Disease association ontology term - MONDO:0019249 - mucopolysaccharidosis
Term summary
- ID
- MONDO:0019249
- Name
- mucopolysaccharidosis
- Ontology or CV name
- Disease association
- Definition
- A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies.
