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"

9 matching diseasesClear search ×

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

ORPHA:96266

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 5-alpha-reductase 2 deficiency

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

ORPHA:753

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 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

ORPHA:90783

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

ORPHA:90787

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