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Drug Target Ontology
Last uploaded:
February 15, 2018
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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. 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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| 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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| hasDbXref |
SNOMEDCT_US_2016_03_01:2859005 SNOMEDCT_US_2016_03_01:180485001 SNOMEDCT_US_2016_03_01:190794006 OMIM:610539 ICD10CM:E75.22 OMIM:608013 ORDO:355 OMIM:230900 UMLS_CUI:C0017205 MESH:D005776 OMIM:231000 OMIM:230800 NCI:C61268 SNOMEDCT_US_2016_03_01:62201009
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| hasExactSynonym |
kerasin thesaurismosis lipoid histiocytosis (kerasin type) acid beta-glucosidase deficiency glocucerebrosidase deficiency Gaucher disease glucosylceramide beta-glucosidase deficiency
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| hasOBONamespace |
disease_ontology
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| id |
DOID:1926
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| imported from | ||
| inSubset | ||
| 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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