OMIA 001230 : Ovotesticular DSD (Disorder of Sexual Development)

Category: Reproductive system phene

Possible human homologues (MIM numbers): 400044 (trait) , 300018 (trait) , 612965 (trait) , 154230 (trait) , 613080 (trait) , 613762 (trait) , 233420 (trait) , 614279 (trait) , 480000 (gene)

Links to MONDO diseases: No links.

Cross-species summary: Previously known as Sex reversal: XY female, SRY-negative. The present name (ovotesticular DSD) corresponds to the recommendations on nomenclature for disorders of sexual development (DSD) proposed by Lee et al. (Pediatrics 2006;118;e488; DOI: 10.1542/peds.2006-0738).

Species in which this phene is found:
Japanese medaka (Oryzias latipes)
dog (Canis lupus familiaris)
domestic cat (Felis catus)
horse (Equus caballus)
pig (Sus scrofa)
Western roe deer (Capreolus capreolus)
cattle (Bos taurus)
rabbit (Oryctolagus cuniculus)
wood lemming (Myopus schisticolor)

Edit History


  • Created by Frank Nicholas on 03 May 2005
  • Changed by Frank Nicholas on 14 Feb 2012
  • Changed by Frank Nicholas on 04 Jul 2012
  • Changed by Frank Nicholas on 31 Dec 2015
  • Changed by Imke Tammen2 on 27 Sep 2021
  • Changed by Imke Tammen2 on 18 Sep 2022