WordNet
- present at birth but not necessarily hereditary; acquired during fetal development (同)inborn, innate
- the congenital absence of pigmentation in the eyes and skin and hair
PrepTutorEJDIC
- (病気・身体的欠陥など)生まれつきの,先天的な
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- 1. 遺伝性皮膚症 the genodermatoses
- 2. 貧食細胞機能の原発性疾患：概要 primary disorders of phagocytic function an overview
- 3. 振子様眼振 pendular nystagmus
- 4. 律動眼振 jerk nystagmus
- 5. 皮膚扁平上皮癌の疫学および危険因子 epidemiology and risk factors for cutaneous squamous cell carcinoma
Japanese Journal
- 先天性眼振を呈した家族性先天性虹彩欠損症の1例
- 小崎 寛子
- Equilibrium research 69(2), 76-79, 2010-04-01
- … A case of congenital anidiria with congenital nystagmus was reported. … Nystagmus of this case was not supressed with closed eye, and may be of mixed origin of peripheral anterior visual pathway and central nervous system, as in albinism. … Recent articles demonstrated that PAX6 gene was responsible for hereditary anidiria and congenital nystagmus. …
- NAID 10026394860
- 先天眼皮膚白皮症に合併した増殖硝子体網膜症にトリパンブルー併用硝子体手術を施行した1例 (特集 第63回日本臨床眼科学会講演集(1))
- 田中 住美,河野 智子,上村 文 [他]
- 臨床眼科 64(3), 329-333, 2010-03
- NAID 40017027357
- 一側性の難聴で発見された Waardenburg 症候群I型例
- 吉崎 智貴,片田 彰博,國部 勇 [他],高原 幹,片山 昭公,林 達哉,原渕 保明
- 耳鼻咽喉科臨床 103(2), 121-124, 2010-02-01
- … Waardenburg's syndrome is a hereditary disease which shows lateral displacement of the inner canthi, broad nasal root, hyperplasia of the eyebrows, albinism of the frontal head hair, congenital hearing loss, and heterochromia iridis. … Since the characteristic features are important information to diagnose this syndrome, it is important to pay attention to the features of patients complaining of congenital hearing loss. …
- NAID 10026216563
Related Links
- 6 Dec 2011 ... Ocular Manifestations of Albinism. Albinism refers to a group of hereditary disorders that involve an abnormality of melanin synthesis or distribution.
- Synonym: Congenital albinism. There is congenital abnormality in melanin synthesis. (Fig. 1.18). Pigment in skin, hair and eyes is reduced or absent from birth. All types are autosomal recessive. Patients tend to be prone to skin cancer, from ...
Related Pictures
★リンクテーブル★
| リンク元 | 「眼皮膚白皮症」 |
| 関連記事 | 「congenita」「congenital」 |
「眼皮膚白皮症」
- 英
- oculocutaneous albinism OCA
- 同
- 全身性白皮症 total albinism、先天性白皮症、先天性白斑症 congenital albinism、眼皮膚白子症
- 関
- 色素異常症
| ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A | 11q14-q21 | http://omim.org/entry/203100 |
| ALBINISM, OCULOCUTANEOUS, TYPE IB; OCA1B | 11q14-q21 | http://omim.org/entry/606952 |
| ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2 | 16q24.3, 15q11.2-q12 | http://omim.org/entry/203200 |
| ALBINISM, OCULOCUTANEOUS, TYPE III; OCA3 | 9p23 | http://omim.org/entry/203290 |
| ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4 | 5p13.3 | http://omim.org/entry/606574 |
「congenita」
- adj.
- (後置するラテン語形容詞)先天性の
- ex.
「congenital」
- adj.
- 生まれつきの、先天的な