WordNet

an impairment of health or a condition of abnormal functioning
a long thin implement made of metal or wood
any rod-shaped bacterium
a visual receptor cell that is sensitive to dim light (同)rod_cell, retinal rod
caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological
present at birth but not necessarily hereditary; acquired during fetal development (同)inborn, innate

PrepTutorEJDIC

(体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
女性の話術芸人 =diseur
(木製・金属製などの)『棒,つえ』,さお;釣りざお / (刑罰に用いる)木のむち;《the ~》むち打ち,せっかん / ロッド(長さの単位;『5』1/2yards,約5m) / (目の)桿(かん)状体(弱い光にも感じる網膜細胞) / 《米俗》ピストル
病気にかかった / 病的な,不健全な(morbid)
(病気・身体的欠陥など)生まれつきの,先天的な

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1. 微生物による食中毒疾患の鑑別診断 differential diagnosis of microbial foodborne disease
2. ウィップル病 whipples disease
3. 先天性ミオパシー congenital myopathies
4. 慢性ベリリウム症（ベリリウム症） chronic beryllium disease berylliosis
5. ピロリン酸カルシウム結晶沈着症（CPPD）の臨床症状および診断 clinical manifestations and diagnosis of calcium pyrophosphate crystal deposition cppd disease

Achromatopsia: case presentation and literature review emphasising the value of spectral domain optical coherence tomography.

Yu XX1, Rego RE Jr, Shechtman D.
Clinical & experimental optometry : journal of the Australian Optometrical Association.Clin Exp Optom.2014 Nov;97(6):507-10. doi: 10.1111/cxo.12175. Epub 2014 Jul 3.
A literature review and case presentation are used to discuss the diagnostic value of spectral domain optical coherence tomography (SD-OCT) in the assessment and management of congenital achromatopsia. A 24-year-old Hispanic man presented to the clinic with a longstanding history of decreased vision
PMID 24995800

Mechanisms of blindness: Animal models provide insight into distinct CRX-associated retinopathies.

Tran NM1, Chen S.
Developmental dynamics : an official publication of the American Association of Anatomists.Dev Dyn.2014 Oct;243(10):1153-66. doi: 10.1002/dvdy.24151. Epub 2014 Jun 27.
BACKGROUND: The homeodomain transcription factor CRX is a crucial regulator of mammalian photoreceptor gene expression. Mutations in the human CRX gene are associated with dominant inherited retinopathies Retinitis Pigmentosa (RP), Cone-Rod Dystrophy (CoRD), and Leber Congenital Amaurosis (LCA), of
PMID 24888636

Beck BB1, Phillips JB, Bartram MP, Wegner J, Thoenes M, Pannes A, Sampson J, Heller R, Göbel H, Koerber F, Neugebauer A, Hedergott A, Nürnberg G, Nürnberg P, Thiele H, Altmüller J, Toliat MR, Staubach S, Boycott KM, Valente EM, Janecke AR, Eisenberger T, Bergmann C, Tebbe L, Wang Y, Wu Y, Fry AM, Westerfield M, Wolfrum U, Bolz HJ.
Human mutation.Hum Mutat.2014 Oct;35(10):1153-62. doi: 10.1002/humu.22618. Epub 2014 Aug 11.
We describe a consanguineous Iraqi family with Leber congenital amaurosis (LCA), Joubert syndrome (JBTS), and polycystic kidney disease (PKD). Targeted next-generation sequencing for excluding mutations in known LCA and JBTS genes, homozygosity mapping, and whole-exome sequencing identified a homozy
PMID 25044745

時任毅,佐竹孝之,安竹千恵,宮房成一,江田伊勢松
整形外科と災害外科 40(1), 465-469, 1991
… Nemaline myopathy is one of congenital myopathies, and Shy and co-workers described as a nonprogressive disease of skeletal muscle, which was associated with the presence of nemaline (rodlike structures) in muscle fibers (1963).The present case report concerns a ten-year-old girl, who complained "running slow" chiefly. … Muscle biopsy findings revealed typical rod bodies, hypoplastic type I fiber, and type I fiber predominance, thus we diagnosed the case as nemaline myopathy. …
NAID 130001633097

清宮幸男,伊藤博,及川団,小原富男,大池裕治,大島寛一,岡田幸助
日本獣医師会雑誌 41(10), 725-730, 1988
先天性異常を有する2農場2例の新生子牛を疫学, 病理学および血清学的に検査した. 両例は運動失調および盲目を示し, 剖検により小脳形成不全および視神経の容積の減少を認め, 1例は顕著な水頭症を伴っていた. 組織学的に, 小脳では顆粒細胞およびプルキンエ細胞の減数, 顆粒細胞の不規則な小島状集合, プルキンエ細胞の逸所性分布ならびに白質における空隙形成などがみられた. 網膜外顆粒層の秤状体および錐状 …
NAID 130004051167