Medical Subject Headings

Last uploaded: August 28, 2024

Preferred Name	Cutis Gyrata Syndrome of Beare And Stevenson
Synonyms	Beare-Stevenson Cutis Gyrata Syndrome Cutis Gyrata Syndrome of Beare-Stevenson
ID	http://purl.bioontology.org/ontology/MESH/C565129
altLabel	Beare-Stevenson Cutis Gyrata Syndrome Cutis Gyrata Syndrome of Beare-Stevenson
cui	C1852406
Has mapping qualifier	http://purl.bioontology.org/ontology/MESH/Q000002
HM	D012536 D004423/Q000002 D003398 D000052 D012868
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D012536 http://purl.bioontology.org/ontology/MESH/D000052 http://purl.bioontology.org/ontology/MESH/D004423 http://purl.bioontology.org/ontology/MESH/D012868 http://purl.bioontology.org/ontology/MESH/D003398
MDA	20121105
MeSH Frequency	9
MMR	20131024
notation	C565129
prefLabel	Cutis Gyrata Syndrome of Beare And Stevenson
SC	3
Scope Statement	mutation in FGFR2
TERMUI	T806207 T830694 T840988
TH	OMIM (2013) GHR (2014)
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/OMIM/123790	OMIM	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/703528008	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SCTSPA/703528008	SCTSPA	CUI
http://purl.bioontology.org/ontology/OMIM/176943	OMIM	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/703528008	SNOMEDCT	LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14970	DERMLEX	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C565129	RH-MESH	LOOM