loading...| Preferred Name |
Lysosomal Storage Disease |
|
| Synonyms |
PHOSPHOLIPIDOSIS Lysosomal Storage Disease Lysosomal Storage Disorder Disorder of Lysosomal Enzymes |
|
| Definitions |
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. |
|
| 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 |
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| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C77526 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61410 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C120531 |
|
| Contributing_Source |
CDISC CTRP 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. |
|
| 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 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0085078 |
|
| subClassOf |