Disease Aliases (19) | Cbs deficiency Cbs deficiencies Cystathionine beta-synthase deficiency Cystathionine beta synthase deficiency Cystathionine beta synthase deficiency disease Cystathionine beta-synthase deficiency disease Deficiencies, cbs Deficiency disease, cystathionine beta synthase Deficiency disease, cystathionine beta-synthase Deficiency of beta-thionase Deficiency of methylcysteine synthase Deficiency of serine sulfhydrase Deficiency, cbs Homocystinuria with or without response to pyridoxine Hyperhomocysteinemia, thrombotic, cbs-related Homocystinuria caused by cystathionine beta-synthase deficiency Homocystinuria due to cbs deficiency Homocystinuria due to cystathionine beta-synthase deficiency |
Associated Genes (1) NCBI-RefSeq: CBS (Cystathionine beta-synthase) External Links: gnomAD browser Ensembl GeneCards
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Cross-references of Classic homocystinuria | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations |