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Summary Literature (0)
DOID:14448 - 46,XY sex reversal


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

Referenced OMIM:
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

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : dhh, nr5a1, nr0b1, cbx2, map3k1, sox9, akr1c2, akr1c4

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): gonadal dysgenesis (is_a)


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