| Metadata | |
|---|---|
| ID | DOID:0090019 |
| Name | sitosterolemia |
| Definition | An intestinal disease with autosomal recessive inheritance characterized by 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. https://www.ncbi.nlm.nih.gov/books/NBK572142/, https://www.ncbi.nlm.nih.gov/pubmed/11138003, https://medlineplus.gov/genetics/condition/sitosterolemia/, https://www.ncbi.nlm.nih.gov/pubmed/11099417 |
| Xrefs |
SNOMEDCT_US_2023_03_01:238104009 |
| SKOS |
exactMatch GARD:7653 exactMatch NCI:C125694 exactMatch ORDO:2882 exactMatch UMLS_CUI:C0342907 exactMatch MESH:C537345 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
phytosterolemia [EXACT] |
| Parent Relationships |
is_a intestinal disease |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |