General Information of Disease (ID: DISPSIAN)

Disease Name Chromosome 17p deletion
Synonyms
chromosome 17p deletion syndrome; loss of chromosome 17p; 17p monosomy; deletion 17p syndrome; interstitial deletion 17p; monosomy 17p; 17p deletion; 17p- syndrome; del(17p); partial monosomy 17p; deletion 17p; partial deletion of the short arm of chromosome 17; partial monosomy of the short arm of chromosome type 17; chromosome 17p deletion; partial monosomy of chromosome 17p; partial deletion of chromosome 17p; partial monosomy of the short arm of chromosome 17
Definition A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 17.
Disease Hierarchy
DISNEBIX: Partial deletion of chromosome 17
DIS1DD8C: Syndrome caused by partial chromosomal deletion
DISPSIAN: Chromosome 17p deletion
Disease Identifiers
MONDO ID
MONDO_0022754
UMLS CUI
C5679671
MedGen ID
1842221
Orphanet ID
261965