Terminology Service for NFDI4Health
syndrome caused by partial chromosomal duplication
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http://purl.obolibrary.org/obo/MONDO_0000762
A chromosomal disorder consisting of the presence of a part of a chromosome in more copies than in a regular genome. [ https://orcid.org/0000-0002-4142-7153 ]
Term info
Label
syndrome caused by partial chromosomal duplication
comment
This term includes partial trisomy (one additional copy of a chromosome part), and partial tetrasomy (2 additional copies of a chromosome part). Editor note: this is used in DOID to encompass typically partial duplications
exactMatch
http://purl.obolibrary.org/obo/DOID_0060429
has related synonym
chromosomal duplication syndrome
id
MONDO:0000762