Preferred Name |
Mucolipidosis |
|
Synonyms |
Mucolipidosis |
|
Definitions |
A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations. |
|
ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61267 |
|
code |
C61267 |
|
Concept_In_Subset | ||
Contributing_Source |
CTRP |
|
DEFINITION |
A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations. |
|
Display_Name |
Mucolipidosis |
|
FULL_SYN |
Mucolipidosis |
|
label |
Mucolipidosis |
|
Legacy Concept Name |
Mucolipidosis |
|
Preferred_Name |
Mucolipidosis |
|
prefixIRI |
Thesaurus:C61267 |
|
Semantic_Type |
Disease or Syndrome |
|
UMLS_CUI |
C0026697 |
|
subClassOf |
Create mapping