Term info
database cross reference
- NCIT:C36497 (MONDO:relatedTo)
- GARD:0001738 (MONDO:equivalentTo)
- Orphanet:262101 (MONDO:equivalentTo)
- MESH:C535449 (MONDO:equivalentTo)
Subsets
gard_rare, disease_grouping, ordo_group_of_disorders
IAO 0000233
https://github.com/monarch-initiative/mondo/issues/3664
definition
A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 13.
exactMatch
http://identifiers.org/mesh/C535449, http://purl.obolibrary.org/obo/Orphanet_262101
has exact synonym
partial deletion of the long arm of chromosome type 13, partial monosomy of chromosome 13q, partial monosomy of the long arm of chromosome 13, partial deletion of chromosome 13q
has related synonym
monosomy 13q, deletion 13q, del(13q), 13q monosomy, loss of chromosome 13q, 13q deletion, chromosome 13q deletion
id
MONDO:0016911
relatedMatch
http://purl.obolibrary.org/obo/NCIT_C36497