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Atrophy
Any weakening or degeneration, especially through lack of use. [from NCI]
Not genetically inherited
clinical entity without genetic inheritance. [from ORDO]
Unaffected
This term applies to a family member in whom the diagnosis that is the primary focus of investigation is excluded. [from HPO]
Mitochondrial inheritance
A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy). [from HPO]
Chronic obstructive pulmonary disease
Chronic obstructive pulmonary disease (COPD) is a common, complex disorder associated with substantial morbidity and mortality. COPD is defined by irreversible airflow obstruction due to chronic bronchitis, emphysema, and/or small airways disease. Airflow obstruction is typically determined by reductions in quantitative spirometric indices, including forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (FVC) (Silverman et al., 2002; Celedon et al., 2004). [from OMIM]
Qualitative or quantitative defects of alphaB-cristallin
Qualitative or quantitative defects of TRIM32
Qualitative or quantitative defects of emerin
Qualitative or quantitative defects of titin
Qualitative or quantitative defects of collagen 6
Qualitative or quantitative defects of troponin
Qualitative or quantitative defects of protein SERCA1
Qualitative or quantitative defects of myotubularin
Qualitative or quantitative defects of filamin C
Qualitative or quantitative defects of fukutin
Qualitative or quantitative defects of tropomyosin
Qualitative or quantitative defects of desmin
Qualitative or quantitative defects of integrin alpha-7
Qualitative or quantitative defects of protein O-mannosyltransferase 2
Qualitative or quantitative defects of Torsin-1A-interacting protein 1
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