mucolipidosis III alpha/beta

Term ID

DOID:0080071

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. https://ghr.nlm.nih.gov/condition/mucolipidosis-iii-alpha-beta

References

• OMIM:252600
• ORDO:577

Ontology

Human Disease   ( DOID:0080071 )