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:

MIM:300018 - 46,xy sex reversal 2; srxy2

MIM:607080 - 46,xy gonadal dysgenesis, partial, with minifascicular neuropathy

MIM:612965 - 46,xy sex reversal 3; srxy3

MIM:613080 - 46,xy sex reversal 5; srxy5

MIM:613762 - 46,xy sex reversal 6; srxy6

MIM: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