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DOID:0080070 - mucolipidosis II alpha/beta
Disease Ontology Definition:A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay, caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates, and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTAB gene.
Synonyms: I-cell disease, mucolipidosis II, inclusion-cell disease
Echinobase Genes
:
gnptab
| MIM:252500 - mucolipidosis ii alpha/beta |
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)