Term Name: Schindler disease
Synonyms: alpha-N-acetylgalactosaminidase deficiency, NAGA deficiency
Definition: A lysosomal storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2.
Ontology: Human Disease [DOID:0112317]   ( DOID:0112317 )

Relationships
is a type of: autosomal recessive disease lysosomal storage disease
has subtype: Kanzaki disease Schindler disease type 1 Schindler disease type 3