Immunodeficiency 51 |
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Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... |
OMIM:613953 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Decreased circulating IgG level, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolyti... |
OMIM:616100 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
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Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... |
ORPHA:436159 |
Immunodeficiency, Common Variable, 14 |
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Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula... |
OMIM:617765 |
Immunodeficiency 14B, Autosomal Recessive |
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Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Monocytosi... |
OMIM:619281 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C... |
OMIM:606367 |
Immunodeficiency 15B |
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Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Recurrent infections, Chro... |
OMIM:615592 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... |
OMIM:202700 |
Adult Idiopathic Neutropenia |
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Fever, Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Monocytosi... |
ORPHA:2688 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmune thrombocytopenia, Sp... |
OMIM:614470 |
Psoriasis 14, Pustular |
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Fever, Parakeratosis, Neutrophilia, Psoriasiform dermatitis, Cholangitis, Elevated circulating C-... |
OMIM:614204 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
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Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Sepsis, Cholecystitis, Decreased circu... |
ORPHA:183675 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Respiratory distress, Myositis, Abnormal blood ion concentration, Sepsis, Tubulointerstitial neph... |
ORPHA:37042 |
Combined Immunodeficiency, X-Linked |
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Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... |
OMIM:312863 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
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Increased circulating interleukin 6 concentration, Recurrent skin infections, Recurrent upper res... |
OMIM:618944 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
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Fever, Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Elevated circulating C-reactive p... |
ORPHA:324964 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
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Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,... |
OMIM:618982 |
Immunodeficiency 105 |
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Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
Immunodeficiency 48 |
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Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Recur... |
OMIM:269840 |
Autosomal Dominant Severe Congenital Neutropenia |
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Acute myeloid leukemia, Recurrent sinopulmonary infections, Fever, Recurrent skin infections, Pne... |
ORPHA:486 |
Immunodeficiency, Common Variable, 10 |
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Decreased circulating IgG level, Psoriasiform dermatitis, Frequent Giardia lamblia infestation, A... |
OMIM:615577 |
Immunodeficiency 32B |
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Fever, Recurrent respiratory infections, Neutrophilia, Sinusitis, Pneumonia, Eosinophilia, Thromb... |
OMIM:226990 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
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Acute myeloid leukemia, Refractory anemia, Eczema, Asthma, Leukopenia, Monocytosis, Bone marrow h... |
OMIM:616871 |
Bleeding Disorder, Platelet-Type, 21 |
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Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Recurrent viral infections, Impa... |
OMIM:617443 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
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Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ... |
OMIM:247800 |
Severe Combined Immunodeficiency, X-Linked |
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Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Reduced natural... |
OMIM:300400 |
Primary Erythromelalgia |
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Pruritus, Recurrent respiratory infections, Leukemia, Hypothermia |
ORPHA:90026 |
Immunodeficiency 104 |
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Pneumonia, Eczema, Splenomegaly, Recurrent opportunistic infections, Chronic mucocutaneous candid... |
OMIM:608971 |
Combined Immunodeficiency Due To Dock8 Deficiency |
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Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Recurrent viral... |
ORPHA:217390 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
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Decreased circulating IgG level, Chronic oral candidiasis, Fever, Pneumonia, Eosinophilia, Recurr... |
ORPHA:169160 |
Immunodeficiency 91 And Hyperinflammation |
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Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Elevated circula... |
OMIM:619644 |
Immunodeficiency, Common Variable, 1 |
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Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropen... |
OMIM:607594 |
Immunodeficiency 97 With Autoinflammation |
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Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
Immunodeficiency 102 |
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Increased circulating interleukin 6 concentration, Sepsis, Leukopenia, Decreased circulating IgG ... |
OMIM:301082 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
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Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... |
OMIM:615513 |
Caspase 8 Deficiency |
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Decreased circulating IgG level, Recurrent sinopulmonary infections, Complete or near-complete ab... |
OMIM:607271 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... |
OMIM:243150 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
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Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili... |
OMIM:615508 |
Immunodeficiency 50 |
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Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Decreased circulati... |
OMIM:300988 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
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Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, Arthritis, T lymphocytopenia, C... |
OMIM:601457 |
Immunodeficiency 11A |
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Recurrent respiratory infections, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased... |
OMIM:615206 |
Immunodeficiency 62 |
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Autoimmune thrombocytopenia, Severe recurrent varicella, Recurrent upper respiratory tract infect... |
OMIM:618459 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
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Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... |
OMIM:618806 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infections, Increased c... |
ORPHA:276 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Lymphadenitis, Sepsis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased circulating IgG leve... |
OMIM:618986 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
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Fever, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Recurren... |
OMIM:613101 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
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Neonatal respiratory distress, Psoriasiform dermatitis, Recurrent urinary tract infections, Recur... |
ORPHA:221139 |
Immunodeficiency 52 |
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Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Congenital Enterovirus Infection |
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Respiratory distress, Fever, Abnormal macrophage morphology, Skin rash, Hypothermia, Myocarditis,... |
ORPHA:292 |
Immunodeficiency 11B With Atopic Dermatitis |
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Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Atopic dermatitis, Bronchiectas... |
OMIM:617638 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Increased proportion autoreactive unresponsive CD21-/low B cells, Elevated circulating C-reactive... |
OMIM:615559 |
Acute Lung Injury |
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Respiratory distress, Fever, Acute pancreatitis, Increased circulating interleukin 6 concentratio... |
ORPHA:178320 |
Lymphoproliferative Syndrome, X-Linked, 2 |
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Fever, Recurrent respiratory infections, Pancytopenia, Hypertriglyceridemia, Acne, Recurrent skin... |
OMIM:300635 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
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Hyponatremia, Psoriasiform dermatitis, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Rec... |
ORPHA:293978 |
Macrophage Activation Syndrome |
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Fever, Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypert... |
ORPHA:158061 |
Immunodeficiency 27A |
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Fever, Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Le... |
OMIM:209950 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
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Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... |
OMIM:616452 |
Immunodeficiency 49 |
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Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia... |
OMIM:617237 |
Familial Hemophagocytic Lymphohistiocytosis |
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Fever, Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Skin rash, Maculo... |
ORPHA:540 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... |
OMIM:300853 |
Isolated Agammaglobulinemia |
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Fever, Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin r... |
ORPHA:229717 |
Tularemia |
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Respiratory distress, Brain abscess, Fever, Skin rash, Pneumonia, Erythema nodosum, Thrombocytope... |
ORPHA:3392 |
Sweet Syndrome |
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Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... |
ORPHA:3243 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
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Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration, Ulcerative colitis |
OMIM:619398 |
Immunodeficiency 57 With Autoinflammation |
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Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas... |
OMIM:618108 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
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Eczema, Abnormal immunoglobulin level, Recurrent mycobacterial infections, Increased T cell count... |
ORPHA:98813 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
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Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Eosinophi... |
OMIM:243700 |
Immunodeficiency 89 And Autoimmunity |
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Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... |
OMIM:619632 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Reticular Dysgenesis |
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Fever, Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Sepsis, Decreased... |
ORPHA:33355 |
Lig4 Syndrome |
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Recurrent respiratory infections, Pancytopenia, Psoriasiform dermatitis, Asthma, Acute lymphoblas... |
OMIM:606593 |
Psoriasis 2 |
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Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis |
OMIM:602723 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
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Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Bronchiectasi... |
OMIM:619220 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
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Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk... |
OMIM:616576 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
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Decreased HDL cholesterol concentration, Psoriasiform dermatitis, Decreased LDL cholesterol conce... |
OMIM:616834 |
Immunodeficiency 46 |
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Chronic oral candidiasis, Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Seps... |
OMIM:616740 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
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Fever, Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagoc... |
OMIM:608898 |
Immunodeficiency 110 With Lymphoproliferation |
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Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent pne... |
OMIM:614868 |
Immunodeficiency 109 With Lymphoproliferation |
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Pancytopenia, Hypertriglyceridemia, Splenomegaly, Bronchiectasis, Recurrent sinusitis, Absent cir... |
OMIM:620282 |
Immunodeficiency 21 |
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Osteomyelitis, Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal i... |
OMIM:614172 |
Immunodeficiency 69 |
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Fever, Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Increased circulating ferritin concen... |
OMIM:618963 |
Activated Pi3K-Delta Syndrome |
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Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decreased circulating antibody le... |
ORPHA:397596 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
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Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Whim Syndrome 1 |
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Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... |
OMIM:193670 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
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Pneumonia, Recurrent upper respiratory tract infections, Recurrent candida infections, Decreased ... |
OMIM:614069 |
C1Q Deficiency 2 |
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Chilblains, Elevated circulating C-reactive protein concentration, Discoid lupus rash, Atelectasi... |
OMIM:620321 |
H Syndrome |
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Psoriasiform dermatitis, Hypertriglyceridemia, Microcytic anemia, Recurrent pharyngitis, Bronchie... |
ORPHA:168569 |
Bullous Pemphigoid |
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Psoriasiform dermatitis, Eczema, Recurrent infections |
ORPHA:703 |
Agammaglobulinemia 7, Autosomal Recessive |
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Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu... |
OMIM:615214 |
Neutropenia, Severe Congenital, X-Linked |
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Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio |
OMIM:300299 |
Mycosis Fungoides |
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Pruritus, Psoriasiform dermatitis, Eczema |
OMIM:254400 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Recurrent viral infections, Recurrent candida infections, T lymphocytopenia, Increased circulatin... |
ORPHA:169154 |
Immunodeficiency 92 |
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Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-switched memor... |
OMIM:619652 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
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Fever, Hypertriglyceridemia, Skin rash, Splenomegaly, Increased circulating ferritin concentratio... |
OMIM:603552 |
Pneumocystosis |
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Fever, Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neu... |
ORPHA:723 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Sinusitis, Severe B lymphocytopenia, Recurrent viral infections, Autoimmune thrombocytopenia, Dec... |
OMIM:102700 |
Cernunnos-Xlf Deficiency |
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Recurrent viral infections, Decreased circulating antibody level, Anemia, T lymphocytopenia, Recu... |
ORPHA:169079 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Decreased serum iron, Increas... |
OMIM:212050 |
Agammaglobulinemia 8B, Autosomal Recessive |
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Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur... |
OMIM:619824 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Atrophic gastritis, Sepsis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis... |
OMIM:614700 |
Agammaglobulinemia 2, Autosomal Recessive |
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Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
Immunodeficiency 60 And Autoimmunity |
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Fever, Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative... |
OMIM:618394 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
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Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
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Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia,... |
OMIM:618282 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated c... |
OMIM:308240 |
Immunodeficiency 64 With Lymphoproliferation |
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Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... |
ORPHA:911 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Inflammatory abnormality of the skin, Sinusitis, Recurrent opportunistic infections, Recurrent pn... |
ORPHA:277 |
Psoriasis 1, Susceptibility To |
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Arthritis, Psoriasiform dermatitis |
OMIM:177900 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
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Decreased circulating IgG level, Recurrent skin infections, Asthma, Recurrent pneumonia, Recurren... |
OMIM:619752 |
Kid Syndrome |
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Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... |
ORPHA:477 |
Agammaglobulinemia 4, Autosomal Recessive |
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Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
Pemphigus Foliaceus |
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Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth... |
ORPHA:79481 |
Neonatal Alloimmune Neutropenia |
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Fever, Pneumonia, Sepsis, Neutropenia in presence of anti-neutropil antibodies, Temperature insta... |
ORPHA:464370 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
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Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... |
OMIM:150550 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
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Anterior uveitis, Psoriasiform dermatitis, Skin rash, Pruritus, Iridocyclitis, Oligoarthritis, Uv... |
ORPHA:85436 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
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Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob... |
OMIM:617780 |
Adult Acute Respiratory Distress Syndrome |
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Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Sepsis, Hypoxemia, Abnorma... |
ORPHA:70578 |
Purine Nucleoside Phosphorylase Deficiency |
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Autoimmune hemolytic anemia, Sinusitis, Hypouricemia, Pneumonia, Pure red cell aplasia, Autoimmun... |
OMIM:613179 |
Hemoglobin D Disease |
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Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Agammaglobulinemia 6, Autosomal Recessive |
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Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:612692 |
Spontaneous Periodic Hypothermia |
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Skin rash, Abnormal pattern of respiration, Hypothermia |
ORPHA:29822 |
Immunodeficiency 43 |
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Decreased circulating IgG level, Recurrent respiratory infections, Hypoproteinemia, Lung abscess,... |
OMIM:241600 |
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome |
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Psoriasiform dermatitis |
ORPHA:3052 |
Mental Retardation And Psoriasis |
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Psoriasiform dermatitis |
OMIM:309480 |
Persistent Polyclonal B-Cell Lymphocytosis |
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Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Recurrent infections |
OMIM:606445 |
Staphylococcal Necrotizing Pneumonia |
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Respiratory distress, Fever, Neutrophilia, Pneumonia, Elevated circulating C-reactive protein con... |
ORPHA:36238 |
Immunodeficiency 13 |
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Lymphopenia, Recurrent pneumonia, Decreased proportion of CD4-positive helper T cells, Bronchiect... |
OMIM:615518 |
Niemann-Pick Disease, Type B |
|
Recurrent respiratory infections, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ... |
OMIM:607616 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Fever, Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatit... |
ORPHA:49041 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... |
ORPHA:331206 |
Autoinflammation With Infantile Enterocolitis |
|
Fever, Pancytopenia, Skin rash, Elevated circulating C-reactive protein concentration, Diffuse al... |
OMIM:616050 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis media, Recurrent cand... |
ORPHA:572 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:613011 |
Autosomal Agammaglobulinemia |
|
Fever, Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infe... |
ORPHA:33110 |
Schnitzler Syndrome |
|
Fever, Skin rash, Pruritus, Splenomegaly, Leukocytosis, Arthritis, Increased circulating IgM leve... |
ORPHA:37748 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... |
OMIM:603909 |
Meningococcal Meningitis |
|
Fever, Neonatal respiratory distress, Skin rash, Elevated circulating C-reactive protein concentr... |
ORPHA:33475 |
Idiopathic Bronchiectasis |
|
Fever, Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bro... |
ORPHA:60033 |
Bone Marrow Failure Syndrome 4 |
|
Recurrent respiratory infections, Eczema, Decreased circulating antibody level, Anemia, Leukopeni... |
OMIM:618116 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Perianal abscess, Respir... |
OMIM:612541 |
Timothy Syndrome |
|
Pneumonia, Bronchitis, Hypothermia, Recurrent infections, Hypocalcemia, Pulmonary arterial hypert... |
OMIM:601005 |
Idiopathic Achalasia |
|
Bronchitis, Wheezing, Cough, Decreased prealbumin level, Recurrent aspiration pneumonia |
ORPHA:930 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Asthma, Chronic myelomonocyt... |
ORPHA:90280 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br... |
OMIM:608957 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... |
OMIM:608184 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Splenomegaly, Recurrent upper respiratory tract infections, Bron... |
OMIM:616005 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc... |
ORPHA:83471 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Recurrent viral infections, Splenomegaly, Thro... |
OMIM:603554 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial ... |
OMIM:240500 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections, Leukopenia, I... |
OMIM:615285 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopenia, T lymphocytopenia, Increa... |
ORPHA:443811 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Bronchiolitis, Periodontitis, Reduction of neutrophil motility, Recurren... |
OMIM:266265 |
Psoriasis 15, Pustular, Susceptibility To |
|
Psoriasiform dermatitis |
OMIM:616106 |
Aspergillosis |
|
Sinusitis, Cough, Neutropenia, Infectious encephalitis, Chronic pulmonary obstruction, Bronchiect... |
ORPHA:1163 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Hyperalaninemia, Hypothermia, Respiratory insufficiency |
OMIM:614654 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... |
OMIM:307200 |
Malaria |
|
Respiratory distress, Fever, Elevated circulating C-reactive protein concentration, Thrombocytope... |
ORPHA:673 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypothermia |
OMIM:615026 |
Selective Igm Deficiency |
|
Fasciitis, Recurrent staphylococcal infections, Lymphadenitis, Paraproteinemia, Sepsis, Recurrent... |
ORPHA:331235 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Cough, Recurrent aspi... |
ORPHA:79124 |
Congenital Atransferrinemia |
|
Arthritis, Anemia, Recurrent infections |
ORPHA:1195 |
Avian Influenza |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-... |
ORPHA:454836 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Neonatal respiratory distress, Hypothermia, Respiratory insufficiency, Respiratory failure, Hyper... |
OMIM:245400 |
Eosinophilia, Familial |
|
Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Leukocytosis, Anemia |
OMIM:131400 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Eosinophilia, Eczema, Keratitis, Increased circulating IgE leve... |
OMIM:618523 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... |
OMIM:600802 |
Agammaglobulinemia, X-Linked |
|
Sepsis, T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circ... |
OMIM:300755 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre... |
OMIM:242700 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... |
OMIM:614878 |
Mu-Heavy Chain Disease |
|
Fever, Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia |
ORPHA:100024 |
Trimethylaminuria |
|
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia |
OMIM:602079 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Syno... |
ORPHA:793 |
Vulvovaginal Gingival Syndrome |
|
Pruritus, Parakeratosis, Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Recurrent urinary tract infections... |
OMIM:618495 |
Immunodeficiency 22 |
|
Fever, Pericarditis, Abscess, Thrombocytopenia, Recurrent upper respiratory tract infections, Dec... |
OMIM:615758 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... |
ORPHA:275 |
X-Linked Agammaglobulinemia |
|
Fever, Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Thrombocytopen... |
ORPHA:47 |
Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Bronchie... |
OMIM:619126 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Omenn Syndrome |
|
Fever, Pneumonia, Eosinophilia, Pruritus, Splenomegaly, Leukocytosis, Thyroiditis, Sepsis, Erythr... |
ORPHA:39041 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, Recurrent respiratory infections, Eczema, Oligoarthritis, T lymp... |
OMIM:619510 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Recurrent upper respiratory tract i... |
OMIM:602450 |
Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Cough, Bronchiectasis, Decreased nasal nitric oxide, Re... |
OMIM:612444 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Inflammatory abnormality of the skin, Pneumonia, Episodic tachypnea, Elevat... |
ORPHA:26793 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Elevated circulating creatine kinase concentration, Hypothermia, Normochromic anemia, Thrombocyto... |
OMIM:618775 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Apneic episodes in infancy, Hypothermia |
OMIM:610006 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Neutrope... |
OMIM:601495 |
Immunodeficiency 12 |
|
Skin rash, Abnormal lymphocyte count, Recurrent viral infections, Cheilitis, Bronchiectasis, Recu... |
OMIM:615468 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Fever, Elevated circulating creatine kinase concentration, Hypothermia, Pulmonary e... |
ORPHA:94093 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... |
ORPHA:319552 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Fever, Acute pancreatitis, Apnea, Hypothermia, Leukocytosis, Tachypnea, Hyperammonemia, Leukopeni... |
ORPHA:20 |
Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia, Hypothermia |
ORPHA:95717 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Lymphopenia, Myositis, Recurrent respiratory infections, Skin rash, Elevated circulating C-reacti... |
OMIM:615934 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Rhinitis, Hypoalb... |
ORPHA:507 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea... |
OMIM:619705 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Fever, Chronic gastritis, Recurrent respiratory infections, Increased circulating interleukin 6 c... |
OMIM:301074 |
Immunodeficiency 40 |
|
Respiratory tract infection, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia, Inte... |
OMIM:616433 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Palmoplantar keratoderma, Aspiration pneumonia |
OMIM:609528 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Hepatitis, Hypoplasia of the thymus, Rectal... |
ORPHA:436252 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Fever, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactiv... |
ORPHA:158057 |
Neutrophilic Dermatosis, Acute Febrile |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
OMIM:608068 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypothermia, Dyspnea, Elevated circulating creatinine concentration, Rhinitis, Increased blood ur... |
ORPHA:230 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Nonproductive cough, Uveitis, Leukopenia, Hyp... |
ORPHA:99826 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Increased circulating IgM level, Chronic... |
OMIM:242860 |
Rosaï-Dorfman Disease |
|
Fever, Dysgammaglobulinemia, Anemia |
ORPHA:158014 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... |
ORPHA:1303 |
Aregenerative Anemia |
|
Fever, Pancytopenia, Erythroid hypoplasia, Dyspnea, Reticulocytopenia, Bone marrow hypocellularit... |
ORPHA:101096 |
Cinca Syndrome |
|
Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Uve... |
OMIM:607115 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum... |
OMIM:615952 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... |
OMIM:106300 |
Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Splenomegaly, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchiectasi... |
OMIM:613490 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concen... |
ORPHA:36234 |
Melioidosis |
|
Fever, Foot osteomyelitis, Unusual skin infection, Liver abscess, Brain abscess, Pneumonia, Lung ... |
ORPHA:31202 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Splen... |
ORPHA:1572 |
Immunodeficiency 58 |
|
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi... |
OMIM:618131 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas... |
ORPHA:51636 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Bronchitis, Elevated circulating C-reactive protein concen... |
OMIM:619381 |
Scedosporiosis |
|
Fever, Unusual skin infection, Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Osteomye... |
ORPHA:449280 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... |
OMIM:615139 |
Immunodeficiency 96 |
|
Eczema, Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating ... |
OMIM:619774 |
Felty Syndrome |
|
Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Recurrent p... |
ORPHA:47612 |
Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Fever, Hemolytic anemia, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent mycobacte... |
ORPHA:169090 |
Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia |
OMIM:618557 |
Spinocerebellar Ataxia Type 42 |
|
Psoriasiform dermatitis |
ORPHA:458803 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Fever, Hemolytic anemia, Acute pancreatitis, Eczema, Abscess, Perianal abscess, Lymphadenitis, Sp... |
OMIM:618935 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly, Recurrent i... |
OMIM:617591 |
Alpha-Heavy Chain Disease |
|
Fever, Dysgammaglobulinemia, Splenomegaly, Hypocalcemia, Anemia |
ORPHA:100025 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Low-grade feve... |
ORPHA:1164 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia |
ORPHA:141152 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Tachypnea, Hypothermia |
OMIM:616501 |
Fusariosis |
|
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Neutropenia, Brain abscess, Maculopapu... |
ORPHA:228119 |
Tracheobronchopathia Osteochondroplastica |
|
Fever, Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wh... |
ORPHA:3348 |
Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... |
ORPHA:169105 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs... |
ORPHA:35078 |
Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypothermia |
ORPHA:95716 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... |
ORPHA:238459 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... |
ORPHA:3261 |
Immunodeficiency 23 |
|
Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, All... |
OMIM:615816 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Apnea, Hypothermia |
OMIM:614498 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Hypoventilation, Abnormality of temperature regulation, Hypothermia, Recurrent pneumonia |
OMIM:618493 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr... |
ORPHA:90117 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c... |
OMIM:615482 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Recurrent gas... |
ORPHA:294023 |
Menkes Disease |
|
Decreased circulating ceruloplasmin concentration, Hypothermia |
OMIM:309400 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Abnormal pattern of respiration, Hypothermia |
ORPHA:168593 |
Sarcoidosis |
|
Increased T cell count, Abnormal lung morphology, Uveitis, Tubulointerstitial nephritis, Leukopen... |
ORPHA:797 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Fever, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentra... |
OMIM:618398 |
Intermediate Uveitis |
|
Anterior uveitis, Tubulointerstitial nephritis, Psoriasiform dermatitis, Optic neuritis |
ORPHA:279914 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Apnea, Hypothermia, Cardiorespiratory arrest, Stridor, Bronchospasm, Abnormal pattern of respiration |
OMIM:608800 |
Acute Interstitial Pneumonia |
|
Fever, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, ... |
ORPHA:79126 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Sudden episodic apnea, Hypothermia, Elevated circulating acylcarnitine concentration, Respiratory... |
ORPHA:159 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Recurrent bacterial infections, Neutropenia |
ORPHA:86788 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Dyspnea, Leukocytosis, Anemia, Thrombocytopenia |
ORPHA:517 |
Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... |
OMIM:618695 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Brain abscess, Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ... |
OMIM:610910 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Hypothermia, Splenomegaly, Hypoalbuminemia,... |
OMIM:251880 |
Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Chronic bronchitis, Productive cough, Recurrent pneumonia, Bronchi... |
OMIM:615451 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
Drug-Induced Lupus Erythematosus |
|
Fever, Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-r... |
ORPHA:231111 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... |
OMIM:616726 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Arthritis, Increas... |
OMIM:604250 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Hypomethioninemia, Methylmalonic acidemia, Hypothermia, Megaloblastic anemi... |
ORPHA:79282 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, Leukocytosis, S... |
OMIM:612840 |
Diffuse Alveolar Hemorrhage |
|
Fever, Respiratory failure requiring assisted ventilation, Dyspnea, Leukocytosis, Increased DLCO,... |
ORPHA:90060 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Fever, Skin rash, Eosinophilia, Pustule, Myocarditis, Cough, Dyspnea, Hepatitis, Thyroiditis, Tub... |
ORPHA:139402 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Hypothermia |
ORPHA:226313 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Fever, Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, ... |
ORPHA:79127 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615504 |
Rigid Spine Syndrome |
|
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency |
ORPHA:97244 |
Hemophagocytic Syndrome Associated With An Infection |
|
Fever, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentra... |
ORPHA:158048 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Increase... |
OMIM:304790 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Abnormal circulating pr... |
ORPHA:264675 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Recurrent viral infections,... |
ORPHA:811 |
Acute Erythroid Leukemia |
|
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia |
ORPHA:318 |
Graft Versus Host Disease |
|
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga... |
ORPHA:39812 |
Prolidase Deficiency |
|
Chronic lung disease, Eczema, Splenomegaly, Asthma, Recurrent pneumonia, Crusting erythematous de... |
OMIM:170100 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Fever, Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin r... |
ORPHA:542323 |
Q Fever |
|
Respiratory distress, Fever, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Myo... |
ORPHA:781 |
Immunodeficiency 17 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD... |
OMIM:615607 |
Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Cough, Wheez... |
OMIM:613807 |
Bloom Syndrome |
|
Bronchitis, Uveitis, Otitis media, Decreased circulating IgG level, Decreased proportion of CD4-p... |
ORPHA:125 |
Gamma-Heavy Chain Disease |
|
Fever, Recurrent respiratory infections, Autoimmune hemolytic anemia, Skin rash, Autoimmune throm... |
ORPHA:100026 |
Immunodeficiency 56 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Cholangitis,... |
OMIM:615207 |
Brucellosis |
|
Liver abscess, Bronchitis, Elevated circulating C-reactive protein concentration, Knee osteoarthr... |
ORPHA:1304 |
Pseudo-Torch Syndrome 3 |
|
Apnea, Lymphadenitis, Leukocytosis, Increased circulating ferritin concentration, Respiratory ins... |
OMIM:618886 |
Riddle Syndrome |
|
Pneumonia, Bronchitis, Elevated circulating alpha-fetoprotein concentration, Recurrent viral infe... |
ORPHA:420741 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypothermia, Respiratory insufficiency, Respiratory failure, Hypoalbuminemia, Hyperalaninemia |
OMIM:618329 |
Beta-Thalassemia |
|
Abnormality of temperature regulation, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepa... |
ORPHA:848 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypoproteinemia, Pancytopenia, Hypertriglyceridemia, Skin rash, Fever, Reduced natu... |
OMIM:603553 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Allergic rhinitis, Elevated circulating C-reactive protein concentration, Leukocyto... |
ORPHA:2070 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu... |
OMIM:618849 |
Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis |
ORPHA:3347 |
Ciliary Dyskinesia, Primary, 7 |
|
Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric oxide, Restrictive ventilatory defect... |
OMIM:611884 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology, Psoriasiform dermatitis, Hypocalcemia, Hypocalcemic seizures |
ORPHA:2237 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615505 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Fever, Dyspnea, Acute i... |
ORPHA:140896 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Gout, Recurrent infections, Hyperuricemia, Neutrop... |
OMIM:617056 |
Ciliary Dyskinesia, Primary, 3 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:608644 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Acute Radiation Syndrome |
|
Fever, Inflammatory abnormality of the skin, Hyperkeratosis, Interstitial pneumonitis, Granulocyt... |
ORPHA:454831 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Nephronophthisis-Like Nephropathy 2 |
|
Recurrent respiratory infections, Elevated circulating creatinine concentration, Bronchiectasis, ... |
OMIM:619468 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, Sepsis, Conjunctivitis, Oti... |
ORPHA:2968 |
Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Chronic pulmonary obstruction, Bronchiectasis, Decreased nasal nit... |
OMIM:615481 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... |
ORPHA:3202 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Pancytopenia, Aplastic anemia, Crackles, Dyspnea, Usual interstitial pneumonia, Reticular pattern... |
OMIM:614742 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Peritonitis, Pneumonia, Recurrent meningococcal disease |
OMIM:615561 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Leukocy... |
OMIM:615688 |
Sarcoidosis, Susceptibility To, 2 |
|
Erythema nodosum, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis, Uveitis, Abnormal pulmonar... |
OMIM:612387 |
Tbck-Related Intellectual Disability Syndrome |
|
Eczema, Hypothermia, Asthma, Respiratory insufficiency, Abnormal circulating lipid concentration |
ORPHA:488632 |
Shigellosis |
|
Hyponatremia, Fever, Pneumonia, Abscess, Myocarditis, Peritonitis, Leukocytosis, Thrombocytopenia... |
ORPHA:810 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Brain abscess, Increased circulating interleukin 6 concentration,... |
ORPHA:544482 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Parakeratosis, Skin rash, Aplastic anemia, Maculopapular exanthem... |
ORPHA:398124 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
Relapsing Fever |
|
Fever, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Leukocytos... |
ORPHA:91547 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Inter... |
OMIM:620296 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615500 |
Ethylene Glycol Poisoning |
|
Gastritis, Hypothermia, Tachypnea, Episodic respiratory distress, Hyperkalemia, Hypocalcemia, Abn... |
ORPHA:31826 |
Amoebiasis Due To Entamoeba Histolytica |
|
Fever, Liver abscess, Acute colitis, Lung abscess, Dyspnea, Leukocytosis, Pleural empyema, Hypoal... |
ORPHA:67 |
Ciliary Dyskinesia, Primary, 32 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:616481 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Fever, Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concen... |
ORPHA:54251 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent... |
OMIM:616860 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Hepatitis, Bronchiectasi... |
ORPHA:391487 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgG level, Hypoproteinemia, Decreased circulating antibody level, Decreased... |
ORPHA:90362 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Pulmonary embolism, Decreased circulating antibody level, Recurrent infections, Iron deficiency a... |
OMIM:226300 |
Hereditary Spherocytosis |
|
Fever, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculopapular... |
ORPHA:822 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Abscess, Hypothermia, Recurrent Staphylococcus aureus infections, Recur... |
ORPHA:642 |
Aicardi-Goutieres Syndrome 7 |
|
Fever, Hemolytic anemia, Atrophic gastritis, Pancytopenia, Skin rash, Pneumonia, Chilblains, Thro... |
OMIM:615846 |
Genetic Transient Congenital Hypothyroidism |
|
Increased circulating thyroglobulin level, Hypothermia |
ORPHA:226316 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El... |
OMIM:210250 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... |
OMIM:615234 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Recurrent urinary tract infections, Hypothermia, Aspiration pneumonia, Temperature instability |
ORPHA:99027 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Apnea, Bronchiectasis, Respiratory insufficiency, Hyperammonemia, Aspiration pneumonia, Neutropenia |
OMIM:618253 |
Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin... |
ORPHA:48435 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Recurrent pn... |
OMIM:608647 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Sepsis, Hypoxemia,... |
ORPHA:70587 |
Chédiak-Higashi Syndrome |
|
Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal... |
ORPHA:167 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:596 |
Coccidioidomycosis |
|
Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Cough, Morbilli... |
ORPHA:228123 |
Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
Acute Monoblastic/Monocytic Leukemia |
|
Fever, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia, Exertio... |
ORPHA:514 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypothermia |
ORPHA:90673 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Elevated circulating creatine kinase concentration, Lymphadenitis, Leukocytosis, Splenome... |
OMIM:615895 |
Sepsis In Premature Infants |
|
Neonatal sepsis, Fever, Increased circulating interleukin 6 concentration, Abnormal mucociliary c... |
ORPHA:90051 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otiti... |
OMIM:244400 |
Listeriosis |
|
Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulom... |
ORPHA:533 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Autoimmune hemolytic ane... |
OMIM:614162 |
Fanconi Anemia, Complementation Group V |
|
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... |
OMIM:617243 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... |
OMIM:613808 |
Letterer-Siwe Disease |
|
Fever, Seborrheic dermatitis, Thrombocytopenia, Dyspnea, Hepatosplenomegaly, Neutropenia, Stomati... |
OMIM:246400 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Rat-Bite Fever |
|
Fever, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule... |
ORPHA:31205 |
Icf Syndrome |
|
Recurrent respiratory infections, Abnormality of neutrophils, Decreased circulating antibody leve... |
ORPHA:2268 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Fever, Apnea, Hypothermia, Dyspnea, Low plasma citrulline, Episodic respiratory distress, Hyperal... |
ORPHA:255210 |
Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Recurrent fever, Anemia |
OMIM:223350 |
Bazex Syndrome |
|
Parakeratosis, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Lung adenocarcinoma, Anemia |
ORPHA:166113 |
Immunodeficiency 77 |
|
Recurrent tonsillitis, Chronic pulmonary obstruction, Bronchiectasis, Cutaneous abscess |
OMIM:619223 |
Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Pulmonary fibr... |
OMIM:618165 |
Limb-Mammary Syndrome |
|
Psoriasiform dermatitis, Chronic irritative conjunctivitis, Blepharitis |
ORPHA:69085 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Abnormality of the spleen, Sepsis, N... |
ORPHA:2552 |
Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Thrombocytopenia, Hyperkalemia, Sepsis, Leukope... |
OMIM:617053 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Recurrent respiratory infections, Methylmalonic acidemia, Apnea, Hypothermia |
ORPHA:17 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... |
ORPHA:2590 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypo... |
ORPHA:90674 |
Bronchogenic Cyst |
|
Fever, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Dyspnea, Atelectasis, Cough, Bronch... |
ORPHA:2357 |
Nocardiosis |
|
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Sepsis, Conjunctivitis, ... |
ORPHA:31204 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hypoventilation, Fever, Central hypoventilation, Hypothermia, Asthma, Recurrent upp... |
ORPHA:293987 |
Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Decreased n... |
OMIM:617092 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... |
ORPHA:244 |
Thrombocytopenia 5 |
|
Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... |
OMIM:616216 |
Mucoepithelial Dysplasia, Hereditary |
|
Eosinophilia, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv... |
OMIM:158310 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Sepsis, Inflammation of the large i... |
ORPHA:906 |
Lymphoid Interstitial Pneumonia |
|
Fever, Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Respiratory tract infection, Dyspne... |
ORPHA:79128 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Sinusitis, Elevated circulating alpha-fetoprotein concentration,... |
OMIM:208900 |
Alexander Disease |
|
Infectious encephalitis, Hypothermia, Respiratory insufficiency |
ORPHA:58 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Intermittent hypothermia, Temperature instability, Apnea, Cardiorespiratory arrest |
OMIM:608643 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Intermittent hypothermia, Increased blood urea nitrogen |
OMIM:223360 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Fever, Increased circulating interleukin 6 concentration, Glomerulonephriti... |
ORPHA:340 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Skin rash, Pneumonia, Elevated circulating creatinine concentration, Sepsis, N... |
ORPHA:247691 |
Copper Deficiency, Familial Benign |
|
Decreased circulating copper concentration, Anemia, Seborrheic dermatitis |
OMIM:121270 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Alpha-Mannosidosis, Adult Form |
|
Pancytopenia, Pneumonia, Recurrent infections, Hepatosplenomegaly, Recurrent gastroenteritis |
ORPHA:309288 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Thrombocytopenia, Reticulocytopenia, Recurrent infections, Bone marrow h... |
ORPHA:88 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Eczema, Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocytopenia, Leukop... |
ORPHA:508542 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Increased circulating interleukin 8 concentration, Recurrent pneumonia, Bronchiectasis, Hyperkera... |
OMIM:301220 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Elevated circulating C-reactive protein concentration, Recurrent pneumonia, Decreased ... |
OMIM:617718 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Neutropenia, T lymphocy... |
OMIM:607944 |
Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmune thrombocytopenia, Hep... |
ORPHA:1855 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Skin rash, Pneumonia, Increased circulating IgA level, ... |
ORPHA:2298 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Apnea, Decreased serum iron, Breathing dysregulation, Hypothermia, Aspiration pn... |
ORPHA:438213 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Atelectasis, Leukocytosis, Dyspnea, Asthma, Bronchiectasis, Wheezing, Abnormal pulmonar... |
OMIM:620233 |
Menkes Disease |
|
Osteomyelitis, Sepsis, Hypothermia |
ORPHA:565 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Stridor, Increased circulating thyroglobulin level, Hypothermia, Hyperbilirubinemia |
OMIM:218700 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum... |
ORPHA:98870 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Restrictive ventilatory defect, Pneumonia, Elevated circulating creatine kinase concentration |
OMIM:253700 |
Cryptococcosis |
|
Respiratory distress, Fever, Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulm... |
ORPHA:1546 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Non-periodic recurrent fever, Apnea, Episodic tachypnea, Aspiration pneumonia |
ORPHA:79264 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Dyspnea, Leukopenia, Interstitial pneumonitis, Increased mean ... |
OMIM:127550 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Recurrent bronchitis,... |
OMIM:251260 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati... |
ORPHA:70588 |
Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... |
OMIM:618699 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Neutropenia, Nephritis, Infecti... |
ORPHA:73263 |
Sporadic Creutzfeldt-Jakob Disease |
|
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia, Sepsis, Recur... |
ORPHA:204 |
Sarcoidosis, Susceptibility To, 1 |
|
Fever, Pancytopenia, Abnormality of T cell physiology, Iridocyclitis, Splenomegaly, Dyspnea, Bron... |
OMIM:181000 |
Occipital Horn Syndrome |
|
Hypothermia, Recurrent urinary tract infections, Hepatitis, Esophagitis |
ORPHA:198 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Recurrent respiratory infections, Lymphopenia, Anemia |
ORPHA:935 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... |
ORPHA:95430 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:603467 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Abnormal circulating thyroglobulin level, Hypothermia |
ORPHA:226307 |
Mohr-Tranebjaerg Syndrome |
|
Agammaglobulinemia, Aspiration pneumonia |
ORPHA:52368 |
Kikuchi-Fujimoto Disease |
|
Skin rash, Elevated circulating C-reactive protein concentration, Pruritus, Myocarditis, Pustule,... |
ORPHA:50918 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Increased circulating surfactant protein level, Oxyge... |
ORPHA:60025 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Recurrent urinary tract infections, Recurrent skin infections, Pneumonia, D... |
ORPHA:79404 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Anterior uveitis, Inflammatory abnormality of the skin, Respiratory failure... |
ORPHA:95455 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Lymphadenitis, Abnormal lung morphology, D... |
ORPHA:449395 |
Gaucher Disease, Type Ii |
|
Apnea, Splenomegaly, Anemia, Stridor, Cough, Bronchiolitis, Recurrent aspiration pneumonia, Throm... |
OMIM:230900 |
Amoebiasis Due To Free-Living Amoebae |
|
Fever, Unusual skin infection, Sinusitis, Pneumonia, Pustule, Respiratory tract infection, Granul... |
ORPHA:68 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Abnormal circulating carnitine concentration, Aspiration pneumonia, Decreased circulating carniti... |
ORPHA:431361 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... |
ORPHA:98905 |
Hennekam-Beemer Syndrome |
|
Pruritus, Pneumonia, Respiratory insufficiency, Mastocytosis |
ORPHA:2135 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Sepsis, Leukopenia, Lymphocytosis, Hypocalcemia, Elevated hepatic iron concent... |
OMIM:619991 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Fever, Neonatal sepsis, Pneumonia, Hyperkalemia |
ORPHA:90790 |
Cleft Velum |
|
Recurrent otitis media, Aspiration pneumonia |
ORPHA:99772 |
Cholera |
|
Hyponatremia, Fever, Tachypnea, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Aspi... |
ORPHA:173 |
Bronchial Neuroendocrine Tumor |
|
Pneumonia, Dyspnea, Nonproductive cough, Asthma, Wheezing, Abnormal pulmonary interstitial morpho... |
ORPHA:97287 |
Infantile Neuroaxonal Dystrophy |
|
Temperature instability, Apneic episodes in infancy, Aspiration pneumonia |
ORPHA:35069 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia |
OMIM:608033 |
Roifman-Chitayat Syndrome |
|
Arthritis, Pneumonia |
OMIM:613328 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia |
ORPHA:1867 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Splenomegaly, Hepatosplenomegaly, Aspiration pneumonia, Infecti... |
ORPHA:354 |
Degcags Syndrome |
|
Fever, Pancytopenia, Chronic lung disease, Recurrent urinary tract infections, Pneumonia, Congeni... |
OMIM:619488 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Aspiration pneumonia, Cough |
ORPHA:216866 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Interstitial pneumonitis, Hypokalemia, Respiratory failure |
ORPHA:330021 |
Plague |
|
Respiratory distress, Chapped lip, Fever, Skin rash, Erythema nodosum, Lymphadenitis, Splenomegal... |
ORPHA:707 |
Alpha-Mannosidosis, Infantile Form |
|
Recurrent urinary tract infections, Pancytopenia, Pneumonia, Hepatosplenomegaly, Recurrent infect... |
ORPHA:309282 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... |
ORPHA:70 |
Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia, Aspiration pneumonia |
ORPHA:95232 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, R... |
ORPHA:99104 |
Chops Syndrome |
|
Splenomegaly, Anomalous pulmonary venous return, Aspiration pneumonia, Tracheomalacia, Chronic lu... |
OMIM:616368 |
Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Aspiration pneumonia, Hepatosplenomegaly |
ORPHA:845 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... |
ORPHA:99103 |
Mucopolysaccharidosis, Type Vi |
|
Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory de... |
OMIM:253200 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Splenomegaly, Thrombocytopenia, Aspiration pneumonia, Seborrheic dermatitis |
OMIM:301072 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Aspiration... |
ORPHA:1018 |
Cornelia De Lange Syndrome 1 |
|
Thrombocytopenia, Pneumonia, Otitis media |
OMIM:122470 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
Mucopolysaccharidosis Type 3 |
|
Recurrent sinopulmonary infections, Respiratory tract infection, Splenomegaly, Recurrent tonsilli... |
ORPHA:581 |
X-Linked Dystonia-Parkinsonism |
|
Aspiration pneumonia |
ORPHA:53351 |
Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Pneumonia |
OMIM:617809 |
Gm1 Gangliosidosis Type 1 |
|
Aspiration pneumonia, Hepatosplenomegaly |
ORPHA:79255 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Aspiration pneumonia |
OMIM:619167 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia, Temperatu... |
OMIM:619482 |
Marshall-Smith Syndrome |
|
Apnea, Recurrent upper respiratory tract infections, Stridor, Aspiration pneumonia, Pulmonary art... |
OMIM:602535 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Aspiration pneumonia |
OMIM:616430 |
Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:2020 |
Nk-Cell Enteropathy |
|
Increased T cell count |
ORPHA:263665 |
Niemann-Pick Disease Type C |
|
Bone-marrow foam cells, Splenomegaly, Abnormal lung morphology, Respiratory insufficiency, Hepato... |
ORPHA:646 |
Wiedemann-Rautenstrauch Syndrome |
|
Recurrent respiratory infections, Hypertriglyceridemia, Pneumonia, Hypoplasia of the thymus, Thin... |
OMIM:264090 |
Coffin-Siris Syndrome |
|
Recurrent upper respiratory tract infections, Aspiration pneumonia, Recurrent infections |
ORPHA:1465 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Asthma, Otitis m... |
ORPHA:353281 |
Semilobar Holoprosencephaly |
|
Central apnea, Aspiration pneumonia, Temperature instability, Abnormal pattern of respiration, Ch... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Central apnea, Aspiration pneumonia, Temperature instability, Abnormal pattern of respiration, Ch... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Aspiration pneumonia, Temperature instability, Abnormal pattern of respiration, Ch... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Aspiration pneumonia, Temperature instability, Abnormal pattern of respiration, Ch... |
ORPHA:93924 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Asthma, Aspiration pneumonia, Tracheomalacia, Pulmonary arterial hypertension, Chronic lung disease |
ORPHA:444077 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Asthma, Otitis m... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Asthma, Otitis m... |
ORPHA:353277 |
Kabuki Syndrome 1 |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Recurrent infections, Recurrent otitis media, Recu... |
OMIM:147920 |
Doors Syndrome |
|
Respiratory distress, Thrombocytosis, Aspiration pneumonia |
ORPHA:79500 |
Pmm2-Cdg |
|
Respiratory distress, Fever, Pericarditis, Reduced thyroxin-binding globulin, Hypoalbuminemia, As... |
ORPHA:79318 |
Yunis-Varon Syndrome |
|
Pulmonary arterial hypertension, Aspiration pneumonia, Palmoplantar hyperkeratosis |
OMIM:216340 |