Acute Lung Injury |
|
Respiratory distress, Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneu... |
ORPHA:178320 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Pneumocystis jirovecii pneumonia, Nonproducti... |
ORPHA:723 |
Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Sepsis, Hypoxemia, Abnorma... |
ORPHA:70578 |
Immunodeficiency 66 |
|
Recurrent skin infections, Pustule, Sepsis, Defective T cell proliferation, Otitis externa, Menin... |
OMIM:618847 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... |
OMIM:613953 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... |
ORPHA:1303 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Decreased circulating IgE, Decreased circulating IgG level, Meningitis, Impaired memory B... |
OMIM:308230 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Sepsis, Hypoxemia, Respiratory failure, Pulmonary ... |
ORPHA:70587 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Sepsis, S... |
ORPHA:36238 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating ... |
OMIM:613500 |
Selective Igm Deficiency |
|
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... |
ORPHA:331235 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... |
OMIM:613493 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... |
OMIM:308220 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent herpes, Cholangitis, Sepsis, Pulmonary tuberculosis, Cholecystitis, ... |
ORPHA:183675 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... |
OMIM:613502 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Brain abscess, Cyanosis, Pneumonia, Dyspnea, Inspiratory crackl... |
OMIM:610910 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent skin infections, Recurrent meningococcal disease, Recurrent Klebsiell... |
OMIM:614372 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Recurrent skin infections, Partial absence of ... |
OMIM:301082 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Chronic oral candidiasis, Recurrent bacterial skin infections, Recurrent herpes, Skin rash, Pneum... |
ORPHA:276 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypn... |
ORPHA:2257 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... |
OMIM:613495 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Crackles, Dyspnea, Nonproductive cough, Wheezing, Asthma, Increased circulating IgE level, Atopic... |
ORPHA:2902 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Short stature... |
ORPHA:229717 |
Scedosporiosis |
|
Unusual skin infection, Bronchial breath sound, Sinusitis, Arthralgia/arthritis, Pneumonia, Peric... |
ORPHA:449280 |
Avian Influenza |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... |
ORPHA:454836 |
Reticular Dysgenesis |
|
Recurrent respiratory infections, Skin rash, Sepsis, Dehydration, Decreased circulating antibody ... |
ORPHA:33355 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections |
OMIM:242870 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Sepsis, Recurrent candida infections, Chronic otitis media, Opportunistic infection, M... |
ORPHA:83471 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Short stature, Recurrent bacterial infe... |
OMIM:616022 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchiectasis, Inspirator... |
ORPHA:79127 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... |
OMIM:612692 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... |
ORPHA:264675 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent skin infections, Recurrent viral infections, Recurrent pneumonia, Recurrent upper respi... |
OMIM:614868 |
Lymphoproliferative Syndrome 2 |
|
Severe varicella zoster infection, Recurrent pneumonia, Sepsis, EBV encephalitis, Uveitis, Decrea... |
OMIM:615122 |
Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive |
|
Growth delay, Recurrent upper respiratory tract infections, Sepsis, Hearing impairment |
OMIM:619599 |
Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Sepsis, Decreased circulating antibody level, Conjunctivitis,... |
OMIM:616740 |
Panbronchiolitis, Diffuse |
|
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough |
OMIM:604809 |
High Altitude Pulmonary Edema |
|
Orthopnea, Cyanosis, Crackles, Dyspnea, Vertigo, Tachypnea, Hypoxemia, Cough, Pulmonary edema |
ORPHA:330012 |
C1Q Deficiency 2 |
|
Chilblains, Discoid lupus rash, Bronchiectasis, Sepsis, Arthritis, Recurrent otitis media, Recurr... |
OMIM:620321 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Psoriasiform dermatitis, Pneumonia, Eczema, Recurrent upper respiratory tract... |
ORPHA:436159 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Co... |
OMIM:240500 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent... |
OMIM:243700 |
Netherton Syndrome |
|
Hypernatremic dehydration, Recurrent respiratory infections, Recurrent skin infections, Allergic ... |
OMIM:256500 |
Asbestos Intoxication |
|
Reduced vital capacity, Cyanosis, Edema, Reduced forced vital capacity, Nonproductive cough, Dysp... |
ORPHA:2302 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... |
OMIM:605258 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... |
ORPHA:1302 |
Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... |
OMIM:193670 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Decreased circulating t... |
OMIM:607594 |
Agammaglobulinemia, X-Linked |
|
Sepsis, Decreased circulating IgE, Conjunctivitis, Decreased circulating IgG level, Infectious en... |
OMIM:300755 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Sepsis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis... |
OMIM:614700 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Recurrent upper respiratory tract infections... |
OMIM:616100 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ... |
OMIM:608106 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... |
ORPHA:70588 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Short stature, Osteomyelitis, Skin rash, Sensor... |
ORPHA:47 |
Neonatal Alloimmune Neutropenia |
|
Severe infection, Sepsis, Meningitis, Pneumonia |
ORPHA:464370 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Recurrent respiratory infections, Partial absence of specific antibody response to Haemophilus in... |
OMIM:618986 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Cyanosis, Red... |
OMIM:610913 |
Sarcoidosis, Susceptibility To, 2 |
|
Erythema nodosum, Dyspnea, Pneumothorax, Bronchiectasis, Uveitis, Hypoxemia, Restrictive ventilat... |
OMIM:612387 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... |
ORPHA:91359 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Impaired Ig class switch recombination, Recurrent upper respiratory tract infectio... |
OMIM:608184 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent bacterial infections, Absent isohemagglutinin level, Recurrent otit... |
OMIM:613501 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Genital edema, Eczema, Abnormal immunoglobulin level, Recurrent mycobacterial infections, Invasiv... |
ORPHA:98813 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, Ta... |
ORPHA:542323 |
Bullous Impetigo |
|
Pustule, Recurrent bacterial skin infections, Sepsis, Septic arthritis |
ORPHA:36237 |
Specific Granule Deficiency 2 |
|
Abnormal pinna morphology, Posteriorly rotated ears, Recurrent pneumonia, Sepsis, Recurrent bacte... |
OMIM:617475 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
Pgm3-Cdg |
|
Recurrent viral infections, Sepsis, Increased circulating IgG level, Chronic otitis media, Conduc... |
ORPHA:443811 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... |
ORPHA:319552 |
Acute Interstitial Pneumonia |
|
Cyanosis, Crackles, Pericardial effusion, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis... |
ORPHA:79126 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Reticular Dysgenesis |
|
Sepsis, Impaired T cell function, Lack of T cell function |
OMIM:267500 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Short stature, Pneumonia, Enteroviral dermatomyosi... |
OMIM:307200 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Decreased circulating IgG3 level, Respira... |
OMIM:619773 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... |
ORPHA:275 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent bacterial infections, Bronchiectasis, Recurrent viral... |
OMIM:608957 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis, Recurrent bronchiti... |
OMIM:300455 |
Felty Syndrome |
|
Episcleritis, Recurrent respiratory infections, Pericarditis, Sinusitis, Recurrent urinary tract ... |
ORPHA:47612 |
Lymphoid Interstitial Pneumonia |
|
Skin rash, Eczema, Crackles, Dyspnea, Wheezing, Severe viral infection, Bronchiectasis, Hypoxemia... |
ORPHA:79128 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
Lassa Fever |
|
Facial edema, Dyspnea, Sepsis, Increased circulating IgM level, Conjunctivitis, Cough, Hearing im... |
ORPHA:99824 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bact... |
ORPHA:169090 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Sporadic Creutzfeldt-Jakob Disease |
|
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia, Sepsis, Recur... |
ORPHA:204 |
Tempi Syndrome |
|
Hypoxemia, Transudative pleural effusion, Increased circulating IgG level, Ascites |
ORPHA:284227 |
Pulmonary Arteriovenous Malformation |
|
Brain abscess, Cyanosis, Epistaxis, Dyspnea, Hypoxemia, Pleural empyema, Recurrent abscess format... |
ORPHA:2038 |
Ventilator-Induced Diaphragmatic Dysfunction |
|
Hypercapnia, Respiratory insufficiency due to muscle weakness, Reduced forced vital capacity, Sev... |
ORPHA:505395 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Hypoxemia |
ORPHA:238459 |
Deafness, Conductive, With Malformed External Ear |
|
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... |
OMIM:221300 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Recurrent he... |
ORPHA:572 |
Immunodeficiency 20 |
|
Recurrent respiratory infections, Recurrent oral herpes, Reduced natural killer cell activity, Se... |
OMIM:615707 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Dyspnea, Wheezing, Abnormal respiratory system physiology, Bronchiect... |
ORPHA:60033 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Membranoproliferative glomerulonephritis, Re... |
OMIM:613779 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Acquired Methemoglobinemia |
|
Respiratory distress, Cyanosis, Dyspnea, Vertigo, Hypoxemia |
ORPHA:464453 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Sepsis, Growth delay, Pancreatitis |
ORPHA:289916 |
Immunodeficiency 12 |
|
Short stature, Skin rash, Recurrent viral infections, Bronchiectasis, Cheilitis, Growth delay, Re... |
OMIM:615468 |
Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Hypoxemia, Restricti... |
ORPHA:90060 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Pneumonia, Increased circulating IgE level, Recurrent upper respiratory tract infections, Sepsis,... |
OMIM:602450 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Necrotizing enterocolitis, Recurrent abscess formatio... |
OMIM:613860 |
Complement Factor B Deficiency |
|
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Recurrent upper r... |
ORPHA:51636 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Perianal abscess, Peritonitis, Recurrent tonsillitis, Sever... |
ORPHA:2686 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, C... |
OMIM:610921 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pulmonary arterial hypertension, Short stature, Sepsis |
OMIM:619059 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Hypoxemia |
ORPHA:2140 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Recurrent urinary tract infections, Chronic lymphocytic meningitis, Cholangitis,... |
OMIM:209920 |
Placental Insufficiency |
|
Hypoxemia, Intrauterine growth retardation, Proportionate short stature |
ORPHA:439167 |
Alg1-Cdg |
|
Respiratory failure, Sepsis, Recurrent infections |
ORPHA:79327 |
Lamellar Ichthyosis |
|
Recurrent respiratory infections, Short stature, Sepsis, Dehydration, Abnormal helix morphology, ... |
ORPHA:313 |
Achondroplasia |
|
Rhizomelia, Disproportionate short stature, Hypoxemia, Restrictive ventilatory defect, Functional... |
ORPHA:15 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Myositis, Edema, Severe varicella zoster infection, T... |
ORPHA:36234 |
Ossicular Malformations, Familial |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
Sickle Cell Anemia |
|
Hypoxemia, Osteomyelitis, Recurrent infections |
ORPHA:232 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Posteriorly rotated ears, Hypoxemia... |
OMIM:209880 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Recurrent bacterial infections |
OMIM:607624 |
Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Pulmonary edema, Pericardial effusion, Dyspnea, Hemothorax, Pedal edema, Hypoxemia, Ele... |
ORPHA:199241 |
Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... |
OMIM:300636 |
Chronic Granulomatous Disease |
|
Recurrent respiratory infections, Sinusitis, Eczema, Meningitis, Chronic pulmonary obstruction, S... |
ORPHA:379 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Maculopapular exanthema, Dyspnea, Hepatitis, Sepsis, Increased circulating an... |
ORPHA:319218 |
Congenital Enterovirus Infection |
|
Respiratory distress, Skin rash, Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis... |
ORPHA:292 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie... |
OMIM:601495 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Sepsis, Recurrent skin infections, Epistaxis |
OMIM:612840 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ... |
OMIM:128980 |
Immunodeficiency 36 With Lymphoproliferation |
|
Short stature, Persistent CMV viremia, Recurrent upper respiratory tract infections, Bronchiectas... |
OMIM:616005 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Edema of the dorsum of feet, Edema of the dorsum of hands, Sensorineural he... |
ORPHA:544503 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
Legionnaires Disease |
|
Pericarditis, Myocarditis, Recurrent pharyngitis, Hepatitis, Respiratory insufficiency, Endocardi... |
ORPHA:549 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Short stature, Absent tragus, Overfolded helix, Abnormal antihelix morphology, Large earlobe, Mic... |
ORPHA:79113 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... |
ORPHA:2968 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Skin rash, Recurrent pneumonia, Increased circulating IgE lev... |
OMIM:147060 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neonatal sepsis, Increased circulating IgA level, Recurrent viral infections, Increased circulati... |
ORPHA:169154 |
Immunodeficiency 59 And Hypoglycemia |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:233600 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Sepsis, Tubulointerstitial nephritis, Colitis, Meningitis, Psoria... |
ORPHA:37042 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Glomerulonephritis, Recurrent bacterial infections, Chronic dec... |
OMIM:613496 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO |
ORPHA:747 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Recurrent respiratory infections, Short stature, Hearing impairment, Patent ductus arteriosus, Hy... |
ORPHA:2282 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Nocardiosis |
|
Respiratory distress, Nonproductive cough, Lymphadenitis, Sepsis, Conjunctivitis, Emphysema, Infe... |
ORPHA:31204 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Skin rash, Pericardial effusion, Dyspnea, Angioedema, Sensorineural hearing impairm... |
ORPHA:36412 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Heme Oxygenase 1 Deficiency |
|
Increased circulating interleukin 6 concentration, Epistaxis, Sepsis, Growth delay, Nephritis |
OMIM:614034 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, Polyhydramnios, Decreased circulating antibody level |
OMIM:616873 |
Cernunnos-Xlf Deficiency |
|
Growth delay, Recurrent bacterial infections, Recurrent viral infections, Decreased circulating a... |
ORPHA:169079 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormality of T cell physiology, Pericardial effusion, Dyspnea, Iridocyclitis, Bronchiectasis, U... |
OMIM:181000 |
Meningococcal Meningitis |
|
Neonatal respiratory distress, Skin rash, Sepsis, Infectious encephalitis, Hearing impairment |
ORPHA:33475 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent urinary tract infections, Sinusitis, Pneumonia, Impaired T cell function, Recurrent vir... |
OMIM:613179 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Perianal a... |
OMIM:612541 |
Hirschsprung Disease |
|
Sensorineural hearing impairment, Short stature, Sepsis |
ORPHA:388 |
Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum... |
ORPHA:60025 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Psoriasiform dermatitis, Recurrent viral infections, Recurrent pharyngitis, Recurrent pneumonia, ... |
ORPHA:293978 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Short stature, Eczema, Postnatal growth retardation, Increased circulating IgE level, Thyroiditis... |
OMIM:618985 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Cyanosis, Pericardial effusion, Tachypnea, Hy... |
ORPHA:555874 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Interstitial pneumonitis, Sepsis |
ORPHA:231154 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, D... |
ORPHA:90646 |
Omenn Syndrome |
|
Pneumonia, Edema, Sepsis, Thyroiditis, Erythroderma |
ORPHA:39041 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial infections |
OMIM:245480 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Sensorineural hearing impairment, Agammaglobulinemia, Recurrent bacterial ... |
OMIM:619693 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pa... |
OMIM:617303 |
Immunodeficiency 23 |
|
Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Allergic rhinitis, Ec... |
OMIM:615816 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea, Sepsis |
ORPHA:247257 |
Alg12-Cdg |
|
Recurrent respiratory infections, Abnormal pinna morphology, Partial absence of specific antibody... |
ORPHA:79324 |
Galactose Mutarotase Deficiency |
|
Sepsis |
ORPHA:570422 |
Melioidosis |
|
Foot osteomyelitis, Brain abscess, Unusual skin infection, Pneumonia, Osteoarthritis, Hepatitis, ... |
ORPHA:31202 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Conductive hearing impairment, Recurrent bacterial infections, Sensorineural hearing impairment |
OMIM:610738 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis, Pedal edema |
ORPHA:439 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Patent ductus arteriosus, Tachypnea, Cyanosis |
ORPHA:860 |
Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Dyspnea, Peritonitis, Meningitis, Abnormality of ... |
ORPHA:1546 |
Wiskott-Aldrich Syndrome |
|
Recurrent herpes, Epistaxis, Eczema, Increased circulating IgA level, Reduced natural killer cell... |
OMIM:301000 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hypoxemia, Sensorineural hearing impairment, Mild postnatal growth retardation, Delayed puberty |
ORPHA:456312 |
Immunodeficiency 84 |
|
Perianal abscess, Recurrent bacterial infections, Persistent EBV viremia |
OMIM:619437 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Skin rash, Neutrophilic infiltration of the skin, Increased circulating IgA level, Recurrent vira... |
OMIM:618048 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Short stature, Patent ductus arteriosus, Sepsis, Recurrent ba... |
OMIM:617053 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Recurrent infections, Increased circulating IgM level, Recurrent b... |
ORPHA:2688 |
Congenital Myopathy 13 |
|
Short stature, Hypercapnia, Hypoxemia, Restrictive ventilatory defect, Low-set ears, Conductive h... |
OMIM:255995 |
Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Hypercapnia, Polyhydramnios, Respiratory insufficiency due to m... |
ORPHA:2020 |
Immunodeficiency 68 |
|
Recurrent skin infections, Lymphadenitis, Sepsis, Recurrent meningitis, Septic arthritis |
OMIM:612260 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Skin rash, Pneumonia, Recurrent viral infections, Lymphadeni... |
ORPHA:911 |
Pericardial And Diaphragmatic Defect |
|
Hypoxemia, Neonatal respiratory distress, Patent ductus arteriosus |
ORPHA:2847 |
Acquired Purpura Fulminans |
|
Acrocyanosis, Skin rash, Sepsis |
ORPHA:49566 |
Listeriosis |
|
Respiratory distress, Sepsis, Conjunctivitis, Cholecystitis, Meningitis, Infectious encephalitis,... |
ORPHA:533 |
Sepsis In Premature Infants |
|
Neonatal sepsis, Increased circulating interleukin 6 concentration, Cyanosis, Disseminated viral ... |
ORPHA:90051 |
Sickle Cell Disease |
|
Hypoxemia, Recurrent bacterial infections |
OMIM:603903 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:306400 |
Classic Galactosemia |
|
Ascites, Sepsis, Delayed puberty |
ORPHA:79239 |
Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... |
ORPHA:477 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... |
OMIM:610984 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia, Recurrent ear infection... |
ORPHA:486 |
Rh Deficiency Syndrome |
|
Hypoxemia, Intrauterine growth retardation, Tachypnea, Oligohydramnios |
ORPHA:71275 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Neonatal sepsis, Sensorineural hearing impairment, Recurrent infections |
OMIM:614739 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Sepsis, Dehydration, Nephritis, Infectious encep... |
ORPHA:2552 |
Shwachman-Diamond Syndrome |
|
Sinusitis, Short stature, Pneumonia, Eczema, Skin rash, Osteomyelitis, Recurrent viral infections... |
ORPHA:811 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pn... |
OMIM:102700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233710 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Lymp... |
OMIM:300291 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Skin rash, Recurrent viral infections, Lymphadenitis, Decreased circulating antibody level, Decre... |
ORPHA:331206 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Recurrent respiratory infections, Patent ductus arteriosus, Sepsis, Stridor... |
ORPHA:505248 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... |
OMIM:615978 |
Necrotizing Enterocolitis |
|
Neonatal sepsis, Apnea, Edema, Peritonitis, Ascites |
ORPHA:391673 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Hearing impairment, Productive... |
ORPHA:244 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233690 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections, Increased circulating antibody level |
OMIM:202700 |
Cardiogenic Shock |
|
Increased pulmonary capillary wedge pressure, Crackles, Dyspnea, Vertigo, Hypoxemia |
ORPHA:97292 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Hypoxemia, Intrauterine growth retardation, Abnormal pinna morphology, Low-set ears |
ORPHA:556955 |
Branchiogenic Deafness Syndrome |
|
Mixed hearing impairment, Short stature, Abnormal pinna morphology, Abnormality of the middle ear... |
ORPHA:50815 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Chronic oral candidiasis, Neonatal respiratory distress, Psoriasiform dermatitis, Recurrent urina... |
ORPHA:221139 |
Wiskott-Aldrich Syndrome |
|
Recurrent respiratory infections, Sinusitis, Epistaxis, Eczema, Keratitis, Dyspnea, Meningitis, C... |
ORPHA:906 |
Atresia Of External Auditory Canal And Conductive Deafness |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... |
OMIM:108760 |
Chronic Bilirubin Encephalopathy |
|
Central apnea, Sensorineural hearing impairment, Neonatal sepsis, Abnormal auditory evoked potent... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Central apnea, Sensorineural hearing impairment, Neonatal sepsis, Abnormal auditory evoked potent... |
ORPHA:529799 |
Posttransplant Acute Limbic Encephalitis |
|
Sepsis |
ORPHA:163921 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Chronic oral candidiasis, Recurrent respiratory infections, Psoriasiform dermatitis, Eczema, Recu... |
OMIM:606367 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Recurrent viral infections, Sepsis, Oligohydramnio... |
OMIM:619573 |
Cog4-Cdg |
|
Growth delay, Recurrent upper respiratory tract infections, Recurrent infection of the gastrointe... |
ORPHA:263501 |
Generalized Pustular Psoriasis |
|
Pustule, Cheilitis, Uveitis, Sepsis, Pedal edema, Arthritis, Palmoplantar pustulosis, Erythroderma |
ORPHA:247353 |
Secondary Short Bowel Syndrome |
|
Growth delay, Sepsis, Enterocolitis, Dehydration |
ORPHA:95427 |
Interstitial Lung And Liver Disease |
|
Hypoxemia, Dyspnea, Respiratory insufficiency, Cough |
OMIM:615486 |
Eisenmenger Syndrome |
|
Respiratory distress, Brain abscess, Generalized edema, Cyanosis, Increased pulmonary vascular re... |
ORPHA:97214 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Sepsis, Skin rash, Pneumonia, Macular edema |
ORPHA:247691 |
Shigellosis |
|
Pneumonia, Myocarditis, Peritonitis, Sepsis, Uveitis, Ulcerative colitis, Dehydration, Arthritis,... |
ORPHA:810 |
Branchiootic Syndrome |
|
Sensorineural hearing impairment, Abnormality of the inner ear, Atresia of the external auditory ... |
ORPHA:52429 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Growth delay, Patent ductus arteriosus, Short stature, Sepsis |
OMIM:614886 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Recurrent urinary tract infections, Recurrent skin infections, Pneumonia, E... |
ORPHA:79404 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Short stature, Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abnormal... |
ORPHA:2549 |
Branchiogenic-Deafness Syndrome |
|
Mixed hearing impairment, Short stature, Abnormality of the middle ear ossicles, Sensorineural he... |
OMIM:609166 |
Desmoid Tumor |
|
Sepsis |
ORPHA:873 |
Immunodeficiency 54 |
|
Recurrent respiratory infections, Short stature, Recurrent viral infections, Postnatal growth ret... |
OMIM:609981 |
Postinfectious Vasculitis |
|
Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal inflammation, B... |
ORPHA:48435 |
Acrocraniofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Short stature, Abnormal pinna morphology, Abnormality of the m... |
ORPHA:949 |
Neonatal Marfan Syndrome |
|
Neonatal respiratory distress, Hypoxemia, Low-set ears, Crumpled ear, Emphysema |
ORPHA:284979 |
Intellectual Developmental Disorder, Autosomal Dominant 2 |
|
Cholesteatoma |
OMIM:614113 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Recurrent respiratory infections, Sepsis, Restrictive ventilatory defect, C... |
ORPHA:537 |
Stevens-Johnson Syndrome |
|
Recurrent respiratory infections, Dyspnea, Sepsis, Restrictive ventilatory defect, Conjunctivitis... |
ORPHA:36426 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Recurrent skin infections, Sepsis, Recurrent infections, Growth delay, Decreased circulating anti... |
ORPHA:79396 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections, Eczema |
OMIM:300299 |
Renal, Genital, And Middle Ear Anomalies |
|
Hearing impairment, Abnormality of the middle ear ossicles |
OMIM:267400 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Myositis, Sepsis, Recurrent infections |
ORPHA:764 |
Hermansky-Pudlak Syndrome 2 |
|
Posteriorly rotated ears, Reduced natural killer cell activity, Impaired ADP-induced platelet agg... |
OMIM:608233 |
Plague |
|
Respiratory distress, Chapped lip, Skin rash, Edema, Erythema nodosum, Lymphadenitis, Meningitis,... |
ORPHA:707 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf... |
OMIM:607676 |
Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease, Generalized seborrheic dermatitis |
OMIM:609536 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Iridocyclitis, Chronic mucocutaneous candidiasis, K... |
OMIM:240300 |
Bor Syndrome |
|
Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of the cochlea, Atr... |
ORPHA:107 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Atresia of the external audi... |
ORPHA:3236 |
Calciphylaxis |
|
Sepsis |
ORPHA:280062 |
Absence Of The Pulmonary Artery |
|
Orthopnea, Recurrent respiratory infections, Cyanosis, Dyspnea, Nonproductive cough, Recurrent pn... |
ORPHA:980 |
Omenn Syndrome |
|
Pneumonia, Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infection... |
OMIM:603554 |
Athabaskan Brainstem Dysgenesis Syndrome |
|
Sensorineural hearing impairment, Central hypoventilation |
OMIM:601536 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Anterior uveitis, Infla... |
ORPHA:95455 |
Neuroleptic Malignant Syndrome |
|
Dehydration, Sepsis, Aspiration pneumonia, Pulmonary embolism |
ORPHA:94093 |
Mucopolysaccharidosis Type 3 |
|
Recurrent sinopulmonary infections, Mixed hearing impairment, Thickened helices, Abnormality of t... |
ORPHA:581 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia, Low-set ... |
ORPHA:314655 |
Late-Onset Isolated Acth Deficiency |
|
Vertigo, Sepsis, Hepatitis, Hashimoto thyroiditis |
ORPHA:199299 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Absent brainstem auditory responses, Generalized edema, Ap... |
ORPHA:79330 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... |
OMIM:116920 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Recurrent skin infections, Short stature, Recurrent pneumonia, Cheilitis, Sepsis |
ORPHA:158668 |
Chédiak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Recurrent respiratory infections, Skin rash, Epistaxis, Recu... |
ORPHA:167 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... |
ORPHA:99103 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
OMIM:211530 |
Cystic Fibrosis |
|
Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Recurrent Burkhold... |
ORPHA:586 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Posteriorly rotated ears, Postnatal growth retardation, Recurrent bacterial infections, Severe in... |
OMIM:241410 |
Vici Syndrome |
|
Decreased circulating IgG level, Recurrent respiratory infections, Recurrent viral infections, Po... |
OMIM:242840 |
Ctcf-Related Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Patent ductus arteriosus, Cupped ear, Sepsis, Recurrent infect... |
ORPHA:363611 |
Mannosidosis, Alpha B, Lysosomal |
|
Sensorineural hearing impairment, Decreased circulating antibody level, Growth delay, Recurrent b... |
OMIM:248500 |
Lateral Meningocele Syndrome |
|
Short stature, Posteriorly rotated ears, Abnormality of the middle ear ossicles, Patent ductus ar... |
OMIM:130720 |
Lateral Meningocele Syndrome |
|
Posteriorly rotated ears, Abnormality of the middle ear ossicles, Sensorineural hearing impairmen... |
ORPHA:2789 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections, Decreased platelet glycoprotein Ib |
OMIM:603585 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Recurrent urinary tract infections, Pneumonia, Eczema, Patent ductus arteriosu... |
OMIM:619991 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Hypoventilation, Sensorineural hearing impairment, Decreased circulating IgA level, Decreased cir... |
OMIM:606056 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Postnatal growth retardation, Neonatal asphyxia, Microtia, Recurrent otitis media, Intrauterine g... |
ORPHA:2728 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Neonatal sepsis, Pneumonia |
ORPHA:90790 |
Chromomycosis |
|
Predominantly lower limb lymphedema, Edema, Lymphedema, Keratitis, Recurrent bacterial infections... |
ORPHA:182 |
Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Recurrent bacterial infect... |
ORPHA:99104 |
Microtia With Meatal Atresia And Conductive Deafness |
|
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment |
OMIM:251800 |
Familial Isolated Restrictive Cardiomyopathy |
|
Orthopnea, Recurrent respiratory infections, Postnatal growth retardation, Dyspnea, Pulmonary ven... |
ORPHA:75249 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Growth delay, Bilateral sensorineural hearing impairment, Sepsis, Profound hearing impairment |
OMIM:619418 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Respiratory failure, Nocturnal hypoventilation, Intrauterine growth retardation |
OMIM:620326 |
Immunodeficiency 21 |
|
Osteomyelitis, Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Rec... |
OMIM:614172 |
Endove Syndrome, Limb-Only Type |
|
Neonatal sepsis |
OMIM:619217 |
Radiation Proctitis |
|
Sepsis, Arteritis |
ORPHA:70475 |
Immunodeficiency 10 |
|
Recurrent bacterial infections, Recurrent infections |
OMIM:612783 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Sepsis, Polyhydramnios |
OMIM:619362 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Spontaneous, recurrent epistaxis, Brain abscess, Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Restri... |
OMIM:187300 |
Stevenson-Carey Syndrome |
|
Recurrent urinary tract infections, Posteriorly rotated ears, Central hypoventilation, Low-set ears |
OMIM:611961 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
Immunodeficiency 47 |
|
Decreased circulating total IgG, Sensorineural hearing impairment, Decreased circulating antibody... |
OMIM:300972 |
Bloom Syndrome |
|
Postnatal growth retardation, Recurrent upper respiratory tract infections, Bronchiectasis, Malar... |
OMIM:210900 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Respiratory insufficiency due to muscle weakness, Respiratory insufficiency, Protruding ear, Noct... |
OMIM:254090 |
Trisomy 8P |
|
Posteriorly rotated ears, Recurrent upper respiratory tract infections, Aplasia/Hypoplasia of the... |
ORPHA:264450 |
Kenny-Caffey Syndrome, Type 1 |
|
Birth length less than 3rd percentile, Intrauterine growth retardation, Recurrent bacterial infec... |
OMIM:244460 |
Isolated Cleft Lip |
|
Chronic otitis media, Conductive hearing impairment, Abnormal Eustachian tube morphology, Polyhyd... |
ORPHA:199302 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Skin rash, Pneumonia, Recurrent skin infections, Gastritis, Bronchiectasis, Hepati... |
OMIM:619381 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis |
OMIM:257500 |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Apnea, Central hypoventilation, Respiratory insufficiency |
OMIM:300673 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... |
ORPHA:70 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Sepsis, Polyhydramnios |
ORPHA:2241 |
Menkes Disease |
|
Intrauterine growth retardation, Osteomyelitis, Sepsis |
ORPHA:565 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Recurrent bacterial ... |
OMIM:214500 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Apneic episodes in infancy, Apnea, Hypercapnia, Respiratory insufficiency |
OMIM:618222 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Dyspnea, Severe infec... |
ORPHA:79138 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... |
OMIM:164310 |
Currarino Syndrome |
|
Perianal abscess, Recurrent urinary tract infections, Sepsis |
OMIM:176450 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Rhizomelia, Short stature, Posteriorly rotated ears, Postnatal growth retardation, Recurrent infe... |
OMIM:611209 |
Perry Syndrome |
|
Hypoventilation, Respiratory arrest, Central hypoventilation, Respiratory insufficiency |
OMIM:168605 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Hypoventilation, Breathing dysregulation |
OMIM:618232 |
Caroli Syndrome |
|
Pancreatitis, Sepsis, Cholangitis |
ORPHA:480520 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Lymphadenitis, Growth delay, Recurrent bacterial infections, Inflammation of the large in... |
OMIM:615895 |
Haddad Syndrome |
|
Central hypoventilation, Polyhydramnios, Breathing dysregulation, Sensorineural hearing impairmen... |
ORPHA:99803 |
Interstitial Lung Disease 2 |
|
Dyspnea, Increased circulating antibody level, Cough, Decreased DLCO, Pulmonary arterial hyperten... |
OMIM:178500 |
Infantile Systemic Hyalinosis |
|
Growth delay, Recurrent bacterial infections, Severe short stature, Lymphedema |
ORPHA:2176 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... |
ORPHA:98915 |
Postpoliomyelitis Syndrome |
|
Hypoventilation, Respiratory insufficiency |
ORPHA:2942 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Short stature, Recurrent pneumonia, Sepsis, Growth delay, Intrauterine grow... |
ORPHA:99646 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Reduced vital capacity, Osteomyelitis, Edema, Pulmonary embolism, Increased pulmonary vascular re... |
ORPHA:70591 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Hypoventilation, Sensorineural hearing impairment, Intrauterine growth retardation |
OMIM:620275 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Short stature, Epistaxis, Enterocolitis, Gout, Ulcerative colitis, Growth delay, Thyroiditis, Inf... |
ORPHA:79259 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Stridor, Hypoventilation, Apnea |
OMIM:617143 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Tracheomalacia, Recurrent otitis media, Abnormal Eustachian tube morphology |
ORPHA:513456 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Myositis, Respiratory insufficiency, Pulmonary arterial hypertension, Respirator... |
ORPHA:258 |
Glycogen Storage Disease Ib |
|
Short stature, Gout, Recurrent bacterial infections, Inflammation of the large intestine, Delayed... |
OMIM:232220 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
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Hypoventilation, Recurrent pneumonia, Short stature |
OMIM:618493 |
Sandhoff Disease, Infantile Form |
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Exaggerated startle response, Hepatosplenomegaly |
ORPHA:309155 |
Primary Sclerosing Cholangitis |
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Recurrent systemic pyogenic infections, Hepatitis, Ulcerative colitis, Uveitis, Polyclonal elevat... |
ORPHA:171 |
Lysinuric Protein Intolerance |
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Glomerulonephritis, Respiratory insufficiency, Decreased circulating antibody level, Tubulointers... |
ORPHA:470 |
Branchiootorenal Syndrome 1 |
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Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:113650 |
Muscular Dystrophy, Duchenne Type |
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Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... |
OMIM:310200 |
Malignant Hyperthermia, Susceptibility To, 5 |
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Hypercapnia |
OMIM:601887 |
Rabin-Pappas Syndrome |
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Tracheomalacia, Hypoventilation, Sensorineural hearing impairment, Conductive hearing impairment |
OMIM:620155 |
Developmental And Epileptic Encephalopathy 68 |
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Exaggerated startle response |
OMIM:618201 |
Developmental And Epileptic Encephalopathy 8 |
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Exaggerated startle response |
OMIM:300607 |
Acute Liver Failure |
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Skin rash, Abnormal respiratory system physiology, Hepatic necrosis, Hepatocellular necrosis, Hep... |
ORPHA:90062 |
Sandhoff Disease |
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Hepatomegaly, Exaggerated startle response, Hepatosplenomegaly |
OMIM:268800 |
Hyperekplexia 2 |
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Exaggerated startle response |
OMIM:614619 |
Gm2 Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dystonia |
ORPHA:309246 |
Marshall-Smith Syndrome |
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Apnea, Short stature, Hearing impairment, Patent ductus arteriosus, Recurrent upper respiratory t... |
OMIM:602535 |
Hyperekplexia 3 |
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Exaggerated startle response |
OMIM:614618 |
Stiff Person Spectrum Disorder |
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Exaggerated startle response |
ORPHA:3198 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
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Respiratory failure requiring assisted ventilation, Short stature, Progressive pulmonary function... |
ORPHA:77293 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Episcleritis, Recurrent respiratory infections, Severe short stature, Eczema, Keratitis, Cheiliti... |
ORPHA:2273 |
Malignant Hyperthermia Of Anesthesia |
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Tachypnea, Hypercapnia |
ORPHA:423 |
Prader-Willi Syndrome |
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Hypoventilation, Recurrent respiratory infections, Short stature, Polyhydramnios, Delayed puberty... |
OMIM:176270 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
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Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
Stiff-Person Syndrome |
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Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Hypoventilation, Cyanosis, Short stature, Central hypoventilation, Asthma, Recurrent upper respir... |
ORPHA:293987 |
Autosomal Recessive Polycystic Kidney Disease |
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Hypoventilation, Recurrent urinary tract infections, Spontaneous pneumothorax, Cholangitis, Recur... |
ORPHA:731 |
Aregenerative Anemia |
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Dyspnea, Abnormality of interleukin secretion, Bone marrow hypocellularity |
ORPHA:101096 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Exaggerated startle response |
OMIM:609541 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
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Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia |
OMIM:619482 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Exaggerated startle response |
ORPHA:320406 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Exaggerated startle response |
OMIM:618598 |
Idiopathic Pulmonary Fibrosis |
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Exertional dyspnea, Bronchiectasis, Crackles, Cough |
ORPHA:2032 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
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Exaggerated startle response |
OMIM:620114 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Tay-Sachs Disease |
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Exaggerated startle response |
OMIM:272800 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
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Tremor, Exaggerated startle response |
OMIM:620327 |
Tay-Sachs Disease |
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Exaggerated startle response, Tremor, Hepatosplenomegaly, Dystonia, Laryngeal dystonia |
ORPHA:845 |
Gm2-Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dystonia |
OMIM:272750 |
Leukodystrophy, Hypomyelinating, 13 |
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Exaggerated startle response |
OMIM:616881 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Exaggerated startle response |
OMIM:608800 |
Bethlem Myopathy |
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Hypoventilation, Reduced maximal expiratory pressure |
ORPHA:610 |
Gm1 Gangliosidosis Type 1 |
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Exaggerated startle response, Dystonia, Hepatosplenomegaly |
ORPHA:79255 |
Exercise-Induced Malignant Hyperthermia |
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Vertigo, Tachypnea, Crackles, Hypocapnia |
ORPHA:466650 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Exaggerated startle response, Dystonia |
ORPHA:438216 |
Charcot-Marie-Tooth Disease Type 4C |
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Hypoventilation, Sensorineural hearing impairment, Respiratory insufficiency |
ORPHA:99949 |
Warburg-Cinotti Syndrome |
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Posteriorly rotated ears, Pneumothorax, Joint swelling, Atresia of the external auditory canal, L... |
OMIM:618175 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
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Exaggerated startle response |
OMIM:617864 |
Glycine Encephalopathy With Normal Serum Glycine |
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Exaggerated startle response |
OMIM:617301 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Dehydration, Short stature, Acne, Hypocapnia |
ORPHA:90794 |
Developmental And Epileptic Encephalopathy 49 |
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Exaggerated startle response |
OMIM:617281 |
Plaa-Associated Neurodevelopmental Disorder |
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Exaggerated startle response, Dystonia |
ORPHA:521426 |
Asparagine Synthetase Deficiency |
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Tremor, Exaggerated startle response |
OMIM:615574 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Exaggerated startle response |
OMIM:253800 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Exaggerated startle response |
OMIM:617527 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Fasciitis, Osteomyelitis, Growth delay, Recurrent Staphylococcus aureus infections, Septic arthri... |
ORPHA:642 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Tracheomalacia, Hypoventilation, Anasarca, Ascites |
OMIM:203700 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Hypoventilation, Apnea, Short stature, Breathing dysregulation, Patent ductus arteriosus, Aspirat... |
ORPHA:438213 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response |
OMIM:618367 |
Sotos Syndrome |
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Conductive hearing impairment, Patent ductus arteriosus, Pedal edema, Pulmonary bleb, Chronic oti... |
ORPHA:821 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Exaggerated startle response |
OMIM:619522 |