Search Ontology:
Human Disease
Gaucher's disease type III
- Term ID
- DOID:0110959
- Synonyms
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- Gaucher Disease, Chronic Neuronopathic Type
- Gaucher Disease, Juvenile And Adult, Cerebral
- Gaucher Disease, Subacute Neuronopathic Type
- GD III
- Definition
- A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. (2)
- References
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- ICD10CM:E75.2
- MIM:231000
- ORDO:77261
- Ontology
- Human Disease ( DOID:0110959 )
- is a type of
-
- has subtype
-
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