Medical Subject Headings / 医学主题词表

Last uploaded: September 7, 2023
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/D004062

http://purl.bioontology.org/ontology/MESH/D000015

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

T809991

T840754

T809992

TH

OMIM (2013)

GHR (2014)

tui

T047

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http://purl.obolibrary.org/obo/DOID_0060436 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0012020 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0012020 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/OMIM/608363 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI