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mucolipidosis III gamma
Summary
- Definition
- A mucolipidosis that has_material_basis_in mutation in the gene encoding the gamma subunit of N-acetylglucosamine-1-phosphotransferase and that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay.
- Super Class
- autosomal recessive disease mucolipidosis
External Links
- Disease Ontology
- DOID:0080678
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001387 | Joint stiffness |
| HP:0002869 | Flared iliac wing |
| HP:0000768 | Pectus carinatum |
| HP:0003538 | Increased iduronate sulfatase level |
| HP:0002650 | Scoliosis |
