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loading...| Preferred Name |
Mucolipidoses [Disease/Finding] |
|
| Synonyms |
Mucolipidoses |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000002043 |
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| altLabel |
Mucolipidoses Mucolipidosis Sialidosis |
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| cui |
C0026697 |
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| MESH DEFINITION |
A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7) |
|
| MESH DUI |
D009081 |
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| MeSH name |
Mucolipidoses |
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| MESH UI |
M0014165 |
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| NDFRT kind |
DISEASE_KIND |
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| notation |
N0000002043 |
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| NUI |
N0000002043 |
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| prefLabel |
Mucolipidoses [Disease/Finding] |
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| SNOMED CID |
70528007 |
|
| tui |
T047 |
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| subClassOf |
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