Rare Disease Library

46,XX difference of sex development-skeletal anomalies syndrome

46,XX disorder of sex development-skeletal anomalies syndrome

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 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 difference of sex development

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

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 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 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 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 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-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

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

Nathalie syndrome

Deafness-cataract-skeletal anomalies syndrome · Sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome

Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome

Okamoto syndrome · HNRNPK-related neurodevelopmental disorder

Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation

Ocular anomalies-axonal neuropathy-developmental delay syndrome

Harel-Yoon syndrome

Ossification anomalies-psychomotor developmental delay syndrome

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

Severe neurodevelopmental disorder-facial dysmorphism-cerebral-renal-cardiac anomalies syndrome

TM2D3-related neurodevelopmental disorder

Sex chromosome difference of sex development

Sex chromosome DSD · Sex chromosome disorder of sex development

Syndrome with 46,XX difference of sex development

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

Syndrome with 46,XY difference of sex development

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

Syndrome with difference of sex development of gynecological interest

Syndrome with DSD of gynecological interest · Syndrome with disorder of sex development of gynecological interest