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DeCS
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Descritor Inglês:
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Neuroacanthocytosis
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Descritor Espanhol:
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Neuroacantocitosis
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Descritor Português:
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Neuroacantocitose
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Sinônimos Inglês:
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Acanthocytoses, Chorea
Acanthocytosis with Neurologic Disorder
Acanthocytosis, Chorea
Chorea Acanthocytoses
Chorea Acanthocytosis
Chorea Acanthocytosis Syndrome
Chorea Acanthocytosis Syndromes
Chorea-Acanthocytoses
Chorea-Acanthocytosis
Choreoacanthocytoses
Choreoacanthocytosis
Levine Critchley Syndrome
Levine-Critchley Syndrome
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Categoria:
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C10.228.662.262.249.937
C16.320.400.550
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Definição Inglês:
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An inherited autosomal disorder that is characterized by neurodegeneration; orofacial and buccal DYSKINESIAS; CHOREA; and thorny-looking red cells (ACANTHOCYTES). This disorder is due to mutations of chorein which is important in protein trafficking and is encoded by Vps13a on chromosome 9q21. |
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Nota Histórica Inglês:
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2008 (2000)
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Qualificadores Permitidos Inglês:
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Número do Registro:
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52592
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Identificador Único:
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D054546
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Ocorrência na BVS:
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Similar:
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DeCS
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