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Summary Literature (0)
DOID:14448 - 46 XY gonadal dysgenesis

Disease Ontology Definition:A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo.

Synonyms: 46,XY SEX REVERSAL, Pure gonadal dysgenesis 46,XY, Swyer syndrome

Echinobase Genes : map3k1

OMIM:300018 - 46,xy sex reversal 2; srxy2
OMIM:607080 - 46,xy gonadal dysgenesis, partial, with minifascicular neuropathy
OMIM:612965 - 46,xy sex reversal 3; srxy3
OMIM:613080 - 46,xy sex reversal 5; srxy5
OMIM:613762 - 46,xy sex reversal 6; srxy6
OMIM:614279 - 46,xy sex reversal 8; srxy8

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): gonadal dysgenesis (is_a)