| Metadata | |
|---|---|
| ID | DOID:0090019 |
| Name | sitosterolemia 1 |
| Definition | An intestinal disease that is characterized by autosomal recessive inheritance of unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, premature atherosclerosis, and hemolytic anemia with stomatocytosis and macrothrombocytopenia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG8 gene or in the ABCG5 gene, both of which are located on chromosome 2p21. https://www.ncbi.nlm.nih.gov/pubmed/11099417, https://www.ncbi.nlm.nih.gov/pubmed/11138003 |
| Xrefs |
SNOMEDCT_US_2023_03_01:238104009 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
phytosterolemia [EXACT] |
| Parent Relationships |
is_a intestinal disease |