JSON

trisomy X

^ http://purl.obolibrary.org/obo/MONDO_0018066

Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). [ Orphanet:3375 ]

Term info

database cross reference
  • MESH:C535318 (MONDO:equivalentTo)
  • GARD:0005672 (MONDO:equivalentTo)
  • NCIT:C129718 (MONDO:equivalentTo)
  • Orphanet:3375 (MONDO:equivalentTo)
  • UMLS:C0221033 (Orphanet:3375/e)
  • SCTID:35111009 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_malformation_syndrome

definition

Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX).

exactMatch

http://purl.obolibrary.org/obo/NCIT_C129718, http://identifiers.org/mesh/C535318, http://identifiers.org/snomedct/35111009, http://linkedlifedata.com/resource/umls/id/C0221033, http://purl.obolibrary.org/obo/Orphanet_3375

has exact synonym

triple X syndrome, Triplo-X syndrome, XXX syndrome, 47,XXX, trisomy X, trisomy type X, 47,XXX syndrome

has related synonym

triple-X female, triple-X chromosome syndrome, Triplo X syndrome, 47 XXX syndrome

id

MONDO:0018066

seeAlso

https://rarediseases.info.nih.gov/diseases/5672/47-xxx-syndrome