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National Cancer Institute Thesaurus
Last uploaded:
February 23, 2024
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| Preferred Name | Zellweger Syndrome | |
| Synonyms |
Zellweger Syndrome |
|
| Definitions |
A rare group of autosomal recessive inherited disorders characterized by the reduction or absence of peroxisomes in the tissues. Signs and symptoms include increased levels of iron and copper in the blood and tissues, hepatomegaly, facial abnormalities, mental retardation, seizures, and hypotonia. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85239 |
|
| code |
C85239
|
|
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 |
|
| Contributing_Source |
Cellosaurus NICHD
|
|
| DEFINITION |
A rare group of autosomal recessive inherited disorders characterized by the reduction or absence of peroxisomes in the tissues. Signs and symptoms include increased levels of iron and copper in the blood and tissues, hepatomegaly, facial abnormalities, mental retardation, seizures, and hypotonia.
|
|
| FULL_SYN |
Zellweger Syndrome
|
|
| label |
Zellweger Syndrome
|
|
| Preferred_Name |
Zellweger Syndrome
|
|
| prefixIRI |
Thesaurus:C85239
|
|
| Semantic_Type |
Disease or Syndrome
|
|
| UMLS_CUI |
C0043459
|
|
| subClassOf |
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