Medical Subject Headings / 医学主题词表

Last uploaded: September 7, 2023

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	12
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 / 通路本体	LOOM
http://purl.bioontology.org/ontology/OMIM/212138	Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库	CUI
http://purl.bioontology.org/ontology/OMIM/212138	Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库	LOOM
http://purl.bioontology.org/ontology/OMIM/613698	Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库	CUI
http://www.orpha.net/ORDO/Orphanet_159	Orphanet Rare Disease Ontology / Orphanet罕见病本体	LOOM
http://purl.obolibrary.org/obo/MONDO_0008918	Mondo Disease Ontology / Mondo疾病本体	LOOM
http://purl.obolibrary.org/obo/MONDO_0008918	Experimental Factor Ontology / 实验性因素本体	LOOM
http://purl.bioontology.org/ontology/LNC/LA12475-2	Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码	CUI
http://purl.bioontology.org/ontology/LNC/LA12475-2	Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C133086	National Cancer Institute Thesaurus / 美国国家癌症研究所词典	LOOM
http://purl.obolibrary.org/obo/DOID_0111585	Human Disease Ontology / 人类疾病本体	LOOM