri... |
OMIM:616733 |
| Crimean-Congo Hemorrhagic Fever |
|
Morbilliform rash, Pancytopenia, Erythema nodosum, Neutrophilia, Hepatomegaly, Jaundice, Purpura,... |
ORPHA:99827 |
| Immunodeficiency 40 |
|
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Inters... |
OMIM:616433 |
| Plague |
|
Localized skin lesion, Inflammation of the large intestine, Lymphadenitis, Skin ulcer, Chapped li... |
ORPHA:707 |
| Chronic Graft Versus Host Disease |
|
Erythema, Xerostomia, Skin ulcer, Urinary bladder inflammation, Fasciitis, Ascites, Pancytopenia,... |
ORPHA:99921 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia |
OMIM:613978 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Eczematoid dermatitis, Thrombocytopenia |
OMIM:619751 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Generalized edema, Hemophagocytosis, Increased circulating ferritin concentratio... |
OMIM:267700 |
| Hellp Syndrome |
|
Generalized edema, Microangiopathic hemolytic anemia, Decreased mean corpuscular hemoglobin conce... |
ORPHA:244242 |
| Atelis Syndrome 1 |
|
Eczematoid dermatitis, Decreased lymphocyte proliferation in response to anti-CD3, Dry skin, Leuk... |
OMIM:620184 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome... |
OMIM:616860 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Erythema, Hepatitis, Angioedema, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pu... |
ORPHA:139402 |
| Cystic Echinococcosis |
|
Cholestatic liver disease, Localized skin lesion, Pulmonary cyst, Peritoneal abscess, Hyperbiliru... |
ORPHA:400 |
| Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Ascites, Hyperammonemia, Splenomegaly, Cirrhosis, Anomalous splenoportal venous... |
OMIM:271500 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Cholestasis, Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Hepatomeg... |
OMIM:620010 |
| Ovarian Fibrothecoma |
|
Ascites, Peritonitis, Pleural effusion |
ORPHA:314478 |
| Cinca Syndrome |
|
Abnormal granulocyte morphology, Abnormality of neutrophils, Leukocytosis, Splenomegaly, Hepatome... |
ORPHA:1451 |
| Erdheim-Chester Disease |
|
Osteomyelitis, Xanthelasma, Pleural effusion, Skin rash, Joint swelling, Anemia, Dyspnea, Abnorma... |
ORPHA:35687 |
| Japanese Encephalitis |
|
Neutrophilia, Abnormal pattern of respiration, Respiratory distress, Increased circulating antibo... |
ORPHA:79139 |
| American Trypanosomiasis |
|
Localized skin lesion, Periorbital edema, Pallor, Skin rash, Splenomegaly, Infectious encephaliti... |
ORPHA:3386 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Erythema, Skin fissure, Skin ulcer, Neoplasm of the lung |
ORPHA:659 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a... |
ORPHA:231154 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia, D... |
ORPHA:231401 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Leukopenia, Hyperglycinemia, Hyperammonemia, Pancreatitis, Neutropenia, Thr... |
OMIM:251000 |
| Immunodeficiency 58 |
|
Allergic rhinitis, Esophagitis, Psoriasiform lesion, Recurrent cutaneous abscess formation, Chron... |
OMIM:618131 |
| Immunodeficiency 116 |
|
Recurrent respiratory infections, Bronchiectasis, Absence of CD8-positive T cells |
OMIM:608957 |
| Dermatomyositis |
|
Erythema, Abnormal eosinophil morphology, Dry skin, Lung adenocarcinoma, Periorbital edema, Helio... |
ORPHA:221 |
| Immunodeficiency 67 |
|
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... |
OMIM:607676 |
| Autosomal Agammaglobulinemia |
|
Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulinemia, Arthritis, Sinusitis, Ne... |
ORPHA:33110 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Inflammation of the large intestine, Granuloma, Cholestasis, Hyperbili... |
ORPHA:562639 |
| Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis |
OMIM:147050 |
| Leptospirosis |
|
Uveitis, Hepatitis, Respiratory distress, Pulmonary hemorrhage, Pleural effusion, Skin rash, Opti... |
ORPHA:509 |
| Mixed Connective Tissue Disease |
|
Xerostomia, Hepatomegaly, Purpura, Myositis, Lymphadenopathy, Arthritis, Mediastinal lymphadenopa... |
ORPHA:809 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Rectal abscess, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent ... |
OMIM:601495 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Facial edema, Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splen... |
OMIM:618398 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Decreased circulating antibody level, Bronchiectasis, Atelectasis |
OMIM:615872 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Pallor, Splenomegaly, Autoimmune hemolytic anemia, Exertional dyspnea |
ORPHA:90037 |
| Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Eosinophilia, Erythroderma, Scaling skin |
OMIM:270300 |
| Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Hypotriglyceridemia, Acral ulceration, Decreased circulating apolipoprotein B concentration, Foot... |
OMIM:256840 |
| Pulmonary Arteriovenous Malformation |
|
Bacterial endocarditis, Brain abscess, Pulmonary hemorrhage, Hemothorax, Iron deficiency anemia, ... |
ORPHA:2038 |
| Behçet Disease |
|
Acne, Recurrent aphthous stomatitis, Pleural effusion, Splenomegaly, Infectious encephalitis, Inc... |
ORPHA:117 |
| Systemic Sclerosis |
|
Digital ulcer, Osteomyelitis, Acral ulceration, Joint swelling, Elevated circulating creatine kin... |
ORPHA:90291 |
| Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Pallor, Petechiae, Leukocytosis, ... |
ORPHA:824 |
| Autoimmune Hepatitis |
|
Inflammation of the large intestine, Increased total bilirubin, Ascites, Splenomegaly, Sclerosing... |
ORPHA:2137 |
| Calciphylaxis |
|
Hyperphosphatemia, Skin ulcer |
ORPHA:280062 |
| Bronchiolitis Obliterans |
|
Pneumonia, Respiratory tract infection, Dyspnea, Bronchiolitis obliterans, Bronchiectasis |
ORPHA:1303 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, P... |
OMIM:612840 |
| Holocarboxylase Synthetase Deficiency |
|
Perioral eczema, Eczematoid dermatitis, Respiratory distress, Hyperammonemia, Keratoconjunctiviti... |
ORPHA:79242 |
| Dehydrated Hereditary Stomatocytosis |
|
Neonatal hyperbilirubinemia, Anemia of inadequate production, Increased circulating hemoglobin co... |
ORPHA:3202 |
| Immunodeficiency 47 |
|
Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I... |
OMIM:300972 |
| Kasabach-Merritt Phenomenon |
|
Hypopnea, Microangiopathic hemolytic anemia, Respiratory distress, Leukopenia, Petechiae, Reticul... |
ORPHA:2330 |
| Lujo Hemorrhagic Fever |
|
Facial edema, Periorbital edema, Generalized edema, Atelectasis, Respiratory distress, Lymphopeni... |
ORPHA:319213 |
| Carnitine Deficiency, Systemic Primary |
|
Decreased circulating carnitine concentration, Respiratory distress, Decreased carnitine level in... |
OMIM:212140 |
| Chronic Beryllium Disease |
|
Mediastinal lymphadenopathy, Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial ... |
ORPHA:133 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly |
OMIM:610539 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Osteomyelitis, Skin ulcer |
OMIM:613640 |
| Leukocyte Adhesion Deficiency |
|
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... |
ORPHA:2968 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Erythema, Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Hepatomegaly, Jaundice... |
OMIM:620376 |
| Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... |
OMIM:133180 |
| Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Aspiration pneumonia |
OMIM:609528 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Eczematoid dermatitis, Hypo... |
ORPHA:83471 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Osteomyelitis, Acral ulceration |
OMIM:613115 |
| Rift Valley Fever |
|
Macular edema, Hepatitis, Skin rash, Infectious encephalitis, Jaundice, Thrombocytopenia, Anemia,... |
ORPHA:319251 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... |
OMIM:254210 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Pneumonia, Abnormal T cell count, Panhypogammaglobulinemia, Recurrent otitis media, Pyoderma, Inf... |
OMIM:307200 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Glomerulonephritis, Lymphade... |
OMIM:619375 |
| Immunodeficiency 12 |
|
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent aphthous stomatitis, Comple... |
OMIM:615468 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Anasarca, Respiratory distress, Ascites, Apnea, Pleural effusion, Peripheral edema, Pulmonary ede... |
OMIM:261740 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Elevated circulating creatine kinase concentration |
OMIM:608799 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Recurrent upper respiratory tract infections, Respiratory distress, Type II pneumocyte hypertroph... |
OMIM:263000 |
| Whim Syndrome |
|
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Atel... |
ORPHA:51636 |
| Immunodeficiency 9 |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Recurrent aphthous... |
OMIM:612782 |
| Idiopathic Bronchiectasis |
|
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Dyspnea, Recurrent lower resp... |
ORPHA:60033 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Chylothorax, Erysipelas, Skin ulcer, Lymphedema, Dry skin, Pleural effusion, Scaling skin, Leukem... |
ORPHA:2526 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Pneumonia, Polyhydramnios |
ORPHA:596 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress |
OMIM:616341 |
| Sneddon Syndrome |
|
Decreased circulating total IgM, Atrophic scars, Lymphopenia |
OMIM:182410 |
| Giant Cell Arteritis |
|
Skin ulcer, Abnormal pleura morphology, Arthritis, Recurrent pharyngitis, Mediastinal lymphadenop... |
ORPHA:397 |
| Harderoporphyria |
|
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Reticulo... |
OMIM:618892 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decreased FOXP3-expressing T c... |
OMIM:304790 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Hepatic steatosis, Splenomegaly, Hypertriglyceridemia, Hepatomegaly |
OMIM:614480 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Pneumonia, Intraalveolar phospholipid accumulation, Brain abscess, Lung abscess, Dyspnea, Recurre... |
OMIM:610910 |
| Netherton Syndrome |
|
Allergic rhinitis, Decreased circulating IgG level, Eczematoid dermatitis, Angioedema, Increased ... |
OMIM:256500 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... |
OMIM:605809 |
| Perching Syndrome |
|
Respiratory distress |
OMIM:617055 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Polyhydramnios, Splenomegaly, Aplasia/Hypoplasia of the lungs, Hepatomegaly, Hydrops fetalis |
ORPHA:2204 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Erythema, Pulmonary cyst, Recurrent upper respiratory tract infections, Recurrent pneumonia, Ecze... |
OMIM:147060 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea |
ORPHA:1832 |
| Recurrent Respiratory Papillomatosis |
|
Recurrent pneumonia, Recurrent upper respiratory tract infections, Atelectasis, Respiratory distr... |
ORPHA:60032 |
| Blau Syndrome |
|
Uveitis, Nongranulomatous uveitis, Eczematoid dermatitis, Skin ulcer, Joint swelling, Cystoid mac... |
OMIM:186580 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level, Late onset atopic dermatitis |
OMIM:221700 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Left ventricular hypertrophy, Dyspnea, Elevated circulating creatine kinase... |
ORPHA:86812 |
| Ciliary Dyskinesia, Primary, 25 |
|
Recurrent pneumonia, Polysplenia, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis... |
OMIM:615482 |
| Ring Chromosome 22 Syndrome |
|
Pleural effusion, Edema, Lymphedema |
ORPHA:1446 |
| Hemochromatosis, Type 2A |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg... |
OMIM:602390 |
| Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Ascites, Pleural effusion, Polyhydramnios, Nonimmune hydrops fetalis, Hepat... |
OMIM:620369 |
| Immunoglobulin A Vasculitis |
|
Erythema, Skin ulcer, Angioedema, Episcleritis, Skin rash, Infectious encephalitis, Pustule, Orch... |
ORPHA:761 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Petechiae, Splenomegaly,... |
OMIM:619463 |
| Malakoplakia |
|
Inflammatory abnormality of the skin, Skin ulcer, Urinary bladder inflammation, Skin rash, Follic... |
ORPHA:556 |
| Infantile Systemic Hyalinosis |
|
Lymphedema, Subcutaneous nodule, Skin ulcer, Aplasia/Hypoplasia of the thymus |
ORPHA:2176 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Left ventricular hypertrophy, Hyperalaninemia |
OMIM:616974 |
| Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:615577 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Pneumonia, Increased circulating free fatty acid level, Inflammatory abnormality of the skin, Res... |
ORPHA:26793 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Neonatal hyperbilirubinemia, Respiratory distress, Episodic tachypnea, Pallor, Hepatic steatosis,... |
ORPHA:348 |
| Immunodeficiency 56 |
|
Recurrent pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent sinusitis, Chron... |
OMIM:615207 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Polyhydramnios |
OMIM:300580 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Ascites, Hepatosplenomegaly, Apnea, Polyhydramnios, Petechiae, Splenomegaly... |
OMIM:608013 |
| Radio-Renal Syndrome |
|
Respiratory distress, Chylothorax, Dyspnea, Pleural effusion |
ORPHA:3015 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Bone marrow hypocellularity, Usual interstitial pneumonia, Reticular pattern on pulmonary HRCT, A... |
OMIM:614742 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Ciliary Dyskinesia, Primary, 9 |
|
Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro... |
OMIM:612444 |
| Ovarian Hyperstimulation Syndrome |
|
Generalized edema, Ascites, Peripheral edema, Pleural effusion, Pulmonary edema, Enlarged polycys... |
ORPHA:64739 |
| Galactosemia Iii |
|
Hepatomegaly, Jaundice, Hypergalactosemia, Splenomegaly |
OMIM:230350 |
| Gaucher Disease |
|
Pancytopenia, Increased circulating antibody level, Cirrhosis, Polyclonal elevation of IgM, Hepat... |
ORPHA:355 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia |
OMIM:206400 |
| Melioidosis |
|
Pneumonia, Brain abscess, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, Abnormalit... |
ORPHA:31202 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula... |
OMIM:208900 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Recurrent respiratory infections, Keratoconjunctivitis sicca, Skin ulcer |
ORPHA:1806 |
| Griscelli Syndrome Type 2 |
|
Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Petechiae, Lymphadenopathy, Neutrop... |
ORPHA:79477 |
| Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Increased circulating antibody level |
ORPHA:411593 |
| Familial Keratoacanthoma |
|
Subcutaneous nodule, Papule, Skin ulcer |
ORPHA:493 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Facial edema, Xerostomia, Increased circulating IgG4 level, Myositis, Increased circulating IgA l... |
ORPHA:79078 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... |
OMIM:603902 |
| Adult Polyglucosan Body Disease |
|
Skin ulcer |
ORPHA:206583 |
| Neuroblastoma |
|
Increased circulating ferritin concentration, Respiratory distress, Anemic pallor, Lymphadenopath... |
ORPHA:635 |
| Ovarian Dysgenesis 3 |
|
Female infertility, Primary amenorrhea |
OMIM:614324 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Erythema, Recurrent aphthous stomatitis, Peritonitis, Increased circulating IgA level, Lymphadeno... |
ORPHA:343 |
| Malignant Atrophic Papulosis |
|
Arteritis, Dermal atrophy, Pleural effusion, Peritonitis, Papule |
ORPHA:679 |
| Primary Ciliary Dyskinesia |
|
Abnormal sperm motility, Female infertility, Atrial situs ambiguous, Abnormal heart morphology, A... |
ORPHA:244 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Pneumonia, Abnormal circulating interleukin concentration, Salmonella osteomyelitis, Lymphadenitis |
ORPHA:319552 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Ascites, Oligohydramnios, Polyhydramnios, Splenomegaly, Aplasia/Hypoplasia of the lungs, Anemia |
ORPHA:1046 |
| Methylmalonic Aciduria, Cblb Type |
|
Elevated circulating propionylcarnitine concentration, Respiratory distress, Pancytopenia, Hyperg... |
OMIM:251110 |
| Capillary Malformation-Arteriovenous Malformation |
|
Chylothorax, Lymphedema, Hypopigmented macule, Capillary malformation, Abnormality of the lymphat... |
ORPHA:137667 |
| Amoebiasis Due To Free-Living Amoebae |
|
Pneumonia, Increased red blood cell count, Granuloma, Skin ulcer, Respiratory tract infection, In... |
ORPHA:68 |
| Werner Syndrome |
|
Skin ulcer, Lack of skin elasticity, Aplasia/Hypoplasia of the skin, Pulmonary artery stenosis, N... |
ORPHA:902 |
| Hypoglossia With Situs Inversus |
|
Respiratory distress, Asplenia, Polysplenia |
OMIM:612776 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Erythema, Uveitis, Periorbital edema, Erysipelas, Fasciitis, Leukocytosis, Skin rash, Splenomegal... |
ORPHA:32960 |
| Nodular Non-Suppurative Panniculitis |
|
Erythema, Splenomegaly, Aplasia/Hypoplasia of the skin, Hepatomegaly, Inflammatory abnormality of... |
ORPHA:33577 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Dyspnea, Acute infectious pneumonia |
ORPHA:140896 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Elevated circulating creatine kinase concentration |
OMIM:615042 |
| Neonatal Alloimmune Neutropenia |
|
Pneumonia, Jaundice, Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
| Netherton Syndrome |
|
Eczematoid dermatitis, Increased circulating IgE level, Emphysema, Dry skin, Skin rash, Erythrode... |
ORPHA:634 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
| Immunodeficiency 17 |
|
Abnormal B cell morphology, Eczematoid dermatitis, Chronic decreased circulating IgG2, Recurrent ... |
OMIM:615607 |
| Apolipoprotein C-Ii Deficiency |
|
Eruptive xanthomas, Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, ... |
OMIM:207750 |
| Tangier Disease |
|
Decreased HDL cholesterol concentration, Dry skin, Splenomegaly, Elevated circulating apolipoprot... |
OMIM:205400 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Osteomyelitis, Acral ulceration, Foot osteomyelitis |
OMIM:162400 |
| Hypotrichosis Simplex Of The Scalp |
|
Increased circulating IgE level, Allergic rhinitis, Atopic dermatitis, Scaling skin |
ORPHA:90368 |
| Ebola Hemorrhagic Fever |
|
Hepatitis, Lymphopenia, Leukopenia, Increased circulating antibody level, Thrombocytopenia, Dyspn... |
ORPHA:319218 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
| Alkuraya-Kucinskas Syndrome |
|
Pericardial effusion, Pleural effusion, Edema |
OMIM:617822 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
| Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
| Acrodermatitis Enteropathica |
|
Erythema, Skin ulcer, Dry skin, Pustule, Conjunctivitis, Cheilitis, Blepharitis |
ORPHA:37 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly |
ORPHA:615 |
| Igg4-Related Aortitis |
|
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... |
ORPHA:449400 |
| Congenital Analbuminemia |
|
Hypoalbuminemia, Facial edema, Edema, Oligohydramnios, Hyperlipidemia, Increased circulating anti... |
ORPHA:86816 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Parkes Weber Syndrome |
|
Abnormal circulating B-type natriuretic peptide concentration, Skin ulcer, Capillary malformation... |
ORPHA:90307 |
| Immunodeficiency 7 |
|
Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenop... |
OMIM:615387 |
| Tick-Borne Encephalitis |
|
Myelitis, Leukopenia, Abnormal circulating cytokine concentration, Leukocytosis, Thrombocytopenia... |
ORPHA:297 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Impai... |
OMIM:614576 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Reticulocytos... |
OMIM:235700 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent pneumoni... |
OMIM:607143 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
| Poikiloderma With Neutropenia |
|
Recurrent pneumonia, Recurrent otitis media, Dermal atrophy, Leukopenia, Skin rash, Recurrent sin... |
OMIM:604173 |
| Alg12-Cdg |
|
Hypoalbuminemia, Recurrent pneumonia, Abnormal circulating IgM level, Hypocholesterolemia, Comple... |
ORPHA:79324 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Blepharitis, Perioral erythema, Increased circulating IgE level, Pustule, Erythroderma, Perianal ... |
OMIM:614328 |
| B4Galt1-Cdg |
|
Inflammatory abnormality of the skin, Splenomegaly, Redundant neck skin, Elevated circulating cre... |
ORPHA:79332 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Respiratory distress, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Neutropenia, ... |
OMIM:250940 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Oligohydramnios, Thin skin, Skin dimple |
ORPHA:261304 |
| Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Polyhydramnios, Edema |
ORPHA:1423 |
| Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Facial edema, Cholestasis, Predominantly dermal neutrophilic infiltrate, Leukocytos... |
ORPHA:293173 |
| Pfapa Syndrome |
|
Splenomegaly, Infectious encephalitis, Lymphadenopathy, Arthritis, Recurrent pharyngitis, Hepatom... |
ORPHA:42642 |
| Idiopathic Pulmonary Hemosiderosis |
|
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Nodular pat... |
ORPHA:99931 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... |
OMIM:619658 |
| Immunodeficiency 42 |
|
Recurrent aphthous stomatitis, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of... |
OMIM:616622 |
| Sea-Blue Histiocyte Disease |
|
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Portal fibrosis, Increased total iron binding capacity, Hyperbilirubinemia, Por... |
OMIM:616278 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Bacterial endocarditis, Cholelithiasis, Hepatic fibrosis, Skin ulcer, Abnormality of the spleen, ... |
ORPHA:2072 |
| Farber Disease |
|
Hepatic fibrosis, Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress... |
ORPHA:333 |
| Young Syndrome |
|
Bronchiectasis, Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Rec... |
OMIM:279000 |
| Ciliary Dyskinesia, Primary, 33 |
|
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,... |
OMIM:616726 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28 |
|
Respiratory distress, Abnormal circulating creatine kinase concentration, Elevated circulating cr... |
OMIM:620375 |
| Ring Chromosome Y Syndrome |
|
Male hypogonadism, Female infertility, Azoospermia, Streak ovary, Abnormal spermatogenesis, Male ... |
ORPHA:261529 |
| Farber Lipogranulomatosis |
|
Periarticular subcutaneous nodules, Splenomegaly, Lipogranulomatosis, Joint swelling, Arthritis, ... |
OMIM:228000 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... |
ORPHA:860 |
| Mevalonic Aciduria |
|
Fluctuating splenomegaly, Morbilliform rash, Hepatosplenomegaly, Leukocytosis, Skin rash, Elevate... |
OMIM:610377 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Aspiration pneumonia, Apnea, Oligohydramnios, Hyperammonemia, Neutropenia, Bronchiectasis |
OMIM:618253 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Recurrent acute respiratory tract infection, Paradoxical respiration |
OMIM:620011 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Atelectasis, Respiratory tract infection, Pulmonary edema, Tachypnea, Nasal flaring |
ORPHA:70587 |
| Yellow Nail Syndrome |
|
Biliary tract neoplasm, Recurrent respiratory infections, Lymphedema, Hypoplasia of lymphatic ves... |
ORPHA:662 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Recurrent pneumonia |
ORPHA:254875 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Polyhydramnios, Elevated circulating creatine kinase concentration, Hepatom... |
ORPHA:329178 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Macrocephaly/Autism Syndrome |
|
Recurrent otitis media, Lymphopenia, Splenomegaly, Cutis laxa, Hepatomegaly, Decreased circulatin... |
OMIM:605309 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
| Cholestasis-Lymphedema Syndrome |
|
Lymphedema, Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract ... |
ORPHA:1414 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Otitis media, Sinusitis, Recurrent respiratory infections, Bronchiectasis |
OMIM:606763 |
| Bloom Syndrome |
|
Pneumonia, Decreased circulating IgG level, Cheilitis, Recurrent tonsillitis, Bronchitis, Decreas... |
ORPHA:125 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Chylothorax, Juvenile myelomonocytic leukemia, Lymphedema, Hepatosplenomegaly, Splenomegaly, Poly... |
OMIM:613563 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress |
OMIM:617977 |
| Alpha-1-Antitrypsin Deficiency |
|
Reduced circulating alpha-1-antitrypsin concentration, Bronchitis, Hepatitis, Emphysema, Cholesta... |
ORPHA:60 |
| Letterer-Siwe Disease |
|
Hepatosplenomegaly, Pallor, Anemia, Seborrheic dermatitis, Thrombocytopenia, Neutropenia, Dyspnea... |
OMIM:246400 |
| Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
| Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Lymphadenopathy, Neoplasm of the lung |
ORPHA:142 |
| Transcobalamin Ii Deficiency |
|
Decreased circulating IgG level, Decreased circulating IgA level, Pancytopenia, Macrocytic anemia... |
OMIM:275350 |
| Legionnaires Disease |
|
Bone marrow hypocellularity, Hepatitis, Lymphopenia, Abnormal pleura morphology, Splenomegaly, In... |
ORPHA:549 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Polyhydramnios, Thymus hyperplasia, Chylothorax |
OMIM:619036 |
| Noonan Syndrome 10 |
|
Increased nuchal translucency, Pleural effusion, Palmoplantar cutis laxa, Left ventricular hypert... |
OMIM:616564 |
| Bronchogenic Cyst |
|
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal p... |
ORPHA:2357 |
| Indolent Systemic Mastocytosis |
|
Mastocytosis, Increased proportion of CD25+ mast cells, Skin rash, Splenomegaly, Lymphadenopathy,... |
ORPHA:98848 |
| Rigid Spine Syndrome |
|
Pneumonia |
ORPHA:97244 |
| Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Pancytopenia, Hyperglycinemia, Hyperammonemia, Anemia, Neutropenia, Thrombo... |
OMIM:251100 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy |
OMIM:600649 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Recurrent pneumonia, Respiratory distress, Leukopenia, Polyhydramnios, Hepatic steatosis, Neutrop... |
OMIM:616271 |
| Amyloidosis, Hereditary Systemic 2 |
|
Cholestasis, Splenomegaly, Skin rash, Hepatomegaly, Edema |
OMIM:105200 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Erythema, Splenomegaly, Autoimmune hemolytic anemia, Myositis, Lymphadenopathy, Hepatomegaly, Pan... |
OMIM:619183 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic mucocutaneous candidia... |
OMIM:614868 |
| Aicardi-Goutieres Syndrome 7 |
|
Pancytopenia, Chilblains, Hepatic steatosis, Increased circulating antibody level, Hepatomegaly, ... |
OMIM:615846 |
| Yellow Fever |
|
Pancreatic hyperplasia, Elevated circulating creatinine concentration, Hyperbilirubinemia, Leukoc... |
ORPHA:99829 |
| Immunodeficiency 49 |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Psoriasiform dermatitis, Pulmo... |
OMIM:617237 |
| Shigellosis |
|
Pneumonia, Microangiopathic hemolytic anemia, Ulcerative colitis, Cholestasis, Abnormal blood ion... |
ORPHA:810 |
| Mgat2-Cdg |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Respi... |
ORPHA:79329 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress |
OMIM:300934 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Hyperammonemia, Acute hyperammonemia, Hyperglutaminemia, Hyperalaninemia, H... |
ORPHA:927 |
| Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Abnormal circulating copper concentration, Abnormal circulating ceruloplasmin concentration, Resp... |
OMIM:620306 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Lymphopenia, Joint swelling, Recurrent s... |
OMIM:607944 |
| Mounier-Kühn Syndrome |
|
Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections |
ORPHA:3347 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly |
OMIM:618852 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Splenomega... |
OMIM:612301 |
| Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating hemoglob... |
OMIM:133100 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Skin rash, Splenomegaly, Increased... |
OMIM:260920 |
| Inflammatory Pseudotumor Of The Liver |
|
Biliary tract abnormality, Increased hepatitis B virus antibody level, Neoplasm of the liver, Cir... |
ORPHA:90003 |
| Congenital Syphilis |
|
Pneumonia, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Palmoplantar scaling skin... |
ORPHA:499009 |
| Hereditary Acrokeratotic Poikiloderma |
|
Erythema, Xerostomia, Hypopigmented skin patches, Eczematoid dermatitis, Skin ulcer, Pustule, Ker... |
ORPHA:2907 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Pneumothorax, Atelectasis, Aspiration pneumonia |
ORPHA:70588 |
| Igg4-Related Kidney Disease |
|
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased circulating IgE level, ... |
ORPHA:449395 |
| Hermansky-Pudlak Syndrome 2 |
|
Recurrent pneumonia, Reduced natural killer cell count, Periodontitis, Enlarged platelet dense gr... |
OMIM:608233 |
| Alveolar Echinococcosis |
|
Pulmonary cyst, Biliary cirrhosis, Cutaneous abscess, Abnormal mesentery morphology, Portal hyper... |
ORPHA:284 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Nodular regenerative hyperplasia of liver, Usual interstitial pneumonia, Increased mean corpuscul... |
OMIM:620367 |
| Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, Xanthomatosis, Hepatomegaly, Ly... |
OMIM:257200 |
| Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Hashimoto thyroiditis, Lymphadenopathy |
ORPHA:97285 |
| Interstitial Lung Disease 1 |
|
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele... |
OMIM:619611 |
| Chronic Pneumonitis Of Infancy |
|
Intercostal retractions, Respiratory distress, Tachypnea, Hyperventilation, Mediastinal lymphaden... |
ORPHA:91359 |
| Thrombocytopenia 1 |
|
Decreased mean platelet volume, Eczematoid dermatitis, Increased circulating IgE level, Petechiae... |
OMIM:313900 |
| Incontinentia Pigmenti |
|
Erythema, Keratitis, Hypopigmented skin patches, Skin ulcer, Skin rash, Infectious encephalitis, ... |
ORPHA:464 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Hypercholesterolemia, Hypertri... |
OMIM:612526 |
| Tracheobronchopathia Osteochondroplastica |
|
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Exertional dyspnea, Recurre... |
ORPHA:3348 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cell count, Dec... |
ORPHA:221139 |
| Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
| Ciliary Dyskinesia, Primary, 14 |
|
Recurrent pneumonia, Polysplenia, Otitis media, Chronic bronchitis, Chronic sinusitis, Recurrent ... |
OMIM:613807 |
| Bloom Syndrome |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Leukemia, Decrease... |
OMIM:210900 |
| Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:66661 |
| Nipah Virus Disease |
|
Respiratory distress, Recurrent pharyngitis, Infectious encephalitis |
ORPHA:99825 |
| Tetanus |
|
Respiratory distress, Localized skin lesion, Tachypnea, Elevated circulating creatine kinase conc... |
ORPHA:3299 |
| Fetal Cytomegalovirus Syndrome |
|
Hepatitis, Petechiae, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice, Conjugated ... |
ORPHA:294 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Impaired ADP-induced platelet aggregation, Petechiae, Splenomegaly, Ecchymosis, I... |
OMIM:153670 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub... |
ORPHA:158048 |
| Immunodeficiency 54 |
|
Reduced natural killer cell count, Splenomegaly, Lymphadenopathy, Hepatomegaly, Recurrent respira... |
OMIM:609981 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... |
OMIM:224120 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Hypoplastic spleen |
ORPHA:89844 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Respiratory distress, Elevated circulating creatinine concentr... |
OMIM:274150 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Ciliary Dyskinesia, Primary, 21 |
|
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis |
OMIM:615294 |
| Postinfectious Vasculitis |
|
Pneumonia, Bacterial endocarditis, Abnormality of humoral immunity, Inflammatory abnormality of t... |
ORPHA:48435 |
| Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea, Hydrops fetalis |
ORPHA:45452 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormality of the hepatic vasculature, Peripheral edema, Pleural effusion, Cardiomegaly, Hepatom... |
ORPHA:1677 |
| Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pleural effusion, Pancreatic calcification, Pancreatitis, Panc... |
OMIM:167800 |
| Gamma-Heavy Chain Disease |
|
Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Skin rash, Autoimmune hemolyt... |
ORPHA:100026 |
| Cushing Disease |
|
Skin ulcer, Striae distensae, Lymphopenia, Leukocytosis, Ecchymosis, Recurrent cutaneous fungal i... |
ORPHA:96253 |
| Chitayat Syndrome |
|
Respiratory distress, Abnormal pulmonary interstitial morphology, Recurrent respiratory infection... |
OMIM:617180 |
| Myelofibrosis |
|
Hemophagocytosis, Extramedullary hematopoiesis, Pallor, Splenomegaly, Hepatomegaly, Myeloprolifer... |
OMIM:254450 |
| Scleromyxedema |
|
Abnormal pulmonary artery morphology, Paraproteinemia, Skin-colored papule, Elevated circulating ... |
ORPHA:167635 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Dermal atrophy, ... |
OMIM:127550 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Pancolitis, Decreased T cell a... |
OMIM:618213 |
| Ciliary Dyskinesia, Primary, 23 |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi... |
OMIM:615451 |
| Complement Factor B Deficiency |
|
Pneumonia, Decreased circulating complement factor B concentration, Peritonitis |
OMIM:615561 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Bronchiectasis, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis... |
OMIM:244400 |
| Cholesteryl Ester Storage Disease |
|
Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly, Jaundice |
ORPHA:75234 |
| Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Leukocytosis, Splenomegaly, Synovitis, Pustu... |
ORPHA:77297 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice |
OMIM:224100 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress |
ORPHA:91130 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Pneumonia, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia, Chron... |
ORPHA:169090 |
| Neurooculocardiogenitourinary Syndrome |
|
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:618652 |
| Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
| Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
| Subcorneal Pustular Dermatosis |
|
Pustule, Erythema, Rheumatoid arthritis, Increased circulating antibody level |
ORPHA:48377 |
| Listeriosis |
|
Arteritis, Abscess, Pustule, Jaundice, Endocarditis, Osteomyelitis, Peritonitis, Hepatic granulom... |
ORPHA:533 |
| Microsporidiosis |
|
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke... |
ORPHA:2552 |
| Idiopathic Pulmonary Fibrosis |
|
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Exertional dyspnea, Honeycomb ... |
ORPHA:2032 |
| Stt3B-Cdg |
|
Respiratory distress, Thrombocytopenia |
ORPHA:370924 |
| Leprosy |
|
Urticarial plaque, Hypopigmented macule, Penetrating foot ulcers, Abnormality of the spleen, Abno... |
ORPHA:548 |
| Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,... |
OMIM:278000 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Increased ... |
OMIM:602347 |
| Scrub Typhus |
|
Skin rash, Splenomegaly, Infectious encephalitis, Macule, Lymphadenopathy, Myocarditis, Dyspnea, ... |
ORPHA:83317 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Micronodular cirrhosis, Hepatocellular necrosis, Respiratory distress, Cholestasis, Ascites, Acra... |
OMIM:256810 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni... |
ORPHA:217563 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Spontaneous pneumothorax, Facial wrinkling, Dry skin, Pleural effusion, Pulmonary arteriovenous m... |
OMIM:606721 |
| Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the liver, Skin ulcer, Neoplasm of the lung, Lymphadenopathy |
ORPHA:424016 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Petechiae, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly |
OMIM:611490 |
| Al Amyloidosis |
|
Hypoalbuminemia, Howell-Jolly bodies, Xerostomia, Abnormality of the liver, Peripheral edema, Inc... |
ORPHA:85443 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:269920 |
| Cold Agglutinin Disease |
|
Pallor, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia |
ORPHA:56425 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Cholelithiasis, Respiratory distress, Oligohydramnios, Cholecystitis, Macrocyt... |
OMIM:615512 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Pneumonia, Atypical scarring of skin, Inflammatory abnormality of the skin, Keratitis, Skin ulcer... |
ORPHA:95455 |
| Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Left atrial e... |
OMIM:300280 |
| Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Recurrent otitis media, Chronic sinusitis, Recurrent sinusitis,... |
OMIM:615504 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Thrombocytopenia |
OMIM:615597 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Atypical scarring of skin, Periodontitis, Skin ulcer, Atelectasis, Joint swelling, Hyponatremia, ... |
ORPHA:534 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Dyspnea, Polyhydramnios |
ORPHA:2759 |
| Hajdu-Cheney Syndrome |
|
Periodontitis, Skin ulcer, Dry skin, Splenomegaly, Hepatomegaly, Recurrent respiratory infections |
ORPHA:955 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Hepatomegaly, Tachypnea, Hyperglycinemia |
OMIM:614299 |
| Immunodeficiency 68 |
|
Lymphadenitis, Abscess, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural ... |
OMIM:612260 |
| Myopathy And Diabetes Mellitus |
|
Respiratory distress |
ORPHA:2596 |
| Shwachman-Diamond Syndrome |
|
Aplastic anemia, Pancytopenia, Increased serum bile acid concentration, Impaired neutrophil chemo... |
ORPHA:811 |
| Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis |
OMIM:618695 |
| Adult Syndrome |
|
Dry skin, Melanocytic nevus, Skin ulcer, Thin skin |
ORPHA:978 |
| Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
| Spherocytosis, Type 4 |
|
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:612653 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Mildly elevated creatine kinase |
ORPHA:1145 |
| Mercury Poisoning |
|
Respiratory distress, Dyspnea, Interstitial pneumonitis, Hypokalemia |
ORPHA:330021 |
| Mirage Syndrome |
|
Aspiration pneumonia, Lymphopenia, Leukopenia, Petechiae, Hyponatremia, Thrombocytopenia, Anemia,... |
OMIM:617053 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... |
OMIM:115197 |
| Igg4-Related Submandibular Gland Disease |
|
Facial edema, Xerostomia, Abnormal pancreas morphology, Increased circulating IgE level, Reduced ... |
ORPHA:449432 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Pneumonia, Right ventricular hypertrophy, Elevated circulating creatine kinase concentration |
OMIM:253700 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... |
ORPHA:85451 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor, Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Exertional dyspnea... |
ORPHA:90033 |
| Cryohydrocytosis |
|
Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia |
OMIM:185020 |
| Gaucher Disease, Type I |
|
Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Anemia, Thrombocytopenia, Dyspnea, Abnor... |
OMIM:230800 |
| Spherocytosis, Type 2 |
|
Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... |
OMIM:616649 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Preauricular pit, Increased nuchal translucency, Pleural effusion |
ORPHA:453499 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hypermethioninemia, Respiratory distress, Cholestasis, Ascites, Hyperbilirubinem... |
OMIM:617156 |
| N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Hyperammonemia, Hyperglutamatemia, Tachypnea, Low plasma citrulline, Hyperg... |
OMIM:237310 |
| Glycogen Storage Disease Ixb |
|
Hepatomegaly, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content |
OMIM:261750 |
| Spherocytosis, Type 1 |
|
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... |
OMIM:182900 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Pulmonary artery dilatation, Annular pancreas, Abnormal lung lobation, Alveolar capillary dysplas... |
OMIM:265380 |
| Igg4-Related Pachymeningitis |
|
Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Reduced circulating comple... |
ORPHA:449427 |
| Castleman Disease |
|
Increased circulating interleukin 6 concentration, Anasarca, Follicular hyperplasia, Abdominal ma... |
ORPHA:160 |
| Isolated Atp Synthase Deficiency |
|
Respiratory distress, Hepatomegaly, Hyperalaninemia, Hyperammonemia |
ORPHA:254913 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atelectasis, Respiratory distress, Cystic pattern on pulmonary HRCT, Tachypnea, Recurrent respira... |
OMIM:610978 |
| Adult-Onset Nemaline Myopathy |
|
Paraproteinemia, Mildly elevated creatine kinase |
ORPHA:171442 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Neonatal Lupus Erythematosus |
|
Aplastic anemia, Pancytopenia, Malar rash, Erythematous plaque, Skin rash, Abnormality of the liv... |
ORPHA:398124 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Perioral erythema, Impaired T cell function, Dry skin, Splenomegaly, Decreased serum zinc, Hepato... |
OMIM:201100 |
| Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Septic arthritis, Osteomyelitis, Acral ulceration, Osteoarthritis |
OMIM:608654 |
| Laryngomalacia |
|
Respiratory distress |
OMIM:150280 |
| Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... |
ORPHA:1457 |
| Typhoid |
|
Skin rash, Splenomegaly, Infectious encephalitis, Macule, Hepatomegaly, Abnormal pulmonary inters... |
ORPHA:99745 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Dyspnea, Hypersensiti... |
ORPHA:79127 |
| Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Intercostal retractions |
ORPHA:137935 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczematoid dermatitis, Thyroiditis |
OMIM:618985 |
| Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly |
OMIM:306000 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Erythema, Increased circulating interleukin 8 concentration, Recurrent otitis media, Microcytic a... |
OMIM:256040 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
| Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Pericardial constriction, Myocardial fibrosis |
OMIM:253250 |
| Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatic fibrosis, Inflammation of the large intestine, Lymphadenitis, Eczematoid dermatitis, Chol... |
OMIM:615895 |
| Colchicine Poisoning |
|
Hypomagnesemia, Respiratory distress, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypo... |
ORPHA:31824 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly |
OMIM:619051 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Elevated circulating creatine kinase concentration |
OMIM:620166 |
| Insulin-Resistance Syndrome Type B |
|
Pneumonia, Decreased circulating complement factor B concentration, Nephritis, Biliary cirrhosis,... |
ORPHA:2298 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Hepatomegaly, Increased serum pyruvate, Irregular respiration |
OMIM:604377 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Chylothorax |
OMIM:620278 |
| Gray Platelet Syndrome |
|
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... |
OMIM:139090 |
| Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
|
Abnormality of exocrine pancreas physiology, Bronchiectasis, Recurrent bronchiolitis, Chronic bro... |
OMIM:613021 |
| Gaucher Disease Type 3 |
|
Pancytopenia, Splenomegaly, Increased circulating antibody level, Anemia, Thrombocytopenia, Hepat... |
ORPHA:77261 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Lymphedema, Pancreatic lymphangiectasis, Ascites, Polyhydramnios, Splenomegaly, Redundant neck sk... |
OMIM:235255 |
| Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Dry skin, Prolonged neonatal jaundice |
ORPHA:226313 |
| Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Polyhydramnios, Recurrent aspiration pneumonia |
OMIM:619971 |
| Craniofaciofrontodigital Syndrome |
|
Lower eyelid edema, Premature skin wrinkling, Respiratory distress, Polyhydramnios, Cardiomegaly,... |
ORPHA:363705 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory tract infection, Elevated circulating creatine kinase concentra... |
ORPHA:308552 |
| O'Sullivan-Mcleod Syndrome |
|
Eosinophilia, Increased circulating antibody level |
ORPHA:99965 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
| Lysinuric Protein Intolerance |
|
Abnormality of humoral immunity, Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol ... |
ORPHA:470 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Abnormality of complement system, Hepatic steatosis, Splenomegaly, Xanthomatosis, Aplasia/Hypopla... |
ORPHA:2348 |
| Congenital Diaphragmatic Hernia |
|
Respiratory distress, Pulmonary hypoplasia |
ORPHA:2140 |
| Acquired Methemoglobinemia |
|
Respiratory distress, Methemoglobinemia, Dyspnea |
ORPHA:464453 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Decreased libido, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, Amen... |
ORPHA:465508 |
| Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Lymphopenia, Increased circulating antibody level, Jaundic... |
ORPHA:99826 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Recurrent pneumonia, Aspiration pneumonia, Respiratory distress, Apnea, Hypoventilation |
ORPHA:314655 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... |
ORPHA:2041 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating glutaric acid concentration, Hepatic periportal necrosis, Respiratory distre... |
OMIM:231680 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Severe B lymphocytopenia, Recu... |
ORPHA:293978 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Acne, Small cell lung carcinoma, Skin ulcer, Abnormal lymph node morphology, Pancreatic adenocarc... |
ORPHA:99889 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly |
OMIM:252920 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
| Hyperlipoproteinemia, Type Id |
|
Eruptive xanthomas, Increased circulating chylomicron concentration, Splenomegaly, Hypertriglycer... |
OMIM:615947 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... |
OMIM:185000 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... |
ORPHA:508533 |
| Elliptocytosis 1 |
|
Pallor, Splenomegaly, Elliptocytosis, Jaundice, Hemolytic anemia |
OMIM:611804 |
| C3 Glomerulopathy |
|
Paraproteinemia, Elevated circulating creatinine concentration, Decreased circulating complement ... |
ORPHA:329918 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Hyperbilirubinemia, Splenomegaly,... |
OMIM:613812 |
| Ciliary Dyskinesia, Primary, 28 |
|
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... |
OMIM:615505 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Allergic rhinitis, Exocrine pancreatic insufficiency, Splenomegaly, Skin rash, Anemia of inadequa... |
OMIM:612714 |
| Ciliary Dyskinesia, Primary, 35 |
|
Recurrent pneumonia, Abdominal situs ambiguus, Chronic sinusitis, Chronic rhinitis, Chronic otiti... |
OMIM:617092 |
| Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune hydrops fetalis, Conjunct... |
OMIM:153400 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Micronodular cirrh... |
OMIM:251880 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy |
OMIM:256550 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
| Syndromic Diarrhea |
|
Hepatic fibrosis, Peripheral pulmonary artery stenosis, Abnormality of iron homeostasis, Panhypog... |
ORPHA:84064 |
| Congenital Tracheomalacia |
|
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, In... |
ORPHA:95430 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... |
ORPHA:439 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Hepatomegaly, Recurrent respiratory infections |
OMIM:619383 |
| Ornithine Transcarbamylase Deficiency |
|
Hyperammonemia, Splenomegaly |
ORPHA:664 |
| Lysinuric Protein Intolerance |
|
Intraalveolar phospholipid accumulation, Hemophagocytosis, Increased circulating ferritin concent... |
OMIM:222700 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
| Tetrasomy 5P |
|
Respiratory distress, Preauricular pit, Redundant neck skin, Recurrent respiratory infections, Pu... |
ORPHA:3309 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Brain abscess, Respiratory distress, Recurrent otitis media, Skin tags, Redundant skin, Palmoplan... |
OMIM:616482 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Aspiration pneumonia |
OMIM:619057 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Edema of the dorsum of hands, Edema of the dorsum of feet |
ORPHA:544503 |
| Ectodermal Dysplasia And Immunodeficiency 2 |
|
Dry skin, Splenomegaly, Defective production of NFKB1-dependent cytokines, Hepatomegaly, Recurren... |
OMIM:612132 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... |
OMIM:233710 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Abnormal natural killer cell morphology, Recurrent aphthous stomatitis, B lymphocytopenia, Recurr... |
OMIM:615966 |
| Timothy Syndrome |
|
Tetralogy of Fallot, Cardiomegaly, Patent foramen ovale, Ventricular septal defect |
OMIM:601005 |
| Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Peripheral edema,... |
ORPHA:60025 |
| Hennekam-Beemer Syndrome |
|
Pneumonia, Mastocytosis, Erythema, Skin vesicle, Macule, Subcutaneous nodule, Papule |
ORPHA:2135 |
| Odontochondrodysplasia 1 |
|
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia |
OMIM:184260 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Splenomegaly, Xanthomatosis, Hyperuricemia, Aplasia/Hypoplasia of the skin, Ci... |
ORPHA:79083 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Pancreatic lymphangiectasis, Ascites, Hepatosplenomegaly, Polyhydramnios, Splenomegaly, Redundant... |
ORPHA:1655 |
| Myotonic Dystrophy 1 |
|
Respiratory distress, Cholelithiasis, Polyhydramnios |
OMIM:160900 |
| Orofaciodigital Syndrome Viii |
|
Milia, Recurrent aspiration pneumonia |
OMIM:300484 |
| Fish-Eye Disease |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
| Lymphoid Interstitial Pneumonia |
|
Rheumatoid arthritis, Eczematoid dermatitis, Subpleural interstitial thickening, Skin rash, Respi... |
ORPHA:79128 |
| Infantile Liver Failure Syndrome 3 |
|
Hepatic bridging fibrosis, Cholestasis, Hepatic steatosis, Splenomegaly, Hyperammonemia, Prolonge... |
OMIM:618641 |
| Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... |
OMIM:233690 |
| Fanconi Anemia, Complementation Group F |
|
Pneumonia, Bone marrow hypocellularity, Leukopenia, Polyhydramnios, Thrombocytopenia, Anemia, Caf... |
OMIM:603467 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Pneumonia, Skin erosion, Dehydration, Respiratory distress, Pyoderma, Skin plaque, Anemia, Pneumo... |
ORPHA:79404 |
| Whipple Disease |
|
Uveitis, Mediastinal lymphadenopathy, Splenomegaly, Infectious encephalitis, Myositis, Hepatomega... |
ORPHA:3452 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Cholecystitis, Splenomegaly, Reduced hapto... |
OMIM:611881 |
| Diaphanospondylodysostosis |
|
Respiratory distress |
ORPHA:66637 |
| Cantu Syndrome |
|
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion |
OMIM:239850 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Immunodeficiency 31C |
|
Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Decreased lymphocyte proliferation in r... |
OMIM:614162 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Granulocytopenia, Macrocytic anemia |
OMIM:606164 |
| Alpha-Mannosidosis, Adult Form |
|
Pneumonia, Hepatosplenomegaly, Pancytopenia |
ORPHA:309288 |
| Long-Olsen-Distelmaier Syndrome |
|
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect |
OMIM:620609 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Pallor, Leukocytosis, Splenomegaly, Chronic l... |
ORPHA:98849 |
| Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
|
Abnormality of exocrine pancreas physiology, Bronchiectasis, Chronic bronchitis |
OMIM:211400 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypoalbuminemia, Increased circulating IgE level, Psoriasiform dermatitis, Eosinophilic infiltrat... |
OMIM:615508 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Conjugate... |
OMIM:601847 |
| Immunodeficiency 77 |
|
Recurrent tonsillitis, Bronchiectasis, Cutaneous abscess |
OMIM:619223 |
| Nijmegen Breakage Syndrome |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, Autoimmune hemolytic anemia, D... |
OMIM:251260 |
| Ciliary Dyskinesia, Primary, 53 |
|
Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def... |
OMIM:620642 |
| Biotinidase Deficiency |
|
Apnea, Skin rash, Splenomegaly, Hyperammonemia, Tachypnea, Seborrheic dermatitis, Hepatomegaly, C... |
OMIM:253260 |
| Chime Syndrome |
|
Erythema, Acute leukemia, Skin ulcer |
ORPHA:3474 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Cholecystitis, Splenomegaly, No... |
OMIM:613470 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Intrahepatic cholestasis, Hypocholesterolemia, Splenomegaly, Cirrhosis, Ach... |
OMIM:607765 |
| Gaucher Disease, Type Ii |
|
Bronchiolitis, Apnea, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Recurrent aspiration ... |
OMIM:230900 |
| Hyperlipoproteinemia, Type I |
|
Lactescent serum, Eruptive xanthomas, Increased circulating chylomicron concentration, Hepatosple... |
OMIM:238600 |
| Pachyonychia Congenita |
|
Cutaneous cyst, Epidermoid cyst, Respiratory distress, Angular cheilitis, Eruptive vellus hair cyst |
ORPHA:2309 |
| Vici Syndrome |
|
Decreased circulating IgG level, Cutaneous anergy, Chronic mucocutaneous candidiasis, Lymphopenia... |
OMIM:242840 |
| Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
| Felty Syndrome |
|
Rheumatoid arthritis, Splenomegaly, Neutropenia |
OMIM:134750 |
| Bronchial Neuroendocrine Tumor |
|
Pneumonia, Chronic noninfectious lymphadenopathy, Hepatomegaly, Dyspnea, Abnormal pulmonary inter... |
ORPHA:97287 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Episodic tachypnea, Apnea, Aspiration pneumonia |
ORPHA:79264 |
| Diaphanospondylodysostosis |
|
Pulmonary hypoplasia, Respiratory distress, Oligohydramnios, Increased nuchal translucency, Enlar... |
OMIM:608022 |
| Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... |
OMIM:231005 |
| Hermansky-Pudlak Syndrome 10 |
|
Apnea, Splenomegaly, Neutropenia, Hepatomegaly, Abnormal pulmonary interstitial morphology, Recur... |
OMIM:617050 |
| Fryns Syndrome |
|
Chylothorax, Polysplenia, Polyhydramnios, Ectopic pancreatic tissue, Pulmonary hypoplasia |
OMIM:229850 |
| Hereditary Angioedema Type 1 |
|
Facial edema, Respiratory distress, Tongue edema, Laryngeal edema, Edema of the dorsum of hands, ... |
ORPHA:100050 |
| Ciliary Dyskinesia, Primary, 43 |
|
Recurrent upper respiratory tract infections, Abdominal situs inversus, Chronic sinusitis, Chroni... |
OMIM:618699 |
| Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Respiratory distress, Exocrine pancreatic insufficiency, Pancytopeni... |
OMIM:260400 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Eczematoid de... |
ORPHA:391487 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Acral ulceration |
OMIM:201300 |
| Agnathia-Otocephaly Complex |
|
Respiratory distress, Polyhydramnios, Pulmonary hypoplasia |
OMIM:202650 |
| Caroli Disease |
|
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... |
ORPHA:53035 |
| Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Increased circulating IgA level, Abdominal adhesions, Neutropenia |
OMIM:616395 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper... |
OMIM:617394 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi... |
OMIM:608647 |
| Cholera |
|
Aspiration pneumonia, Hypocalcemia, Hypokalemia, Palmoplantar cutis laxa, Tachypnea, Hyponatremia... |
ORPHA:173 |
| Familial Tumoral Calcinosis |
|
Erythema, Hypopigmented skin patches, Periarticular subcutaneous nodules, Skin rash, Splenomegaly... |
ORPHA:53715 |
| Igg4-Related Ophthalmic Disease |
|
Thyroiditis, Periorbital edema, Keratitis, Increased circulating IgE level, Increased circulating... |
ORPHA:449563 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Recurrent aspiration pneumonia |
ORPHA:2590 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Cardiomegaly, Mitral valve prolapse, Abnormal atrioventricular valve morph... |
ORPHA:324410 |
| Liver Disease, Severe Congenital |
|
Portal inflammation, Recurrent otitis media, Hyperbilirubinemia, Hepatic steatosis, Pulmonary ede... |
OMIM:619991 |
| Atypical Werner Syndrome |
|
Skin ulcer, Hepatic steatosis, Abnormality of the pulmonary artery, Lack of skin elasticity, Apla... |
ORPHA:79474 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Pneumonia, Normocytic anemia, Abnormality of the hepatic vasculature, Nodular regenerative hyperp... |
ORPHA:247691 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Nocturnal hypoventilation, Dyspnea, Recurrent respiratory infections |
OMIM:211530 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Polyhydramnios, Atelectasis |
OMIM:300219 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Osteomyelitis, Keratitis, Acral ulceration |
OMIM:256800 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... |
OMIM:211600 |
| Noonan Syndrome 1 |
|
Chylothorax, Juvenile myelomonocytic leukemia, Lymphedema, Dry skin, Synovitis, Amegakaryocytic t... |
OMIM:163950 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Amenorrhea |
OMIM:110100 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Decreased circulating carnitine concentration, Abnormal circulating carnitine concentration, Aspi... |
ORPHA:431361 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Polycythemia, Micronodular cirrhosis, Increased to... |
ORPHA:309854 |
| Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Skin ulcer |
OMIM:245660 |
| Mucopolysaccharidosis Type 7 |
|
Hepatitis, Lymphedema, Ascites, Abnormal pleura morphology, Splenomegaly, Recurrent respiratory i... |
ORPHA:584 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Cholelithiasis, Portal hypertension, Hepatic steatosis, Splenomegaly, Hyperlipi... |
ORPHA:567983 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... |
OMIM:208540 |
| Mohr-Tranebjaerg Syndrome |
|
Agammaglobulinemia, Aspiration pneumonia |
ORPHA:52368 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Elevated circulating palmitoleylcarnitine concentration, Respiratory distress, Hyperammonemia, Hy... |
ORPHA:79282 |
| Choanal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Chronic sinusitis |
ORPHA:137914 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Pulmonary hypoplasia |
OMIM:617895 |
| Refsum Disease, Classic |
|
Cardiomegaly, Cardiomyopathy |
OMIM:266500 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Hepatomegaly, Macrovesicular hepatic steatosis, Microvesicular hepatic stea... |
OMIM:615595 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increased serum bile... |
ORPHA:731 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent upper respiratory tract infections, Lymphopenia, Hepatosplenomegaly, Leukopenia, Otitis... |
OMIM:612541 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Intrahepatic cholestasis, Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Jaundice |
OMIM:235555 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Severe B lymphocytopenia, Eczematoid dermatitis, Pancreatic hypoplasia, Respirato... |
ORPHA:83617 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly |
ORPHA:42 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... |
OMIM:619849 |
| Congenital Erythropoietic Porphyria |
|
Seborrhoeic blepharitis, Skin erosion, Leukopenia, Erythroid hyperplasia, Abnormal circulating po... |
ORPHA:79277 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto... |
OMIM:616084 |
| Trichohepatoenteric Syndrome 1 |
|
Hypoalbuminemia, Hepatic fibrosis, Hypermethioninemia, Increased circulating iron concentration, ... |
OMIM:222470 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... |
OMIM:306955 |
| Hyperparathyroidism, Neonatal Severe |
|
Splenomegaly, Hepatomegaly, Tachypnea, Anemia, Hypophosphatemia, Calcinosis, Dyspnea, Hypercalcemia |
OMIM:239200 |
| Congenital Laryngeal Web |
|
Respiratory distress |
ORPHA:2374 |
| Cocaine Intoxication |
|
Diffuse alveolar hemorrhage, Respiratory distress, Elevated circulating creatine kinase concentra... |
ORPHA:90068 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Hepatic fibrosis, Ex... |
OMIM:620005 |
| Lead Poisoning |
|
Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Decreased HDL cholesterol conce... |
ORPHA:330015 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Anemia, Exertional dyspnea, Hepatomegaly, Increased hepatocellular lipid dr... |
OMIM:220110 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy |
OMIM:617713 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatic fibrosis, Cholestasis, Dry skin, Portal hypertension, Splenomegaly, Sclerosing cholangiti... |
OMIM:607626 |
| Nasolacrimal Duct Cyst |
|
Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress, Chronic irritative co... |
ORPHA:141083 |
| Odontochondrodysplasia |
|
Respiratory distress |
ORPHA:166272 |
| Glycogen Storage Disease Ixc |
|
Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypertriglyceridemia, Hepatomegaly, ... |
OMIM:613027 |
| Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Exertional dyspnea, Recurrent lower respiratory tract infe... |
ORPHA:98915 |
| Biotinidase Deficiency |
|
Eczematoid dermatitis, Respiratory distress, Apnea, Skin rash, Hyperammonemia, Conjunctivitis, Hy... |
ORPHA:79241 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Inflammatory abnormality of the skin, Hyperlipidemia, Splenomegaly, Elevated circulating creatine... |
ORPHA:565612 |
| Glycogen Storage Disease Ib |
|
Inflammation of the large intestine, Xanthelasma, Gout, Splenomegaly, Hyperuricemia, Xanthomatosi... |
OMIM:232220 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Penetrating foot ulcers |
ORPHA:99956 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Apnea, Pallor, Otitis media, Splenomegaly, Chronic rhinitis, Hypocalcemia, Pulmonary artery steno... |
ORPHA:667 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Atelectasis, Respiratory distress, Respiratory tract infection, Elevated circulating creatine kin... |
ORPHA:365 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Preauricular skin tag, Dyspnea |
ORPHA:2707 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
| Hereditary Orotic Aciduria |
|
Anemia, Recurrent respiratory infections, Splenomegaly, Impaired T cell function |
ORPHA:30 |
| Dyskeratosis Congenita, Digenic |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:620040 |
| Familial Mediterranean Fever |
|
Erythema, Erysipelas, Ascites, Leukocytosis, Skin rash, Splenomegaly, Orchitis, Peritonitis, Panc... |
ORPHA:342 |
| Eisenmenger Syndrome |
|
Bacterial endocarditis, Abnormal circulating B-type natriuretic peptide concentration, Generalize... |
ORPHA:97214 |
| Chediak-Higashi Syndrome |
|
Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Anemia, Abn... |
OMIM:214500 |
| Double Outlet Left Ventricle |
|
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valve atresia, Doubl... |
ORPHA:3427 |
| Budd-Chiari Syndrome |
|
Ascites, Portal hypertension, Splenomegaly, Cholecystitis, Peritonitis, Cirrhosis, Hepatomegaly, ... |
ORPHA:131 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:201475 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia, Spotty hypopigmentation |
ORPHA:1867 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617102 |
| Acute Panmyelosis With Myelofibrosis |
|
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... |
ORPHA:86843 |
| Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Dehydration, Aspiration pneumonia, Hypomagnesemia, Leukocytosis, Hypocalcemia,... |
ORPHA:94093 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia, Cerebral edema |
OMIM:608033 |
| Nephronophthisis 19 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... |
OMIM:616217 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Generalized edema |
OMIM:271225 |
| Oculopharyngodistal Myopathy |
|
Recurrent aspiration pneumonia |
ORPHA:98897 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Subcutaneous nodule, Melanocytic nevus, Abnormality of the pancreas |
ORPHA:1555 |
| Moebius Syndrome |
|
Respiratory distress |
OMIM:157900 |
| Cirrhotic Cardiomyopathy |
|
Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial e... |
ORPHA:57777 |
| Isolated Biliary Atresia |
|
Periportal fibrosis, Cholestasis, Atretic gallbladder, Xanthelasma, Splenomegaly, Prolonged neona... |
ORPHA:30391 |
| Sickle Cell Disease |
|
Cardiomegaly, Hepatomegaly, Splenomegaly, Priapism |
OMIM:603903 |
| Scimitar Syndrome |
|
Pulmonary artery hypoplasia, Bronchogenic cyst, Respiratory distress, Pneumothorax, Partial anoma... |
ORPHA:185 |
| Sandhoff Disease |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Impotence |
OMIM:268800 |
| Aromatase Deficiency |
|
Female infertility, Male infertility, Enlarged polycystic ovaries, Primary amenorrhea, Hypergonad... |
ORPHA:91 |
| Esophageal Atresia |
|
Bronchitis, Respiratory distress, Esophagitis, Pallor, Episodic respiratory distress, Polyhydramn... |
ORPHA:1199 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Thin skin, Atelectasis, Respiratory distress, Atrophic scars, Oligohydramnios, Dermal translucenc... |
ORPHA:536467 |
| Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Polyhydramnios, Splenic cyst, Enlarged kidney |
OMIM:618188 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Polyhydramnios, Pulmonary hypoplasia |
OMIM:151210 |
| Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Macrocytic anemia, Steroid-responsive anemia, Reticulocytopenia, Anemia |
OMIM:613309 |
| Arterial Tortuosity Syndrome |
|
Respiratory distress, Esophagitis, Redundant skin, Pulmonary artery stenosis, Myocarditis, Dyspne... |
ORPHA:3342 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
| Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hypopnea, Respiratory distress, Apnea, Hypokalemia, Hyponatremia, Recurrent lower respiratory tra... |
OMIM:618426 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Micronodular cirrhosis, Aspiration pneumonia, Ascites, Splenomegaly, Seborrheic dermatitis, Throm... |
OMIM:301072 |
| Alfadhel Syndrome |
|
Nasal flaring |
OMIM:620655 |
| Spondyloenchondrodysplasia |
|
Pneumonia, Granuloma, Hepatitis, Pancytopenia, Skin rash, Autoimmune hemolytic anemia, Arthritis,... |
ORPHA:1855 |
| Danon Disease |
|
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia... |
OMIM:300257 |
| Tyrosinemia, Type I |
|
Hypermethioninemia, Elevated circulating alpha-fetoprotein concentration, Ascites, Hypophosphatem... |
OMIM:276700 |
| Amyloidosis, Hereditary Systemic 1 |
|
Cardiomegaly, Impotence, Cardiomyopathy |
OMIM:105210 |
| Gm1 Gangliosidosis |
|
Aspiration pneumonia, Hepatosplenomegaly, Splenomegaly, Infectious encephalitis, Recurrent respir... |
ORPHA:354 |
| Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating creatine k... |
OMIM:602668 |
| Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... |
ORPHA:1329 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Pneumonia, Recurrent respiratory infections, Polyhydramnios, Edema |
ORPHA:98905 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Palpebral edema, Polyhydramnios |
ORPHA:50810 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Elevated circulating creatine kinase concentration |
OMIM:618733 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia, Erythema, Respiratory distress, Abnormal pulmonary interstitial morphology, Recu... |
OMIM:614748 |
| Congenital Disorder Of Deglycosylation 1 |
|
Hepatic fibrosis, Respiratory distress, Hyperalaninemia, Hepatomegaly, Recurrent respiratory infe... |
OMIM:615273 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Recurrent aspiration pneumonia, Increased serum pyruvate |
ORPHA:79243 |
| Ethylene Glycol Poisoning |
|
Abnormal pattern of respiration, Hypocalcemia, Episodic respiratory distress, Pulmonary edema, Ga... |
ORPHA:31826 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Redundant neck skin |
ORPHA:2519 |
| Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Eosinoph... |
OMIM:158310 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Eczematoid dermatitis, Periorbital wrinkles, Respiratory distress, Dry skin, Hypoplastic-absent s... |
OMIM:305100 |
| Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level |
ORPHA:3409 |
| Geleophysic Dysplasia 3 |
|
Dyspnea, Hepatomegaly, Pneumonia, Polyhydramnios |
OMIM:617809 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Apnea, Hepatic steatosis, Hepatomegaly, Recurrent respiratory infections, M... |
ORPHA:17 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Skin tags, Preauricular pit, Redundant neck skin, Palmoplantar cutis laxa |
OMIM:123790 |
| Kniest Dysplasia |
|
Respiratory distress, Recurrent otitis media |
OMIM:156550 |
| Brain-Lung-Thyroid Syndrome |
|
Recurrent pneumonia, Respiratory distress, Abnormal pulmonary interstitial morphology, Recurrent ... |
ORPHA:209905 |
| Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Asplenia, Absent gallbladder, Annular pancreas |
ORPHA:210122 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
| Congenital Myasthenic Syndrome |
|
Episodic respiratory distress, Polyhydramnios, Apneic episodes precipitated by illness, fatigue, ... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Episodic respiratory distress, Polyhydramnios, Apneic episodes precipitated by illness, fatigue, ... |
ORPHA:98914 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cholelithiasis, Abnormal circulating lipid concentration, Decreased HDL cholesterol concentration... |
ORPHA:77293 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Recurrent respiratory infections, Sacral dimple |
OMIM:300968 |
| Naxos Disease |
|
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... |
OMIM:601214 |
| Pearson Syndrome |
|
Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoplastic spleen,... |
ORPHA:699 |
| Aapoaiv Amyloidosis |
|
Paraproteinemia, Abnormal lung morphology, Elevated circulating creatinine concentration, Hyperli... |
ORPHA:439232 |
| Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatic fibrosis, Periportal fibrosis, Oligohydramnios, Portal hypertension, Hepatic cysts, Splen... |
OMIM:263200 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Polyhydramnios |
ORPHA:990 |
| Infantile Krabbe Disease |
|
Respiratory distress, Hypopigmented skin patches |
ORPHA:206436 |
| Restrictive Dermopathy 2 |
|
Respiratory distress |
OMIM:619793 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys... |
OMIM:610199 |
| Tuberous Sclerosis Complex |
|
Epidermoid cyst, Respiratory distress, Confetti-like hypopigmented macules, Pulmonary lymphangiom... |
ORPHA:805 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatosplenomegaly, Azoospermia, Splenomegaly, Mitral valve prolapse, Ventricular septal defect, ... |
OMIM:602782 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Redundant neck skin |
OMIM:217980 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress |
OMIM:619272 |
| Achondroplasia |
|
Respiratory distress, Recurrent otitis media, Polyhydramnios, Pulmonary hypoplasia |
OMIM:100800 |
| Cleft Velum |
|
Recurrent otitis media, Aspiration pneumonia |
ORPHA:99772 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased circulating total IgM, Allergic rhinitis, Annular pancreas, Eczematoid dermatitis |
OMIM:618162 |
| Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Pallor, Dehydration |
ORPHA:2131 |
| Auriculocondylar Syndrome |
|
Respiratory distress, Preauricular skin tag, Periauricular skin pits |
ORPHA:137888 |
| Infantile Neuroaxonal Dystrophy |
|
Apneic episodes in infancy, Aspiration pneumonia |
ORPHA:35069 |
| Roifman-Chitayat Syndrome |
|
Pneumonia, Arthritis |
OMIM:613328 |
| Interatrial Communication |
|
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... |
ORPHA:1478 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Preauricular skin tag |
OMIM:610536 |
| Ramos-Arroyo Syndrome |
|
Respiratory distress, Xerostomia, Shoulder dimple, Keratitis |
ORPHA:1051 |
| Hepatoerythropoietic Porphyria |
|
Seborrhoeic blepharitis, Skin erosion, Erythroid hyperplasia, Abnormal circulating porphyrin conc... |
ORPHA:95159 |
| Congenital Tracheal Stenosis |
|
Fetal ascites, Abnormal lung lobation, Respiratory distress, Anomalous origin of left pulmonary a... |
ORPHA:141127 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... |
OMIM:620066 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy |
OMIM:619259 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Peripheral pulmonary artery stenosis, Emphysema, Redundant skin, Cutis laxa, Dyspnea, Bronchiectasis |
OMIM:123700 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology |
ORPHA:1517 |
| Cystic Fibrosis |
|
Recurrent pneumonia, Biliary cirrhosis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Ch... |
OMIM:219700 |
| Encephalitis Lethargica |
|
Hyperventilation, Increased circulating antibody level |
ORPHA:83600 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Posterior uveitis, Normocytic anemia, Nongranulomatous uveitis, Panuveitis, Macular edema, Elevat... |
ORPHA:91500 |
| Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Overriding aorta, Ventricular septal defect |
OMIM:617022 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Recurrent aspiration pneumonia |
ORPHA:204 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Episodic respiratory distress, Hepatomegaly, Low plasma citrulline, Hyperalaninemia, Dyspn... |
ORPHA:255210 |
| Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Recurrent pneumonia |
OMIM:613848 |
| Primary Dystonia, Dyt4 Type |
|
Respiratory distress |
ORPHA:98805 |
| Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Preauricular skin tag, Recurrent respiratory infections, Oligohydramnios |
ORPHA:177907 |
| Lissencephaly Due To Lis1 Mutation |
|
Polyhydramnios, Neonatal hyperbilirubinemia, Aspiration pneumonia |
ORPHA:95232 |
| Porphyria, Congenital Erythropoietic |
|
Atypical scarring of skin, Cholelithiasis, Elevated circulating uroporphyrin concentration, Reduc... |
OMIM:263700 |
| Gitelman Syndrome |
|
Hypermagnesemia, Hypomagnesemia, Respiratory distress, Gout, Hypocalcemia, Hashimoto thyroiditis,... |
ORPHA:358 |
| Degcags Syndrome |
|
Pneumonia, Cholestasis, Hepatosplenomegaly, Pancytopenia, Pallor, Leukopenia, Hyperbilirubinemia,... |
OMIM:619488 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Left ventricular hypertrophy, Aspiration pneumonia |
OMIM:619167 |
| Oromandibular Dystonia |
|
Respiratory distress |
ORPHA:93958 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Mixed total anomalous pulmonary venous connection, Paroxysmal dyspnea, Respiratory distress, Pall... |
ORPHA:99125 |
| Orofaciodigital Syndrome Ix |
|
Milia, Recurrent aspiration pneumonia |
OMIM:258865 |
| Reynolds Syndrome |
|
Biliary cirrhosis, Cholestasis, Lymphopenia, Hyperbilirubinemia, Splenomegaly, Erythema nodosum, ... |
OMIM:613471 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Cardiomegaly, Enlarged kidney, Dilated cardiomyopathy |
OMIM:608836 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress |
OMIM:612863 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Female infertility, Streak ovary, Decreased fertility, Oligomenorrhea, Premature ovarian insuffic... |
ORPHA:572333 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:208000 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula... |
OMIM:245600 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly, Ventricular septal defect |
OMIM:614921 |
| Gm1 Gangliosidosis Type 1 |
|
Hepatosplenomegaly, Hydrops fetalis, Aspiration pneumonia |
ORPHA:79255 |
| Chops Syndrome |
|
Splenomegaly, Anomalous pulmonary venous return, Aspiration pneumonia |
OMIM:616368 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Pneumonia, Jaundice, Hyperkalemia, Hyponatremia |
ORPHA:90790 |
| Mucopolysaccharidosis Type 3 |
|
Recurrent tonsillitis, Aspiration pneumonia, Adenoiditis, Respiratory tract infection, Otitis med... |
ORPHA:581 |
| Trichinellosis |
|
Facial edema, Increased circulating IgE level, Skin rash, Periorbital edema, Conjunctivitis, Edema |
ORPHA:863 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Aspiration pneumonia |
ORPHA:216866 |
| Igg4-Related Thyroid Disease |
|
Increased circulating IgG4 level, Hypocalcemia, Sclerosing cholangitis, Hashimoto thyroiditis, Pa... |
ORPHA:64744 |
| Mucopolysaccharidosis, Type Vi |
|
Pneumonia, Hepatomegaly, Recurrent upper respiratory tract infections, Splenomegaly |
OMIM:253200 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Microcytic anemia, Hepatic steatosis, Hyperpigmented nevi, T lymphocytopenia, Neoplasm of the pan... |
ORPHA:2959 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Abnormal myocardium morphology, Cardiomyopathy |
ORPHA:228308 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress |
ORPHA:438216 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Abnormal lung lobation, Decreased circulating IgA level, Hypertriglyceridemia, Decreased circulat... |
ORPHA:369837 |
| Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Recurrent upper respiratory tract infections, Keloids, Respiratory distress, Po... |
OMIM:180849 |
| Absence Of The Pulmonary Artery |
|
Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... |
ORPHA:980 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Right ventricular hypertrophy |
ORPHA:268 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Keratitis, Aspiration pneumonia, Tracheobronchial leiomyomatosis, Dyspnea, Recurrent respiratory ... |
ORPHA:1018 |
| Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Emphysema, Thin skin |
OMIM:224690 |
| Truncus Arteriosus |
|
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Truncus arterios... |
ORPHA:3384 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Elevated circulating alpha-fetoprotein concentration, Elevated circulating creatine kinase concen... |
OMIM:606002 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Recurrent respiratory infections, Apnea, Redundant neck skin, Tachypnea, Recurrent aspiration pne... |
ORPHA:397715 |
| Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Elevated circulating creatine kinase concentration |
OMIM:164310 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Erythema, Hypopigmented skin patches, Respiratory distress, Dermal atrophy, Aplasia/Hypoplasia of... |
ORPHA:2556 |
| Singleton-Merten Syndrome 1 |
|
Cardiomegaly, Recurrent respiratory infections, Pleural effusion |
OMIM:182250 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
| Alpha-Mannosidosis, Infantile Form |
|
Pneumonia, Hepatosplenomegaly, Pancytopenia, Otitis media |
ORPHA:309282 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Hepatomegaly, Polyhydramnios, Splenomegaly |
OMIM:617088 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Pneumonia, Exertional dyspnea, Orthopnea, Dyspnea, Pedal edema |
ORPHA:99103 |
| Rodrigues Blindness |
|
Nasal flaring |
OMIM:268320 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Dyspnea, Pneumonia, Exertional dyspnea, Anomalous pulmonary venous return |
ORPHA:99104 |
| Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Aspiration pneumonia |
ORPHA:845 |
| Niemann-Pick Disease Type C |
|
Fetal ascites, Aspiration pneumonia, Ascites, Hepatosplenomegaly, Abnormality of the liver, Splen... |
ORPHA:646 |
| Campomelic Dysplasia |
|
Recurrent upper respiratory tract infections, Respiratory distress, Apnea, Pretibial dimple, Poly... |
OMIM:114290 |
| Pfeiffer Syndrome Type 2 |
|
Respiratory distress |
ORPHA:93259 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress |
OMIM:183900 |
| Arboleda-Tham Syndrome |
|
Recurrent aspiration pneumonia, Respiratory distress, Recurrent otitis media, Upper eyelid edema,... |
OMIM:616268 |
| Aortic Arch Interruption |
|
Respiratory distress, Tachypnea, Left ventricular hypertrophy, Exertional dyspnea, Aortopulmonary... |
ORPHA:2299 |
| Pfeiffer Syndrome Type 3 |
|
Respiratory distress |
ORPHA:93260 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Hepatomegaly, Recurrent aspiration pneumonia, Hepatic hemangioma |
ORPHA:73230 |
| Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia, Increased circulating interleukin 6 concentration, Ascites, Peripheral edema, Sp... |
ORPHA:75565 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hypoplastic left heart, Female infertility, Bicuspid aortic valve, Atrial septal defect, Primary ... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Hypoplastic left heart, Female infertility, Bicuspid aortic valve, Atrial septal defect, Primary ... |
ORPHA:99228 |
| Monosomy X |
|
Hypoplastic left heart, Female infertility, Bicuspid aortic valve, Atrial septal defect, Primary ... |
ORPHA:99226 |
| Turner Syndrome |
|
Hypoplastic left heart, Female infertility, Bicuspid aortic valve, Atrial septal defect, Primary ... |
ORPHA:881 |
| Adnp Syndrome |
|
Respiratory distress, Recurrent upper respiratory tract infections |
ORPHA:404448 |
| Cornelia De Lange Syndrome 1 |
|
Pneumonia, Duplication of internal organs, Otitis media, Thrombocytopenia |
OMIM:122470 |
| Schinzel-Giedion Syndrome |
|
Recurrent pneumonia, Annular pancreas, Respiratory distress, Hepatoblastoma, Myeloid leukemia, Pu... |
ORPHA:798 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:230000 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Recurrent pneumonia, Acute myelomonocytic leukemia, Hyperpigmented papule, Respiratory distress, ... |
ORPHA:99646 |
| X-Linked Dystonia-Parkinsonism |
|
Aspiration pneumonia |
ORPHA:53351 |
| Proximal Spinal Muscular Atrophy |
|
Recurrent infections due to aspiration, Recurrent aspiration pneumonia, Hypoventilation |
ORPHA:70 |
| Mucolipidosis Ii Alpha/Beta |
|
Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Enlarged kidney |
OMIM:252500 |
| Cysticercosis |
|
Increased anti-parasite IgE antibody level, Infectious encephalitis, Iridocyclitis, Increased cir... |
ORPHA:1560 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Apnea, Hypopnea, Hypoventilation, Aspiration pneumonia |
OMIM:619482 |
| Marshall-Smith Syndrome |
|
Recurrent upper respiratory tract infections, Aspiration pneumonia, Melanocytic nevus, Apnea, Rec... |
OMIM:602535 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... |
OMIM:300967 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hyperpigmented/hypopigmented macules, Peripheral pulmonary artery stenosis, Increased nuchal tran... |
ORPHA:280633 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Simpson-Golabi-Behmel Syndrome |
|
Polysplenia, Increased circulating IgE level, Polyhydramnios, Splenomegaly, Pancreatic islet-cell... |
ORPHA:373 |
| 8Q24.3 Microdeletion Syndrome |
|
Naevus flammeus of the eyelid, Abnormal lung lobation, Respiratory distress, Skin tags, Exocrine ... |
ORPHA:508488 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Pancreatic hypoplasia, Respiratory distress, Exocrine pancreatic insufficiency, Oligohydramnios, ... |
ORPHA:2255 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly |
OMIM:618278 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Recurrent aspiration pneumonia, Recurrent pneumonia |
OMIM:300472 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hashimoto thyroiditis, Abnormal B cell morphology, Aplasia of the thymus, T lymphocytopenia |
OMIM:618223 |
| Bickerstaff Brainstem Encephalitis |
|
Dyspnea, Pneumonia, Respiratory tract infection |
ORPHA:79138 |
| Wiedemann-Rautenstrauch Syndrome |
|
Pneumonia, Premature skin wrinkling, Dry skin, Hypoplasia of the thymus, Hypertriglyceridemia, Re... |
OMIM:264090 |
| Doors Syndrome |
|
Respiratory distress, Thrombocytosis, Polyhydramnios, Aspiration pneumonia |
ORPHA:79500 |
| Ogden Syndrome |
|
Secundum atrial septal defect, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Bic... |
OMIM:300855 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Cardiomegaly, Ventricular septal defect |
ORPHA:96191 |
| Stüve-Wiedemann Syndrome |
|
Respiratory distress, Oligohydramnios, Apnea, Sacral dimple |
ORPHA:3206 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Abnormality of humoral immunity, Atypical scarring of skin, Fasciitis, Osteomyelitis, Dry skin, A... |
ORPHA:642 |
| Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Ascites, Hypophosphatemic rickets, Pancreatic calcification, Hepatic calcif... |
ORPHA:51608 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Bicuspid aortic valve |
ORPHA:91387 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Aspiration pneumonia |
OMIM:616430 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Cardiomegaly, Ventricular septal defect |
ORPHA:137675 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Cardiomegaly, Patent foramen ovale |
OMIM:620371 |
| Viss Syndrome |
|
Atopic dermatitis, Pulmonary artery aneurysm, Eczematoid dermatitis, Increased circulating IgE le... |
OMIM:619472 |
| Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Cardiomyopathy, Cardiomegaly, Hepatomegaly, Enlarged kidney |
OMIM:130650 |
| Bohring-Opitz Syndrome |
|
Cardiomegaly, Abnormal cardiac septum morphology |
ORPHA:97297 |
| Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea |
ORPHA:2554 |
| Abetalipoproteinemia |
|
Hepatomegaly, Cardiomegaly |
ORPHA:14 |
| Osteoglophonic Dysplasia |
|
Respiratory distress |
OMIM:166250 |
| Pmm2-Cdg |
|
Hypoalbuminemia, Hepatic fibrosis, Anasarca, Aspiration pneumonia, Respiratory distress, Lymphede... |
ORPHA:79318 |
| Miller-Dieker Lissencephaly Syndrome |
|
Polyhydramnios, Recurrent aspiration pneumonia, Sacral dimple |
OMIM:247200 |
| Cleidocranial Dysplasia 1 |
|
Respiratory distress |
OMIM:119600 |
| Fontaine Progeroid Syndrome |
|
Premature skin wrinkling, Oligohydramnios, Redundant skin, Left ventricular hypertrophy, Pneumoth... |
OMIM:612289 |
| Aicardi-Goutières Syndrome |
|
Hypertrophic cardiomyopathy, Hepatosplenomegaly, 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 |
| Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Decreased circulating iron concentration, Aspiration pneumonia, Apnea, Hypoventilation, Anemia |
ORPHA:438213 |
| Ulbright-Hodes Syndrome |
|
Respiratory distress, Oligohydramnios, Pneumothorax, Pulmonary hypoplasia |
ORPHA:3404 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Nasal flaring |
ORPHA:466943 |
| Williams Syndrome |
|
Hypertrophic cardiomyopathy, Tetralogy of Fallot, Mitral valve prolapse, Ventricular septal defec... |
ORPHA:904 |
| Alström Syndrome |
|
Hepatic fibrosis, Recurrent pneumonia, Recurrent upper respiratory tract infections, Hepatitis, R... |
ORPHA:64 |
| Opitz Gbbb Syndrome |
|
Preauricular pit, Recurrent aspiration pneumonia, Enlarged ovaries |
ORPHA:2745 |
| Coffin-Siris Syndrome |
|
Recurrent upper respiratory tract infections, Hepatoblastoma, Aspiration pneumonia |
ORPHA:1465 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Aspiration pneumonia |
ORPHA:99027 |
| Yunis-Varon Syndrome |
|
Cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial septal defect |
ORPHA:3472 |
| Beckwith-Wiedemann Syndrome |
|
Visceromegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Enlarged ki... |
ORPHA:116 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Pneumonia, Recurrent respiratory infections, Keloids, Otitis media |
ORPHA:353281 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Polyhydramnios, Recurrent respiratory infections, Aspiration pneumonia |
ORPHA:2020 |
| Alobar Holoprosencephaly |
|
Central apnea, Abnormal pattern of respiration, Aspiration pneumonia |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Abnormal pattern of respiration, Aspiration pneumonia |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Central apnea, Abnormal pattern of respiration, Aspiration pneumonia |
ORPHA:93924 |
| Semilobar Holoprosencephaly |
|
Central apnea, Abnormal pattern of respiration, Aspiration pneumonia |
ORPHA:220386 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Pneumonia, Keloids, Otitis media, Polyhydramnios, Recurrent respiratory infections |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Pneumonia, Keloids, Otitis media, Polyhydramnios, Recurrent respiratory infections |
ORPHA:353277 |
| Kabuki Syndrome 1 |
|
Recurrent otitis media, Preauricular pit, Hemolytic anemia, Recurrent aspiration pneumonia, Autoi... |
OMIM:147920 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Aspiration pneumonia |
ORPHA:444077 |
| Lafora Disease |
|
Recurrent aspiration pneumonia |
ORPHA:501 |
| Yunis-Varon Syndrome |
|
Polyhydramnios, Hydrops fetalis, Redundant neck skin, Aspiration pneumonia |
OMIM:216340 |
