Term Name: mucolipidosis III alpha/beta
Synonyms: mucolipidosis III, pseudo-Hurler polydystrophy
Definition: A mucolipidosis that has_material_basis_in mutation in the gene encoding the alpha/beta-subunits precursor gene of GLcNAc-phosphotransferase.
Ontology: Human Disease [DOID:0080071]   ( DOID:0080071 )

Relationships
is a type of: autosomal recessive disease mucolipidosis