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Human Disease Ontology
Last uploaded:
December 20, 2024
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| Preferred Name | Gaucher's disease | |
| Synonyms |
Gaucher disease glocucerebrosidase deficiency glucosylceramide beta-glucosidase deficiency acid beta-glucosidase deficiency kerasin thesaurismosis |
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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]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_1926 |
|
| comment |
Xref MGI.
OMIM mapping confirmed by DO. [SN].
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|
| database_cross_reference |
SNOMEDCT_US_2023_03_01:190794006 UMLS_CUI:C0017205 ICD10CM:E75.22 MESH:D005776 GARD:8233 NCI:C61268 ORDO:355
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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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| has exact synonym |
Gaucher disease glocucerebrosidase deficiency glucosylceramide beta-glucosidase deficiency acid beta-glucosidase deficiency kerasin thesaurismosis
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| has_obo_namespace |
disease_ontology
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|
| id |
DOID:1926
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|
| in_subset |
http://purl.obolibrary.org/obo/doid#NCIthesaurus |
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| label |
Gaucher's disease
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|
| notation |
DOID:1926
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|
| prefLabel |
Gaucher's disease
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| subClassOf |
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