Sitosterolemia
| Disease Aliases (10) | Macrothrombocytopenia/stomatocytosis, mediterranean Macrothrombocytopenia-stomatocytosis, mediterranean Phytosterolemia Plant sterol storage disease Pseudohomozygous familial hypercholesterolemia Retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body Stsl Stsl1 Xanthomatosis with sisterolemia |
Associated Genes (2) NCBI-RefSeq: ABCG5 (ATP binding cassette subfamily G member 5) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: ABCG8 (ATP binding cassette subfamily G member 8) External Links: gnomAD browser Ensembl GeneCards
| |||||||
| Cross-references of Sitosterolemia | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |