loading...| Preferred Name |
Hurler Syndrome |
|
| Synonyms |
Mucopolysaccharidosis Type IH Hurler Syndrome MPS I H |
|
| Definitions |
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. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61261 |
|
| code |
C61261 |
|
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 |
|
| Contributing_Source |
Cellosaurus CTRP |
|
| 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. |
|
| Display_Name |
Hurler Syndrome |
|
| FULL_SYN |
Mucopolysaccharidosis Type IH Hurler Syndrome MPS I H |
|
| label |
Hurler Syndrome |
|
| Legacy Concept Name |
Hurler_Syndrome |
|
| Preferred_Name |
Hurler Syndrome |
|
| prefixIRI |
Thesaurus:C61261 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0086795 |
|
| subClassOf |