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loading...| Preferred Name |
Mucopolysaccharidosis IV [Disease/Finding] |
|
| Synonyms |
Mucopolysaccharidosis 4 |
|
| 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 |
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| 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 |
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| MeSH name |
Mucopolysaccharidosis IV |
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| MESH UI |
M0014173 |
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| NDFRT kind |
DISEASE_KIND |
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| notation |
N0000002046 |
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| NUI |
N0000002046 |
|
| prefLabel |
Mucopolysaccharidosis IV [Disease/Finding] |
|
| SNOMED CID |
378007 |
|
| tui |
T047 |
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| subClassOf |
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