| Metadata | |
|---|---|
| ID | DOID:0111391 |
| Name | mucopolysaccharidosis IVA |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/18412124, https://www.ncbi.nlm.nih.gov/pubmed/7607677 |
| Xrefs |
SNOMEDCT_US_2023_03_01:7259005 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
GALNS deficiency [EXACT] Morquio A disease [EXACT] Morquio syndrome A [EXACT] MPS IVA [EXACT] MPS4A [EXACT] |
| Parent Relationships |