loading...| Preferred Name |
sitosterolemia |
| Synonyms |
phytosterolemia |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0090019 |
| database_cross_reference |
UMLS_CUI:C0342907 MESH:C537345 SNOMEDCT_US_2022_09_01:238104009 OMIM:210250 GARD:7653 NCI:C125694 ORDO:2882 |
| 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. |
| has exact synonym |
phytosterolemia |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0090019 |
| in_subset | |
| label |
sitosterolemia |
| notation |
DOID:0090019 |
| prefLabel |
sitosterolemia |
| subClassOf |