Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Reticular pigmentary degeneration, Retinal dystrophy, Drusen |
OMIM:267800 |
Immunodeficiency 51 |
|
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Folliculitis, Chronic furunculos... |
OMIM:613953 |
Immunodeficiency 24 |
|
Respiratory tract infection, Decreased specific pneumococcal antibody level, Defective T cell pro... |
OMIM:615897 |
Macular Degeneration, Age-Related, 13 |
|
Macular scar, Macular degeneration, Choroidal neovascularization, Drusen |
OMIM:615439 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Combined Immunodeficiency, X-Linked |
|
Recurrent bronchitis, Sinusitis, Otitis media, Pneumonia, Decreased circulating IgG level |
OMIM:312863 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Recurrent sinusitis, Complete or near-complete absence of specif... |
OMIM:613494 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Caspase 8 Deficiency |
|
Decreased T cell activation, Decreased circulating total IgM, Asthma, Eczema, Recurrent sinopulmo... |
OMIM:607271 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Recurrent respiratory infections, Decreased circulating IgA level |
OMIM:137050 |
Retinitis Pigmentosa 36 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:610599 |
Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment |
OMIM:617572 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Immunodeficiency 95 |
|
Increased circulating IgG3 level, Respiratory distress, Decreased circulating IgG3 level, Respira... |
OMIM:619773 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... |
OMIM:605258 |
Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal exudate, Retinal detachment |
OMIM:605750 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level, Glomerulonephritis, Pneumonia |
OMIM:247800 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Cutaneous abs... |
OMIM:618944 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Decreased circulating total IgM, Bronchiectasis, Asthma, Ulcerative colitis, Colonic eosinophilia... |
OMIM:617638 |
Immunodeficiency 48 |
|
Eczematoid dermatitis, Recurrent respiratory infections, Panhypogammaglobulinemia, Pneumonia |
OMIM:269840 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating total IgM, Reduced natural killer cell activity, Chronic oral candidiasis, ... |
OMIM:300400 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... |
OMIM:312700 |
Immunodeficiency, Common Variable, 3 |
|
Conjunctivitis, Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced... |
OMIM:613493 |
Immunodeficiency, Common Variable, 1 |
|
Conjunctivitis, Decreased circulating total IgM, Bronchiectasis, Recurrent bronchitis, Recurrent ... |
OMIM:607594 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Impaired Ig class switch recombination, Recurrent upper and lower respiratory tract... |
OMIM:608106 |
Immunodeficiency, Common Variable, 2 |
|
Conjunctivitis, Lymphoma, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent ot... |
OMIM:240500 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Late-Onset Retinal Degeneration |
|
Retinopathy, Sub-RPE deposits, Retinal degeneration, Choroidal neovascularization, Chorioretinal ... |
OMIM:605670 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Atopic dermatitis, Squamous cell carcinoma of the vulva, Ast... |
ORPHA:217390 |
X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology |
ORPHA:1852 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... |
ORPHA:70593 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating total IgM, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, ... |
OMIM:613502 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,... |
ORPHA:59181 |
Immunodeficiency 61 |
|
Decreased circulating total IgM, Recurrent respiratory infections, Arthritis, Decreased circulati... |
OMIM:300310 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua... |
OMIM:180210 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Lymphoma, Decreased T cell activation, Bronchiectasis, Recurrent respiratory infections, Recurren... |
OMIM:300853 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating total IgM, Recurrent respiratory infections, Recurrent otitis media, Recurr... |
OMIM:613500 |
Immunodeficiency 62 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... |
OMIM:618459 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating total IgM, Recurrent respiratory infections, Recurrent sinusitis, Decreased... |
OMIM:619707 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Conjunctivitis, Decreased circulating total IgM, Recurrent bronchitis, Chronic sinusitis, Recurre... |
OMIM:612692 |
Familial Drusen |
|
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... |
ORPHA:75376 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgA leve... |
OMIM:606843 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Bronchiectasis, Decreased circulating antibody level, Recurrent ... |
OMIM:193670 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Decreased circulating tot... |
OMIM:614699 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Macular hemorrhage, Macular degeneration, Choroidal neovascularization, Foveal hy... |
OMIM:603075 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 22 concentration, Crohn's disease, Bronchiectasis, Reduced circul... |
OMIM:619632 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Bronchiectasis, Decreased circulating IgG2 level, Recurrent sinopulmonary infections, Increased c... |
OMIM:615513 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Recurrent sinopulmonary infections |
OMIM:609529 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Decre... |
OMIM:615139 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Facial papilloma, Bronchiectasis, Increased circulating IgG level, Recurrent otitis media, Increa... |
OMIM:619220 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Conjunctivitis, Panhypogammaglobulinemia, Purulent rhinitis, Arthritis, Otitis media, Pneumonia |
OMIM:601457 |
Immunodeficiency 11 |
|
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Recurrent respiratory infectio... |
OMIM:615206 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating total IgM, Recurrent sinusitis, Defective B cell differentiation, Decreased... |
OMIM:617765 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Recurrent bronchopulmonary infections, Decreased circulating total IgM |
OMIM:610798 |
Birdshot Chorioretinopathy |
|
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... |
ORPHA:179 |
Pneumocystosis |
|
Respiratory insufficiency, Exertional dyspnea, Chronic oral candidiasis, Increased circulating an... |
ORPHA:723 |
Immunoglobulin A Deficiency 1 |
|
Recurrent respiratory infections, Decreased circulating IgA level |
OMIM:137100 |
Ige Responsiveness, Atopic |
|
Asthma, Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Bronchiectasis, Decreased circulating antibody level, Chronic pulmonary obstr... |
OMIM:616576 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Chronic bronchitis, Decreased circulating total IgM, Decreased circulating antibody level, Recurr... |
OMIM:614069 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Respiratory tract infection, Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Bronchioli... |
ORPHA:1303 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Interstitial Lung Disease 2 |
|
Pulmonary arterial hypertension, Elevated bronchoalveolar lavage fluid neutrophil proportion, Exe... |
OMIM:178500 |
Retinitis Pigmentosa 70 |
|
Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... |
OMIM:615922 |
Immunodeficiency 70 |
|
Decreased circulating total IgM, Decreased circulating antibody level, Recurrent sinusitis, Decre... |
OMIM:618969 |
Ciliary Dyskinesia, Primary, 9 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Chroni... |
OMIM:612444 |
Acute Lung Injury |
|
Abnormal pulmonary interstitial morphology, Increased circulating interleukin 6 concentration, Ab... |
ORPHA:178320 |
Retinitis Pigmentosa 50 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Opt... |
OMIM:613194 |
Retinitis Pigmentosa 32 |
|
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... |
OMIM:609913 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Decreased specific antibody response to polysaccharide vaccine, ... |
OMIM:616452 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:618987 |
Immunodeficiency 102 |
|
Verrucae, Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Bro... |
OMIM:301082 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Bronchiectasis, Recurrent otitis media, Increased circulating IgE le... |
OMIM:618982 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Decreased lymphocyte proliferation in response to mitogen, Increased ci... |
ORPHA:169160 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Isolated Congenital Hypoglossia/Aglossia |
|
Aspiration pneumonia, Hamartoma, Respiratory distress, Upper airway obstruction, Dyspnea |
ORPHA:141152 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Enterocolitis, Decreased circulating total IgM, Interstitial pneumonitis, Recurrent sinopulmonary... |
OMIM:614878 |
Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Pulmonary edema, Abnormality of tumor necrosis... |
ORPHA:70578 |
Ciliary Dyskinesia, Primary, 44 |
|
Bronchiectasis, Reduced forced vital capacity, Recurrent sinusitis, Otitis media, Neonatal respir... |
OMIM:618781 |
Retinitis Pigmentosa 13 |
|
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... |
OMIM:600059 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Bronchiectasis, Decreased circulating antibody level, Skin rash, Inflammation o... |
OMIM:618108 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Inflammatory abnormality of the skin, Recurrent otitis media, Recurrent ... |
ORPHA:277 |
Ciliary Dyskinesia, Primary, 42 |
|
Respiratory insufficiency, Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chr... |
OMIM:618695 |
Myeloma, Multiple |
|
Paraproteinemia, Multiple myeloma |
OMIM:254500 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Bronchiectasis, Myelodysplasia, Impaired Ig class switch recombination, Recurrent ... |
OMIM:608184 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level, Recurrent respiratory infections |
OMIM:614102 |
Ciliary Dyskinesia, Primary, 21 |
|
Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Recurren... |
OMIM:615294 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, Reduced natural killer cell activity, Recurrent sinusitis, Infla... |
OMIM:619281 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Decreased circulating total IgM, Bronchiectasis, Eosinophilic infiltration of the esophagus, Asth... |
OMIM:243700 |
Ciliary Dyskinesia, Primary, 23 |
|
Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... |
OMIM:615451 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Recurrent sinopulmonary infecti... |
OMIM:618394 |
Ciliary Dyskinesia, Primary, 33 |
|
Bronchiectasis, Recurrent bronchitis, Recurrent otitis media, Chronic rhinitis, Recurrent pneumon... |
OMIM:616726 |
Immunodeficiency 104 |
|
Eczema, Chronic mucocutaneous candidiasis, Recurrent otitis media, Otitis media, Pneumonia |
OMIM:608971 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Immunodeficiency 64 With Lymphoproliferation |
|
Decreased lymphocyte proliferation in response to mitogen, Bronchiectasis, Recurrent lower respir... |
OMIM:618534 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Decreased circulating total IgM, Bronchiectasis, Asthma, Cutaneous abscess, Chronic mucocutaneous... |
OMIM:619752 |
Idiopathic Achalasia |
|
Bronchitis, Cough, Wheezing, Recurrent aspiration pneumonia |
ORPHA:930 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Bronchiectasis, Viral hepatitis, Psoriasiform dermatitis, Pneumonia, Atopic dermatitis, Decreased... |
ORPHA:183675 |
Oculorenocerebellar Syndrome |
|
Retinal degeneration, Choreoathetosis |
OMIM:257970 |
Mucus Inspissation Of Respiratory Tract |
|
Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, Recurrent respiratory infection... |
OMIM:253240 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Bronchiectasis, Recurrent sinusitis, Colitis, Pneumonia, Decreased circulating IgG level, Decreas... |
OMIM:614700 |
Idiopathic Bronchiectasis |
|
Respiratory tract infection, Bronchiectasis, Productive cough, Abnormal respiratory system physio... |
ORPHA:60033 |
Immunodeficiency 44 |
|
Abnormal circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM |
OMIM:616636 |
Immunodeficiency 25 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... |
OMIM:610163 |
Ciliary Dyskinesia, Primary, 27 |
|
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... |
OMIM:615504 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis |
OMIM:618806 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Decreased c... |
OMIM:616100 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphoma, Recurrent bacterial skin infections, Recurrent cutaneous fungal infections, Chronic ora... |
ORPHA:276 |
Aspergillosis |
|
Osteomyelitis, Bronchiectasis, Asthma, Hepatitis, Pleuritis, Abnormality on pulmonary function te... |
ORPHA:1163 |
Young Syndrome |
|
Recurrent bronchitis, Recurrent sinopulmonary infections, Bronchiectasis, Congenital pulmonary ai... |
OMIM:279000 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Panhypogammaglobulinemia, Abnormality of B cell physiology, Recurrent otitis media, Cutaneous ane... |
OMIM:600802 |
Ciliary Dyskinesia, Primary, 46 |
|
Bronchiectasis, Reduced forced vital capacity, Recurrent otitis media, Recurrent sinusitis, Recur... |
OMIM:619436 |
Immunodeficiency 43 |
|
Decreased specific antibody response to polysaccharide vaccine, Bronchiectasis, Lung abscess, Rec... |
OMIM:241600 |
Immunodeficiency 32B |
|
Abnormal circulating IgG level, Recurrent respiratory infections, Bronchiectasis, Sinusitis, Impa... |
OMIM:226990 |
Mounier-Kühn Syndrome |
|
Bronchitis, Recurrent bronchopulmonary infections, Recurrent respiratory infections, Pneumonia |
ORPHA:3347 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Immunodeficiency 52 |
|
Recurrent pneumonia, Chronic lung disease, Bronchiectasis, Decreased circulating antibody level |
OMIM:617514 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration |
OMIM:193230 |
Muscular Hypertonia, Lethal |
|
Pneumonia, Respiratory distress |
OMIM:254120 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Retinal hole, Falciform retinal ... |
OMIM:305390 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM |
OMIM:606445 |
Immunodeficiency 27A |
|
Abnormal bronchus physiology, Increased inflammatory response, Increased circulating IgM level, S... |
OMIM:209950 |
Ciliary Dyskinesia, Primary, 39 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent otitis media, Rhinorrhea, Cough, Chronic ... |
OMIM:618254 |
Immunodeficiency 92 |
|
Osteomyelitis, Sclerosing cholangitis, Esophagitis, Cholangitis, Pneumonia, Decreased circulating... |
OMIM:619652 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating total IgM, B Acute Lymphoblastic Leukemia, Decreased circulating IgE, Recur... |
OMIM:619824 |
Immunodeficiency 105 |
|
Decreased circulating total IgM, Decreased circulating antibody level, Skin rash, B-cell lymphoma... |
OMIM:619924 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Osteomyelitis, Chronic oral candidiasis, Bronchiectasis, Eczema, Recurrent sinusitis, Recurrent o... |
OMIM:618282 |
Immunodeficiency 56 |
|
Panhypogammaglobulinemia, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Cholangiti... |
OMIM:615207 |
Immunodeficiency 96 |
|
Decreased circulating total IgM, Defective T cell proliferation, Eczema, Recurrent otitis media, ... |
OMIM:619774 |
Tularemia |
|
Conjunctivitis, Erythema nodosum, Increased circulating antibody level, Skin rash, Inflammatory a... |
ORPHA:3392 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Cough, Neonatal respiratory di... |
OMIM:300991 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Reduced antigen-specific T cell proliferation, Eczema, Bronchiolitis obliterans, Increased circul... |
OMIM:617241 |
Ciliary Dyskinesia, Primary, 3 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Neonat... |
OMIM:608644 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Bronchiectasis, Eczema, Recurrent otitis media, Keratitis, Recurrent respiratory infections, Incr... |
OMIM:618523 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
ORPHA:859 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
Immunodeficiency 58 |
|
Chronic bronchitis, Bronchiectasis, Eczema, Recurrent cutaneous abscess formation, Colitis, Verru... |
OMIM:618131 |
Ciliary Dyskinesia, Primary, 28 |
|
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... |
OMIM:615505 |
Autosomal Agammaglobulinemia |
|
Conjunctivitis, Osteomyelitis, Recurrent respiratory infections, Bronchiectasis, Hepatitis, Skin ... |
ORPHA:33110 |
Ciliary Dyskinesia, Primary, 7 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent otitis media, Chronic rhinitis, Recurrent... |
OMIM:611884 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Falciform retinal fold, Posterior vitreous deta... |
OMIM:133780 |
Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
Severe Acute Respiratory Syndrome |
|
Hypoxemia, Respiratory distress, Dyspnea, Cough, Neoplasm, Respiratory failure requiring assisted... |
ORPHA:140896 |
Ciliary Dyskinesia, Primary, 20 |
|
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... |
OMIM:615067 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Chronic bronchitis, Bronchiectasis, Sinusitis, Decreased circulating IgA level, Increased circula... |
OMIM:242860 |
Bronchiectasis With Or Without Elevated Sweat Chloride 3 |
|
Chronic bronchitis, Bronchiectasis |
OMIM:613071 |
Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
|
Chronic bronchitis, Bronchiectasis |
OMIM:211400 |
Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
|
Chronic bronchitis, Bronchiectasis |
OMIM:613021 |
Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Bronchiectasis, Hepatocellular carcinoma, Chronic pulmonary obstruction, Dysp... |
OMIM:613490 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Chronic bronchitis, Bronchiectasis, Impaired neutrophil chemotaxis, Recurrent sinu... |
OMIM:618986 |
Ciliary Dyskinesia, Primary, 24 |
|
Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Chronic pulmonary obstruction, Recu... |
OMIM:615481 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating total IgM, Asthma, Recurrent sinusitis, Recurrent otitis media, Recurrent p... |
OMIM:615577 |
Ciliary Dyskinesia, Primary, 29 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent respiratory infections, Ciliary dyskinesi... |
OMIM:615872 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Enteroviral encephalitis, Decreased T cell activation, Recurrent lower respiratory tract infectio... |
OMIM:308230 |
Ciliary Dyskinesia, Primary, 25 |
|
Chronic bronchitis, Bronchiectasis, Productive cough, Immotile cilia, Chronic pulmonary obstructi... |
OMIM:615482 |
Whim Syndrome |
|
Lymphadenitis, Papilloma, Respiratory tract infection, Verrucae, Bronchiectasis, Decreased circul... |
ORPHA:51636 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Pulmonary fibrosis, Decreased circulating total IgM, Decreased c... |
OMIM:611926 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Verrucae, Recurrent aphthous stomatitis, Chronic oral candidiasis, Juvenile rheumatoid arthritis,... |
ORPHA:275 |
Ciliary Dyskinesia, Primary, 11 |
|
Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Immotile cilia, Recurrent sinus... |
OMIM:612649 |
Tracheobronchopathia Osteochondroplastica |
|
Respiratory insufficiency, Bronchitis, Exertional dyspnea, Productive cough, Recurrent respirator... |
ORPHA:3348 |
Common Variable Immunodeficiency |
|
Lymphoma, Recurrent respiratory infections, Bronchiectasis, Decreased circulating antibody level,... |
ORPHA:1572 |
Interstitial Lung Disease 1 |
|
Intralobular septal thickening, Elevated bronchoalveolar lavage fluid neutrophil proportion, Elev... |
OMIM:619611 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... |
OMIM:619466 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Lymphadenitis, Salmonella osteomyelitis, Pneumonia, Abnormal circulating interleukin concentration |
ORPHA:319552 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Aspiration pneumonia |
OMIM:609528 |
Ciliary Dyskinesia, Primary, 41 |
|
Recurrent otitis media, Impaired nasal mucociliary clearance, Recurrent sinusitis, Bronchiectasis |
OMIM:618449 |
Rigid Spine Syndrome |
|
Respiratory insufficiency, Pneumonia, Abnormality on pulmonary function testing |
ORPHA:97244 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... |
OMIM:193235 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Conjunctivitis, Panhypogammaglobulinemia, Recurrent respiratory infections, Bronchiectasis, Decre... |
OMIM:601495 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Periodontitis, Recurrent otitis media, Pneumonia, Reduction of neutrophil motility, Bronchiolitis |
OMIM:266265 |
Ciliary Dyskinesia, Primary, 26 |
|
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... |
OMIM:615500 |
Immunodeficiency 75 With Lymphoproliferation |
|
Lymphoma, Recurrent respiratory infections, Bronchiectasis |
OMIM:619126 |
Ciliary Dyskinesia, Primary, 32 |
|
Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Chronic pulmonary obstruction, Recu... |
OMIM:616481 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Osteomyelitis, Decreased circulating total IgM, Decreased circulating antibody level, Complete or... |
OMIM:301081 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Chronic bronchitis, Bronchiectasis, Honeycomb lung, Hypoxemia, Chron... |
ORPHA:79127 |
Idiopathic Pulmonary Fibrosis |
|
Abnormal pulmonary interstitial morphology, Exertional dyspnea, Bronchiectasis, Honeycomb lung, R... |
ORPHA:2032 |
Immunodeficiency 85 And Autoimmunity |
|
Oligoarthritis, Decreased circulating total IgM, Eczema, Decreased circulating IgE, Decreased cir... |
OMIM:619510 |
Selective Igm Deficiency |
|
Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Atopic dermat... |
ORPHA:331235 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Agammaglobulinemia, Decreased c... |
OMIM:619705 |
Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, Bronchiectasis, B-cell lymphoma, Recurrent upper respiratory tract in... |
OMIM:616005 |
Agammaglobulinemia, X-Linked |
|
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... |
OMIM:300755 |
Ciliary Dyskinesia, Primary, 5 |
|
Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... |
OMIM:608647 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory insufficiency, Desquamative interstitial pneumonitis, Bronchiectasis, Decreased DLCO,... |
OMIM:610913 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Desquamative interstitial pneumonitis, Decreased circulating antibody level, Interstitial pneumon... |
OMIM:615952 |
Tracheobronchomegaly |
|
Recurrent bronchopulmonary infections, Bronchiectasis |
OMIM:275300 |
Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function |
OMIM:267500 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating total IgM, Inflammatory abnormality of the skin, Asthma, Skin rash, Decreas... |
OMIM:102700 |
Bloom Syndrome |
|
Acute myeloid leukemia, Myelodysplasia, Esophageal neoplasm, Acute lymphoblastic leukemia, Neopla... |
ORPHA:125 |
Scedosporiosis |
|
Bronchitis, Septic arthritis, Endocarditis, Osteomyelitis, Pleural empyema, Pleuritis, Abnormal r... |
ORPHA:449280 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Conjunctivitis, Septic arthritis, Panhypogammaglobulinemia, Prostatitis, Pyoderma, Enteroviral he... |
OMIM:307200 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Increased circulating IgG level, Recurrent otitis media, Lympho... |
OMIM:618495 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Dyspnea, Cough, Respiratory failure, Respiratory failure requiring assisted... |
ORPHA:90117 |
Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
Complement Factor B Deficiency |
|
Decreased circulating complement factor B concentration, Peritonitis, Pneumonia |
OMIM:615561 |
Ciliary Dyskinesia, Primary, 12 |
|
Decreased nasal nitric oxide, Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, C... |
OMIM:612650 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Intraalveolar phospholipid accumulation, Hypoxemia, Lung abscess, Decreased DLCO, Inspiratory cra... |
OMIM:610910 |
Ciliary Dyskinesia, Primary, 35 |
|
Decreased nasal nitric oxide, Bronchiectasis, Productive cough, Chronic sinusitis, Chronic rhinit... |
OMIM:617092 |
Ciliary Dyskinesia, Primary, 15 |
|
Chronic bronchitis, Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Recurrent pneumoni... |
OMIM:613808 |
Bare Lymphocyte Syndrome, Type Ii |
|
Panhypogammaglobulinemia, Chronic mucocutaneous candidiasis, Cholangitis, Viral hepatitis, Cutane... |
OMIM:209920 |
Familial Nasal Acilia |
|
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Recurrent upper respir... |
ORPHA:922 |
Ciliary Dyskinesia, Primary, 14 |
|
Chronic bronchitis, Bronchiectasis, Chronic sinusitis, Recurrent pneumonia, Abnormal ciliary moti... |
OMIM:613807 |
Ciliary Dyskinesia, Primary, 17 |
|
Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Chronic rhinitis, Cough, Recurrent res... |
OMIM:614679 |
Ciliary Dyskinesia, Primary, 34 |
|
Decreased nasal nitric oxide, Bronchiectasis, Reduced respiratory ciliary beating frequency, Recu... |
OMIM:617091 |
Riddle Syndrome |
|
Bronchitis, Abnormal pulmonary interstitial morphology, Decreased circulating total IgM, Arthriti... |
ORPHA:420741 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Bronchiectasis |
OMIM:620032 |
Isolated Agammaglobulinemia |
|
Recurrent respiratory infections, Skin rash, Inflammatory abnormality of the eye, Arthritis, Recu... |
ORPHA:229717 |
Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis |
OMIM:618801 |
Yellow Nail Syndrome |
|
Pulmonary arterial hypertension, Rhinitis, Bronchiectasis, Pleuritis, Sarcoma, Biliary tract neop... |
ORPHA:662 |
Purine Nucleoside Phosphorylase Deficiency |
|
Lymphoma, Decreased lymphocyte proliferation in response to mitogen, Abnormality of B cell physio... |
OMIM:613179 |
Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas |
ORPHA:1203 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Decreased circulating total IgM, Decreased lymphocyte proliferation in r... |
ORPHA:35078 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Rhinitis, Panhypogammaglobulinemia, Lack of T cell function, Decreased lymphocyte proliferation i... |
ORPHA:572 |
Immunodeficiency 22 |
|
Decreased circulating total IgM, Chronic oral candidiasis, Decreased circulating IgE, Pericarditi... |
OMIM:615758 |
Ciliary Dyskinesia, Primary, 16 |
|
Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Abnormal ciliary motility, Chronic otitis me... |
OMIM:614017 |
Ciliary Dyskinesia, Primary, 30 |
|
Respiratory insufficiency, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Resp... |
OMIM:616037 |
Good Syndrome |
|
Thymoma, Bronchiectasis, Decreased circulating antibody level, Dyspnea, Sinusitis, Cough, Recurre... |
ORPHA:169105 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchiolitis, Chronic otitis... |
OMIM:604571 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Recurrent bacterial skin infections, Lymphoma, Chronic oral candidiasis, Decreased... |
ORPHA:911 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Craz... |
ORPHA:264675 |
Ciliary Dyskinesia, Primary, 43 |
|
Bronchiectasis, Productive cough, Chronic sinusitis, Chronic rhinitis, Recurrent upper respirator... |
OMIM:618699 |
Ciliary Dyskinesia, Primary, 38 |
|
Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough, Immotile cilia, Chronic... |
OMIM:618063 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interleukin 6 concentration, Pulmonary edema, Abnormality of serum cytokine... |
ORPHA:542323 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Neonatal asphyxia, Congenital laryngeal stridor, Bronchiectasis |
ORPHA:2375 |
Ciliary Dyskinesia, Primary, 19 |
|
Rhinitis, Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary ... |
OMIM:614935 |
Tempi Syndrome |
|
Hypoxemia, Hemangioma, Transudative pleural effusion, Increased circulating IgG level, Abnormalit... |
ORPHA:284227 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Bronchiectasis, Pyoderma, Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, ... |
OMIM:242700 |
Infant Acute Respiratory Distress Syndrome |
|
Respiratory tract infection, Pulmonary edema, Nasal flaring, Hypoxemia, Respiratory failure, Pneu... |
ORPHA:70587 |
Sarcoidosis, Susceptibility To, 2 |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Pneumothorax, Bronch... |
OMIM:612387 |
Ciliary Dyskinesia, Primary, 22 |
|
Rhinitis, Chronic bronchitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insuffici... |
OMIM:615444 |
Staphylococcal Necrotizing Pneumonia |
|
Pneumothorax, Pleural empyema, Hypoxemia, Respiratory distress, Tachypnea, Pleural effusion, Pulm... |
ORPHA:36238 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Respiratory failure, Aspiration pneumonia, Neonatal respiratory distress |
OMIM:619057 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent aphthous stomatitis, Rhinitis, Periodontitis, Myelodysplasia, A... |
ORPHA:486 |
Ciliary Dyskinesia, Primary, 13 |
|
Bronchiectasis, Immotile cilia, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media... |
OMIM:613193 |
Immunodeficiency 40 |
|
Respiratory tract infection, Chronic oral candidiasis, Interstitial pneumonitis, Reduced antigen-... |
OMIM:616433 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Panhypogammaglobulinemia, Recurrent upper respiratory tract infections, Otitis media, Pneumonia, ... |
OMIM:602450 |
X-Linked Centronuclear Myopathy |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Respiratory distress, Recurrent re... |
ORPHA:596 |
Panbronchiolitis, Diffuse |
|
Bronchiectasis, Rhonchi, Hypoxemia, Crackles, Cough, Wheezing |
OMIM:604809 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Paraseptal em... |
OMIM:610921 |
Ciliary Dyskinesia, Primary, 1 |
|
Bronchiectasis, Immotile cilia, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis, Chroni... |
OMIM:244400 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Decreased circulating total IgM, Decreased lymphocyte proliferation in response to... |
ORPHA:331206 |
Immunodeficiency 13 |
|
Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Recurrent upper... |
OMIM:615518 |
Pancreatic Agenesis 2 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency |
OMIM:615935 |
Pgm3-Cdg |
|
Lymphoma, Osteomyelitis, Bronchiectasis, Allergic rhinitis, Asthma, Reduced antigen-specific T ce... |
ORPHA:443811 |
Fusariosis |
|
Maculopapular exanthema, Osteomyelitis, Bronchiectasis, Productive cough, Arthritis, Fasciitis, L... |
ORPHA:228119 |
Avian Influenza |
|
Conjunctivitis, Myelitis, Pneumothorax, Productive cough, Hepatitis, Hypoxemia, Respiratory distr... |
ORPHA:454836 |
Q Fever |
|
Endocarditis, Abnormal pulmonary interstitial morphology, Myocarditis, Osteomyelitis, Maculopapul... |
ORPHA:781 |
Immunodeficiency 23 |
|
Bronchiectasis, Allergic rhinitis, Asthma, Eczema, Membranoproliferative glomerulonephritis, Incr... |
OMIM:615816 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatocellular carcinoma, Neoplasm of the skin, Glomerulonephritis, Gastritis, Bone marrow hypoce... |
ORPHA:3261 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Tubulointerstitial nephritis, Osteomyelitis, Recurrent respiratory infections, Crusting erythemat... |
ORPHA:37042 |
Neonatal Alloimmune Neutropenia |
|
Pneumonia |
ORPHA:464370 |
Orofaciodigital Syndrome Viii |
|
Hamartoma, Recurrent aspiration pneumonia |
OMIM:300484 |
Melioidosis |
|
Septic arthritis, Respiratory tract infection, Prostatitis, Hepatitis, Lung abscess, Cutaneous ab... |
ORPHA:31202 |
Meconium Aspiration Syndrome |
|
Pulmonary arterial hypertension, Aspiration pneumonia, Pneumothorax, Hypoxemia, Respiratory distr... |
ORPHA:70588 |
Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatic pseudocyst, Pancreatic calcification, Pancreatitis |
OMIM:167800 |
Acute Interstitial Pneumonia |
|
Nodular pattern on pulmonary HRCT, Bronchiectasis, Subpleural honeycombing, Peribronchovascular i... |
ORPHA:79126 |
Immunodeficiency 82 With Systemic Inflammation |
|
Bronchitis, Crohn's disease, Osteomyelitis, Decreased circulating total IgM, Bronchiectasis, Decr... |
OMIM:619381 |
Thymic Aplasia |
|
Chronic oral candidiasis, Decreased lymphocyte proliferation in response to mitogen, Thyroiditis,... |
ORPHA:83471 |
Ciliary Dyskinesia, Primary, 2 |
|
Bronchiectasis, Immotile cilia, Respiratory distress, Sinusitis, Otitis media, Recurrent respirat... |
OMIM:606763 |
Slc35A1-Cdg |
|
Pulmonary hemorrhage, Pneumonia, Hypoxemia, Respiratory distress |
ORPHA:238459 |
Bronchogenic Cyst |
|
Abnormal pleura morphology, Pneumonia, Dyspnea, Cough, Bronchogenic cyst, Pulmonary cyst, Atelect... |
ORPHA:2357 |
African Iron Overload |
|
Hepatic fibrosis, Hepatitis, Hepatocellular carcinoma, Hepatic bridging fibrosis, Hepatic steatos... |
ORPHA:139507 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pulmonary hemorrhage, Panhypogammaglobulinemia, Recurrent aspiration pneumonia, Chronic mucocutan... |
ORPHA:79124 |
Mohr-Tranebjaerg Syndrome |
|
Agammaglobulinemia, Aspiration pneumonia |
ORPHA:52368 |
Congenital Tracheomalacia |
|
Respiratory insufficiency, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hypoplasia, ... |
ORPHA:95430 |
Ataxia-Telangiectasia |
|
Lymphoma, Bronchiectasis, Decreased circulating IgG2 level, Recurrent bronchitis, Acute lymphobla... |
OMIM:208900 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Bronchiectasis, Increased circulating interleukin 8 concentration, Recurrent pneumonia, Colitis, ... |
OMIM:301220 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Intraalveolar phosph... |
ORPHA:217563 |
Lymphoid Interstitial Pneumonia |
|
Respiratory tract infection, Subpleural interstitial thickening, Bronchiectasis, Rheumatoid arthr... |
ORPHA:79128 |
Wiskott-Aldrich Syndrome |
|
Decreased circulating total IgM, Reduced natural killer cell activity, Recurrent lower respirator... |
OMIM:301000 |
Sarcoidosis, Susceptibility To, 1 |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Bronchiectasis, Irid... |
OMIM:181000 |
Brucellosis |
|
Sacroiliac arthritis, Septic arthritis, Hip osteoarthritis, Pericarditis, Glomerulonephritis, Ple... |
ORPHA:1304 |
Bacterial Toxic-Shock Syndrome |
|
Septic arthritis, Myocarditis, Respiratory tract infection, Osteomyelitis, Hepatitis, Skin rash, ... |
ORPHA:36234 |
Timothy Syndrome |
|
Bronchitis, Pneumonia |
OMIM:601005 |
Postinfectious Vasculitis |
|
Bacterial endocarditis, Inflammatory abnormality of the skin, Increased circulating antibody leve... |
ORPHA:48435 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Decreased circulating total IgM, Decreased lymphocyte proliferation in response to mitogen, Decre... |
ORPHA:221139 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A... |
ORPHA:103918 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Decreased T cell activation, Perianal abscess, Eosinophilic infiltration of the esophagus, Pancol... |
OMIM:618213 |
Bronchial Neuroendocrine Tumor |
|
Abnormal pulmonary interstitial morphology, Asthma, Bronchospasm, Dyspnea, Pulmonary carcinoid tu... |
ORPHA:97287 |
Insulin-Resistance Syndrome Type B |
|
Lymphoma, Decreased circulating complement factor B concentration, Skin rash, Multiple myeloma, N... |
ORPHA:2298 |
Coccidioidomycosis |
|
Osteomyelitis, Pleural empyema, Folliculitis, Erythema nodosum, Skin rash, Arthritis, Morbillifor... |
ORPHA:228123 |
Nocardiosis |
|
Pneumothorax, Scleritis, Productive cough, Pericarditis, Pleural effusion, Pneumonia, Nonproducti... |
ORPHA:31204 |
Bloom Syndrome |
|
Lymphoma, Malar rash, Decreased circulating total IgM, Bronchiectasis, Squamous cell carcinoma, R... |
OMIM:210900 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Respiratory insufficiency, Apnea, Aspiration pneumonia, Bronchiectasis |
OMIM:618253 |
Graft Versus Host Disease |
|
Maculopapular exanthema, Inflammatory abnormality of the skin, Arthritis, Inflammatory abnormalit... |
ORPHA:39812 |
Omenn Syndrome |
|
Lymphoma, Thyroiditis, Pneumonia, Erythroderma |
ORPHA:39041 |
Infection-Related Hemolytic Uremic Syndrome |
|
Septic arthritis, Myocarditis, Respiratory tract infection, Increased circulating interleukin 6 c... |
ORPHA:544482 |
Igg4-Related Kidney Disease |
|
Increased circulating IgG4 level, Prostatitis, Sclerosing cholangitis, Pericarditis, Lymphadeniti... |
ORPHA:449395 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia |
OMIM:608033 |
Microsporidiosis |
|
Bronchitis, Lymphadenitis, Endocarditis, Rhinitis, Osteomyelitis, Myocarditis, Prostatitis, Kerat... |
ORPHA:2552 |
Aregenerative Anemia |
|
Dyspnea, Abnormality of interleukin secretion, Bone marrow hypocellularity |
ORPHA:101096 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Tubulointerstitial nephritis, Hepatitis, Skin rash, Thyroiditis, Interstitial pneumonitis, Pustul... |
ORPHA:139402 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Aspiration pneumonia, Episodic tachypnea |
ORPHA:79264 |
X-Linked Lymphoproliferative Disease |
|
Myocarditis, Pulmonary granulomatosis, Burkitt lymphoma, Decreased circulating total IgM, Fulmina... |
ORPHA:2442 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Fibroma, Aspiration pneumonia, Tracheobronchial leiomyomatosis, Diffuse leiomyomatosis, Uterine n... |
ORPHA:1018 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Perianal abscess, Bronchiectasis, Impaired neutrophil chemotaxis, Glomeru... |
ORPHA:2968 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Restrictive ventilatory defect, Pneumonia |
OMIM:253700 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Pneumonia, Neoplasm, Chronic otitis media |
ORPHA:169090 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Bronchiectasis, Decreased circulating antibody level, Thyroiditis, Recurrent bronchitis, Recurren... |
ORPHA:293978 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Respiratory failure, Pneumonia, Abnormal respiratory system physiology, Recurrent respiratory inf... |
ORPHA:98905 |
Cryptococcosis |
|
Osteomyelitis, Nodular pattern on pulmonary HRCT, Prostatitis, Lymphoid leukemia, Respiratory dis... |
ORPHA:1546 |
Cleft Velum |
|
Aspiration pneumonia, Recurrent otitis media |
ORPHA:99772 |
Roifman-Chitayat Syndrome |
|
Arthritis, Pneumonia |
OMIM:613328 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Increased circulating antibody level, Skin rash, Arthritis, Hepatitis, Chilbl... |
OMIM:615846 |
Zygomycosis |
|
Pneumothorax, Fasciitis, Pericarditis, Pleural effusion, Gastritis, Hematological neoplasm, Colit... |
ORPHA:73263 |
Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia |
ORPHA:1867 |
Mucoepithelial Dysplasia, Hereditary |
|
Keratoconjunctivitis, Fibrocystic lung disease, Chronic mucocutaneous candidiasis, Recurrent pneu... |
OMIM:158310 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Central sleep apnea, Aspiration pneumonia, Pancreatitis |
ORPHA:431361 |
Spondyloenchondrodysplasia |
|
Juvenile rheumatoid arthritis, Hepatitis, Arthritis, Skin rash, Enchondroma, Pneumonia |
ORPHA:1855 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Hypoventilation, Aspiration pneumonia, Respiratory distress, Apnea, Recurrent pneumonia |
ORPHA:314655 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Aspiration pneumonia, Cough |
ORPHA:216866 |
Hemorrhagic Fever-Renal Syndrome |
|
Tubulointerstitial nephritis, Increased circulating interleukin 6 concentration, Acute tubulointe... |
ORPHA:340 |
Orofaciodigital Syndrome Ix |
|
Hamartoma, Recurrent aspiration pneumonia |
OMIM:258865 |
Listeriosis |
|
Endocarditis, Septic arthritis, Myocarditis, Conjunctivitis, Osteomyelitis, Infectious encephalit... |
ORPHA:533 |
Hennekam-Beemer Syndrome |
|
Mastocytosis, Respiratory insufficiency, Pneumonia |
ORPHA:2135 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Inflammatory abnormality of the skin, Episodic tachypnea, Respiratory distress, Pneumonia, Tachypnea |
ORPHA:26793 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Juvenile rheumatoid arthritis, Rheumatoid arthritis, Recurrent sinusitis, Recurrent otitis media,... |
OMIM:607944 |
Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Osteomyelitis, Myelodysplasia, Impaired neutrophil chemotaxis, Skin rash,... |
ORPHA:811 |
Hereditary Orotic Aciduria |
|
Recurrent respiratory infections, Impaired T cell function |
ORPHA:30 |
Infantile Neuroaxonal Dystrophy |
|
Apneic episodes in infancy, Aspiration pneumonia |
ORPHA:35069 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Squamous cell carcinoma of the skin, Myelodysplasia, Interstitial pneumonitis, Dyspnea, Bone marr... |
OMIM:127550 |
Shigellosis |
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Conjunctivitis, Myocarditis, Arthritis, Ulcerative colitis, Uveitis, Peritonitis, Pneumonia, Acut... |
ORPHA:810 |
Proximal Spinal Muscular Atrophy |
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Respiratory failure, Hypoventilation, Recurrent aspiration pneumonia, Recurrent infections due to... |
ORPHA:70 |
Alpha-Mannosidosis, Adult Form |
|
Pneumonia |
ORPHA:309288 |
Gm1 Gangliosidosis |
|
Infectious encephalitis, Recurrent respiratory infections, Aspiration pneumonia |
ORPHA:354 |
Mercury Poisoning |
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Respiratory failure, Interstitial pneumonitis, Dyspnea, Respiratory distress |
ORPHA:330021 |
Geleophysic Dysplasia 3 |
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Respiratory failure, Sleep apnea, Pneumonia, Dyspnea |
OMIM:617809 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Interstitial pneumonitis |
ORPHA:231154 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Breast carcinoma, Pneumonia, Endometrial carcinoma |
ORPHA:90790 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Bone marrow hypocellularity |
OMIM:603467 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Skin rash, Pneumonia |
ORPHA:247691 |
Arnold-Chiari Malformation Type Ii |
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Apnea, Pneumonia, Inspiratory stridor |
ORPHA:1136 |
Omenn Syndrome |
|
Pneumonia, Erythroderma |
OMIM:603554 |
X-Linked Dystonia-Parkinsonism |
|
Aspiration pneumonia |
ORPHA:53351 |
Atrial Septal Defect, Coronary Sinus Type |
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Pulmonary arterial hypertension, Exertional dyspnea, Increased pulmonary vascular resistance, Ano... |
ORPHA:99104 |
Chops Syndrome |
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Aspiration pneumonia, Anomalous pulmonary venous return, Sleep apnea, Tracheomalacia, Chronic lun... |
OMIM:616368 |
Mirage Syndrome |
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Aspiration pneumonia, Myelodysplasia |
OMIM:617053 |
Atrial Septal Defect, Ostium Secundum Type |
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Pulmonary arterial hypertension, Exertional dyspnea, Breathing dysregulation, Increased pulmonary... |
ORPHA:99103 |
Lissencephaly Due To Lis1 Mutation |
|
Aspiration pneumonia |
ORPHA:95232 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Aspiration pneumonia |
OMIM:619167 |
Marshall-Smith Syndrome |
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Pulmonary arterial hypertension, Aspiration pneumonia, Recurrent aspiration pneumonia, Cholesteat... |
OMIM:602535 |
Mucopolysaccharidosis, Type Vi |
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Pulmonary arterial hypertension, Restrictive ventilatory defect, Recurrent upper respiratory trac... |
OMIM:253200 |
Gaucher Disease, Type Ii |
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Recurrent aspiration pneumonia, Apnea, Cough, Stridor, Bronchiolitis |
OMIM:230900 |
Amoebiasis Due To Free-Living Amoebae |
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Respiratory tract infection, Pustule, Sinusitis, Infectious encephalitis, Pneumonia |
ORPHA:68 |
Bickerstaff Brainstem Encephalitis |
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Respiratory tract infection, Hypercapnia, Dyspnea, Respiratory failure, Respiratory failure requi... |
ORPHA:79138 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Pneumothorax, Pyoderma, Squamous cell carcinoma, Gastrointestinal inflammation, Respiratory distr... |
ORPHA:79404 |
Progeroid Short Stature With Pigmented Nevi |
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Impaired T cell function, Allergic conjunctivitis, Numerous nevi, Allergic rhinitis |
OMIM:176690 |
Cholera |
|
Aspiration pneumonia, Hyperventilation, Tachypnea |
ORPHA:173 |
Mucopolysaccharidosis Type 3 |
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Respiratory tract infection, Aspiration pneumonia, Recurrent sinopulmonary infections, Upper airw... |
ORPHA:581 |
Cornelia De Lange Syndrome 1 |
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Pneumonia, Otitis media |
OMIM:122470 |
Alpha-Mannosidosis, Infantile Form |
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Pneumonia, Otitis media |
ORPHA:309282 |
Orotic Aciduria |
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Impaired T cell function |
OMIM:258900 |
Igg4-Related Submandibular Gland Disease |
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Retroperitoneal fibrosis, Enlarged lacrimal glands, Cholangitis, Abnormality of the submandibular... |
ORPHA:449432 |
Congenital Fiber-Type Disproportion Myopathy |
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Aspiration pneumonia, Weakness of muscles of respiration, Hypoxemia, Hypercapnia, Intercostal mus... |
ORPHA:2020 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Conjunctivitis, Rhinitis, Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis s... |
ORPHA:95455 |
Gm1 Gangliosidosis Type 1 |
|
Aspiration pneumonia |
ORPHA:79255 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
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Hypoventilation, Aspiration pneumonia, Apnea, Restrictive ventilatory defect, Hypopnea |
OMIM:619482 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Pilomatrixoma, Recurrent respiratory infections, Asthma, Spinal cord tumor, Meningioma, Neoplasm,... |
ORPHA:353281 |
Tay-Sachs Disease |
|
Aspiration pneumonia |
ORPHA:845 |
Degcags Syndrome |
|
Pulmonary arterial hypertension, Rhinitis, Asthma, Tracheomalacia, Chronic lung disease, Pneumonia |
OMIM:619488 |
Coffin-Siris Syndrome |
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Recurrent upper respiratory tract infections, Aspiration pneumonia, Papillary thyroid carcinoma, ... |
ORPHA:1465 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
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Aspiration pneumonia, Seborrheic dermatitis |
OMIM:301072 |
Plague |
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Lymphadenitis, Endocarditis, Enterocolitis, Erythema nodosum, Skin rash, Inflammatory abnormality... |
ORPHA:707 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Aspiration pneumonia |
ORPHA:99027 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Psoriasiform dermatitis, Abnormality of T cell physiology |
ORPHA:2237 |
Neuroleptic Malignant Syndrome |
|
Pulmonary embolism, Aspiration pneumonia |
ORPHA:94093 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Pulmonary arterial hypertension, Aspiration pneumonia, Asthma, Sleep apnea, Tracheomalacia, Chron... |
ORPHA:444077 |
Liver Disease, Severe Congenital |
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Status asthmaticus, Pulmonary edema, Eczema, Recurrent otitis media, Cholesteatoma, Cough, Chroni... |
OMIM:619991 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Pilomatrixoma, Recurrent respiratory infections, Aspiration, Asthma, Meningioma, Otitis media, Pn... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Pilomatrixoma, Recurrent respiratory infections, Aspiration, Asthma, Meningioma, Otitis media, Pn... |
ORPHA:353277 |
Wiedemann-Rautenstrauch Syndrome |
|
Pneumonia, Recurrent respiratory infections |
OMIM:264090 |
Semilobar Holoprosencephaly |
|
Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia, Central apnea |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia, Central apnea |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia, Central apnea |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia, Central apnea |
ORPHA:93924 |
Niemann-Pick Disease Type C |
|
Respiratory insufficiency, Respiratory failure, Aspiration pneumonia, Abnormal lung morphology |
ORPHA:646 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Hypoventilation, Aspiration pneumonia, Central sleep apnea, Breathing dysregulation, Apnea, Obstr... |
ORPHA:438213 |
Doors Syndrome |
|
Capillary hemangioma, Aspiration pneumonia, Respiratory distress |
ORPHA:79500 |
Yunis-Varon Syndrome |
|
Pulmonary arterial hypertension, Aspiration pneumonia |
OMIM:216340 |
Pmm2-Cdg |
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Impaired neutrophil chemotaxis, Aspiration pneumonia, Pericarditis, Respiratory distress |
ORPHA:79318 |