Medical Subject Headings / 医学主题词表

Last uploaded: September 7, 2023

Preferred Name	Potocki-Shaffer syndrome
Synonyms	Chromosome 11p11.2 Deletion Syndrome
ID	http://purl.bioontology.org/ontology/MESH/C538356
altLabel	Chromosome 11p11.2 Deletion Syndrome Deletion of chromosome 11p11.2 Defect11 Syndrome P11PDS Proximal 11P deletion syndrome Exostoses, Multiple, Type II
cui	C1832588 C1851413 C3714101
HM	D025063 D002872 D005097 D002880
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D002872 http://purl.bioontology.org/ontology/MESH/D025063 http://purl.bioontology.org/ontology/MESH/D005097 http://purl.bioontology.org/ontology/MESH/D002880
MDA	20100825
MeSH Frequency	14
MMR	20131024
notation	C538356
prefLabel	Potocki-Shaffer syndrome
SC	3
TERMUI	T802744 T823356 T826888 T745545 T745544 T802745 T745542
TH	ORD (2010) OMIM (2013) GHR (2014)
tui	T049 T047

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0111687	Human Disease Ontology / 人类疾病本体	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75456	National Cancer Institute Thesaurus / 美国国家癌症研究所词典	LOOM
http://purl.bioontology.org/ontology/OMIM/608210	Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库	CUI
http://purl.obolibrary.org/obo/MONDO_0011022	Mondo Disease Ontology / Mondo疾病本体	LOOM
http://purl.obolibrary.org/obo/MONDO_0011022	Experimental Factor Ontology / 实验性因素本体	LOOM
http://www.orpha.net/ORDO/Orphanet_52022	Orphanet Rare Disease Ontology / Orphanet罕见病本体	LOOM
http://purl.bioontology.org/ontology/OMIM/133701	Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库	CUI
http://purl.bioontology.org/ontology/OMIM/601224	Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库	CUI
http://purl.bioontology.org/ontology/OMIM/601224	Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库	LOOM