| HP:0000006 | Autosomal dominant inheritance | "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." [HPO:curators] |
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| HP:0000961 | Cyanosis | |
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| HP:0001217 | Clubbing | "Non-edematous swelling/broadening of the soft tissue of the fingertips in all dimensions." [HPO:curators] |
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| HP:0001394 | Cirrhosis | |
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| HP:0001425 | Heterogeneous | |
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| HP:0001508 | Failure to thrive | |
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| HP:0002020 | Gastroesophageal reflux | |
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| HP:0002090 | Pneumonia | |
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| HP:0002092 | Pulmonary hypertension | |
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| HP:0002098 | Respiratory distress | |
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| HP:0002110 | Bronchiectasis | |
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| HP:0002205 | Recurrent respiratory infections | |
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| HP:0002206 | Pulmonary fibrosis | |
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| HP:0002789 | Tachypnea | |
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| HP:0002875 | Exertional dyspnea | |
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| HP:0003829 | Incomplete penetrance | |
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| HP:0005576 | Tubulointerstitial fibrosis | |
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| HP:0006515 | Interstitial pneumonitis | |
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| HP:0006517 | Congenital alveolar proteinosis | |
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| HP:0006519 | Alveolar cell carcinoma | |
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| HP:0010444 | Pulmonary insufficiency | "The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole." [HPO:curators] |
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| HP:0010702 | Increased immunoglobulin level | "An abnormally increased level of immunoglobulin in blood." [HPO:probinson] |
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| HP:0012735 | Cough | "A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation." [HPO:probinson] |
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| HP:0025175 | Honeycomb lung | "Extensive interstitial fibrosis with alveolar disruption and bronchiolectasis." [] |
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| HP:0025179 | Ground-glass opacification | "A descriptive term that is applied to computer tomography imaging and that refers to a hazy area of increased attenuation in the lung with preserved bronchial and vascular markings." [] |
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| HP:0025390 | Reticular pattern on pulmonary HRCT | "On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh." [PMID:23247773] |
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| HP:0030830 | Rales | "Abnormal breath sounds characterized by discontinuous clicking or rattling." [UToronto:chum] |
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| HP:0100759 | Clubbing of fingers | "Terminal broadening of the fingers (distal phalanges of the fingers)." [HPO:sdoelken] |
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