Term Name: atypical Gaucher's disease due to saposin c deficiency
Synonyms:
Definition: A Gaucher's disease that has_material_basis_in compound heterozygous mutation in the PSAP gene on chromosome 10q22.1.
Ontology: Human Disease [DOID:0110961]   ( DOID:0110961 )

Relationships
is a type of: Gaucher's disease