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Cell Cycle Ontology
Last uploaded:
June 26, 2014
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| Preferred Name | Gaucher disease | |
| Synonyms |
Gaucher disease 1 |
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| Definitions |
(GD): A lysosomal storage disease due to deficient activity of beta-glucocerebrosidase and characterized by accumulation of glucosylceramide in the reticulo- endothelial system. Different clinical forms are recognized depending on the presence (neuronopathic forms) or absence of central nervous system involvement, severity and age of onset.(GD1): A form of Gaucher disease characterized by hepatosplenomegaly with consequent anemia and thrombopenia, and bone involvement. The central nervous system is not involved. |
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| ID |
http://purl.obolibrary.org/obo/OMIM_230800 |
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| definition |
(GD): A lysosomal storage disease due to deficient activity of beta-glucocerebrosidase and characterized by accumulation of glucosylceramide in the reticulo- endothelial system. Different clinical forms are recognized depending on the presence (neuronopathic forms) or absence of central nervous system involvement, severity and age of onset.(GD1): A form of Gaucher disease characterized by hepatosplenomegaly with consequent anemia and thrombopenia, and bone involvement. The central nervous system is not involved.
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| has_obo_namespace |
cell_cycle_ontology
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| has_related_synonym |
Gaucher disease 1
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| id |
OMIM:230800
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| label |
Gaucher disease
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| notation |
OMIM:230800
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| prefLabel |
Gaucher disease
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| treeView | ||
| subClassOf |
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