mucopolysaccharidosis IVA
E2210250
UNEXPLORED
Mucopolysaccharidosis IVA (Morquio A syndrome) is a rare inherited lysosomal storage disorder characterized by deficient degradation of certain glycosaminoglycans, leading to progressive skeletal abnormalities and other systemic complications.
All labels observed (1)
| Label | Occurrences |
|---|---|
| mucopolysaccharidosis IVA canonical | 1 |
Referenced by (1)
Full triples — surface form annotated when it differs from this entity's canonical label.