Medical Subject Headings

Last uploaded: November 5, 2019

Preferred Name	Carnitine-Acylcarnitine Translocase Deficiency
Synonyms	Carnitine-Acylcarnitine Carrier Deficiency
ID	http://purl.bioontology.org/ontology/MESH/C562812
altLabel	Carnitine-Acylcarnitine Carrier Deficiency Carnitine Acylcarnitine Translocase Deficiency CACT Deficiency
cui	C0342791
Has mapping qualifier	http://purl.bioontology.org/ontology/MESH/Q000172
HM	D002333/Q000172 D008052
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D002333 http://purl.bioontology.org/ontology/MESH/D008052
MDA	20121105
MeSH Frequency	7
MMR	20131024
notation	C562812
prefLabel	Carnitine-Acylcarnitine Translocase Deficiency
SC	3
Scope Statement	mutation in SLC25A20
TERMUI	T841074 T841073 T826377 T801573
TH	OMIM (2013) GHR (2014)
tui	T047

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/PW_0002506	Pathway Ontology	LOOM
http://purl.bioontology.org/ontology/OMIM/212138	Online Mendelian Inheritance in Man	CUI
http://purl.bioontology.org/ontology/OMIM/212138	Online Mendelian Inheritance in Man	LOOM
http://purl.bioontology.org/ontology/OMIM/613698	Online Mendelian Inheritance in Man	CUI
http://purl.bioontology.org/ontology/LNC/LA12475-2	Logical Observation Identifier Names and Codes	CUI
http://purl.bioontology.org/ontology/LNC/LA12475-2	Logical Observation Identifier Names and Codes	LOOM
http://purl.obolibrary.org/obo/DOID_0111585	Human Disease Ontology 123	LOOM