Medical Subject Headings

Last uploaded: January 31, 2024

Preferred Name	Chromosome 22q11.2 Microduplication Syndrome
Synonyms	22q11.2 Duplication
ID	http://purl.bioontology.org/ontology/MESH/C567224
altLabel	22q11.2 Duplication Chromosome 22q11.2 Duplication Syndrome
cui	C2675369
HM	D002892 D000015 D058674 D004062
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D002892 http://purl.bioontology.org/ontology/MESH/D000015 http://purl.bioontology.org/ontology/MESH/D004062 http://purl.bioontology.org/ontology/MESH/D058674
MDA	20121105
MeSH Frequency	47
MMR	20131024
notation	C567224
prefLabel	Chromosome 22q11.2 Microduplication Syndrome
SC	3
TERMUI	T840754 T809991 T809992
TH	OMIM (2013) GHR (2014)
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/OMIM/608363	OMIM	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/699311001	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SCTSPA/699311001	SCTSPA	CUI
http://purl.obolibrary.org/obo/MONDO_0012020	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0012020	MONDO	LOOM
http://purl.obolibrary.org/obo/DOID_0060436	DOID	LOOM
http://purl.obolibrary.org/obo/MONDO_0012020	DOVES	LOOM
http://purl.obolibrary.org/obo/DOID_0060436	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0060436	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0060436	FNS-H	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C567224	RH-MESH	LOOM