OBO ID: DOID:0080678
Term Name: mucolipidosis III gamma Search Ontology:
Synonyms:
Definition: A mucolipidosis that has_material_basis_in mutation in the gene encoding the gamma subunit of N-acetylglucosamine-1-phosphotransferase and that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay. https://pubmed.ncbi.nlm.nih.gov/10712439/
References:
Ontology: Human Disease   (DOID:0080678)
OTHER mucolipidosis III gamma PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GNPTG Mucolipidosis III gamma 252605
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None