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Echinobase
Summary Literature (0)
DOID:3343 - glycoproteinosis

Disease Ontology Definition:A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase).

Synonyms: Mucolipidosis type I, sialidosis

Echinobase Genes : neu1


MIM:
MIM:256550 - neuraminidase deficiency

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

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