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"

50 matching diseasesClear search ×

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

Syndromic disorder with strabismus

Syndrome with a symptomatic strabismus

ORPHA:98683