loading...| Preferred Name |
Mucopolysaccharidosis I [Disease/Finding] |
|
| Synonyms |
Lipochondrodystrophy |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000001849 |
|
| altLabel |
Lipochondrodystrophy Mucopolysaccharidosis 1 Mucopolysaccharidosis Type I Mucopolysaccharidosis I |
|
| cui |
C0023786 |
|
| May be treated by | ||
| MESH DEFINITION |
Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (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 syndrome, Hurler-Scheie syndrome and Scheie syndrome (formerly mucopolysaccharidosis V). Symptoms may include DWARFISM; hepatosplenomegaly; thick, coarse facial features with low nasal bridge; corneal clouding; cardiac complications; and noisy breathing. |
|
| MESH DUI |
D008059 |
|
| MeSH name |
Mucopolysaccharidosis I |
|
| MESH UI |
M0012558 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000001849 |
|
| NUI |
N0000001849 |
|
| prefLabel |
Mucopolysaccharidosis I [Disease/Finding] |
|
| SNOMED CID |
75610003 |
|
| tui |
T047 |
|
| subClassOf |