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The Government of Canada’s terminology and linguistic data bank.
MUCOPOLYSACCHARIDOSE [4 records]
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
- Sly syndrome
1, record 1, English, Sly%20syndrome
correct
Record 1, Abbreviations, English
Record 1, Synonyms, English
- mucopolysaccharidosis type VII 2, record 1, English, mucopolysaccharidosis%20type%20VII
correct
- MPS VII 2, record 1, English, MPS%20VII
correct
- MPS VII 2, record 1, English, MPS%20VII
- mucopolysaccharidosis VII 3, record 1, English, mucopolysaccharidosis%20VII
correct
- MPS VII 3, record 1, English, MPS%20VII
correct
- MPS VII 3, record 1, English, MPS%20VII
- Sly's syndrome 4, record 1, English, Sly%27s%20syndrome
correct
Record 1, Textual support, English
Record number: 1, Textual support number: 1 CONT
Sly syndrome, also called mucopolysaccharidosis type VII (MPS VII), is a very rare lysosomal storage disease that has an autosomal-recessive inheritance pattern. ... Sly syndrome is caused by deficiency of the enzyme beta-glucuronidase, and it was the first MPS [mucopolysaccharidosis] for which the altered gene was localized to an autosome chromosome, the long arm of chromosome 7 ... 5, record 1, English, - Sly%20syndrome
Record 1, Key term(s)
- MPSVII
- mucopolysaccharidosis type 7
- mucopolysaccharidosis 7
- MPS 7
- MPS7
Record 1, French
Record 1, Domaine(s)
- Maladies humaines diverses
- Génétique
Record 1, Main entry term, French
- maladie de Sly
1, record 1, French, maladie%20de%20Sly
correct, feminine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
- mucopolysaccharidose de type VII 1, record 1, French, mucopolysaccharidose%20de%20type%20VII
correct, feminine noun
- MPS VII 1, record 1, French, MPS%20VII
correct, feminine noun
- MPS VII 1, record 1, French, MPS%20VII
- syndrome de Sly 2, record 1, French, syndrome%20de%20Sly
correct, masculine noun
Record 1, Textual support, French
Record number: 1, Textual support number: 1 CONT
La mucopolysaccharidose de type VII(MPS VII) ou [la] maladie de Sly est une maladie de surcharge lysosomale, très rare, du groupe des mucopolysaccharidoses. [...] La maladie est due au déficit en bêta-D-glucuronidase, responsable de l'accumulation dans les lysosomes de divers glycosaminoglycanes [...] La transmission de la MPS VII se fait sur le mode récessif autosomique. 3, record 1, French, - maladie%20de%20Sly
Record 1, Key term(s)
- mucopolysaccharidose VII
- MPSVII
- mucopolysaccharidose de type 7
- MPS 7
- MPS7
Record 1, Spanish
Record 1, Textual support, Spanish
Record 2 - internal organization data 2019-11-21
Record 2, English
Record 2, Subject field(s)
- Human Diseases - Various
- Genetics
Record 2, Main entry term, English
- Hunter syndrome
1, record 2, English, Hunter%20syndrome
correct
Record 2, Abbreviations, English
Record 2, Synonyms, English
- mucopolysaccharidosis type II 2, record 2, English, mucopolysaccharidosis%20type%20II
correct
- MPS II 3, record 2, English, MPS%20II
correct
- MPS II 3, record 2, English, MPS%20II
- mucopolysaccharidosis II 4, record 2, English, mucopolysaccharidosis%20II
correct
- MPS II 4, record 2, English, MPS%20II
correct
- MPS II 4, record 2, English, MPS%20II
- Hunter's syndrome 5, record 2, English, Hunter%27s%20syndrome
correct
- Hunter's disease 6, record 2, English, Hunter%27s%20disease
correct
Record 2, Textual support, English
Record number: 2, 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 2, English, - Hunter%20syndrome
Record 2, Key term(s)
- MPSII
- mucopolysaccharidosis type 2
- mucopolysaccharidosis 2
- MPS2
Record 2, French
Record 2, Domaine(s)
- Maladies humaines diverses
- Génétique
Record 2, Main entry term, French
- maladie de Hunter
1, record 2, French, maladie%20de%20Hunter
correct, feminine noun
Record 2, Abbreviations, French
Record 2, Synonyms, French
- mucopolysaccharidose de type II 2, record 2, French, mucopolysaccharidose%20de%20type%20II
correct, feminine noun
- MPS II 3, record 2, French, MPS%20II
correct, feminine noun
- MPS II 3, record 2, French, MPS%20II
- syndrome de Hunter 4, record 2, French, syndrome%20de%20Hunter
correct, masculine noun, less frequent
Record 2, Textual support, French
Record number: 2, 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 2, French, - maladie%20de%20Hunter
Record 2, Key term(s)
- MPSII
- mucopolysaccharidose de type 2
- MPS2
Record 2, Spanish
Record 2, Textual support, Spanish
Record 3 - internal organization data 2011-10-26
Record 3, English
Record 3, Subject field(s)
- Radiography (Medicine)
- Musculoskeletal System
Record 3, Main entry term, English
- sail vertebra
1, record 3, English, sail%20vertebra
correct
Record 3, Abbreviations, English
Record 3, Synonyms, English
- hook-shaped vertebra 2, record 3, English, hook%2Dshaped%20vertebra
correct
Record 3, Textual support, English
Record number: 3, Textual support number: 1 DEF
A hypoplastic vertebra in the upper lumbar region, with an inferior beak, seen in mucopolysaccharidoses. [From GBONE, 1980, p. 271 and REBON, 1980, p. 3501.] 3, record 3, English, - sail%20vertebra
Record 3, French
Record 3, Domaine(s)
- Radiographie (Médecine)
- Appareil locomoteur (Médecine)
Record 3, Main entry term, French
- vertèbre en rostre
1, record 3, French, vert%C3%A8bre%20en%20rostre
correct, feminine noun
Record 3, Abbreviations, French
Record 3, Synonyms, French
Record 3, Textual support, French
Record number: 3, Textual support number: 1 DEF
Vertèbre hypoplasique de la région dorso-lombaire, caractéristique d’une maladie de surcharge de type mucopolysaccharidose ou mucolipidose. Elle peut témoigner également d’une hypothyroïdie. 2, record 3, French, - vert%C3%A8bre%20en%20rostre
Record number: 3, Textual support number: 1 OBS
source d : EMSQU, 31132, A05, 1978, p. 16. 2, record 3, French, - vert%C3%A8bre%20en%20rostre
Record 3, Spanish
Record 3, Textual support, Spanish
Record 4 - internal organization data 1992-09-16
Record 4, English
Record 4, Subject field(s)
- Radiography (Medicine)
- Musculoskeletal System
Record 4, Main entry term, English
- tonguelike defect
1, record 4, English, tonguelike%20defect
correct, see observation
Record 4, Abbreviations, English
Record 4, Synonyms, English
Record 4, Textual support, English
Record number: 4, Textual support number: 1 CONT
In mucopolysaccharidoses, the vertebrae, especially in the lower thoracic and upper lumbar regions, appear hypoplastic with a "tonguelike" defect anteriorly. [From MESRO, 1984, vol. 2, p. 153.] 2, record 4, English, - tonguelike%20defect
Record number: 4, Textual support number: 1 OBS
tonguelike defect (of vertebra). 2, record 4, English, - tonguelike%20defect
Record 4, French
Record 4, Domaine(s)
- Radiographie (Médecine)
- Appareil locomoteur (Médecine)
Record 4, Main entry term, French
- vertèbre en languette
1, record 4, French, vert%C3%A8bre%20en%20languette
correct, feminine noun
Record 4, Abbreviations, French
Record 4, Synonyms, French
Record 4, Textual support, French
Record number: 4, Textual support number: 1 CONT
L'association de vertèbres en languettes et d’agénésie de l'odontoïde chez un enfant doit faire évoquer le diagnostic de mucopolysaccharidose. 1, record 4, French, - vert%C3%A8bre%20en%20languette
Record 4, Spanish
Record 4, Textual support, Spanish
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