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Preferred Name

Carnitine acylcarnitine translocase deficiency
ID

http://purl.bioontology.org/ontology/LNC/LA12475-2
Answer to

http://purl.bioontology.org/ontology/LNC/57719-7

http://purl.bioontology.org/ontology/LNC/57720-5

http://purl.bioontology.org/ontology/LNC/57131-5

http://purl.bioontology.org/ontology/LNC/57792-4
cui

C0342791
notation

LA12475-2
prefLabel

Carnitine acylcarnitine translocase deficiency
tui

T047
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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://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
http://purl.bioontology.org/ontology/MESH/C562812 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C562812 Medical Subject Headings / 医学主题词表 LOOM