loading...| Preferred Name |
mucopolysaccharidosis type I |
|
| Synonyms |
mucolipidosis I |
|
| Definitions |
autosomal recessive systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase and characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate; there are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler's syndrome, Hurler-Scheie syndrome and Scheie's syndrome (formerly mucopolysaccharidosis V); symptoms may include dwarfism, hepatosplenomegaly, gargoyle-like facies, corneal clouding, cardiac complications, and noisy breathing. |
|
| ID |
http://purl.bioontology.org/ontology/CSP/1849-6334 |
|
| altLabel |
mucolipidosis I lipomucopolysaccharidosis Hurler syndrome iduronidase deficiency disease gargoylism lipochondrodystrophy |
|
| cui |
C0023786 C0086795 C0268226 C0023806 |
|
| definition |
autosomal recessive systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase and characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate; there are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler's syndrome, Hurler-Scheie syndrome and Scheie's syndrome (formerly mucopolysaccharidosis V); symptoms may include dwarfism, hepatosplenomegaly, gargoyle-like facies, corneal clouding, cardiac complications, and noisy breathing. |
|
| DID |
1849-6334 |
|
| Inverse of RB | ||
| Inverse of RO | ||
| notation |
1849-6334 |
|
| prefLabel |
mucopolysaccharidosis type I |
|
| tui |
T047 |
|
| subClassOf |