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"

3 matching diseasesClear search ×

Cryptomicrotia-brachydactyly-excess fingertip arch syndrome

Tonoki-Ohura-Niikawa syndrome · Cryptomicrotia-brachydactyly syndrome

ORPHA:1547

Double uterus-hemivagina-renal agenesis syndrome

Double uterus and obstructed hemivagina syndrome · OHVIRA syndrome

ORPHA:3411

Kabuki syndrome

Kabuki make-up syndrome · Niikawa-Kuroki syndrome

ORPHA:2322