| Subject ID, form name, form status, visit, visit age, medical history, procedures and tests, medications, review pf systems, dysphagia, inflammatory bowel disease, rheumatoid arthritis, lupus, pectus carinatum, reflux symptoms, respiratory infection, scoliosis, thoracic cage abnormalities, and hydrocephalus of participants with or without rare genetic disorders of the airways and involved in the \"Mucociliary Clearance Consortium (MCC) Rare Genetic Disorders of the Airways: Cross-section Comparison of Clinical Features, and Development of Novel Screening and Genetic Test\" project. | Medications. Allergies RxNorm Input (17) [Medical History Form] | phv00306903.v1.p1 |
| Subject ID, registration age, start age, status, and protocol of participants with or without rare genetic disorders of the airways and involved in the \"Mucociliary Clearance Consortium (MCC) Rare Genetic Disorders of the Airways: Cross-section Comparison of Clinical Features, and Development of Novel Screening and Genetic Test\" project. | Participant status | phv00307610.v1.p1 |
| Subject ID, visit, visit age, form name, form status, gender, informed consent age, demographics, fertility history, health care program, relatives of the participant, biological mother of the proband, biological father of proband, maternal grandmother, maternal grandfather, paternal grandmother, paternal grandfather, biological brothers and sisters, sinu-pulmonary symptoms, and situm abnormalities of participants with or without rare genetic disorders of the airways and involved in the \"Mucociliary Clearance Consortium (MCC) Rare Genetic Disorders of the Airways: Cross-section Comparison of Clinical Features, and Development of Novel Screening and Genetic Test\" project. | G. Paternal Grandfather. Q15b. Spontaneous abortions for spouse. If yes, number gestational age in weeks [Family History Form] | phv00306219.v1.p1 |
| Subject ID, form name, form status, visit, visit age, medical history, procedures and tests, medications, review pf systems, dysphagia, inflammatory bowel disease, rheumatoid arthritis, lupus, pectus carinatum, reflux symptoms, respiratory infection, scoliosis, thoracic cage abnormalities, and hydrocephalus of participants with or without rare genetic disorders of the airways and involved in the \"Mucociliary Clearance Consortium (MCC) Rare Genetic Disorders of the Airways: Cross-section Comparison of Clinical Features, and Development of Novel Screening and Genetic Test\" project. | Electron Microscopy Interpretation: CA: Defect suggestive of changes seen in PCD [Medical History Form] | phv00307324.v1.p1 |
| Subject ID, form name, form status, visit, visit age, blood samples, buccal samples, sputum samples, secondary labs if PCD or variant CF has not been established, candida species, mycobacterial results, and wet mount of participants with or without rare genetic disorders of the airways and involved in the \"Mucociliary Clearance Consortium (MCC) Rare Genetic Disorders of the Airways: Cross-section Comparison of Clinical Features, and Development of Novel Screening and Genetic Test\" project. | Q3. Sputum Samples. AFB culture and smear [Lab Form] | phv00306617.v1.p1 |
| Subject ID, visit, visit age, form name, form status, gender, informed consent age, demographics, fertility history, health care program, relatives of the participant, biological mother of the proband, biological father of proband, maternal grandmother, maternal grandfather, paternal grandmother, paternal grandfather, biological brothers and sisters, sinu-pulmonary symptoms, and situm abnormalities of participants with or without rare genetic disorders of the airways and involved in the \"Mucociliary Clearance Consortium (MCC) Rare Genetic Disorders of the Airways: Cross-section Comparison of Clinical Features, and Development of Novel Screening and Genetic Test\" project. | F. Paternal Grandmother. Q15. Children. If no, tried conceiving [Family History Form] | phv00305910.v1.p1 |
| Subject ID, form name, form status, visit, visit age, vital signs, and physical examination of participants with or without rare genetic disorders of the airways and involved in the \"Mucociliary Clearance Consortium (MCC) Rare Genetic Disorders of the Airways: Cross-section Comparison of Clinical Features, and Development of Novel Screening and Genetic Test\" project. | Q7. Extremities. Clubbing [Physical Exam Form] | phv00307527.v1.p1 |
| Subject ID, form name, form status, visit, visit age, medical history, procedures and tests, medications, review pf systems, dysphagia, inflammatory bowel disease, rheumatoid arthritis, lupus, pectus carinatum, reflux symptoms, respiratory infection, scoliosis, thoracic cage abnormalities, and hydrocephalus of participants with or without rare genetic disorders of the airways and involved in the \"Mucociliary Clearance Consortium (MCC) Rare Genetic Disorders of the Airways: Cross-section Comparison of Clinical Features, and Development of Novel Screening and Genetic Test\" project. | Medications. List Medications RxNorm Input (6) [Medical History Form] | phv00306926.v1.p1 |
| Subject ID, visit, visit age, form name, form status, gender, informed consent age, demographics, fertility history, health care program, relatives of the participant, biological mother of the proband, biological father of proband, maternal grandmother, maternal grandfather, paternal grandmother, paternal grandfather, biological brothers and sisters, sinu-pulmonary symptoms, and situm abnormalities of participants with or without rare genetic disorders of the airways and involved in the \"Mucociliary Clearance Consortium (MCC) Rare Genetic Disorders of the Airways: Cross-section Comparison of Clinical Features, and Development of Novel Screening and Genetic Test\" project. | D. Maternal Grandmother. Q8. How many half siblings does the maternal GM have? Brothers [Family History Form] | phv00306113.v1.p1 |
| Subject ID, form name, form status, visit, visit age, bronchiectasis, evidence of immunodeficiency autoimmune disease, idiopathic bronchiectasis, with or without NTM disease, diagnosis of PCD, diagnosis of probable PCD, diagnosis of possible PCD in children less than 5 years of age, variant (non-classical) CF, diagnosis of CF, pseudohypoaldosteronism (PHA1), and no clear-cut diagnosis of participants with or without rare genetic disorders of the airways and involved in the \"Mucociliary Clearance Consortium (MCC) Rare Genetic Disorders of the Airways: Cross-section Comparison of Clinical Features, and Development of Novel Screening and Genetic Test\" project. | Q7. Undefined. No clear-cut diagnosis [Final Diagnosis Form] | phv00306534.v1.p1 |
| Subject ID, visit, visit age, form name, form status, gender, informed consent age, demographics, fertility history, health care program, relatives of the participant, biological mother of the proband, biological father of proband, maternal grandmother, maternal grandfather, paternal grandmother, paternal grandfather, biological brothers and sisters, sinu-pulmonary symptoms, and situm abnormalities of participants with or without rare genetic disorders of the airways and involved in the \"Mucociliary Clearance Consortium (MCC) Rare Genetic Disorders of the Airways: Cross-section Comparison of Clinical Features, and Development of Novel Screening and Genetic Test\" project. | D. Maternal Grandmother. Q15b. Spontaneous abortions. If yes, number gestational age in weeks (1) [Family History Form] | phv00306196.v1.p1 |
| Subject ID, form name, form status, visit, visit age, medical history, procedures and tests, medications, review pf systems, dysphagia, inflammatory bowel disease, rheumatoid arthritis, lupus, pectus carinatum, reflux symptoms, respiratory infection, scoliosis, thoracic cage abnormalities, and hydrocephalus of participants with or without rare genetic disorders of the airways and involved in the \"Mucociliary Clearance Consortium (MCC) Rare Genetic Disorders of the Airways: Cross-section Comparison of Clinical Features, and Development of Novel Screening and Genetic Test\" project. | Scoliosis [Medical History Form] | phv00307009.v1.p1 |
| Subject ID, form name, form status, visit, visit age, medical history, procedures and tests, medications, review pf systems, dysphagia, inflammatory bowel disease, rheumatoid arthritis, lupus, pectus carinatum, reflux symptoms, respiratory infection, scoliosis, thoracic cage abnormalities, and hydrocephalus of participants with or without rare genetic disorders of the airways and involved in the \"Mucociliary Clearance Consortium (MCC) Rare Genetic Disorders of the Airways: Cross-section Comparison of Clinical Features, and Development of Novel Screening and Genetic Test\" project. | Procedures/Test: (Information from tests (med records) done prior to study visit. Other culture result, specify [Medical History Form] | phv00307032.v1.p1 |
| Subject ID, form name, form status, visit, visit age, bronchiectasis, evidence of immunodeficiency autoimmune disease, idiopathic bronchiectasis, with or without NTM disease, diagnosis of PCD, diagnosis of probable PCD, diagnosis of possible PCD in children less than 5 years of age, variant (non-classical) CF, diagnosis of CF, pseudohypoaldosteronism (PHA1), and no clear-cut diagnosis of participants with or without rare genetic disorders of the airways and involved in the \"Mucociliary Clearance Consortium (MCC) Rare Genetic Disorders of the Airways: Cross-section Comparison of Clinical Features, and Development of Novel Screening and Genetic Test\" project. | Q3. Diagnosis of possible PCD in children less than 5 years of age: Situs solitus and low nasal NO and CF has been ruled out [Final Diagnosis Form] | phv00306511.v1.p1 |
| Subject ID, form name, form status, informed consent age, visit, visit age, and inclusion and exclusion criteria of participants with or without rare genetic disorders of the airways and involved in the \"Mucociliary Clearance Consortium (MCC) Rare Genetic Disorders of the Airways: Cross-section Comparison of Clinical Features, and Development of Novel Screening and Genetic Test\" project. | Inclusion Criteria. High Suspicion PCD Base: clinical features (chronic Sino pulmonary disease, chronic otitis media, history of neonatal respiratory distress or situs inversus) [Eligibility Form] | phv00305804.v1.p1 |
| Subject ID, form name, form status, visit, visit age, medical history, procedures and tests, medications, review pf systems, dysphagia, inflammatory bowel disease, rheumatoid arthritis, lupus, pectus carinatum, reflux symptoms, respiratory infection, scoliosis, thoracic cage abnormalities, and hydrocephalus of participants with or without rare genetic disorders of the airways and involved in the \"Mucociliary Clearance Consortium (MCC) Rare Genetic Disorders of the Airways: Cross-section Comparison of Clinical Features, and Development of Novel Screening and Genetic Test\" project. | Procedures/Test: (Information from tests (med records) done prior to study visit. Abdominal Ultrasound: polysplenia [Medical History Form] | phv00306694.v1.p1 |
| Subject ID, visit, visit age, form name, form status, gender, informed consent age, demographics, fertility history, health care program, relatives of the participant, biological mother of the proband, biological father of proband, maternal grandmother, maternal grandfather, paternal grandmother, paternal grandfather, biological brothers and sisters, sinu-pulmonary symptoms, and situm abnormalities of participants with or without rare genetic disorders of the airways and involved in the \"Mucociliary Clearance Consortium (MCC) Rare Genetic Disorders of the Airways: Cross-section Comparison of Clinical Features, and Development of Novel Screening and Genetic Test\" project. | F. Paternal Grandmother. Q14. Paternal GM sinu-pulmonary symptoms: Pectus excavatum [Family History Form] | phv00306428.v1.p1 |
| Subject ID, form name, form status, visit, visit age, medical history, procedures and tests, medications, review pf systems, dysphagia, inflammatory bowel disease, rheumatoid arthritis, lupus, pectus carinatum, reflux symptoms, respiratory infection, scoliosis, thoracic cage abnormalities, and hydrocephalus of participants with or without rare genetic disorders of the airways and involved in the \"Mucociliary Clearance Consortium (MCC) Rare Genetic Disorders of the Airways: Cross-section Comparison of Clinical Features, and Development of Novel Screening and Genetic Test\" project. | Procedures/Test: (Information from tests (med records) done prior to study visit. 5905 Culture 3 Result: OP flora [Medical History Form] | phv00307318.v1.p1 |
| Subject ID, form name, form status, gender, relative ID, visit, visit age, age, genetic illnesses, approximate age at death, sino-pulmonary symptoms, cause of death, fertility history, confirmed diagnosis, sino-pulmonary symptoms, Marfran syndrome or related disorder, rheumatoid arthritis or other rheumatologic or connective tissue disease, relation of the subject to the proband, polycystic kidney disease, bronchiectasis, and retinitis pigmentosa of participants with or without rare genetic disorders of the airways and involved in the \"Mucociliary Clearance Consortium (MCC) Rare Genetic Disorders of the Airways: Cross-section Comparison of Clinical Features, and Development of Novel Screening and Genetic Test\" project. | Fertility History (if applicable). Qc. Elective abortions [Relative Questionnaire] | phv00307633.v1.p1 |
| Subject ID, visit, visit age, form name, form status, gender, informed consent age, demographics, fertility history, health care program, relatives of the participant, biological mother of the proband, biological father of proband, maternal grandmother, maternal grandfather, paternal grandmother, paternal grandfather, biological brothers and sisters, sinu-pulmonary symptoms, and situm abnormalities of participants with or without rare genetic disorders of the airways and involved in the \"Mucociliary Clearance Consortium (MCC) Rare Genetic Disorders of the Airways: Cross-section Comparison of Clinical Features, and Development of Novel Screening and Genetic Test\" project. | B. Biological Mother. Q1. Is birth mothers information available [Family History Form] | phv00305827.v1.p1 |