OBO ID: DOID:0080678 |
Term Name: | mucolipidosis III gamma | Search Ontology: | |
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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. https://pubmed.ncbi.nlm.nih.gov/10712439/ | ||
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Ontology: | Human Disease ( DOID:0080678 ) |
OTHER mucolipidosis III gamma PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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