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 ×

Turner syndrome

45,X syndrome · 45,X/46,XX syndrome

ORPHA:881

Vici syndrome

Dionisi-Vici-Sabetta-Gambarara syndrome · Corpus callosum agenesis-cataract-immunodeficiency syndrome

ORPHA:1493

W syndrome

Pallister-W syndrome

ORPHA:2804

WAGR syndrome

Del(11)(p13) · Deletion 11p13

ORPHA:893

West syndrome

ORPHA:3451

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ORPHA:280

X-linked Charcot-Marie-Tooth disease type 4

CMT4X · CMTX4

ORPHA:101078

X-linked intellectual disability, Cabezas type

Cabezas syndrome

ORPHA:85293