3-hydroxy-3-methylglutaryl-CoA Synthase Deficiency
| Disease Aliases (9) | 3-hydroxy-3-methylglutaryl-coa synthase 2 deficiency 3-hydroxy-3-methylglutaryl-coa synthase deficiency 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency; hmgcs2d Hmg coa synthetase deficiency Hmg-coa synthase deficiency Hmgcs2 deficiency Hmgcs2d Mitochondrial hmg-coa synthase deficiency |
Associated Genes (1) NCBI-RefSeq: HMGCS2 (3-hydroxy-3-methylglutaryl-CoA synthase 2) External Links: gnomAD browser Ensembl GeneCards
| |||||||
| Cross-references of 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |