| Metadata | |
|---|---|
| ID | DOID:12802 |
| Name | mucopolysaccharidosis I |
| Definition | A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase. http://en.wikipedia.org/wiki/Mucopolysaccharidosis#MPS_I |
| Xrefs |
SNOMEDCT_US_2023_03_01:267453008 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Hurler syndrome [EXACT] Hurler-Scheie syndrome [EXACT] iduronidase deficiency disease [EXACT] Lipochondrodystrophy [EXACT] MPS I - Hurler syndrome [EXACT] Mucopolysaccharidosis, MPS-I [EXACT] Mucopolysaccharidosis, type 1 [EXACT] |
| Parent Relationships |