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mucolipidosis III gamma
Summary
- 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.
- Super Class
- autosomal recessive disease mucolipidosis
External Links
- Disease Ontology
- DOID:0080678
- Mondo Disease Ontology
- MeSH
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UJJ9 | N-acetylglucosamine-1-phosphotransferase subunit gamma |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002857 | Genu valgum |
| HP:0001256 | Intellectual disability, mild |
| HP:0007759 | Opacification of the corneal stroma |
| HP:0000545 | Myopia |
| HP:0003370 | Flat capital femoral epiphysis |
| HP:0001763 | Pes planus |
| HP:0000280 | Coarse facial features |
| HP:0003307 | Hyperlordosis |
| HP:0001650 | Aortic valve stenosis |
| HP:0003621 | Juvenile onset |
