WordNet

an impairment of health or a condition of abnormal functioning
caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological

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1. 視神経症 optic neuropathies
2. 全身疾患と関連した遺伝性ニューロパチー hereditary neuropathies associated with generalized disorders
3. 先天異常の遺伝学的および環境的原因 genetic and environmental causes of birth defects
4. ミトコンドリアミオパシー：臨床的特徴および診断 mitochondrial myopathies clinical features and diagnosis
5. 遺伝性ニューロパチーの概要 overview of hereditary neuropathies

CRISPR-engineered mosaicism rapidly reveals that loss of Kcnj13 function in mice mimics human disease phenotypes.

Zhong H1, Chen Y2, Li Y2, Chen R3, Mardon G4.
Scientific reports.Sci Rep.2015 Feb 10;5:8366. doi: 10.1038/srep08366.
The era of genomics has demanded the development of more efficient and timesaving approaches to validate gene function in disease. Here, we utilized the CRISPR-Cas9 system to generate Kcnj13 mutant mice by zygote injection to verify the pathogenic role of human KCNJ13, mutations of which are thought
PMID 25666713

[Chest pain - not always the heart! Clinical impact of gastrointestinal diseases in non-cardiac chest pain].

Frieling T1, Bergdoldt G2, Allescher HD3, Riemann JF4.
Zeitschrift für Gastroenterologie.Z Gastroenterol.2015 Feb;53(2):120-4. doi: 10.1055/s-0034-1385770. Epub 2015 Feb 10.
Non cardiac chest pain (NCCP) are recurrent angina pectoris like pain without evidence of coronary heart disease in conventional diagnostic evaluation. The prevalence of NCCP is up to 70 % and may be detected in this order at all levels of the medical health care system (general practitioner, emer
PMID 25668714

Leber hereditary optic neuropathy - historical report in comparison with the current knowledge.

Piotrowska A1, Korwin M2, Bartnik E3, Tońska K4.
Gene.Gene.2015 Jan 15;555(1):41-9. doi: 10.1016/j.gene.2014.09.048. Epub 2014 Sep 26.
Leber hereditary optic neuropathy (LHON) is a genetic, maternally inherited disease caused by point mutations in the mitochondrial genome. LHON patients present with sudden, painless and usually bilateral loss of vision caused by optic nerve atrophy. The first clinical description of the disease was
PMID 25261848

英: Leber hereditary optic neuropathy, LHON, Leber's hereditary optic neuropathy
同: レーバー遺伝性視神経萎縮症 Leber遺伝性視神経萎縮症 Leber hereditary optic atrophy、レーバー視神経萎縮症　 Leber optic neuropathy, レーベル病 Leber disease Leber's disease
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レーベル遺伝性視神経萎縮症 : 2 件
レーバー遺伝性視神経萎縮症 : 85 件
レーベル遺伝性視神経症 : 約 12,700 件
レーバー遺伝性視神経症 : 42 件

疾患：illnessより厳密な概念。「ある臓器に明確な障害が確認され、それによって症状が出ているとはっきり説明できる場合」 (PSY.9)

特定の原因、病態生理、症状、経過、予後、病理組織所見が全てそろった場合 (PSY.9)

something that is very wrong with people's attitudes, way of life or with society.

リンク元	「レーベル遺伝性視神経症」
関連記事	「disease」