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 ) |