| 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:0000938 | Osteopenia | "Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value." [HPO:curators] |
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| HP:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators] |
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| HP:0001257 | Spasticity | "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators] |
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| HP:0001332 | Dystonia | "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [HPO:curators] |
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| HP:0001409 | Portal hypertension | |
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| HP:0001511 | Intrauterine growth retardation | |
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| HP:0001876 | Pancytopenia | |
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| HP:0002020 | Gastroesophageal reflux | |
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| HP:0002040 | Esophageal varices | |
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| HP:0002110 | Bronchiectasis | |
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| HP:0002206 | Pulmonary fibrosis | |
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| HP:0002216 | Premature graying of hair | |
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| HP:0002239 | Gastrointestinal hemorrhage | |
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| HP:0002875 | Exertional dyspnea | |
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| HP:0007763 | Retinal telangiectasia | |
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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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