OBO ID: DOID:0080070
Term Name: mucolipidosis II alpha/beta Search Ontology:
Synonyms:
  • I-cell disease
  • inclusion-cell disease
  • mucolipidosis II
  • 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. (6)
References:
Ontology: Human Disease   (DOID:0080070)
OTHER mucolipidosis II alpha/beta PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GNPTAB Mucolipidosis II alpha/beta 252500
PHENOTYPE No data available

CITATIONS (4)