loading...| Preferred Name |
Hurler syndrome |
| Synonyms |
mucopolysaccharidosis IH MPS I H mucopolysaccharidosis type 1H MPSIH mucopolysaccharidosis type IH MPS1H MPS1-H Hurler syndrome Hurler disease |
| 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 |
| database_cross_reference |
Orphanet:93473 NCIT:C61261 GARD:0012559 DOID:0111390 OMIM:607014 |
| 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. |
| exactMatch |
http://purl.obolibrary.org/obo/DOID_0111390 |
| has_exact_synonym |
MPS I H mucopolysaccharidosis type 1H MPSIH mucopolysaccharidosis type IH MPS1H Hurler syndrome Hurler disease |
| has_related_synonym |
mucopolysaccharidosis IH MPS1-H |
| IAO_0000233 | |
| id |
MONDO:0011758 |
| in_subset | |
| label |
Hurler syndrome |
| notation |
MONDO:0011758 |
| prefLabel |
Hurler syndrome |
| treeView |
http://purl.obolibrary.org/obo/MONDO_0800088 http://purl.obolibrary.org/obo/MONDO_0002254 |
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0800088 http://purl.obolibrary.org/obo/MONDO_0002254 |
| disjointWith |