Rare Disease Library

46,XY difference of sex development

46,XY disorder of sex development · 46,XY DSD

46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

17-beta-hydroxysteroid dehydrogenase 3 deficiency · 17-ketoreductase deficiency

46,XY difference of sex development due to 5-alpha-reductase 2 deficiency

46,XY DSD due to 5-alpha-reductase 2 deficiency · Pseudovaginal perineoscrotal hypospadias

46,XY difference of sex development due to a cholesterol synthesis defect

46,XY DSD due to a cholesterol synthesis defect · 46,XY disorder of sex development due to a cholesterol synthesis defect

46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue

46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue

46,XY difference of sex development due to a testosterone synthesis defect

46,XY DSD due to a testosterone synthesis defect · 46,XY disorder of sex development due to a testosterone synthesis defect

46,XY difference of sex development due to adrenal and testicular steroidogenesis defect

46,XY DSD due to adrenal and testicular steroidogenesis defect · 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect

46,XY difference of sex development due to impaired androgen production

46,XY DSD due to impaired androgen production · 46,XY disorder of sex development due to impaired androgen production

46,XY difference of sex development due to isolated 17,20-lyase deficiency

46,XY disorder of sex development due to isolated 17,20-lyase deficiency

46,XY difference of sex development due to testicular 17,20-desmolase deficiency

46,XY disorder of sex development due to testicular 17,20-desmolase deficiency

46,XY difference of sex development due to testicular steroidogenesis defect

46,XY disorder of sex development due to testicular steroidogenesis defect · 46,XY DSD due to testicular steroidogenesis defect

46,XY difference of sex development induced by maternal exposure to endocrine disruptors

46,XY DSD induced by maternal-exposure to endocrine disruptors · 46,XY disorder of sex development induced by maternal exposure to endocrine disruptors

46,XY difference of sex development of endocrine origin

46,XY DSD of endocrine origin · 46,XY disorder of sex development of endocrine origin

46,XY difference of sex development of gynecological interest

46,XY DSD of gynecological interest · 46,XY disorder of sex development of gynecological interest

46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency

46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency · XY sex reversal-adrenal failure

Leydig cell hypoplasia

46,XY DSD due to LH resistance or LHB deficiency · 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency

Leydig cell hypoplasia due to complete LH resistance

46,XY DSD due to complete LH receptor inactivation · 46,XY DSD due to complete LH resistance

Leydig cell hypoplasia due to LHB deficiency

46,XY DSD due to LHB deficiency · 46,XY DSD due to luteinizing hormone subunit beta deficiency

46,XX difference of sex development

46,XX DSD · 46,XX disorder of sex development

46,XX difference of sex development induced by androgens excess

46,XX DSD induced by androgens excess · 46,XX disorder of sex development induced by androgens excess

46,XX difference of sex development induced by endogenous maternal-derived androgen

46,XX DSD induced by endogenous maternal-derived androgen · 46,XX disorder of sex development induced by endogenous maternal-derived androgen

46,XX difference of sex development induced by exogenous maternal-derived androgen

46,XX DSD induced by exogenous maternal-derived androgen · 46,XX disorder of sex development induced by exogenous maternal-derived androgen

46,XX difference of sex development induced by fetal androgens excess

46,XX DSD induced by fetal androgens excess · 46,XX disorder of sex development induced by fetal androgens excess

46,XX difference of sex development induced by fetoplacental androgens excess

46,XX DSD induced by fetoplacental androgens excess · 46,XX disorder of sex development induced by fetoplacental androgens excess

46,XX difference of sex development induced by maternal-derived androgen

46,XX disorder of sex development induced by maternal-derived androgen · 46,XX DSD induced by maternal-derived androgen

46,XX difference of sex development-anorectal anomalies syndrome

46,XX disorder of sex development-anorectal anomalies syndrome

46,XX difference of sex development-skeletal anomalies syndrome

46,XX disorder of sex development-skeletal anomalies syndrome

46,XX disorder of gonadal development

46,XX ovotesticular difference of sex development

46,XX ovotesticular disorder of sex development · 46,XX ovotesticular DSD

46,XX testicular difference of sex development

46,XX testicular DSD · De la Chapelle syndrome

46,XY disorder of gonadal development

46,XY ovotesticular difference of sex development

46,XY ovotesticular DSD · 46,XY ovotesticular disorder of sex development

Chondrodysplasia-difference of sex development syndrome

Nivelon-Nivelon-Mabille syndrome · Chondrodysplasia-disorder of sex development syndrome

Denys-Drash syndrome

Wilms tumor-DSD syndrome · Drash syndrome

Difference of sex development

DSD · Disorder of sex development

Difference of sex development of gynecological interest

DSD of gynecological interest · Disorder of sex development of gynecological interest

Difference of sex development-intellectual disability syndrome

Verloes-Gillerot-Fryns syndrome · Disorder of sex development-intellectual disability syndrome

Dysmorphism-short stature-deafness-difference of sex development syndrome

Dysmorphism-short stature-hearing loss-disorder of sex development syndrome · Dysmorphism-short stature-deafness-disorder of sex development syndrome

Genetic 46,XX difference of sex development

Genetic 46,XX DSD · Genetic 46,XX disorder of sex development

Genetic 46,XY difference of sex development

Genetic 46,XY DSD · Genetic 46,XY disorder of sex development

Genetic 46,XY difference of sex development of endocrine origin

Genetic 46,XY DSD of endocrine origin · Genetic 46,XY disorder of sex development of endocrine origin

Genetic difference of sex development

Genetic DSD · Genetic disorder of sex development

Genetic difference of sex development of gynecological interest

Genetic DSD of gynecological interest · Genetic disorder of sex development of gynecological interest

Leydig cell hypoplasia due to partial LH resistance

46,XY DSD due to partial LH receptor inactivation · 46,XY DSD due to partial LH resistance

Non-specific syndromic intellectual disability

Complex neurodevelopmental disorder

Pontocerebellar hypoplasia type 7

PCH7 · Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome

Rare bone development disorder

Rare skeletal development disorder

Rare genetic bone development disorder

Rare genetic skeletal development disorder