- Pleural effusion (HP:0002202): The presence of an excessive amount of fluid in the pleural cavity. Evidence: PCS. Frequency: Very rare (HP:0040284). (PMID:29299831)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: Occasional (HP:0040283). (OMIM:181000)
- Iridocyclitis (HP:0001094): A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body. Evidence: IEA. (OMIM:181000)
- Increased circulating immunoglobulin concentration (HP:0010702): An increased level of gamma globulin (immunoglobulin) in the blood. Evidence: PCS. (OMIM:181000)
- Chorioretinitis (HP:0012424): An inflammation of the choroid and retina. Evidence: IEA. (OMIM:181000)
- Elevated bronchoalveolar lavage fluid lymphocyte proportion (HP:0032976): Usually, Lymphoycytes make up less than 15% of all cells found in the bronchoalveloar lavage fluid. This elevated cell proportion can be induced by virus or drugs, or is associated with specific diseases. Evidence: PCS. (PMID:29299831)
- Mediastinal lymphadenopathy (HP:0100721): 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: PCS. (PMID:29299831)
- Photophobia (HP:0000613): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: IEA. (OMIM:181000)
- Abnormal pulmonary interstitial morphology (HP:0006530): Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis. Evidence: IEA. (OMIM:181000)
- Chest pain (HP:0100749): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. Evidence: PCS. (PMID:29299831)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: IEA. (OMIM:181000)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: IEA. (OMIM:181000)
- Sporadic (HP:0003745): Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected. Evidence: TAS. (OMIM:181000)
- Uveitis (HP:0000554): Inflammation of one or all portions of the uveal tract. Evidence: IEA. (OMIM:181000)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: Occasional (HP:0040283). (OMIM:181000)
- Anorexia (HP:0002039): Lack of desire to eat (loss of appetite). Evidence: IEA. (OMIM:181000)
- Arthritis (HP:0001369): Inflammation of a joint. Evidence: TAS. (OMIM:181000)
- Elevated erythrocyte sedimentation rate (HP:0003565): An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. Evidence: IEA. (OMIM:181000)
- Epiphora (HP:0009926): Abnormally increased lacrimation, that is, excessive tearing (watering eye). Evidence: TAS. (OMIM:181000)
- Pulmonary infiltrates (HP:0002113). Evidence: PCS. (PMID:29299831)
- Inflammation of the large intestine (HP:0002037): Inflammation, or an inflammatory state in the large intestine. Evidence: TAS. (OMIM:181000)
- Bronchiectasis (HP:0002110): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: PCS. Frequency: Occasional (HP:0040283). (PMID:10430755)
- Adult onset (HP:0003581): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: PCS. (PMID:10430755)
- Emphysema (HP:0002097). Evidence: PCS. (PMID:29299831)
- Dyspnea (HP:0002094): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: IEA. (OMIM:181000)
- Cough (HP:0012735): A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. Evidence: TAS. (OMIM:181000)
- Hypercalciuria (HP:0002150). Evidence: IEA. (OMIM:181000)
- Pulmonary arterial hypertension (HP:0002092): Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position. Evidence: PCS. (PMID:29299831)
- Hypoxemia (HP:0012418): An abnormally low level of blood oxygen. Evidence: PCS. (PMID:29299831)
- Abnormal T cell physiology (HP:0011840): A functional anomaly of T cells. Evidence: TAS. (OMIM:181000)
- Restrictive ventilatory defect (HP:0002091): A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus. Evidence: PCS. (PMID:29299831)
- Bone cyst (HP:0012062): A fluid filled cavity that develops with a bone. Evidence: TAS. (OMIM:181000)
- Abnormal salivary gland morphology (HP:0010286): Any abnormality of the salivary glands, the exocrine glands that produce saliva. Evidence: TAS. (OMIM:181000)
- Clubbing (HP:0001217): Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails. Evidence: PCS. (PMID:29299831)
- Generalized lymphadenopathy (HP:0008940): A generalized form of lymphadenopathy. Evidence: TAS. (OMIM:181000)
- Pericardial effusion (HP:0001698): Accumulation of fluid within the pericardium. Evidence: PCS. Frequency: Very rare (HP:0040284). (PMID:29299831)
- Pulmonary fibrosis (HP:0002206): Replacement of normal lung tissues by fibroblasts and collagen. Evidence: PCS. (PMID:29299831)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: IEA. (OMIM:181000)
- Blurred vision (HP:0000622): Lack of sharpness of vision resulting in the inability to see fine detail. Evidence: TAS. (OMIM:181000)
- Enlarged lacrimal glands (HP:0007734): Abnormally big lacrimal glands. Evidence: IEA. (OMIM:181000)
- Glaucoma (HP:0000501): Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. Evidence: IEA. (OMIM:181000)
- Pancytopenia (HP:0001876): An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). Evidence: TAS. (OMIM:181000)
- Hemoptysis (HP:0002105): Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs. Evidence: PCS. (PMID:29299831)
- Optic neuropathy (HP:0001138). Evidence: PCS. Frequency: Occasional (HP:0040283). (OMIM:181000)
These phenotypes are associated with the disease sarcoidosis, susceptibility to, 1 (OMIM:181000).