Hurler syndrome
Name: |
Hurler syndrome
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Description: |
Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.
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ORPHAcode: |
93473
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Synonyms: |
Hurler disease
MPS1H
MPSIH
Mucopolysaccharidosis type 1H
Mucopolysaccharidosis type IH
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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