3308 (4.0%)
|
Cocaine intoxication
---- コカイン中毒
|
精神病
Orphanet:90068
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
3308 (4.0%)
|
Multiple endocrine neoplasia type 4
|
内分泌系異常
常染色体優性遺伝
Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN (see this term), an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors.
>> 翻訳 (Google)
Orphanet:276152
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
|
3308 (4.0%)
|
Posterior cortical atrophy
|
視覚の異常
Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities.
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Orphanet:54247
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
3308 (4.0%)
|
Dermatofibrosarcoma protuberans
---- 隆起性皮膚線維肉腫
|
攻撃的行動
Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22).
>> 翻訳 (Google)
Orphanet:31112
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
3308 (4.0%)
|
Colchicine poisoning
|
腎不全
Colchicine poisoning is a potentially life-threatening poisoning, due to ingestion of the drug or consumption of the plant Colchicum autumnale, that usually begins with gastrointestinal symptoms (e.g. abdominal pain, nausea, vomiting, and diarrhea, that cause severe dehydration) and an initial leukocytosis leading to marrow failure (24 hours after ingestion), followed by potentially fatal multi-organ failure with mental status change, oliguric renal failure, disseminated intravascular coagulation, electrolyte imbalance, acid-base disturbance, cardiac failure/arrest and shock within 1-3 days.
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Orphanet:31824
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
3308 (4.0%)
|
Primary lateral sclerosis
---- 原発性側索硬化症
|
認知症
Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production.
>> 翻訳 (Google)
Orphanet:35689
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
3308 (4.0%)
|
MODY
---- 若年発症成人型糖尿病
|
腎異常
常染色体優性遺伝
MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.
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Orphanet:552
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
KEGG:H00410
|
3308 (4.0%)
|
Acquired ichthyosis
---- 後天性魚鱗癬
|
腎不全
Orphanet:454
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
3308 (4.0%)
|
Fragile X-associated tremor/ataxia syndrome
---- ぜい弱X関連振戦/運動失調症候群
|
斜視
X連鎖優性遺伝
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.
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Orphanet:93256
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
KEGG:H01731
Gene Reviews
|
3308 (4.0%)
|
Epidermodysplasia verruciformis
---- 疣贅様表皮異形成への感受性 1
|
盲
常染色体劣性遺伝
Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer.
>> 翻訳 (Google)
Orphanet:302
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
KEGG:H00842
|