loading...| Preferred Name |
Lysosomal Storage Disease |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61250 |
| ALT_DEFINITION |
Disorder caused by defects in the function of the lysosomes resulting in the presence of small clear vacuoles containing phospholipids within the cytoplasm of various cells. (INHAND) |
| code |
C61250 |
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61410 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118168 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C120531 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 |
| Contributing_Source |
NICHD CDISC CTRP |
| DEFINITION |
A group of autosomal recessive or X-linked inherited metabolic disorders caused by defects in the function of the lysosomes. Signs and symptoms include hepatomegaly, splenomegaly, nervous system manifestations, skeletal abnormalities, and mental deterioration. Representative examples include Gaucher disease, Niemann-Pick disease, Wolman disease, and Fabry disease. |
| Display_Name |
Lysosomal Storage Disease |
| FULL_SYN |
PHOSPHOLIPIDOSIS Lysosomal Storage Disease Lysosomal Storage Disorder Disorder of Lysosomal Enzymes |
| label |
Lysosomal Storage Disease |
| Legacy Concept Name |
Lysosomal_Storage_Disease |
| Preferred_Name |
Lysosomal Storage Disease |
| prefixIRI |
Thesaurus:C61250 |
| prefLabel |
Lysosomal Storage Disease |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0085078 |
| subClassOf |