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"

6 matching diseasesClear search ×

Autosomal recessive brachyolmia

Brachyolmia, Hobaek/Toledo type

ORPHA:448242

Autosomal dominant brachyolmia

Brachyolmia type 3

ORPHA:93304

Brachyolmia

ORPHA:1293

Brachyolmia type 1, Hobaek type

ORPHA:93301

Brachyolmia type 1, Toledo type

ORPHA:93303

Brachyolmia, Maroteaux type

Brachyolmia type 2

ORPHA:93302