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"

10 matching diseasesClear search ×

Brachydactyly-arterial hypertension syndrome

Bilginturan brachydactyly · Bilginturan syndrome

ORPHA:1276

Ballard syndrome

Pitt-Williams brachydactyly · Brachydactyly, combined B and E types

ORPHA:93395

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 E

ORPHA:93387

Feingold syndrome type 2

Brachydactyly-short stature-microcephaly syndrome · Brunner-Winter syndrome type 2

ORPHA:391646