loading...| Preferred Name |
mucopolysaccharidosis |
|
| Synonyms |
mucopolysaccharidoses mucopolysaccharidosis MPS |
|
| Definitions |
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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019249 |
|
| has_exact_synonym |
mucopolysaccharidoses mucopolysaccharidosis |
|
| has_related_synonym |
MPS |
|
| label |
mucopolysaccharidosis |
|
| prefixIRI |
MONDO:0019249 |
|
| prefLabel |
mucopolysaccharidosis |
|
| seeAlso |
https://rarediseases.info.nih.gov/diseases/7065/mucopolysaccharidosis |
|
| textual 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. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0002561 http://purl.obolibrary.org/obo/MONDO_0019214 http://purl.obolibrary.org/obo/MONDO_0015327 |