loading...| Preferred Name |
Scheie Syndrome |
|
| Synonyms |
|
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Scheie_Syndrome |
|
| DEFINITION |
An autosomal recessive disorder representing the milder form of mucopolysaccharidosis type I. It is characterized by deficiency of the enzyme alpha-L-iduronidase. Signs and symptoms include broad mouth with full lips, cloudy cornea which may lead to blindness, stiff joints, and hirsutism. |
|
| FULL_SYN |
Hurler-Scheie Syndrome |
|
| isDefinedBy |
An autosomal recessive disorder representing the milder form of mucopolysaccharidosis type I. It is characterized by deficiency of the enzyme alpha-L-iduronidase. Signs and symptoms include broad mouth with full lips, cloudy cornea which may lead to blindness, stiff joints, and hirsutism. |
|
| label |
Scheie Syndrome |
|
| prefixIRI |
Thesaurus:Scheie_Syndrome |
|
| prefLabel |
Scheie Syndrome |
|
| Synonym |
Hurler-Scheie Syndrome |
|
| subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Mucopolysaccharidosis_Type_I |