loading...| Preferred Name |
Hurler Syndrome |
|
| Synonyms |
|
|
| 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://purl.obolibrary.org/obo/NCIT_C61261 |
|
| code |
C61261 |
|
| 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 |
|
| in_subset |
http://purl.obolibrary.org/obo/NCIT_C116977 |
|
| label |
Hurler Syndrome |
|
| Legacy Concept Name |
Hurler_Syndrome |
|
| Preferred_Name |
Hurler Syndrome |
|
| prefixIRI |
NCIT:C61261 |
|
| prefLabel |
Hurler Syndrome |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0086795 |
|
| subClassOf |