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EpilepsyOntology
Last uploaded:
November 8, 2021
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| Preferred Name | Gaucher's disease | |
| Synonyms |
acid beta-glucosidase deficiency kerasin thesaurismosis Gaucher disease glucosylceramide beta-glucosidase deficiency glocucerebrosidase deficiency |
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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. Xref MGI. OMIM mapping confirmed by DO. [SN]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_1926 |
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| comment |
Xref MGI.
OMIM mapping confirmed by DO. [SN].
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| database_cross_reference |
UMLS_CUI:C0017205 SNOMEDCT_US_2018_03_01:62201009 ICD10CM:E75.22 SNOMEDCT_US_2018_03_01:2859005 MESH:D005776 GARD:8233 NCI:C61268 ORDO:355
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| fromArticle |
true
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| has exact synonym |
acid beta-glucosidase deficiency kerasin thesaurismosis Gaucher disease glucosylceramide beta-glucosidase deficiency glocucerebrosidase deficiency
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| has_obo_namespace |
disease_ontology
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| id |
DOID:1926
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| imported from | ||
| in subset |
http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_FlyBase_slim |
|
| label |
Gaucher's disease
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|
| notation |
DOID:1926
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| prefLabel |
Gaucher's disease
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| see also | ||
| 文本定义 |
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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| subClassOf |
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