3308 (4.0%)
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Corticobasal syndrome
---- 皮質基底核症候群
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行動異常
Corticobasal syndrome (CBS) is a rare neurodegenerative disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction.
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Orphanet:454887
日本語症例報告(J-STAGE & J-GLOBAL)
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Monarch
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3308 (4.0%)
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PPoma
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甲状腺異常
PPoma is a type of pancreatic endocrine tumor (see this term) that hypersecretes pancreatic polypeptide (PP) but that does not cause a hypersecretion syndrome (is non-functioning) and instead presents with only non-specific symptoms such as weight loss, abdominal pain, jaundice, diarrhea and/or an abdominal mass, hence leading to a late diagnosis. PPoma can be associated with multiple endocrine neoplasia 1 (MEN-1; see this term).
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Orphanet:97278
日本語症例報告(J-STAGE & J-GLOBAL)
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Monarch
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3308 (4.0%)
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Opsoclonus-myoclonus syndrome
---- オプソクローヌス・ミオクローヌス症候群
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網膜症
Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders.
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Orphanet:1183
日本語症例報告(J-STAGE & J-GLOBAL)
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症例報告検索
Monarch
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3308 (4.0%)
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Eosinophilic colitis
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自閉症
Orphanet:402035
日本語症例報告(J-STAGE & J-GLOBAL)
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症例報告検索
Monarch
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3308 (4.0%)
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Panhypophysitis
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無月経
Panhypophysitis is a rare, acquired pituitary hormone deficiency, a type of primary hypophysitis characterized by an inflammation of the entire pituitary gland. Common clinical presentation is diabetes insipidus with polyuria and polydipsia and partial or panhypopituitarism. Other symptoms may include headaches, nausea/vomiting, visual disturbances and fatigue.
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Orphanet:95513
日本語症例報告(J-STAGE & J-GLOBAL)
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Monarch
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3308 (4.0%)
|
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
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色素性網膜症
常染色体劣性遺伝
Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure.
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Orphanet:71212
日本語症例報告(J-STAGE & J-GLOBAL)
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Monarch
UR-DBMS
KEGG:H01364
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3308 (4.0%)
|
Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
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蛋白尿
Orphanet:436271
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
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3308 (4.0%)
|
Frontotemporal dementia with motor neuron disease
---- 前頭側頭葉認知症 +/- 筋萎縮性側索硬化症1
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眼瞼下垂
Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis; see this term). The disease is progressive, with death occurring 2-5 years after onset.
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Orphanet:275872
日本語症例報告(J-STAGE & J-GLOBAL)
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症例報告検索
Monarch
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3308 (4.0%)
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Spinocerebellar ataxia type 7
---- 脊髄小脳失調症7型
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網膜症
常染色体優性遺伝
Genetic anticipation with paternal anticipation bias
Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.
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Orphanet:94147
日本語症例報告(J-STAGE & J-GLOBAL)
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症例報告検索
Monarch
UR-DBMS
Gene Reviews
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3308 (4.0%)
|
Maternally-inherited diabetes and deafness
|
腎不全
ミトコンドリア遺伝
Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.
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Orphanet:225
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
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