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Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
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| Preferred Name | Zellweger Syndrome | |
| Synonyms |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C85239 |
|
| code |
C85239
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| Contributing_Source |
Cellosaurus NICHD
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|
| 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.
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 |
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| label |
Zellweger Syndrome
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| Preferred_Name |
Zellweger Syndrome
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| prefixIRI |
NCIT:C85239
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| prefLabel |
Zellweger Syndrome
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| Semantic_Type |
Disease or Syndrome
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| UMLS_CUI |
C0043459
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| subClassOf |
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