Search Ontology:
Human Disease
sitosterolemia
- Term ID
- DOID:0090019
- Synonyms
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- phytosterolemia
- 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. (4)
- References
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- GARD:7653
- MESH:C537345
- MIM:PS210250
- NCI:C125694
- ORDO:2882
- SNOMEDCT_US_2023_03_01:238104009
- UMLS_CUI:C0342907
- Ontology
- Human Disease ( DOID:0090019 )
- is a type of
-
- has subtype
-
Other Pages
Genes Involved
Zebrafish Models