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"

5 matching diseasesClear search ×

Diaphanospondylodysostosis

DSD

ORPHA:66637

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

46,XX difference of sex development

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

ORPHA:2982

46,XY difference of sex development

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

ORPHA:98085