Preferred Name |
Mucolipidosis |
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 |
label |
Mucolipidosis |
Legacy_Concept_Name |
Mucolipidosis |
Preferred_Name |
Mucolipidosis |
prefixIRI |
C61267 |
prefLabel |
Mucolipidosis |
Semantic_Type |
Disease or Syndrome |
UMLS_CUI |
C0026697 |
subClassOf |