MedGen Find_IDs Find_Terms Annotation
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created at 2024-09-19 07:43:07 UTC
updated at 2024-09-23 11:52:02 UTC
MedGen entries
624,946 entries
Label
Id
Deficiency of acetyl-coenzyme A acetyltransferase https://www.ncbi.nlm.nih.gov/medgen/C1536500
Alpha methylacetoacetic aciduria https://www.ncbi.nlm.nih.gov/medgen/C1536500
Acetoacetyl-CoA thiolase deficiency https://www.ncbi.nlm.nih.gov/medgen/C1536500
Alpha-methyl-acetoacetyl-CoA thiolase deficiency https://www.ncbi.nlm.nih.gov/medgen/C1536500
Beta ketothiolase deficiency https://www.ncbi.nlm.nih.gov/medgen/C1536500
peroxisomal thiolase deficiency https://www.ncbi.nlm.nih.gov/medgen/C1536500
mitochondrial acetoacetyl-CoA thiolase deficiency https://www.ncbi.nlm.nih.gov/medgen/C1536500
mitochondrial acetoacetyl-Coa thiolase deficiency https://www.ncbi.nlm.nih.gov/medgen/C1536500
Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated https://www.ncbi.nlm.nih.gov/medgen/C1536500