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FNS-Harmony
Last uploaded:
November 2, 2023
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| Preferred Name | Gaucher's disease | |
| Synonyms |
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| Definitions |
A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver. |
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| ID |
http://purl.obolibrary.org/obo/DOID_1926 |
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| definition |
A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver.
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| imported from | ||
| label |
Gaucher's disease
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| prefixIRI |
DOID:1926
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| prefLabel |
Gaucher's disease
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| subClassOf |
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