Preferred Name | mucopolysaccharidosis type IV | |
Synonyms |
chondroosteodystrophy Morquio syndrome eccentroosteochondrodysplasia |
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Definitions |
genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint instability, development of cervical myelopathy, and excessive urinary keratan sulfate. |
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ID |
http://purl.bioontology.org/ontology/CSP/1849-6163 |
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altLabel |
chondroosteodystrophy Morquio syndrome eccentroosteochondrodysplasia |
|
cui |
C0026707 |
|
definition |
genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint instability, development of cervical myelopathy, and excessive urinary keratan sulfate. |
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DID |
1849-6163 |
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Inverse of RB | ||
notation |
1849-6163 |
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prefLabel |
mucopolysaccharidosis type IV |
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tui |
T047 |
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subClassOf |
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