OBO ID: DOID:0111391 |
Term Name: | mucopolysaccharidosis IVA | Search Ontology: | |
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Definition: | A mucopolysaccharidosis IV characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate resulting in short stature, skeletal dysplasia, dental anomalies, and corneal clouding that has_material_basis_in homozygous or compound heterozygous mutation in the GALNS gene on chromosome 16q24.3. (2) | ||
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Ontology: | Human Disease ( DOID:0111391 ) |
OTHER mucopolysaccharidosis IVA PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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