Version: 8.0.0
Date: Tue Jan 28 2025
mucolipidosis II alpha/beta
DOID:0080070
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

mucolipidosis II alpha/beta

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
  • inclusion-cell disease
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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      Associated Models

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