FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term mucolipidosis II alpha/beta ID (Ontology) DOID:0080070 (Human Disease)
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.
Also Known As "I-cell disease" ; "inclusion-cell disease" ; "mucolipidosis II"
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 Genes
 mucolipidosis II alpha/beta       1
 for disease ribbon | mucolipidosis II alpha/beta       1
 model of | mucolipidosis II alpha/beta       1
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  lipid storage disease
   |__mucolipidosis
       |__mucolipidosis II alpha/beta  1 rec.
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Synonyms
  • "I-cell disease" EXACT
    "inclusion-cell disease" EXACT
    "mucolipidosis II" EXACT
Secondary IDs
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GARD:6749
MIM:252500