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Pediatric Terminology
Last uploaded:
January 25, 2013
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| Preferred Name | Zellweger_Syndrome | |
| Synonyms |
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| ID |
http://www.owl-ontologies.com/Ontology1358660052.owl#Zellweger_Syndrome |
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| ID |
C85239
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| NCI_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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| NCI_PT |
Zellweger Syndrome
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| NICHD_Definition |
_
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| prefixIRI |
Zellweger_Syndrome
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| prefLabel |
Zellweger_Syndrome
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| Subset_Association1 |
NICHD Pediatric Terminology
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| Subset_Association2 |
Neonatal Research Network Terminology
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| SYN | ||
| subClassOf |
http://www.owl-ontologies.com/Ontology1358660052.owl#Autosomal_Recessive_Hereditary_Disorder |
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