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
MAT DEFICIENCY https://www.ncbi.nlm.nih.gov/medgen/C1536500
Mat deficiency https://www.ncbi.nlm.nih.gov/medgen/C1536500
T2 DEFICIENCY https://www.ncbi.nlm.nih.gov/medgen/C1536500
T2 Deficiency https://www.ncbi.nlm.nih.gov/medgen/C1536500
T2 deficiency https://www.ncbi.nlm.nih.gov/medgen/C1536500
alpha-Methylacetoacetic aciduria https://www.ncbi.nlm.nih.gov/medgen/C1536500
beta-ketothiolase deficiency https://www.ncbi.nlm.nih.gov/medgen/C1536500
Mitochondrial acetoacetyl-coenzyme A thiolase deficiency https://www.ncbi.nlm.nih.gov/medgen/C1536500
mitochondrial acetoacetyl-coenzyme A 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
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
Deficiency of acetoacetyl-CoA thiolase https://www.ncbi.nlm.nih.gov/medgen/C1536500
Deficiency of acetyl-CoA acetyltransferase https://www.ncbi.nlm.nih.gov/medgen/C1536500