Concept information
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Genetic Diseases, Inborn
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors
Mucopolysaccharidoses
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Metabolic Diseases
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors
Mucopolysaccharidoses
Término preferido
Mucopolysaccharidosis IV
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Tipo
-
mesh:Descriptor
Definición
- 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.
Concepto genérico
Etiquetas alternativas
- Eccentro-Osteochondrodysplasia
- Eccentroosteochondrodysplasia
- Morquio Disease
- Morquio Syndrome
- Morquio's Disease
- Morquio's Syndrome
- Mucopolysaccharidosis 4
- Mucopolysaccharidosis Type IV
En otras lenguas
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francés
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Maladie de Morquio
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MPS IV
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Mucopolysaccharidose de Morquio
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Mucopolysaccharidose de type 4
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Ostéochondrodysplasie type Morquio
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Syndrome de Morquio
URI
http://data.loterre.fr/ark:/67375/JVR-V8WMD259-L
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