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 ×

Trisomy X syndrome

47,XXX syndrome · Triplo-X syndrome

ORPHA:3375

Turner syndrome

45,X syndrome · 45,X/46,XX syndrome

ORPHA:881

VIPoma

Diarrheogenic islet cell tumor · Pancreatic cholera

ORPHA:97282

W syndrome

Pallister-W syndrome

ORPHA:2804

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-macrocephaly-macroorchidism syndrome

Johnson syndrome

ORPHA:85320