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"

42 matching diseasesClear search ×

Zygodactyly type 4

SD1, Castilla type · SD1d

ORPHA:295193

Apert syndrome

ACS1 · Acrocephalosyndactyly type 1

ORPHA:87

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

Brachydactyly-syndactyly, Zhao type

ORPHA:93409

Camptodactyly syndrome, Guadalajara type 1

ORPHA:1327

Carpenter syndrome

ACPS2 · Acrocephalopolysyndactyly type 2

ORPHA:65759

Cenani-Lenz syndrome

Cenani syndactyly · Cenani-Lenz syndactyly

ORPHA:3258

FG syndrome type 1

Opitz-Kaveggia syndrome

ORPHA:93932

Goodman syndrome

ACPS4 · Acrocephalopolysyndactyly type 4

ORPHA:65798

Mesoaxial synostotic syndactyly with phalangeal reduction

MSSD · Syndactyly type 9

ORPHA:157801

Non-syndromic syndactyly

ORPHA:90025

Pfeiffer syndrome

ACS5 · Acrocephalosyndactyly type 5

ORPHA:710

Polydactyly of a biphalangeal thumb and/or hallux

PPD1 · Preaxial polydactyly type 1

ORPHA:93339

Polysyndactyly

PPD4 · Preaxial polydactyly type 4

ORPHA:93338

Saethre-Chotzen syndrome

ACS3 · Acrocephalosyndactyly type 3

ORPHA:794

Short rib-polydactyly syndrome type 5

ORPHA:498497

Short rib-polydactyly syndrome, Beemer-Langer type

Short rib-polydactyly syndrome type 4

ORPHA:93268

Short rib-polydactyly syndrome, Majewski type

Short rib-polydactyly syndrome type 2

ORPHA:93269

Short rib-polydactyly syndrome, Saldino-Noonan type

Short rib-polydactyly syndrome type 1

ORPHA:93270

Short rib-polydactyly syndrome, Verma-Naumoff type

Short rib-polydactyly syndrome type 3

ORPHA:93271

Syndactyly type 1

ORPHA:93402

Syndactyly type 2

Synpolydactyly

ORPHA:93403

Syndactyly type 3

SD3 · Syndactyly of fingers 4 and 5

ORPHA:93404

Syndactyly type 4

Polysyndactyly, Haas type

ORPHA:93405

Syndactyly type 5

Postaxial syndactyly with metacarpal synostosis · SD5

ORPHA:93406

Syndactyly type 6

Mitten hand · Syndactyly, mitten type

ORPHA:295012

Syndactyly type 8

Fusion of metacarpals 4 and 5

ORPHA:2498

Synpolydactyly type 1

SD2, Vordingborg type · SD2a

ORPHA:295195

Synpolydactyly type 2

SD2, Debeer type · SD2b

ORPHA:295197

Synpolydactyly type 3

SD2, Malik type · SD2c

ORPHA:295199

Zygodactyly type 1

SD1, Weidenreich type · SD1a

ORPHA:295187

Zygodactyly type 2

SD1, Lueken type · SD1b

ORPHA:295189

Zygodactyly type 3

SD1, Montagu type · SD1c

ORPHA:295191