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AICARDI-GOUTIERES SYNDROME [1 record]
Record 1 - internal organization data 2010-06-30
Record 1, English
Record 1, Subject field(s)
- Human Diseases - Various
- Genetics
Record 1, Main entry term, English
- Aicardi-Goutières syndrome
1, record 1, English, Aicardi%2DGouti%C3%A8res%20syndrome
correct
Record 1, Abbreviations, English
Record 1, Synonyms, English
Record 1, Textual support, English
Record number: 1, Textual support number: 1 DEF
A progressive encephalopathy with calcification of the basal ganglia, excessive number of lymphocytes in the cerebrospinal fluid (lymphocytosis), brain atrophy, and early death. 1, record 1, English, - Aicardi%2DGouti%C3%A8res%20syndrome
Record number: 1, Textual support number: 1 OBS
Elevated level of inteferon-alpha in the brain fluids - in the absence of infection - is a marker for the disorder. 1, record 1, English, - Aicardi%2DGouti%C3%A8res%20syndrome
Record 1, French
Record 1, Domaine(s)
- Maladies humaines diverses
- Génétique
Record 1, Main entry term, French
- syndrome d'Aicardi-Goutières
1, record 1, French, syndrome%20d%27Aicardi%2DGouti%C3%A8res
correct, masculine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
- syndrome Aicardi-Goutières 1, record 1, French, syndrome%20Aicardi%2DGouti%C3%A8res
correct, masculine noun
Record 1, Textual support, French
Record number: 1, Textual support number: 1 DEF
Encéphalopathie familiale à transmission autosomale récessive associant des calcifications des noyaux gris centraux, une atteinte de la myéline et une lymphocytose du liquide céphalo-rachidien (LCR). 1, record 1, French, - syndrome%20d%27Aicardi%2DGouti%C3%A8res
Record number: 1, Textual support number: 1 OBS
Ces encéphalopathies se présentent cliniquement comme une foetopathie virale et le diagnostic n'est encore souvent porté que lorsqu'un second cas apparaît dans la famille. 1, record 1, French, - syndrome%20d%27Aicardi%2DGouti%C3%A8res
Record 1, Spanish
Record 1, Textual support, Spanish
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