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Regulation of Transcription Ontology
Last uploaded:
December 4, 2018
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| Preferred Name | Gaucher disease | |
| Synonyms |
GD |
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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://identifiers.org/omim/230800 |
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| altLabel |
GD
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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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| id |
OMIM:230800
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| notation |
OMIM:230800
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| prefLabel |
Gaucher disease
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| subClassOf |
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