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"

56 matching diseasesClear search ×

Short rib-polydactyly syndrome, Majewski type

Short rib-polydactyly syndrome type 2

ORPHA:93269

Autoimmune polyendocrinopathy type 2

APS type 2 · APS2

ORPHA:3143

Bartter syndrome type 2

Bartter syndrome type II

ORPHA:620220

Biemond syndrome type 2

Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome

ORPHA:141333

Camptodactyly syndrome, Guadalajara type 2

ORPHA:1326

Cenani-Lenz syndrome

Cenani syndactyly · Cenani-Lenz syndactyly

ORPHA:3258

COFS syndrome

Cerebrooculofacioskeletal syndrome · Pena-Shokeir syndrome type 2

ORPHA:1466

Ectrodactyly-polydactyly syndrome

ORPHA:1892

Fetal akinesia deformation sequence

Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome · FADS

ORPHA:994

Heart-hand syndrome type 2

Atriodigital dysplasia type 2 · Tabatznik syndrome

ORPHA:1350

Hypoplastic tibiae-postaxial polydactyly syndrome

Werner mesomelic syndrome · Hypoplastic tibia-polydactyly syndrome

ORPHA:3332

Marfan syndrome type 2

MFS2

ORPHA:284973

Mayer-Rokitansky-Küster-Hauser syndrome type 2

Atypical MRKH syndrome · MRKH syndrome type 2

ORPHA:2578

McKusick-Kaufman syndrome

Hydrometrocolpos-postaxial polydactyly syndrome · Kaufman-Mckusick syndrome

ORPHA:2473

Mesoaxial synostotic syndactyly with phalangeal reduction

MSSD · Syndactyly type 9

ORPHA:157801

Non-syndromic complex polydactyly

ORPHA:498470

Non-syndromic polydactyly

ORPHA:2913

Non-syndromic postaxial polydactyly

ORPHA:498467

Non-syndromic preaxial polydactyly

ORPHA:498464

Perrault syndrome type 2

XX gonadal dysgenesis-deafness syndrome-progressive neurological manifestations

ORPHA:642976

Pfeiffer syndrome type 2

ORPHA:93259

Piepkorn dysplasia

Short ribs-craniosynostosis-polysyndactyly syndrome

ORPHA:156723

Polydactyly of a biphalangeal thumb and/or hallux

PPD1 · Preaxial polydactyly type 1

ORPHA:93339

Polydactyly of a triphalangeal thumb

PPD2 · Preaxial polydactyly type 2

ORPHA:93336

Polydactyly of an index finger

PPD3 · Preaxial polydactyly type 3

ORPHA:93337

Polydactyly-myopia syndrome

Czeizel-Brooser syndrome

ORPHA:2917

Polysyndactyly

PPD4 · Preaxial polydactyly type 4

ORPHA:93338

Postaxial polydactyly type A

ORPHA:93334

Postaxial polydactyly type B

ORPHA:93335

Pseudo-TORCH syndrome type 2

Pseudo-TORCH syndrome-2 · PTORCH2

ORPHA:481665

Scalp defects-postaxial polydactyly syndrome

ORPHA:1003

Short rib-polydactyly syndrome

ORPHA:1505

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, 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

SHORT syndrome

Lipodystrophy-Rieger anomaly-diabetes syndrome · Rieger anomaly-partial lipodystrophy syndrome

ORPHA:3163

Stickler syndrome type 2

ORPHA:90654

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

Syndactyly-polydactyly-ear lobe syndrome

ORPHA:3259

Synpolydactyly type 1

SD2, Vordingborg type · SD2a

ORPHA:295195

Synpolydactyly type 2

SD2, Debeer type · SD2b

ORPHA:295197