Concept information
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Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lysosomal Storage Diseases
Mucopolysaccharidoses
Preferred term
Mucopolysaccharidosis IV
Type
-
Topical Descriptor
Broader concept
Entry terms
- Disease, Morquio
- Disease, Morquio's
- Eccentro Osteochondrodysplasia
- Eccentro-Osteochondrodysplasia
- Eccentroosteochondrodysplasia
- Eccentro-Osteochondrodysplasias
- Eccentroosteochondrodysplasias
- IV, Mucopolysaccharidosis Type
- IVs, Mucopolysaccharidosis Type
- Morquio Disease
- Morquio's Disease
- Morquios Disease
- Morquio's Syndrome
- Morquios Syndrome
- Morquio Syndrome
- Morquio Syndromes
- Mucopolysaccharidosis 4
- Mucopolysaccharidosis Type IV
- Mucopolysaccharidosis Type IVs
- Syndrome, Morquio
- Syndrome, Morquio's
- Syndromes, Morquio
- Type IV, Mucopolysaccharidosis
- Type IVs, Mucopolysaccharidosis
Scope note
- Genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint instability, development of cervical myelopathy, and excessive urinary keratan sulfate. There are two biochemically distinct forms, each due to a deficiency of a different enzyme.
History note
- 1992; use MUCOPOLYSACCHARIDOSIS 4 1980-1991, use ECCENTROOSTEOCHONDRODYSPLASIA 1963-1979; for MORQUIO'S DISEASE use MUCOPOLYSACCHARIDOSIS 4 1980-1991
In other languages
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Finnish
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mucopolysaccharidosis IV
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Swedish
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Galaktosamin-6-sulfatasbrist
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GALNS-brist
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Morquios sjukdom
URI
http://www.yso.fi/onto/mesh/D009085
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