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"

17 matching diseasesClear search ×

Brachyolmia, Maroteaux type

Brachyolmia type 2

ORPHA:93302

Autosomal dominant brachyolmia

Brachyolmia type 3

ORPHA:93304

Autosomal recessive brachyolmia

Brachyolmia, Hobaek/Toledo type

ORPHA:448242

Benign recurrent intrahepatic cholestasis type 2

BRIC type 2 · BRIC2

ORPHA:99961

Brachydactyly type A1

Brachydactyly, Farabee type

ORPHA:93388

Brachydactyly type A2

Brachydactyly, Mohr-Wriedt type

ORPHA:93396

Brachydactyly type A4

Brachydactyly, Temtamy type · Brachymesophalangy II and V

ORPHA:93394

Brachydactyly type A5

ORPHA:93389

Brachydactyly type A6

Osebold-Remondini syndrome · Acromesomelic dysplasia, Osebold-Remondini type

ORPHA:93382

Brachydactyly type A7

Brachydactyly, Smorgasbord type

ORPHA:93397

Brachydactyly type B

ORPHA:93383

Brachydactyly type B2

ORPHA:140908

Brachydactyly type C

ORPHA:93384

Brachydactyly type E

ORPHA:93387

Brachyolmia

ORPHA:1293

Brachyolmia type 1, Hobaek type

ORPHA:93301

Brachyolmia type 1, Toledo type

ORPHA:93303