Medical Subject Headings / 医学主题词表

Last uploaded: September 7, 2023

Preferred Name	Phosphoglycerate Kinase 1 Deficiency
Synonyms	PGK Deficiency
ID	http://purl.bioontology.org/ontology/MESH/C567067
altLabel	PGK Deficiency Phosphoglycerate Kinase Deficiency PGK1 Deficiency
cui	C1970848
Has mapping qualifier	http://purl.bioontology.org/ontology/MESH/Q000172
HM	D040181 D008661 D010735/Q000172
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D010735 http://purl.bioontology.org/ontology/MESH/D040181 http://purl.bioontology.org/ontology/MESH/D008661
MDA	20121105
MeSH Frequency	18
MMR	20131024
notation	C567067
prefLabel	Phosphoglycerate Kinase 1 Deficiency
SC	3
Scope Statement	mutation in PGK1
TERMUI	T844608 T842275 T826463 T809699
TH	OMIM (2013) GHR (2014)
tui	T047

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0111933	Human Disease Ontology / 人类疾病本体	LOOM
http://purl.bioontology.org/ontology/OMIM/300653	Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库	CUI
http://purl.bioontology.org/ontology/OMIM/300653	Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C126738	National Cancer Institute Thesaurus / 美国国家癌症研究所词典	LOOM