- Abnormal respiratory system physiology (HP:0002795, a Human Phenotype Ontology term): Abnormal function of the respiratory system. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:133)
- Hypersensitivity pneumonitis (HP:0006516, a Human Phenotype Ontology term): Hypersensitivity pneumonitis involves inhalation of an antigen. This leads to an exaggerated immune response and a following inflammation of the alveoli within the lungs. The main feature of chronic hypersensitivity pneumonitis on lung biopsies is expansion of the interstitium by lymphocytes accompanied by an occasional multinucleated giant cell or loose granuloma. After exposure to the provoking antigen, following symptoms can be seen: fever, chills, malaise, cough, hemoptysis, chest tightness, dyspnea, rash, swelling and headache and can be completely reversible, based on the duration of the illness, categorized as acute (HP:0011009), subacute (HP:0011011), and chronic (HP:0011010). Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:133)
- Immunologic hypersensitivity (HP:0100326, a Human Phenotype Ontology term): Immunological states where the immune system produces harmful responses upon reexposure to sensitizing antigens. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:133)
- Weight loss (HP:0001824, a Human Phenotype Ontology term): Reduction of total body weight. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:133)
- Respiratory insufficiency (HP:0002093, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:133)
- Dyspnea (HP:0002094, a Human Phenotype Ontology term): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:133)
- Abnormal tracheobronchial morphology (HP:0005607, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:133)
- Lymphocytic interstitial pneumonia (HP:0006527, a Human Phenotype Ontology term): Lymphocytic interstitial pneumonitis is a benign lymphoproliferative disorder of the lung that is characterized by the presence of a dense, predominantly lymphocytic interstitial infiltrate (lymphocytes, plasma cells, other elements of the lymphoreticular system) that expands the alveolar septa. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:133)
- Fatigue (HP:0012378, a Human Phenotype Ontology term): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:133)
- Cough (HP:0012735, a Human Phenotype Ontology term): A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:133)
- Ground-glass opacification (HP:0025179, a Human Phenotype Ontology term): On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within which margins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:133)
- Reticulonodular pattern on pulmonary HRCT (HP:0025393, a Human Phenotype Ontology term): Co-occurrence of reticular and micronodular patterns on pulmonary high-resolution computed tomography. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:133)
- Pharyngitis (HP:0025439, a Human Phenotype Ontology term): Inflammation (due to infection or irritation) of the pharynx. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:133)
- Reduced FEV1/FVC ratio (HP:0030877, a Human Phenotype Ontology term): Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:133)
- Abnormality on pulmonary function testing (HP:0030878, a Human Phenotype Ontology term): Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:133)
- Abnormal CD4+ T cell subset proportion (HP:0031392, a Human Phenotype Ontology term): Abnormal increase or decrease of any CD4+ T cell subpopulation, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:133)
- Pulmonary fibrosis (HP:0002206, a Human Phenotype Ontology term): Replacement of normal lung tissues by fibroblasts and collagen. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:133)
- Mediastinal lymphadenopathy (HP:0100721, a Human Phenotype Ontology term): Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:133)
- Abnormal skin morphology (HP:0011121, a Human Phenotype Ontology term): Any morphological abnormality of the skin. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:133)
These phenotypes are associated with the disease Chronic beryllium disease (ORPHA:133, an Orphanet rare-disease identifier).