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mixed gonadal dysgenesis

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,xx; 45,X/46,xx/47,xxx; 46,xxp-; 45,X/46,xy; 45,X/47,xyy; 46,xypi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,xx or 46,xy constitution.
Mondo Term and Equivalent IDs
MONDO:0001969:  mixed gonadal dysgenesis
GARD:0002539: 
MESH:D006060: 
SCTID:83579008: 
UMLS:C0018055: