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loading...| Preferred Name | Mucopolysaccharidoses [Disease/Finding] | |
| Synonyms |
Mucopolysaccharidoses Mucopolysaccharidosis |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000002044 |
|
| altLabel |
Mucopolysaccharidoses Mucopolysaccharidosis |
|
| cui |
C0026703 |
|
| MESH DEFINITION |
Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency. |
|
| MESH DUI |
D009083 |
|
| MeSH name |
Mucopolysaccharidoses |
|
| MESH UI |
M0014167 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000002044 |
|
| NUI |
N0000002044 |
|
| prefLabel |
Mucopolysaccharidoses [Disease/Finding] |
|
| SNOMED CID |
11380006 |
|
| tui |
T047 |
|
| subClassOf |
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