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Human Disease

mucolipidosis III gamma

Term ID
DOID:0080678
Synonyms
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/
References
Ontology
Human Disease   ( DOID:0080678 )
Relationships
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Genes Involved
Zebrafish Models