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#C61410 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C120531 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 |
| Contributing_Source |
CDISC NICHD |
| 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. |
| FULL_SYN |
Disorder of Lysosomal Enzymes Lysosomal Storage Disorder PHOSPHOLIPIDOSIS |
| Has_NICHD_Parent | |
| label |
Lysosomal Storage Disease |
| Legacy_Concept_Name |
Lysosomal_Storage_Disease |
| NICHD_Hierarchy_Term |
Lysosomal Storage Disorder |
| Preferred_Name |
Lysosomal Storage Disease |
| prefixIRI |
C61250 |
| prefLabel |
Lysosomal Storage Disease |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0085078 |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/DOID_3211 | Human Disease Ontology 123 | LOOM |