loading...| Preferred Name |
Hurler-Scheie Syndrome |
|
| Synonyms |
Hurler-Scheie Syndrome MPS I H-S |
|
| Definitions |
An autosomal recessive disorder representing the intermediate form of mucopolysaccharidosis type I. It is characterized by deficiency of the enzyme alpha-L-iduronidase. Signs and symptoms include short stature, cloudy cornea, umbilical hernia, joint stiffening, hepatosplenomegaly, and mental retardation. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C122782 |
|
| code |
C122782 |
|
| Concept_In_Subset | ||
| Contributing_Source |
Cellosaurus |
|
| DEFINITION |
An autosomal recessive disorder representing the intermediate form of mucopolysaccharidosis type I. It is characterized by deficiency of the enzyme alpha-L-iduronidase. Signs and symptoms include short stature, cloudy cornea, umbilical hernia, joint stiffening, hepatosplenomegaly, and mental retardation. |
|
| FULL_SYN |
Hurler-Scheie Syndrome MPS I H-S |
|
| label |
Hurler-Scheie Syndrome |
|
| Preferred_Name |
Hurler-Scheie Syndrome |
|
| prefixIRI |
Thesaurus:C122782 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0086431 |
|
| subClassOf |