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 ×

Syndactyly-telecanthus-anogenital and renal malformations syndrome

STAR syndrome

ORPHA:140952

Syndromic cataract

ORPHA:98641

Thrombocytopenia-absent radius syndrome

TAR syndrome

ORPHA:3320

Tricho-dento-osseous syndrome

TDO syndrome

ORPHA:3352

Triple A syndrome

2A syndrome · 3A syndrome

ORPHA:869

W syndrome

Pallister-W syndrome

ORPHA:2804

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ORPHA:280

X-linked intellectual disability, Cabezas type

Cabezas syndrome

ORPHA:85293