Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

36 matching diseasesClear search ×

Sex chromosome difference of sex development

Sex chromosome DSD · Sex chromosome disorder of sex development

ORPHA:325546

46,XX difference of sex development

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

ORPHA:2982

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

ORPHA:98078

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

ORPHA:91144

46,XX difference of sex development-anorectal anomalies syndrome

46,XX disorder of sex development-anorectal anomalies syndrome

ORPHA:2973

46,XX difference of sex development-skeletal anomalies syndrome

46,XX disorder of sex development-skeletal anomalies syndrome

ORPHA:2975

46,XX disorder of gonadal development

ORPHA:325055

46,XX ovotesticular difference of sex development

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

ORPHA:2138

46,XX testicular difference of sex development

46,XX testicular DSD · De la Chapelle syndrome

ORPHA:393

46,XY difference of sex development

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

ORPHA:98085

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

ORPHA:325511

46,XY difference of sex development of endocrine origin

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

ORPHA:325351

46,XY difference of sex development of gynecological interest

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

ORPHA:325632

46,XY disorder of gonadal development

ORPHA:325118

46,XY ovotesticular difference of sex development

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

ORPHA:325345

Chondrodysplasia-difference of sex development syndrome

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

ORPHA:1422

Denys-Drash syndrome

Wilms tumor-DSD syndrome · Drash syndrome

ORPHA:220

Difference of sex development

DSD · Disorder of sex development

ORPHA:90771

Difference of sex development of gynecological interest

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

ORPHA:325620

Difference of sex development-intellectual disability syndrome

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

ORPHA:2983

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

ORPHA:2282

Genetic 46,XX difference of sex development

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

ORPHA:325697

Genetic 46,XY difference of sex development

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

ORPHA:325706

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

ORPHA:325713

Genetic difference of sex development

Genetic DSD · Genetic disorder of sex development

ORPHA:325690

Genetic difference of sex development of gynecological interest

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

ORPHA:325665

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

ORPHA:755

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

ORPHA:96265

Leydig cell hypoplasia due to LHB deficiency

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

ORPHA:325448

Non-specific syndromic intellectual disability

Complex neurodevelopmental disorder

ORPHA:528084

Pontocerebellar hypoplasia type 7

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

ORPHA:284339

Rare bone development disorder

Rare skeletal development disorder

ORPHA:139012

Rare genetic bone development disorder

Rare genetic skeletal development disorder

ORPHA:404584

Syndrome with 46,XX difference of sex development

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

ORPHA:325109

Syndrome with 46,XY difference of sex development

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

ORPHA:98087

Syndrome with difference of sex development of gynecological interest

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

ORPHA:325638