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"

19 matching diseasesClear search ×

Brachydactyly type A1

Brachydactyly, Farabee type

ORPHA:93388

Ballard syndrome

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

ORPHA:93395

Brachydactylous dwarfism, Mseleni type

Mseleni joint disease

ORPHA:2619

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

Brachydactyly-arterial hypertension syndrome

Bilginturan brachydactyly · Bilginturan syndrome

ORPHA:1276

Brachydactyly-long thumb syndrome

Brachydactyly, long thumb type

ORPHA:2946

Brachydactyly-syndactyly, Zhao type

ORPHA:93409

OBSOLETE: Brachydactyly

ORPHA:294937

OBSOLETE: Brachydactyly of toes

OBSOLETE: Short toes

ORPHA:294998

Preaxial digit brachydactyly-webbed fingers

Preaxial brachydactyly, PAX3 type

ORPHA:633211

Sugarman brachydactyly

Sugarman-Hager-Kulik syndrome

ORPHA:498602