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46 XX gonadal dysgenesis

Disease Summary
Associated Targets (8)
Tbio

6

Tclin

1

Tchem

1


Mondo Description 46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation.
Disease Ontology Description A gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female.
Mondo Term and Equivalent IDs
MONDO:0009299:  46 XX gonadal dysgenesis
DC:0000000: 
MESH:D023961: 
NCIT:C120197: 
OMIMPS:233300: 
Orphanet:243: 
SCTID:95198001: 
UMLS:C0949595: