loading...| Preferred Name |
Mucopolysaccharidosis |
|
| Synonyms |
Mucopolysaccharidosis |
|
| 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, intellectual disabilities, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61259 |
|
| ALT_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 developmental delay, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies. |
|
| code |
C61259 |
|
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C167409 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 |
|
| Contributing_Source |
Cellosaurus ACC/AHA NICHD |
|
| 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, intellectual disabilities, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies. |
|
| FULL_SYN |
Mucopolysaccharidosis |
|
| label |
Mucopolysaccharidosis |
|
| Legacy Concept Name |
Mucopolysaccharidosis |
|
| Preferred_Name |
Mucopolysaccharidosis |
|
| prefixIRI |
Thesaurus:C61259 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0026703 |
|
| subClassOf |