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MALADIE HUNTER [1 record]
Record 1 - internal organization data 2019-11-21
Record 1, English
Record 1, Subject field(s)
- Human Diseases - Various
- Genetics
Record 1, Main entry term, English
- Hunter syndrome
1, record 1, English, Hunter%20syndrome
correct
Record 1, Abbreviations, English
Record 1, Synonyms, English
- mucopolysaccharidosis type II 2, record 1, English, mucopolysaccharidosis%20type%20II
correct
- MPS II 3, record 1, English, MPS%20II
correct
- MPS II 3, record 1, English, MPS%20II
- mucopolysaccharidosis II 4, record 1, English, mucopolysaccharidosis%20II
correct
- MPS II 4, record 1, English, MPS%20II
correct
- MPS II 4, record 1, English, MPS%20II
- Hunter's syndrome 5, record 1, English, Hunter%27s%20syndrome
correct
- Hunter's disease 6, record 1, English, Hunter%27s%20disease
correct
Record 1, Textual support, English
Record number: 1, Textual support number: 1 CONT
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare X-linked recessive disease caused by deficiency of the lysosomal enzyme iduronate-2-sulphatase, leading to progressive accumulation of glycosaminoglycans in nearly all cell types, tissues and organs. Clinical manifestations include severe airway obstruction, skeletal deformities, cardiomyopathy and, in most patients, neurological decline. 7, record 1, English, - Hunter%20syndrome
Record 1, Key term(s)
- MPSII
- mucopolysaccharidosis type 2
- mucopolysaccharidosis 2
- MPS2
Record 1, French
Record 1, Domaine(s)
- Maladies humaines diverses
- Génétique
Record 1, Main entry term, French
- maladie de Hunter
1, record 1, French, maladie%20de%20Hunter
correct, feminine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
- mucopolysaccharidose de type II 2, record 1, French, mucopolysaccharidose%20de%20type%20II
correct, feminine noun
- MPS II 3, record 1, French, MPS%20II
correct, feminine noun
- MPS II 3, record 1, French, MPS%20II
- syndrome de Hunter 4, record 1, French, syndrome%20de%20Hunter
correct, masculine noun, less frequent
Record 1, Textual support, French
Record number: 1, Textual support number: 1 CONT
La mucopolysaccharidose de type II est une maladie évolutive, progressive [et] multisystémique. […] Il s'agit d'une maladie génétique transmise sur le mode récessif lié au chromosome X. 5, record 1, French, - maladie%20de%20Hunter
Record 1, Key term(s)
- MPSII
- mucopolysaccharidose de type 2
- MPS2
Record 1, Spanish
Record 1, Textual support, Spanish
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