FNS-Harmony

Last uploaded: November 2, 2023
Preferred Name

Gaucher's disease type II

Synonyms
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.

ID

http://purl.obolibrary.org/obo/DOID_0110958

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.

imported from

http://purl.obolibrary.org/obo/doid.owl

label

Gaucher's disease type II

prefixIRI

DOID:0110958

prefLabel

Gaucher's disease type II

subClassOf

http://purl.obolibrary.org/obo/DOID_1926

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