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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:0000943 | Dysostosis multiplex |
| HP:0002808 | Kyphosis |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001659 | Aortic regurgitation |
| HP:0003333 | Increased serum beta-hexosaminidase |
| HP:0000470 | Short neck |
| HP:0004322 | Short stature |
| HP:0001249 | Intellectual disability |
| HP:0002829 | Arthralgia |
| HP:0008155 | Mucopolysacchariduria |
