mucolipidosis III gamma
Information
- Disease name
- mucolipidosis III gamma
- Disease ID
- DOID:0080678
- Description
- "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." [url:https\://pubmed.ncbi.nlm.nih.gov/10712439/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0080488
- Cross Reference ID (Disease Ontology)
- MESH:C565367
- Cross Reference ID (Disease Ontology)
- MIM:252605
- Cross Reference ID (Disease Ontology)
- ORDO:423470