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Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
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| Preferred Name | Gaucher Disease | |
| Synonyms |
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| Definitions |
An inherited lysosomal storage disease caused by deficiency of the enzyme glucocerebrosidase. It results in the accumulation of a fatty substance called glucocerebroside in mononuclear cells in the bone marrow, liver, spleen, brain, and kidneys. Signs and symptoms include hepatomegaly, splenomegaly, neurologic disorders, lymphadenopathy, skeletal disorders, anemia and thrombocytopenia. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C61268 |
|
| code |
C61268
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| Contributing_Source |
Cellosaurus NICHD
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|
| definition |
An inherited lysosomal storage disease caused by deficiency of the enzyme glucocerebrosidase. It results in the accumulation of a fatty substance called glucocerebroside in mononuclear cells in the bone marrow, liver, spleen, brain, and kidneys. Signs and symptoms include hepatomegaly, splenomegaly, neurologic disorders, lymphadenopathy, skeletal disorders, anemia and thrombocytopenia.
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 |
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| label |
Gaucher Disease
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| Legacy Concept Name |
Gaucher_Disease
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| Preferred_Name |
Gaucher Disease
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| prefixIRI |
NCIT:C61268
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| prefLabel |
Gaucher Disease
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| Semantic_Type |
Disease or Syndrome
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| UMLS_CUI |
C0017205
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| subClassOf |
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