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"

200 matching diseasesClear search ×

Watson syndrome

Pulmonic stenosis with 'café-au-lait' spots

ORPHA:3444

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ORPHA:280

Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome

Salamon syndrome

ORPHA:1409

X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome

Young-Hughes syndrome

ORPHA:3055

X-linked intellectual disability-macrocephaly-macroorchidism syndrome

Johnson syndrome

ORPHA:85320

X-linked intellectual disability-spastic paraplegia with iron deposits syndrome

Arena syndrome

ORPHA:85333

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome

ORPHA:3469

Young syndrome

Azoospermia-sinopulmonary infections syndrome · Sinusitis-infertility syndrome

ORPHA:3471