loading...| Preferred Name |
Hurler syndrome |
|
| Synonyms |
MPS I |
|
| 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. Check for "https://www.cancer.gov/about-cancer/treatment/clinical-trials/intervention/C61261" active clinical trials using this agent. ("http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C61261" NCI Thesaurus) |
|
| ID |
http://purl.bioontology.org/ontology/PDQ/CDR0000689763 |
|
| altLabel |
MPS I Hurler disease mucopolysaccharidosis type IH |
|
| cui |
C0086795 |
|
| DATE FIRST PUBLISHED |
2010-11-18 |
|
| Date last modified |
2017-03-30 |
|
| 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. Check for "https://www.cancer.gov/about-cancer/treatment/clinical-trials/intervention/C61261" active clinical trials using this agent. ("http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C61261" NCI Thesaurus) |
|
| NCI ID |
C61261 |
|
| notation |
CDR0000689763 |
|
| ORIG STY |
Disease/diagnosis |
|
| prefLabel |
Hurler syndrome |
|
| tui |
T047 |
|
| subClassOf |