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Term ID: | 1778 |
Name: | Carnitine Acetyltransferase Deficiency |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D001259|MESH:D003221|MESH:D008661|MESH:D009123|MESH:D015840 |
TreeNumbers: | C10.292.562.700/C563249 |C10.292.600/C563249 |C10.597.350.090/C563249 |C10.597.606.337/C563249 |C10.597.613.575/C563249 |C11.590.436/C563249 |C16.320.565/C563249 |C18.452.648/C563249 |C23.888.592.350.090/C563249 |C23.888.592.604.339/C563249 |C23.888.592.608.575/C5 |
Synonyms: | |
Slim Mappings: | Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Signs and symptoms |
Reference: |
MedGen: C563249
MeSH: C563249
OMIM:
Genes: | Phenotypes | | Disease Causing ClinVar Variants | |
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