Immunodeficiency 53 |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Skin r... |
OMIM:617585 |
Immunodeficiency 51 |
|
Pneumonia, Folliculitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Cutaneous absc... |
OMIM:613953 |
Combined Immunodeficiency, X-Linked |
|
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po... |
OMIM:312863 |
Immunodeficiency 50 |
|
Eczematoid dermatitis, Lymphopenia, Neutropenia, Recurrent respiratory infections, Decreased circ... |
OMIM:300988 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod... |
OMIM:247800 |
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 |
Immunodeficiency 13 |
|
Nasal polyposis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent oti... |
OMIM:615518 |
Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Nasal polyposis, Recurrent sinusitis, Chronic rhinitis, Bronchiectasis |
OMIM:618695 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Atopic dermatitis, Ulcerative colitis, Increased circulating IgE level, Colonic eosino... |
OMIM:617638 |
Immunodeficiency 104 |
|
Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Recurrent otitis media, Otit... |
OMIM:608971 |
Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
Specific Granule Deficiency 1 |
|
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent... |
OMIM:245480 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Recurrent... |
OMIM:607594 |
Ciliary Dyskinesia, Primary, 9 |
|
Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro... |
OMIM:612444 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Absent central microtubular pai... |
OMIM:620032 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Panhypogammaglobulinemia, Abnormal T cell morphology, Agammagl... |
OMIM:615214 |
Idiopathic Achalasia |
|
Recurrent aspiration pneumonia, Bronchitis, Decreased circulating prealbumin concentration |
ORPHA:930 |
Immunodeficiency 32B |
|
Pneumonia, Hypoalbuminemia, Neutrophilia, Impaired oxidative burst, Abnormal circulating IgG leve... |
OMIM:226990 |
Immunodeficiency 48 |
|
Pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, ... |
OMIM:269840 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Neutropenia |
OMIM:616022 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... |
OMIM:615513 |
Young Syndrome |
|
Bronchiectasis, Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Rec... |
OMIM:279000 |
Immunodeficiency 62 |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased proporti... |
OMIM:618459 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Neutropenia in pre... |
OMIM:619220 |
Bronchiectasis With Or Without Elevated Sweat Chloride 3 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613071 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:613502 |
Severe Combined Immunodeficiency, X-Linked |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgE, Decre... |
OMIM:300400 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circulating B cells, Neu... |
OMIM:613501 |
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 |
Mhc Class I Deficiency 1 |
|
Nasal polyposis, Bronchiolitis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otiti... |
OMIM:604571 |
Immunodeficiency 102 |
|
Decreased proportion of CD4-positive helper T cells, Recurrent lower respiratory tract infections... |
OMIM:301082 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Inflammation of the large intestine, Decrea... |
OMIM:619281 |
Mounier-Kühn Syndrome |
|
Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections |
ORPHA:3347 |
Ciliary Dyskinesia, Primary, 45 |
|
Chronic rhinitis, Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein... |
OMIM:618801 |
Ciliary Dyskinesia, Primary, 33 |
|
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,... |
OMIM:616726 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired ne... |
OMIM:618986 |
Caspase 8 Deficiency |
|
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve... |
OMIM:607271 |
Ciliary Dyskinesia, Primary, 28 |
|
Recurrent otitis media, Dynein arm defect of respiratory motile cilia, Recurrent sinusitis, Chron... |
OMIM:615505 |
Familial Nasal Acilia |
|
Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Chronic rhinitis, B... |
ORPHA:922 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media... |
OMIM:266265 |
Immunodeficiency 27A |
|
Pneumonia, Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased inflammator... |
OMIM:209950 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Recurrent pneumonia, Decreased circulating antibody level, Autoimmune hemolyt... |
OMIM:616576 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Inflammation of the large intestine, Psoriasiform dermatitis, Recurrent lower respiratory tract i... |
ORPHA:436159 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren... |
OMIM:619707 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
Ciliary Dyskinesia, Primary, 13 |
|
Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis, Absent inner dynein arms, Bron... |
OMIM:613193 |
Isolated Agammaglobulinemia |
|
Pneumonia, Abnormality of neutrophils, Abnormal lymphocyte morphology, Otitis media, Skin rash, A... |
ORPHA:229717 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Pneumonia, Atopic dermatitis, Chronic otitis media, Increased circulating IgE level, Recurrent si... |
ORPHA:217390 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Decre... |
OMIM:193670 |
Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Partial absence of specific antibody response to tetanus vac... |
OMIM:618108 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... |
OMIM:619632 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Recurrent otitis media, Increased circulating IgE level, Hepatosplen... |
OMIM:618982 |
Ciliary Dyskinesia, Primary, 21 |
|
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis |
OMIM:615294 |
Ciliary Dyskinesia, Primary, 17 |
|
Recurrent otitis media, Dynein arm defect of respiratory motile cilia, Chronic sinusitis, Chronic... |
OMIM:614679 |
Immunodeficiency 52 |
|
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat... |
OMIM:617514 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Recurrent bronchopulmonary infections, Neutropenia, Decreased circulating total IgM |
OMIM:610798 |
Immunodeficiency 116 |
|
Recurrent respiratory infections, Bronchiectasis, Absence of CD8-positive T cells |
OMIM:608957 |
Ciliary Dyskinesia, Primary, 35 |
|
Recurrent pneumonia, Nasal polyposis, Chronic sinusitis, Chronic rhinitis, Chronic otitis media, ... |
OMIM:617092 |
Ciliary Dyskinesia, Primary, 11 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Recurrent sinusitis, C... |
OMIM:612649 |
Trimethylaminuria |
|
Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia |
OMIM:602079 |
Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Hepatosplenomegaly, Decreased proportion of class-switched memo... |
OMIM:619126 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Hepatitis, Lymphopenia, Hepatosp... |
ORPHA:169160 |
Muscular Hypertonia, Lethal |
|
Pneumonia |
OMIM:254120 |
Immunodeficiency 109 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co... |
OMIM:620282 |
Ciliary Dyskinesia, Primary, 15 |
|
Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Nasal polyposis,... |
OMIM:613808 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Recurrent otitis media, Decreased circulating antibody level, Splenomegaly, Chronic si... |
ORPHA:397596 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Ulcerative colitis, Decr... |
OMIM:618394 |
Ciliary Dyskinesia, Primary, 34 |
|
Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis, Absent central microtubular pair mor... |
OMIM:617091 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent streptococcus pneumoniae infections, Neutropenia |
ORPHA:70592 |
Bronchiolitis Obliterans |
|
Pneumonia, Bronchiolitis obliterans, Bronchiectasis, Respiratory tract infection |
ORPHA:1303 |
Tracheobronchomegaly |
|
Recurrent bronchopulmonary infections, Bronchiectasis |
OMIM:275300 |
Ciliary Dyskinesia, Primary, 19 |
|
Nasal polyposis, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Absen... |
OMIM:614935 |
Immunodeficiency 46 |
|
Intermittent thrombocytopenia, Recurrent sinopulmonary infections, Neutropenia, Anemia, Conjuncti... |
OMIM:616740 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Atopic dermatitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiecta... |
OMIM:619752 |
Ciliary Dyskinesia, Primary, 16 |
|
Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Chronic otitis media, Absent outer dynein arms |
OMIM:614017 |
Ciliary Dyskinesia, Primary, 44 |
|
Bronchiectasis, Recurrent sinusitis, Otitis media |
OMIM:618781 |
Ciliary Dyskinesia, Primary, 41 |
|
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis |
OMIM:618449 |
Ciliary Dyskinesia, Primary, 32 |
|
Absent respiratory ciliary axoneme radial spokes, Recurrent otitis media, Chronic sinusitis, Chro... |
OMIM:616481 |
Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
Ciliary Dyskinesia, Primary, 23 |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi... |
OMIM:615451 |
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 |
Ciliary Dyskinesia, Primary, 46 |
|
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis |
OMIM:619436 |
Ciliary Dyskinesia, Primary, 7 |
|
Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Recurrent otitis... |
OMIM:611884 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... |
OMIM:614700 |
Immunodeficiency 92 |
|
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... |
OMIM:619652 |
Ciliary Dyskinesia, Primary, 39 |
|
Recurrent otitis media, Recurrent lower respiratory tract infections, Bronchiectasis |
OMIM:618254 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic sinusitis, Rhinitis, Rec... |
OMIM:615504 |
Slc35A1-Cdg |
|
Pneumonia, Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Neutropenia, Thromb... |
ORPHA:238459 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess... |
OMIM:150550 |
Immunodeficiency 43 |
|
Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp... |
OMIM:241600 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut... |
OMIM:618282 |
Ciliary Dyskinesia, Primary, 12 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Chronic otitis media, ... |
OMIM:612650 |
Ciliary Dyskinesia, Primary, 14 |
|
Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Polysplenia, Oti... |
OMIM:613807 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... |
OMIM:615500 |
C1Q Deficiency 2 |
|
Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Anemia, Arthriti... |
OMIM:620321 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent pneumonia, Nasal polyposis, Recurrent otitis media, Recurrent sinusitis, Chronic bronch... |
OMIM:608647 |
Tularemia |
|
Pneumonia, Brain abscess, Cutaneous abscess, Pleural effusion, Otitis media, Skin rash, Increased... |
ORPHA:3392 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Recurrent otitis med... |
OMIM:240500 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Recurrent sinusitis |
OMIM:300991 |
Alpha-1-Antitrypsin Deficiency |
|
Reduced circulating alpha-1-antitrypsin concentration, Splenomegaly, Chronic bronchitis, Panacina... |
OMIM:613490 |
Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... |
ORPHA:983 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... |
OMIM:615139 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Decreased circulating antibody level, Bronchiectasis, Atelectasis |
OMIM:615872 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Aspiration pneumonia |
OMIM:609528 |
Ciliary Dyskinesia, Primary, 30 |
|
Nasal polyposis, Recurrent otitis media, Chronic bronchitis, Chronic sinusitis, Recurrent respira... |
OMIM:616037 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Pneumonia, Periodontitis, Aplastic anemia, Lymphopenia, Recurrent aphthous stomatitis, Acute lymp... |
ORPHA:486 |
Neonatal Alloimmune Neutropenia |
|
Pneumonia, Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Keratitis, Eczematoid dermatitis, Recurrent otitis media, Increased circulating IgE level, Eosino... |
OMIM:618523 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Atelectasis |
OMIM:619466 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreas... |
OMIM:614069 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Nasal polyposis, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Chronic rhiniti... |
OMIM:244400 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections... |
OMIM:616100 |
Ciliary Dyskinesia, Primary, 3 |
|
Recurrent otitis media, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis |
OMIM:608644 |
Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
|
Bronchiectasis, Recurrent bronchiolitis, Chronic bronchitis |
OMIM:613021 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Recurren... |
OMIM:614878 |
Isolated Congenital Hypoglossia/Aglossia |
|
Aspiration pneumonia |
ORPHA:141152 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... |
OMIM:202700 |
Acute Lung Injury |
|
Pneumonia, Diffuse alveolar hemorrhage, Increased circulating interleukin 6 concentration, Abnorm... |
ORPHA:178320 |
Idiopathic Bronchiectasis |
|
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... |
ORPHA:60033 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a... |
ORPHA:231154 |
Aspergillosis |
|
Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Pleural effusion... |
ORPHA:1163 |
Ciliary Dyskinesia, Primary, 6 |
|
Recurrent sinusitis, Sinusitis, Recurrent respiratory infections, Absent/shortened outer dynein a... |
OMIM:610852 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent upper respiratory tract infections, Osteomyelitis, Autoimmune hemolytic anemia, Autoimm... |
OMIM:608184 |
Ciliary Dyskinesia, Primary, 22 |
|
Nasal polyposis, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis, Rhinitis, Absen... |
OMIM:615444 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Reduced natural killer cell count, Ecz... |
OMIM:243700 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemopha... |
OMIM:308240 |
Interstitial Lung Disease 1 |
|
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele... |
OMIM:619611 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Increased circulating antibody level, Lymphocytosis, Neutropenia, Mon... |
OMIM:614470 |
Ciliary Dyskinesia, Primary, 38 |
|
Bronchiectasis, Chronic sinusitis, Absent inner and outer dynein arms, Rhinitis, Chronic otitis m... |
OMIM:618063 |
Staphylococcal Necrotizing Pneumonia |
|
Pneumonia, Leukopenia, Pleural effusion, Leukocytosis, Pneumothorax, Acute infectious pneumonia, ... |
ORPHA:36238 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,... |
OMIM:619705 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... |
OMIM:242700 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Recurrent respiratory infections, Nasal polyposis, Bronchiectasis, Recurrent sinusitis |
OMIM:620197 |
Ciliary Dyskinesia, Primary, 2 |
|
Nasal polyposis, Otitis media, Sinusitis, Absent inner and outer dynein arms, Recurrent respirato... |
OMIM:606763 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Recurrent upper respiratory tract infections, Eczematoid dermatitis, Hepatosplenomegaly, Intersti... |
OMIM:615952 |
Autosomal Agammaglobulinemia |
|
Chronic otitis media, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulinemia, Arthritis, Sinusit... |
ORPHA:33110 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent pneumonia, Polysplenia, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis... |
OMIM:615482 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic mucocutaneous candidia... |
OMIM:614868 |
46,Xy Sex Reversal 3 |
|
Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ... |
OMIM:612965 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Rectal abscess, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent ... |
OMIM:601495 |
Melioidosis |
|
Pneumonia, Brain abscess, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, Abnormalit... |
ORPHA:31202 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... |
ORPHA:183675 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Pneumonia, Decreased circulating IgG level, Reduced natural killer cell count, Abnormally low T c... |
ORPHA:276 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... |
OMIM:619446 |
Pneumocystosis |
|
Interstitial pneumonitis, Pleural effusion, Increased circulating antibody level, Multiple pulmon... |
ORPHA:723 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Decreased proportion of CD8-positive... |
ORPHA:911 |
Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:211400 |
Rigid Spine Syndrome |
|
Pneumonia |
ORPHA:97244 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... |
OMIM:618534 |
Ciliary Dyskinesia, Primary, 10 |
|
Abnormal respiratory motile cilium morphology, Chronic sinusitis, Chronic otitis media, Recurrent... |
OMIM:612518 |
Whim Syndrome |
|
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Atel... |
ORPHA:51636 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Pneumonia, Reduced natural killer cell count, Decreased circulating IgA level, Chronic bronchitis... |
OMIM:242860 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... |
ORPHA:2138 |
Immunodeficiency 91 And Hyperinflammation |
|
Recurrent pneumonia, Abnormal pulmonary interstitial morphology, Hemophagocytosis, Pulmonary hemo... |
OMIM:619644 |
Fusariosis |
|
Pneumonia, Keratitis, Granuloma, Brain abscess, Fasciitis, Osteomyelitis, Abnormality of the sple... |
ORPHA:228119 |
Complement Factor B Deficiency |
|
Pneumonia, Peritonitis |
OMIM:615561 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Sinusitis, Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis |
OMIM:242670 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Pneumonia, Intraalveolar phospholipid accumulation, Brain abscess, Lung abscess, Recurrent respir... |
OMIM:610910 |
Scedosporiosis |
|
Pneumonia, Bronchitis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Septic arthritis, Pulmonar... |
ORPHA:449280 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Eczematoid dermatitis, Neutropenia |
OMIM:300299 |
Sarcoidosis, Susceptibility To, 2 |
|
Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, Erythema nodosum, Abnormal pulmonary int... |
OMIM:612387 |
Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Hirsutism |
OMIM:300510 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Recurrent sinopulmonary infections, Abnormal respiratory motile cilium morphology |
OMIM:215520 |
Leydig Cell Hypoplasia |
|
Male hypogonadism, Breast aplasia, Hypoplasia of the Leydig cells, Abnormal external genitalia, C... |
ORPHA:755 |
Complete Androgen Insensitivity Syndrome |
|
Sparse pubic hair, Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Sp... |
ORPHA:99429 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Lymphopenia, Decre... |
OMIM:616005 |
Idiopathic Pulmonary Fibrosis |
|
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Honeycomb lung, Abnormal pulmo... |
ORPHA:2032 |
Ciliary Dyskinesia, Primary, 24 |
|
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis |
OMIM:615481 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent upper respiratory tract infections, Increased circulating IgE level, Lymphopenia, Hepat... |
ORPHA:169154 |
46,Xy Sex Reversal 11 |
|
Vanishing testis, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dysgenesis with female... |
OMIM:273250 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Severe B lymphocytopenia, C... |
OMIM:102700 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac... |
OMIM:602450 |
Omenn Syndrome |
|
Pneumonia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Erythroderma, Thrombocyt... |
OMIM:603554 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Pneumonia, Abnormal T cell count, Panhypogammaglobulinemia, Recurrent otitis media, Pyoderma, Inf... |
OMIM:307200 |
Immunodeficiency 56 |
|
Recurrent pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent sinusitis, Chron... |
OMIM:615207 |
Allergic Bronchopulmonary Aspergillosis |
|
Emphysema, Abnormal eosinophil morphology, Bronchiectasis |
ORPHA:1164 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... |
ORPHA:168563 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Elevated circulating creatine kinase concentration, Aspiration pneumonia |
ORPHA:90117 |
Common Variable Immunodeficiency |
|
Pneumonia, Chronic otitis media, Emphysema, Lymphopenia, Recurrent bronchitis, Otitis media, Sple... |
ORPHA:1572 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymph... |
OMIM:618495 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor s... |
ORPHA:70578 |
Tracheobronchopathia Osteochondroplastica |
|
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec... |
ORPHA:3348 |
Felty Syndrome |
|
Recurrent pneumonia, Abnormal lymphocyte morphology, Episcleritis, Splenomegaly, Synovitis, Sinus... |
ORPHA:47612 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Pneumonia, Recurrent upper respiratory tract infections, Absent natural killer cells, Panhypogamm... |
OMIM:600802 |
Bacterial Toxic-Shock Syndrome |
|
Abscess, Glomerulonephritis, Recurrent skin infections, Osteomyelitis, Myositis, Peritonitis, Art... |
ORPHA:36234 |
Selective Igm Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce... |
ORPHA:331235 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hematocolpos, Sparse lateral eyebrow, Abnormal female external genitalia morphology, Aplasia of t... |
OMIM:277000 |
Agammaglobulinemia, X-Linked |
|
Recurrent otitis media, Prostatitis, Neutropenia, Bronchiolitis obliterans, Recurrent lower respi... |
OMIM:300755 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... |
ORPHA:37042 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Chronic mucocutaneous candidiasis, Panhypogammaglobulinemia, Pancytopenia... |
ORPHA:572 |
Ciliary Dyskinesia, Primary, 43 |
|
Recurrent upper respiratory tract infections, Chronic sinusitis, Chronic rhinitis, Recurrent lowe... |
OMIM:618699 |
Premature Ovarian Failure 7 |
|
Clitoral hypertrophy, Hypoplasia of the uterus, Absent pubic hair, Gonadal dysgenesis |
OMIM:612964 |
Avian Influenza |
|
Pneumonia, Hypoalbuminemia, Myelitis, Hepatitis, Lymphopenia, Leukopenia, Pleural effusion, Infec... |
ORPHA:454836 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... |
OMIM:610913 |
Pgm3-Cdg |
|
Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi... |
ORPHA:443811 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Abnormal circulating protein concentration, Elevated circulating carcinoemb... |
ORPHA:264675 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Pneumonia, Abnormal circulating interleukin concentration, Salmonella osteomyelitis, Lymphadenitis |
ORPHA:319552 |
46,Xy Sex Reversal 7 |
|
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... |
OMIM:233420 |
Immunodeficiency 40 |
|
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Inters... |
OMIM:616433 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Decreased circula... |
OMIM:301081 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Bronchiectasis |
ORPHA:2375 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Hirsutism, Aplasia of the uterus, Abnormal ... |
OMIM:158330 |
Chronic Beryllium Disease |
|
Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Abnormal proportio... |
ORPHA:133 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu... |
ORPHA:79127 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
Macrophage Activation Syndrome |
|
Hypoalbuminemia, Abnormal circulating interleukin concentration, Increased circulating interleuki... |
ORPHA:158061 |
Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Eczematoid dermatitis... |
OMIM:620565 |
Omenn Syndrome |
|
Pneumonia, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Erythroderma... |
ORPHA:39041 |
Ciliary Dyskinesia, Primary, 51 |
|
Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis |
OMIM:620438 |
Immunodeficiency 12 |
|
Recurrent aphthous stomatitis, Complete or near-complete absence of specific antibody response to... |
OMIM:615468 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen... |
OMIM:614172 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Aspiration pneumonia |
OMIM:619057 |
Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Bifid scrotum, Bilateral cryptorchidism, Azoospermia, Abnormality of second... |
ORPHA:90797 |
Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Leukocytosis, Pustule, Oligoarthritis, Neutrophilia, Elevated circulatin... |
OMIM:614204 |
Immunodeficiency 77 |
|
Bronchiectasis, Cutaneous abscess |
OMIM:619223 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... |
OMIM:614841 |
Immunodeficiency 58 |
|
Allergic rhinitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic oti... |
OMIM:618131 |
Adult-Onset Still Disease |
|
Neutrophilia, Hepatitis, Increased circulating ferritin concentration, Interstitial pneumonitis, ... |
ORPHA:829 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Eosinophilia, L... |
ORPHA:139402 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Anemia, Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly |
OMIM:620296 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... |
ORPHA:1916 |
Sweet Syndrome |
|
Inflammation of the large intestine, Abnormal circulating interleukin concentration, Increased ci... |
ORPHA:3243 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal neutrophil count, Recurren... |
ORPHA:3226 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Recurrent aspiration pneumonia |
OMIM:619971 |
X-Linked Centronuclear Myopathy |
|
Pneumonia, Recurrent respiratory infections |
ORPHA:596 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis |
ORPHA:70587 |
Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Reduced h... |
ORPHA:79126 |
Primary Ciliary Dyskinesia |
|
Nasal polyposis, Atelectasis, Polysplenia, Recurrent otitis media, Pulmonary situs ambiguus, Resp... |
ORPHA:244 |
Purine Nucleoside Phosphorylase Deficiency |
|
Pneumonia, Recurrent upper respiratory tract infections, Pure red cell aplasia, Lymphopenia, Otit... |
OMIM:613179 |
Brucellosis |
|
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Elevated... |
ORPHA:1304 |
Testicular Agenesis |
|
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... |
ORPHA:325124 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Chronic m... |
ORPHA:79124 |
Immunodeficiency 65, Susceptibility To Viral Infections |
|
Stomatitis, Bronchiectasis |
OMIM:618648 |
Laryngotracheoesophageal Cleft |
|
Recurrent respiratory infections, Aspiration |
ORPHA:2004 |
Graft Versus Host Disease |
|
Pneumonia, Inflammatory abnormality of the skin, Hemophagocytosis, Fasciitis, Acute hepatitis, He... |
ORPHA:39812 |
Diarrhea 12, With Microvillus Atrophy |
|
Bronchiectasis, Respiratory tract infection |
OMIM:619445 |
Bronchogenic Cyst |
|
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology |
ORPHA:2357 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteomyelitis, Skin rash, Abscess, Splenomegaly, Pustule, Neutrophilia, Elevated circulating C-re... |
OMIM:612852 |
Immunodeficiency 67 |
|
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... |
OMIM:607676 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Anemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Abnor... |
ORPHA:54251 |
Immunodeficiency 23 |
|
Allergic rhinitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Increased circulatin... |
OMIM:615816 |
Good Syndrome |
|
Recurrent skin infections, Abnormal leukocyte morphology, Thrombocytopenia, Sinusitis, Anemia, Re... |
ORPHA:169105 |
Alpha-1-Antitrypsin Deficiency |
|
Reduced circulating alpha-1-antitrypsin concentration, Hepatitis, Bronchitis, Emphysema, Pannicul... |
ORPHA:60 |
Felty Syndrome |
|
Rheumatoid arthritis, Splenomegaly, Neutropenia |
OMIM:134750 |
Q Fever |
|
Pneumonia, Granuloma, Hepatitis, Osteomyelitis, Hepatosplenomegaly, Pleural effusion, Cholecystit... |
ORPHA:781 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia |
OMIM:608033 |
Cleft Velum |
|
Recurrent otitis media, Aspiration pneumonia |
ORPHA:99772 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Pneumonia, Eczematoid dermatitis, Decreased proportion of naive T cells, Aplasia of the thymus, A... |
ORPHA:83471 |
Riddle Syndrome |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Bronchitis, Decreased circulatin... |
ORPHA:420741 |
Microsporidiosis |
|
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke... |
ORPHA:2552 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... |
OMIM:610921 |
Granulomatosis With Polyangiitis |
|
Diffuse alveolar hemorrhage, Keratitis, Nasal mucosa vasculitis, Episcleritis, Localized pulmonar... |
OMIM:608710 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Skin rash, Increased proportion of CD4-positive T cells, Increased circulating IgA ... |
OMIM:617099 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Recurrent aspiration pneumonia |
ORPHA:2590 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased circulating total IgG, Pustular rash, Recurrent otitis media, Elevated circulating C-re... |
OMIM:619381 |
Familial Mediterranean Fever |
|
Neutrophilia, Erysipelas, Pleural effusion, Leukocytosis, Splenomegaly, Crohn's disease, Orchitis... |
OMIM:249100 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Bronchiectasis, Neutropenia, Aspiration pneumonia |
OMIM:618253 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Pneumonia, Elevated circulating creatine kinase concentration |
OMIM:253700 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Interstitial pneumonitis, Abnormal pulmonary interstitial morphology, Intraalveolar phospholipid ... |
ORPHA:217563 |
Müllerian Aplasia And Hyperandrogenism |
|
High anterior hairline, Frontal balding, Abnormal vagina morphology, Abnormality of the ovary, Fa... |
ORPHA:247768 |
Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-... |
OMIM:620481 |
Vaginal Atresia |
|
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... |
ORPHA:65681 |
Shwachman-Diamond Syndrome |
|
Pneumonia, Hypoamylasemia, Normocytic anemia, Aplastic anemia, Eczematoid dermatitis, Increased m... |
ORPHA:811 |
Cryptogenic Organizing Pneumonia |
|
Elevated circulating C-reactive protein concentration, Pneumothorax, Leukocytosis, Neutrophilia |
ORPHA:1302 |
Orofaciodigital Syndrome Viii |
|
Recurrent aspiration pneumonia |
OMIM:300484 |
Yellow Nail Syndrome |
|
Rhinitis, Sinusitis, Recurrent respiratory infections, Pleuritis, Bronchiectasis, Neoplasm of the... |
ORPHA:662 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
Asthma, Nasal Polyps, And Aspirin Intolerance |
|
Nasal polyposis |
OMIM:208550 |
Nocardiosis |
|
Pneumonia, Lymphadenitis, Cutaneous abscess, Keratitis, Liver abscess, Emphysema, Osteomyelitis, ... |
ORPHA:31204 |
Severe Acute Respiratory Syndrome |
|
Acute infectious pneumonia |
ORPHA:140896 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... |
OMIM:614837 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Leukocytosis, Pustule, Eosinophilic dermal infiltra... |
ORPHA:293173 |
Meconium Aspiration Syndrome |
|
Pneumothorax, Atelectasis, Aspiration pneumonia |
ORPHA:70588 |
Bloom Syndrome |
|
Pneumonia, Decreased circulating IgG level, Bronchitis, Decreased circulating IgA level, Decrease... |
ORPHA:125 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Pneumonia, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Chronic otitis media |
ORPHA:169090 |
Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Eosinoph... |
OMIM:158310 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
Cleft Larynx, Posterior |
|
Aspiration |
OMIM:215800 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Lymphopenia, Interstitial pneumonitis, Thrombocytopenia, Gr... |
ORPHA:454831 |
Ciliary Dyskinesia, Primary, 37 |
|
Bronchiectasis, Chronic rhinitis |
OMIM:617577 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Lymphopenia, Recurrent sinusitis, T lymp... |
OMIM:607944 |
Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus |
OMIM:617442 |
Oculopharyngodistal Myopathy |
|
Recurrent aspiration pneumonia |
ORPHA:98897 |
Shigellosis |
|
Pneumonia, Microangiopathic hemolytic anemia, Ulcerative colitis, Leukocytosis, Abscess, Peritoni... |
ORPHA:810 |
Listeriosis |
|
Pneumonia, Abnormal cellular immune system morphology, Arteritis, Brain abscess, Liver abscess, O... |
ORPHA:533 |
Timothy Syndrome |
|
Pneumonia, Bronchitis |
OMIM:601005 |
Coccidioidomycosis |
|
Pneumonia, Folliculitis, Granuloma, Increased circulating IgG level, Exudative pleural effusion, ... |
ORPHA:228123 |
Renal And Mullerian Duct Hypoplasia |
|
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis |
OMIM:266810 |
Roifman-Chitayat Syndrome |
|
Pneumonia, Arthritis |
OMIM:613328 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Severe B lymphocytopenia, Recu... |
ORPHA:293978 |
46,Xx Sex Reversal 2 |
|
Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, True hermaphroditism, Ovo... |
OMIM:278850 |
Congenital Syphilis |
|
Pneumonia, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Synovitis, Anemia, Pancre... |
ORPHA:499009 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Abnormal circulating chemokine concentration, Increased circulating interleukin 6 conc... |
ORPHA:544482 |
Leukocyte Adhesion Deficiency |
|
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... |
ORPHA:2968 |
Panbronchiolitis, Diffuse |
|
Bronchiectasis |
OMIM:604809 |
Zygomycosis |
|
Pustule, Acute infectious pneumonia, Neutropenia, Endocarditis, Pleural effusion, Peritonitis, En... |
ORPHA:73263 |
Postinfectious Vasculitis |
|
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Elevated haptoglobin lev... |
ORPHA:48435 |
Alpha-Mannosidosis, Adult Form |
|
Pneumonia, Hepatosplenomegaly, Pancytopenia |
ORPHA:309288 |
Lymphoid Interstitial Pneumonia |
|
Rheumatoid arthritis, Eczematoid dermatitis, Subpleural interstitial thickening, Respiratory trac... |
ORPHA:79128 |
Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:612310 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Recurrent pneumonia, Hypoventilation, Aspiration pneumonia |
ORPHA:314655 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent sinusitis, Pulmonary artery s... |
OMIM:615067 |
Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia |
ORPHA:1867 |
Igg4-Related Kidney Disease |
|
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased circulating IgE level, ... |
ORPHA:449395 |
Hyper-Igd Syndrome |
|
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Skin rash, Splenomegaly, Serositis, Increased ci... |
OMIM:260920 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619203 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Atelectasis, Hypoventilation, Myositis, Recurrent lower respiratory tract infections, Aspiration,... |
ORPHA:258 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Eczematoid de... |
ORPHA:391487 |
Spondyloenchondrodysplasia |
|
Pneumonia, Granuloma, Hepatitis, Pancytopenia, Skin rash, Autoimmune hemolytic anemia, Arthritis,... |
ORPHA:1855 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Recurrent pneumonia, Increased circulating interleukin 8 concentration, Reduced circulating inter... |
OMIM:301220 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Aspiration pneumonia |
ORPHA:79264 |
Aicardi-Goutieres Syndrome 7 |
|
Pneumonia, Atrophic gastritis, Atopic dermatitis, Hepatitis, Increased circulating ferritin conce... |
OMIM:615846 |
Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male hypogonadism, Precocious puberty in females, Bifid scrotum, Bilateral cryptorchidism, Ovaria... |
ORPHA:90793 |
Sporadic Creutzfeldt-Jakob Disease |
|
Recurrent aspiration pneumonia |
ORPHA:204 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Decreased proporti... |
OMIM:208900 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Uterus didelphys, Septate vagina, Pseudopapilledema, Aplasia of the vagina, Aplasia of the uterus |
OMIM:146255 |
Mohr-Tranebjaerg Syndrome |
|
Agammaglobulinemia, Aspiration pneumonia |
ORPHA:52368 |
Lumbar Syndrome |
|
Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u... |
ORPHA:83628 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Pneumonia, Recurrent respiratory infections |
ORPHA:98905 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
Relapsing Fever |
|
Leukopenia, Leukocytosis, Anemia, Thrombocytopenia, Neutrophilia, Elevated circulating C-reactive... |
ORPHA:91547 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Aspiration pneumonia |
ORPHA:216866 |
Congenital Disorder Of Glycosylation, Type Im |
|
Inflammatory abnormality of the skin, Aspiration |
OMIM:610768 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Pneumonia, Inflammatory abnormality of the skin, Hypoproteinemia, Elevated circulating creatine k... |
ORPHA:26793 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Reduced natural killer cell count, Decreased circulating total IgG, Psoriasiform dermatitis, Decr... |
ORPHA:221139 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leukopenia, Interstitial pneumon... |
OMIM:127550 |
Mirage Syndrome |
|
Aspiration pneumonia, Lymphopenia, Leukopenia, Thrombocytopenia, Anemia, Hypoplastic spleen |
OMIM:617053 |
Immunodeficiency 31C |
|
Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Lymphopenia, Autoimmune ... |
OMIM:614162 |
Amyotrophic Lateral Sclerosis 21 |
|
Aspiration, Elevated circulating creatine kinase concentration |
OMIM:606070 |
Cryptococcosis |
|
Pneumonia, Osteomyelitis, Nodular pattern on pulmonary HRCT, Pleural effusion, Prostatitis, Perit... |
ORPHA:1546 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Pneumonia, Normocytic anemia, Skin rash, Normochromic anemia |
ORPHA:247691 |
Insulin-Resistance Syndrome Type B |
|
Pneumonia, Nephritis, Hypoalbuminemia, Leukopenia, Skin rash, Increased circulating IgA level, Os... |
ORPHA:2298 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Recurrent aspiration pneumonia |
ORPHA:79243 |
Cystic Fibrosis |
|
Nasal polyposis, Recurrent pneumonia, Hepatosplenomegaly, Chronic sinusitis, Pancreatitis, Recurr... |
OMIM:219700 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Aspiration, Mildly elevated creatine kinase |
ORPHA:600 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Anemia, Leukopenia, Thrombocytopenia |
OMIM:603467 |
Bronchial Neuroendocrine Tumor |
|
Pneumonia, Abnormal pulmonary interstitial morphology |
ORPHA:97287 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Sparse pubic hair, Sparse body hair, Decreased testicular size, Cryptorchidism, Polycystic ovarie... |
ORPHA:90796 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Hypoplasia of the vagina |
ORPHA:3109 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp... |
ORPHA:168558 |
Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Inflammatory abnormality of the skin, Eczematoid dermatitis, Hepatosplenomegaly, Th... |
ORPHA:3260 |
Congenital Tracheomalacia |
|
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... |
ORPHA:95430 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp... |
ORPHA:289548 |
X-Linked Dystonia-Parkinsonism |
|
Aspiration pneumonia |
ORPHA:53351 |
Tay-Sachs Disease |
|
Aspiration |
OMIM:272800 |
Hyperekplexia 1 |
|
Aspiration |
OMIM:149400 |
Hennekam-Beemer Syndrome |
|
Pneumonia, Mastocytosis |
ORPHA:2135 |
Gm1 Gangliosidosis |
|
Aspiration pneumonia, Hepatosplenomegaly, Splenomegaly, Infectious encephalitis, Recurrent respir... |
ORPHA:354 |
Sarcoidosis, Susceptibility To, 1 |
|
Inflammation of the large intestine, Emphysema, Pancytopenia, Pleural effusion, Splenomegaly, Inc... |
OMIM:181000 |
Infantile Neuroaxonal Dystrophy |
|
Aspiration pneumonia |
ORPHA:35069 |
Developmental And Epileptic Encephalopathy 38 |
|
Aspiration |
OMIM:617020 |
Townes-Brocks Syndrome 2 |
|
Bifid uterus, Rectovaginal fistula, Hypospadias |
OMIM:617466 |
Hemorrhagic Fever-Renal Syndrome |
|
Pneumonia, Increased circulating interleukin 6 concentration, Pleural effusion, Leukocytosis, Pul... |
ORPHA:340 |
Proximal Spinal Muscular Atrophy |
|
Recurrent infections due to aspiration, Recurrent aspiration pneumonia, Hypoventilation |
ORPHA:70 |
Orofaciodigital Syndrome Ix |
|
Recurrent aspiration pneumonia |
OMIM:258865 |
Gaucher Disease, Type Ii |
|
Bronchiolitis, Splenomegaly, Thrombocytopenia, Anemia, Recurrent aspiration pneumonia |
OMIM:230900 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Long penis, Precocious puberty in males, Decreased testicular size, Ambiguo... |
OMIM:202010 |
Cholera |
|
Hyperventilation, Aspiration pneumonia |
ORPHA:173 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Aspiration pneumonia |
OMIM:619167 |
Esophageal Atresia |
|
Bronchitis, Esophagitis, Recurrent respiratory infections, Aspiration, Pulmonary hypoplasia |
ORPHA:1199 |
Leukocyte Adhesion Deficiency Type Ii |
|
Recurrent pneumonia, Keratitis, Recurrent otitis media, Microcytic anemia, Leukocytosis, Abnormal... |
ORPHA:99843 |
Neuromuscular Oculoauditory Syndrome |
|
Aspiration, Elevated circulating creatine kinase concentration |
OMIM:618733 |
Amoebiasis Due To Free-Living Amoebae |
|
Pneumonia, Increased red blood cell count, Granuloma, Respiratory tract infection, Infectious enc... |
ORPHA:68 |
Sarcoidosis |
|
Abnormal pleura morphology, Abnormal nasal mucosa morphology, Erythema nodosum, Tubulointerstitia... |
ORPHA:797 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Recurrent aspiration pneumonia, Recurrent pneumonia |
OMIM:300472 |
Lissencephaly Due To Lis1 Mutation |
|
Aspiration pneumonia |
ORPHA:95232 |
Gm2-Gangliosidosis, Ab Variant |
|
Aspiration |
OMIM:272750 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Tracheobronchial leiomyomatosis, Recurrent respiratory infections, Keratitis, Aspiration pneumonia |
ORPHA:1018 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Aspiration pneumonia |
OMIM:616430 |
Spinocerebellar Ataxia Type 8 |
|
Aspiration |
ORPHA:98760 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Mercury Poisoning |
|
Interstitial pneumonitis |
ORPHA:330021 |
Neuroleptic Malignant Syndrome |
|
Aspiration pneumonia, Leukocytosis, Elevated circulating creatine kinase concentration, Thrombocy... |
ORPHA:94093 |
Oeis Complex |
|
Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute... |
OMIM:258040 |
Chops Syndrome |
|
Splenomegaly, Anomalous pulmonary venous return, Aspiration pneumonia |
OMIM:616368 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Aspiration |
ORPHA:2148 |
Pontine Tegmental Cap Dysplasia |
|
Aspiration |
OMIM:614688 |
Ogden Syndrome |
|
Peripheral pulmonary artery stenosis, Eczematoid dermatitis, Polycythemia, Recurrent otitis media... |
OMIM:300855 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Long penis, Frontal balding, Precocious puberty in females, Decreased testi... |
ORPHA:90794 |
Developmental And Epileptic Encephalopathy 100 |
|
Recurrent respiratory infections, Aspiration |
OMIM:619777 |
Pontocerebellar Hypoplasia Type 7 |
|
Optic atrophy, Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of... |
ORPHA:284339 |
Geleophysic Dysplasia 3 |
|
Pneumonia |
OMIM:617809 |
Cystic Fibrosis |
|
Nasal polyposis, Pneumothorax, Sinusitis, Recurrent lower respiratory tract infections, Recurrent... |
ORPHA:586 |
Crimean-Congo Hemorrhagic Fever |
|
Neutrophilia, Diffuse alveolar hemorrhage, Parotitis, Morbilliform rash, Pancytopenia, Leukopenia... |
ORPHA:99827 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Esophagitis, Aspiration |
ORPHA:96182 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Aspiration pneumonia |
OMIM:619482 |
Gm1 Gangliosidosis Type 1 |
|
Hepatosplenomegaly, Aspiration pneumonia |
ORPHA:79255 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Aspiration |
OMIM:618922 |
Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Aspiration pneumonia |
ORPHA:845 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Vaginal atresia, Aplasia of the uterus, Septate vagina, Uterus didelphys |
ORPHA:2237 |
Alpha-Mannosidosis, Infantile Form |
|
Pneumonia, Hepatosplenomegaly, Pancytopenia, Otitis media |
ORPHA:309282 |
Mucopolysaccharidosis, Type Vi |
|
Pneumonia, Recurrent upper respiratory tract infections, Splenomegaly |
OMIM:253200 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Pneumonia, Inflammatory abnormality of the skin, Keratitis, Skin rash, Keratoconjunctivitis sicca... |
ORPHA:95455 |
Chromosome 17Q12 Deletion Syndrome |
|
Highly arched eyebrow, Sparse eyebrow, Hypertrichosis, Nail dystrophy, Cryptorchidism, Ovarian cy... |
OMIM:614527 |
Cornelia De Lange Syndrome 1 |
|
Pneumonia, Otitis media, Thrombocytopenia |
OMIM:122470 |
Mucopolysaccharidosis Type 3 |
|
Aspiration pneumonia, Otitis media, Respiratory tract infection, Splenomegaly, Recurrent sinopulm... |
ORPHA:581 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Sparse eyebrow, Supernumerary nipple, Low posterior hairline, Abnormal reproductive system morpho... |
ORPHA:1521 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Pneumonia |
ORPHA:90790 |
Limb-Mammary Syndrome |
|
Alopecia, Absent nipple, Sparse eyebrow, Breast aplasia, Aplasia of the ovary, Aplasia of the ute... |
ORPHA:69085 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Seborrheic dermatitis, Splenomegaly, Thrombocytopenia, Aspiration pneumonia |
OMIM:301072 |
Rett Syndrome, Congenital Variant |
|
Aspiration |
OMIM:613454 |
Halperin-Birk Syndrome |
|
Aspiration |
OMIM:618651 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Abnormal hair whorl, Aplasia of the uterus, Aplasia of the vagina, Optic nerve hypoplasia |
ORPHA:457284 |
Plague |
|
Inflammation of the large intestine, Lymphadenitis, Chapped lip, Skin rash, Splenomegaly, Enteroc... |
ORPHA:707 |
Adnp Syndrome |
|
Recurrent upper respiratory tract infections, Aspiration |
ORPHA:404448 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Recurrent aspiration pneumonia |
ORPHA:73230 |
Opitz Gbbb Syndrome |
|
Aspiration |
OMIM:300000 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Pneumonia, Pyoderma, Pneumothorax, Gastrointestinal inflammation, Anemia, Recurrent skin infections |
ORPHA:79404 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pneumonia, Anomalous pulmonary venous return |
ORPHA:99104 |
Liver Disease, Severe Congenital |
|
Pneumonia, Eczematoid dermatitis, Increased circulating ferritin concentration, Recurrent otitis ... |
OMIM:619991 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Aspiration |
OMIM:614653 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina |
OMIM:271520 |
Meckel Syndrome 14 |
|
Aplasia of the uterus, Ambiguous genitalia |
OMIM:619879 |
Bickerstaff Brainstem Encephalitis |
|
Pneumonia, Respiratory tract infection |
ORPHA:79138 |
Oculopharyngodistal Myopathy 1 |
|
Aspiration, Elevated circulating creatine kinase concentration |
OMIM:164310 |
Alternating Hemiplegia Of Childhood |
|
Aspiration |
ORPHA:2131 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
ORPHA:3320 |
Marshall-Smith Syndrome |
|
Recurrent aspiration pneumonia, Recurrent upper respiratory tract infections, Aspiration pneumonia |
OMIM:602535 |
Degcags Syndrome |
|
Pneumonia, Hepatosplenomegaly, Pancytopenia, Leukopenia, Iron deficiency anemia, Abnormal spleen ... |
OMIM:619488 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Recurrent aspiration pneumonia, Recurrent respiratory infections |
ORPHA:397715 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Aspiration pneumonia |
ORPHA:99027 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Recurrent aspiration pneumonia, Peripheral pulmonary artery stenosis, Blepharitis, Elevated circu... |
ORPHA:280633 |
Yellow Fever |
|
Leukocytosis, Skin rash, Elevated circulating creatine kinase concentration, Thrombocytopenia, Ne... |
ORPHA:99829 |
Phocomelia, Schinzel Type |
|
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism |
ORPHA:2879 |
Atrial Septal Defect, Ostium Secundum Type |
|
Pneumonia |
ORPHA:99103 |
Miller-Dieker Lissencephaly Syndrome |
|
Recurrent aspiration pneumonia |
OMIM:247200 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Pneumonia, Recurrent respiratory infections, Aspiration, Otitis media |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Pneumonia, Recurrent respiratory infections, Aspiration, Otitis media |
ORPHA:353277 |
Coffin-Siris Syndrome |
|
Recurrent upper respiratory tract infections, Aspiration pneumonia |
ORPHA:1465 |
Fanconi Anemia, Complementation Group L |
|
Micropenis, Aplasia of the uterus |
OMIM:614083 |
Niemann-Pick Disease Type C |
|
Aspiration pneumonia, Hepatosplenomegaly, Splenomegaly, Abnormal lung morphology, Bone-marrow foa... |
ORPHA:646 |
Bilateral Perisylvian Polymicrogyria |
|
Aspiration |
ORPHA:98889 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Atopic dermatitis, Recurrent otitis media, Hepatosplenomegaly, Hemolytic anemia, Aspiration, Chro... |
OMIM:619503 |
Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Aspiration pneumonia |
ORPHA:2020 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Cryptorchidism, Aplasia of the uterus, Ambiguous genitalia, Penoscrotal hypospadia... |
OMIM:618280 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hypersplenism, Interstitial pneumonitis, Splenomegaly, Thrombocytopenia, Acute promyelocytic leuk... |
ORPHA:77293 |
Exstrophy-Epispadias Complex |
|
Penoscrotal transposition, Bifid scrotum, Cystocele, Cryptorchidism, Bifid penis, Bifid uterus, A... |
ORPHA:322 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Pneumonia, Recurrent respiratory infections, Otitis media |
ORPHA:353281 |
Arboleda-Tham Syndrome |
|
Recurrent respiratory infections, Recurrent otitis media, Conjunctivitis, Recurrent aspiration pn... |
OMIM:616268 |
Opitz Gbbb Syndrome |
|
Recurrent aspiration pneumonia |
ORPHA:2745 |
Coffin-Siris Syndrome 1 |
|
Facial hypertrichosis, Dry hair, Clitoral hypertrophy, Hypertrichosis, Long eyelashes, Thick eyeb... |
OMIM:135900 |
Wiedemann-Rautenstrauch Syndrome |
|
Pneumonia, Hypoplasia of the thymus, Recurrent respiratory infections |
OMIM:264090 |
Acrofacial Dysostosis, Cincinnati Type |
|
Recurrent otitis media, Pulmonary artery stenosis, Pulmonary artery aneurysm, Aspiration |
OMIM:616462 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Aspiration pneumonia |
ORPHA:444077 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Abscess, Anemia, Tooth abscess, Septic arthritis, Recurrent aspiration ... |
ORPHA:642 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Anemia, Hypoventilation, Aspiration pneumonia |
ORPHA:438213 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
OMIM:274000 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Uterine rupture, Cystocele, Alopecia of scalp, Cryptorchidism, Uterine prolapse, Cervical insuffi... |
OMIM:130050 |
Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Highly arched eyebrow, Cryptorchidism, Low posterior hairline, Aplasia of the... |
OMIM:194190 |
Fontaine Progeroid Syndrome |
|
Recurrent aspiration pneumonia, Pneumothorax, Pulmonary hypoplasia |
OMIM:612289 |
Okamoto Syndrome |
|
Bifid uterus, Facial hypertrichosis, Extension of hair growth on temples to lateral eyebrow, Hype... |
ORPHA:2729 |
Semilobar Holoprosencephaly |
|
Aspiration pneumonia |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Aspiration pneumonia |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Aspiration pneumonia |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Aspiration pneumonia |
ORPHA:93924 |
Doors Syndrome |
|
Thrombocytosis, Aspiration pneumonia |
ORPHA:79500 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, Aplasia of th... |
OMIM:276820 |
Lafora Disease |
|
Recurrent aspiration pneumonia |
ORPHA:501 |
Kabuki Syndrome 1 |
|
Recurrent otitis media, Recurrent aspiration pneumonia, Autoimmune thrombocytopenia, Hemolytic an... |
OMIM:147920 |
Neu-Laxova Syndrome 1 |
|
Absent eyelashes, Bifid uterus, Cryptorchidism |
OMIM:256520 |
Hydrolethalus Syndrome 1 |
|
Bifid uterus, Hypospadias, Abnormal vagina morphology |
OMIM:236680 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Cryptorchidism, Rectoperineal fistula, Bifid uterus, Rectovaginal fistula, Hypospa... |
OMIM:107480 |
Pallister-Killian Syndrome |
|
Small scrotum, Sparse eyebrow, Alopecia, Supernumerary nipple, Sparse anterior scalp hair, Crypto... |
OMIM:601803 |
Vascular Ehlers-Danlos Syndrome |
|
Alopecia, Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Aplasia/Hypoplasia of the... |
ORPHA:286 |
Norrie Disease |
|
Optic atrophy, Uterine rupture, Cryptorchidism |
ORPHA:649 |
Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
Pmm2-Cdg |
|
Hypoalbuminemia, Aspiration pneumonia, Reduced thyroxin-binding globulin, Impaired neutrophil che... |
ORPHA:79318 |
Yunis-Varon Syndrome |
|
Aspiration pneumonia |
OMIM:216340 |