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DO Term : Gaucher's disease type IIIC [DOID:0112250] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22.

synonyms:
cardiovascular Gaucher disease,
ORDO:2072,
231005,
Gaucher-like disease,
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,
Gaucher disease type 3C,
OMIM:231005,
GD3C

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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