Phenotype Library | Search Phenotypes

Pentasomy X (MONDO:0015228)

Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX).

Overview

Category

Ontology ID

Internal:16119

Synonyms

49, XXXXX syndrome

49,XXXXX syndrome

Penta X Syndrome

Pentasomy type X

XXXXX syndrome

penta X syndrome

penta-X

poly-X

Pentasomy X syndrome

chromosome X pentasomy

chromosome XXXXX syndrome

penta-X syndrome

Mapped terms

GARD:0005678

MEDGEN:423649

MESH:C535319

NCIT:C89802

NORD:1565

Orphanet:11

SCTID:43248007

UMLS:C2937419

icd11.foundation:2087864894

Child terms

Unknown children.