loading...| Preferred Name | Mucopolysaccharidosis IV [Disease/Finding] | |
| Synonyms |
Mucopolysaccharidosis 4 Mucopolysaccharidosis Type IV Eccentroosteochondrodysplasia Morquio's Syndrome Mucopolysaccharidosis IV Eccentro-Osteochondrodysplasia Morquio's Disease Morquio Disease Morquio Syndrome |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000002046 |
|
| altLabel |
Mucopolysaccharidosis 4 Mucopolysaccharidosis Type IV Eccentroosteochondrodysplasia Morquio's Syndrome Mucopolysaccharidosis IV Eccentro-Osteochondrodysplasia Morquio's Disease Morquio Disease Morquio Syndrome |
|
| cui |
C0026707 |
|
| May be treated by | ||
| MESH DEFINITION |
Genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint instability, development of cervical myelopathy, and excessive urinary keratan sulfate. There are two biochemically distinct forms, each due to a deficiency of a different enzyme. |
|
| MESH DUI |
D009085 |
|
| MeSH name |
Mucopolysaccharidosis IV |
|
| MESH UI |
M0014173 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000002046 |
|
| NUI |
N0000002046 |
|
| prefLabel |
Mucopolysaccharidosis IV [Disease/Finding] |
|
| SNOMED CID |
378007 |
|
| tui |
T047 |
|
| subClassOf |