Preferred Name | Abetalipoproteinemia | |
Synonyms |
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ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Abetalipoproteinemia |
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DEFINITION |
An autosomal recessive disorder characterized by defective absorption of dietary fat, cholesterol and fat-soluble vitamins. It results in multiple vitamin deficiencies. Signs and symptoms include failure to thrive, diarrhea, steatorrhea, acanthocytosis and ataxia. |
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label |
Abetalipoproteinemia |
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prefixIRI |
Thesaurus:Abetalipoproteinemia |
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prefLabel |
Abetalipoproteinemia |
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subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Rare_Non-Neoplastic_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Lipid_Metabolism_Disorder |
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