Medical Subject Headings / 医学主题词表

Last uploaded: September 7, 2023

Preferred Name	Hawkinsinuria
Synonyms	4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency
ID	http://purl.bioontology.org/ontology/MESH/C535845
altLabel	4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency
cui	C2931042
Has mapping qualifier	http://purl.bioontology.org/ontology/MESH/Q000172
HM	D006899/Q000172 D020176
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D020176 http://purl.bioontology.org/ontology/MESH/D006899
MDA	20100825
MeSH Frequency	5
MMR	20131106
notation	C535845
prefLabel	Hawkinsinuria
SC	3
TERMUI	T737409 T737410
TH	ORD (2010) OMIM (2013)
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/OMIM/140350	Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库	CUI
http://purl.bioontology.org/ontology/OMIM/140350	Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库	LOOM
http://purl.obolibrary.org/obo/MONDO_0007700	Mondo Disease Ontology / Mondo疾病本体	LOOM
http://purl.obolibrary.org/obo/MONDO_0007700	Experimental Factor Ontology / 实验性因素本体	LOOM
http://purl.obolibrary.org/obo/DOID_0111362	Human Disease Ontology / 人类疾病本体	LOOM
http://www.orpha.net/ORDO/Orphanet_2118	Orphanet Rare Disease Ontology / Orphanet罕见病本体	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU017978	Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU017978	Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库	LOOM
http://purl.obolibrary.org/obo/HP_0034457	Human Phenotype Ontology / 人类表型本体	LOOM
http://purl.bioontology.org/ontology/OMIM/609695	Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库	CUI