Preferred Name |
Peroxisomal Disorder |
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Synonyms |
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ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Peroxisomal_Disorder |
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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. |
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isDefinedBy |
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. |
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label |
Peroxisomal Disorder |
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prefixIRI |
Thesaurus:Peroxisomal_Disorder |
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prefLabel |
Peroxisomal Disorder |
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subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Inborn_Errors_of_Metabolism |
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