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Echinobase
Summary Literature (0)
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 , mucolipidosis III, pseudo-Hurler polydystrophy

Echinobase Genes : gnptab


MIM:
MIM:252600 - mucolipidosis iii alpha/beta
MIM:252605 - mucolipidosis iii gamma

Other Model Organisms: Alliance, 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), mucolipidosis (is_a)