loading...| Preferred Name |
Hurler syndrome |
|
| Synonyms |
MPS1H mucopolysaccharidosis type 1H Hurler syndrome MPS I H Hurler disease mucopolysaccharidosis type IH MPSIH mucopolysaccharidosis IH MPS1-H |
|
| Definitions |
Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0011758 |
|
| has_exact_synonym |
MPS1H mucopolysaccharidosis type 1H Hurler syndrome MPS I H Hurler disease mucopolysaccharidosis type IH MPSIH |
|
| has_related_synonym |
mucopolysaccharidosis IH MPS1-H |
|
| IAO_0000233 | ||
| label |
Hurler syndrome |
|
| prefixIRI |
MONDO:0011758 |
|
| prefLabel |
Hurler syndrome |
|
| textual definition |
Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy. |
|
| disjointWith | ||
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0001586 http://purl.obolibrary.org/obo/MONDO_0800088 |