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"

53 matching diseasesClear search ×

Schuurs-Hoeijmakers syndrome

PACS1-NDD · PACS1-neurodevelopmental disorder

ORPHA:329224

Sex chromosome difference of sex development

Sex chromosome DSD · Sex chromosome disorder of sex development

ORPHA:325546

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