FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term carnitine palmitoyltransferase II deficiency ID (Ontology) DOID:0060235 (Human Disease)
Definition A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria.
Also Known As "CPT-II" ; "infantile carnitine palmitoyltransferase II deficiency" ; "late-onset carnitine palmitoyltransferase II deficiency" (for all, see Synonyms field below)
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Genes
 carnitine palmitoyltransferase II deficiency       1
 for disease ribbon | carnitine palmitoyltransferase II deficiency       1
 model of | carnitine palmitoyltransferase II deficiency       1
Spanning Tree (Parents/Children)
Only view relationship: 
  inherited metabolic disorder
   |__lipid metabolism disorder
       |__carnitine palmitoyltransferase II deficiency  1 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a lipid metabolism disorder
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "CPT-II" EXACT OMO:0003012
    "infantile carnitine palmitoyltransferase II deficiency" EXACT
    "late-onset carnitine palmitoyltransferase II deficiency" EXACT
    "lethal neonatal carnitine palmitoyltransferase II deficiency" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
MESH:C535589
MIM:255110
MIM:600649
MIM:608836
NCI:C114766
ORDO:157
SNOMEDCT_US_2023_03_01:238002005
UMLS_CUI:C0342790