Medical Subject Headings / 医学主题词表

Last uploaded: September 7, 2023

Preferred Name	Neurofibromatosis-Noonan syndrome
Synonyms	Noonan-Neurofibromatosis Syndrome
ID	http://purl.bioontology.org/ontology/MESH/C537393
altLabel	Noonan-Neurofibromatosis Syndrome Noonan neurofibromatosis syndrome Neurofibromatosis with Noonan phenotype
cui	C2931482
HM	D009634 D017253
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D009634 http://purl.bioontology.org/ontology/MESH/D017253
MDA	20100825
MeSH Frequency	10
MMR	20120824
notation	C537393
prefLabel	Neurofibromatosis-Noonan syndrome
SC	3
TERMUI	T742444 T811323 T742447 T742446
TH	ORD (2010) OMIM (2013)
tui	T047

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0011035	Mondo Disease Ontology / Mondo疾病本体	LOOM
http://purl.obolibrary.org/obo/MONDO_0011035	Experimental Factor Ontology / 实验性因素本体	LOOM
http://purl.obolibrary.org/obo/DOID_0111683	Human Disease Ontology / 人类疾病本体	LOOM
http://purl.bioontology.org/ontology/OMIM/601321	Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库	CUI
http://purl.bioontology.org/ontology/OMIM/601321	Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库	LOOM
http://www.orpha.net/ORDO/Orphanet_638	Orphanet Rare Disease Ontology / Orphanet罕见病本体	LOOM
http://purl.bioontology.org/ontology/OMIM/613113	Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库	CUI