| HP:0000007 | Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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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:0002098 | Respiratory distress | |
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| HP:0002104 | Apnea | "Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event." [HPO:curators] |
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| HP:0002110 | Bronchiectasis | |
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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:0002878 | Early respiratory failure | |
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| HP:0003577 | Onset at birth | |
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| HP:0005942 | Desquamative interstitial pneumonitis | |
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| HP:0006517 | Congenital alveolar proteinosis | |
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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: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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