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DO Term : carnitine palmitoyltransferase II deficiency [DOID:0060235] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria.

synonyms:
255110,
OMIM:600649,
infantile carnitine palmitoyltransferase II deficiency,
NCI:C114766,
MESH:C535589,
OMIM:608836,
UMLS_CUI:C0342790,
lethal neonatal carnitine palmitoyltransferase II deficiency,
OMIM:255110,
SNOMEDCT_US_2023_03_01:238002005,
600649,
ORDO:157,
CPT-II,
608836,
late-onset carnitine palmitoyltransferase II deficiency

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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