FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term mucolipidosis III gamma ID (Ontology) DOID:0080678 (Human Disease)
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.
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 Genes
 mucolipidosis III gamma       1
 for disease ribbon | mucolipidosis III gamma       1
 model of | mucolipidosis III gamma       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
lipid storage disease            |
 |__mucolipidosis________________|
                                 mucolipidosis III gamma  1 rec.
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Is a autosomal recessive disease
mucolipidosis
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MESH:C565367
MIM:252605
ORDO:423470