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FNS-Harmony
Last uploaded:
November 2, 2023
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| Preferred Name | Gaucher's disease type II | |
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| Definitions |
A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in an autosomal recessive mutation of GBA on chromosome 1q22. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0110958 |
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| definition |
A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in an autosomal recessive mutation of GBA on chromosome 1q22.
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| label |
Gaucher's disease type II
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| prefixIRI |
DOID:0110958
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| prefLabel |
Gaucher's disease type II
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