Preferred Name |
Peroxisomal Disorder |
|
Synonyms |
Peroxisomal Function Disorder Disorder of Peroxisomal Function Peroxisomal Disorder |
|
Definitions |
A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, mental retardation, facial abnormalities, hepatomegaly, and hypotonia. |
|
ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85005 |
|
code |
C85005 |
|
Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977 |
|
Contributing_Source |
CTRP NICHD |
|
DEFINITION |
A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, mental retardation, facial abnormalities, hepatomegaly, and hypotonia. |
|
Display_Name |
Peroxisomal Disorder |
|
FULL_SYN |
Peroxisomal Function Disorder Disorder of Peroxisomal Function Peroxisomal Disorder |
|
label |
Peroxisomal Disorder |
|
Preferred_Name |
Peroxisomal Disorder |
|
prefixIRI |
Thesaurus:C85005 |
|
Semantic_Type |
Disease or Syndrome |
|
UMLS_CUI |
C0282528 |
|
subClassOf |