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Summary Literature (1)
DOID:0080071 - mucolipidosis III alpha/beta

Disease Ontology Definition:A mucolipidosis that has_material_basis_in mutation in the gene encoding the alpha/beta-subunits precursor gene of GLcNAc-phosphotransferase.

Synonyms: mucolipidosis III , pseudo-Hurler polydystrophy,

Xenbase Genes : gnptg, gnptab

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0018931 - mucolipidosis type III

OMIM:
OMIM:252600 - MUCOLIPIDOSIS III ALPHA/BETA
OMIM:252605 - MUCOLIPIDOSIS III GAMMA

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), lysosomal storage disease (is_a)