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loading...| Preferred Name |
Sitosterolemia |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C125694 |
| code |
C125694 |
| DEFINITION |
An extremely rare autosomal recessive inherited disorder caused by mutations in the ABCG5 or ABCG8 genes. It is characterized by a defective sterolin transporter that impairs the elimination of plant sterols and, to a lesser degree, cholesterol from the body. These fatty substances build up in the tissues including arteries and skin, resulting in atherosclerosis and xanthomas. |
| label |
Sitosterolemia |
| Preferred_Name |
Sitosterolemia |
| prefixIRI |
C125694 |
| prefLabel |
Sitosterolemia |
| Semantic_Type |
Disease or Syndrome |
| subClassOf |