loading...| Preferred Name |
Hurler Syndrome |
|
| Synonyms |
|
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Hurler_Syndrome |
|
| DEFINITION |
An autosomal recessive inherited disorder of mucopolysaccharide metabolism. It is the most severe form of mucopolysaccharidosis type I. It is characterized by deficiency of the enzyme alpha-L-iduronidase resulting in the accumulation of mucopolysaccharides in the tissues. |
|
| isDefinedBy |
An autosomal recessive inherited disorder of mucopolysaccharide metabolism. It is the most severe form of mucopolysaccharidosis type I. It is characterized by deficiency of the enzyme alpha-L-iduronidase resulting in the accumulation of mucopolysaccharides in the tissues. |
|
| label |
Hurler Syndrome |
|
| prefixIRI |
Thesaurus:Hurler_Syndrome |
|
| prefLabel |
Hurler Syndrome |
|
| subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Mucopolysaccharidosis_Type_I |