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Metadata
ID	DOID:0080678
Name	mucolipidosis III gamma
Definition	A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTG gene, which encodes the gamma subunit of N-acetylglucosamine-1-phosphotransferase, on chromosome 16p13. https://pubmed.ncbi.nlm.nih.gov/10712439/
Xrefs	MESH:C565367 MIM:252605 ORDO:423470
Subsets	DO_rare_slim
Parent Relationships	is_a autosomal recessive disease is_a mucolipidosis
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance