Medical Subject Headings

Last uploaded: August 28, 2024

Preferred Name	Cerebrooculofacioskeletal Syndrome 2
Synonyms
ID	http://purl.bioontology.org/ontology/MESH/C565185
cui	C1853102
Has mapping qualifier	http://purl.bioontology.org/ontology/MESH/Q000151
HM	D001176 D019465 D002386/Q000151 D008607
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D019465 http://purl.bioontology.org/ontology/MESH/D001176 http://purl.bioontology.org/ontology/MESH/D008607 http://purl.bioontology.org/ontology/MESH/D002386
MDA	20121105
MeSH Frequency	0
MMR	20131106
notation	C565185
prefLabel	Cerebrooculofacioskeletal Syndrome 2
SC	3
Scope Statement	mutation in ERCC2 (XPD)
TERMUI	T806303
TH	OMIM (2013)
tui	T047

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/OMIM/126340	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/610756	OMIM	CUI
http://purl.obolibrary.org/obo/DOID_0080912	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0080912	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0080912	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_0080912	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0080912	FNS-H	LOOM
http://purl.obolibrary.org/obo/OMIM_610756	CCO	LOOM
http://purl.bioontology.org/ontology/OMIM/610756	OMIM	LOOM
http://purl.obolibrary.org/obo/MONDO_0012553	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0012553	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0012553	DOVES	LOOM
http://identifiers.org/omim/610756	REXO	LOOM
http://identifiers.org/omim/610756	GEXO	LOOM
http://identifiers.org/omim/610756	RETO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C565185	RH-MESH	LOOM