ODCs

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1 OMIM reference -
2 associated genes
14 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

3 OMIM references -
4 associated genes
16 signs/symptoms

46,XX ovotesticular disorder of sex development

46,XX gonadal dysgenesis


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SOX9	(0.86)	NR5A1

Citations in the biomedical literature:

46,XX ovotesticular disorder of sex development		46,XX gonadal dysgenesis
	Synonym(s): - 46,XX ovotesticular DSD - True hermaphroditism		Synonym(s): - 46,XX complete gonadal dysgenesis - 46,XX ovarian dysgenesis - 46,XX pure gonadal dysgenesis - FSH-RO - Follicular stimulating hormone-resistant ovaries - Hypergonadotropic ovarian dysgenesis - XX female gonadal dysgenesis - XX-GD

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare infertility - Rare urogenital disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare infertility - Rare urogenital disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: adolescence / young Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D050090		External references: 3 OMIM references - 1 MeSH reference: D023961


COMMON SIGNS	- Abnormal / polycystic ovaries - Sterility / hypofertility

46,XX ovotesticular disorder of sex development		46,XX gonadal dysgenesis
	Very frequent - Ambiguous genitalia - Bifid scrotum - Horizontal folds on scrotum - Hypoplastic scrotum / hemiscrotum / scrotal ridges - Hypospadias / epispadias / bent penis - Male internal genitalia anomaly / deferent ducts agenesis / ectopy / duplication - Micropenis / small penis / agenesis - True hermaphrodism - Undescended / ectopic testes / cryptorchidia / unfixed testes - Urogenital sinus - Uterine / uterus / Fallopian tubes anomalies Occasional - Chromosomal or genetic anomaly		Very frequent - Autosomal dominant inheritance - Late puberty / hypogonadism / hypogenitalism - Primary amenorrhea Frequent - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets Occasional - Ataxia / incoordination / trouble of the equilibrium - Autosomal recessive inheritance - Hearing loss / hypoacusia / deafness - Long hand / arachnodactyly - Lung fibrosis - Metabolic anomalies - Microcephaly - Precocious menopause / secondary amenorrhea - Short stature / dwarfism / nanism - X-linked recessive inheritance