Chromosomal disorder consisting of the presence a chromosomal abnormality in which there is an addition or loss of chromosomes within a set. [ NCIT:C2873 http://www.ncbi.nlm.nih.gov/pubmed/26126276 https://orcid.org/0000-0002-4142-7153 ]
Synonyms: chromosome number anomaly
Term information
- NCIT:C2873 (MONDO:equivalentTo)
- MESH:D000782 (https://orcid.org/0000-0003-1967-3726)
- UMLS:C0002938 (MONDO:equivalentTo)
- MEDGEN:294 (MONDO:equivalentTo)
gard_rare, otar, rare
http://identifiers.org/mesh/D000782
http://purl.obolibrary.org/obo/NCIT_C2873
http://linkedlifedata.com/resource/umls/id/C0002938
http://identifiers.org/medgen/294