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

Ulnar/fibula ray defect-brachydactyly syndrome

Morava-Mehes syndrome

ORPHA:52056

Vici syndrome

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

ORPHA:1493

W syndrome

Pallister-W syndrome

ORPHA:2804

Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome

WILD syndrome · Disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome

ORPHA:568056

WHIM syndrome

WILM · Warts-hypogammaglobulinemia-infections-myelokathexis syndrome

ORPHA:51636

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ORPHA:280