Medical Subject Headings / 医学主题词表

Last uploaded: September 7, 2023

Preferred Name	Kniest dysplasia
Synonyms	Kniest Chondrodystrophy
ID	http://purl.bioontology.org/ontology/MESH/C537207
altLabel	Kniest Chondrodystrophy Kniest Syndrome Swiss Cheese Cartilage Dysplasia
cui	C0265279
Has mapping qualifier	abnormalities
HM	D005145/Q000002 D010009 D003095 D004392 D002972 D006819
Inverse of RB	0
Mapped to	Cleft Palate Collagen Diseases Osteochondrodysplasias Face Hyaline Membrane Disease Dwarfism
MDA	20100825
MeSH Frequency	15
MMR	20131024
notation	C537207
prefLabel	Kniest dysplasia
SC	3
TERMUI	T841834 T841833 T741814 T841837
TH	ORD (2010) OMIM (2013) GHR (2014)
tui	T047

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
Kniest dysplasia	Mondo Disease Ontology / Mondo疾病本体	LOOM
Kniest dysplasia	Experimental Factor Ontology / 实验性因素本体	LOOM
http://purl.obolibrary.org/obo/DOID_0080045	BioAssay Ontology / 生物活性分析本体	LOOM
http://purl.obolibrary.org/obo/DOID_0080045	Human Disease Ontology / 人类疾病本体	LOOM
http://purl.bioontology.org/ontology/OMIM/156550	Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库	CUI
http://purl.bioontology.org/ontology/OMIM/156550	Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库	LOOM
http://purl.bioontology.org/ontology/OMIM/120140	Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库	CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C125594	National Cancer Institute Thesaurus / 美国国家癌症研究所词典	LOOM
http://www.orpha.net/ORDO/Orphanet_485	Orphanet Rare Disease Ontology / Orphanet罕见病本体	LOOM