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National Cancer Institute Thesaurus
Last uploaded:
February 23, 2024
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| 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 |
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