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"

28 matching diseasesClear search ×

Kumar-Levick syndrome

Nail dysplasia-camptodactyly-brachydactyly type B syndrome

ORPHA:2355

Brachydactyly type B

ORPHA:93383

Brachydactyly type B2

ORPHA:140908

Brachydactyly type C

ORPHA:93384

Brachydactyly type E

ORPHA:93387

Brachydactyly-elbow wrist dysplasia syndrome

Brachydactyly-joint dysplasia syndrome · Liebenberg syndrome

ORPHA:1275

Brachydactyly-long thumb syndrome

Brachydactyly, long thumb type

ORPHA:2946

Brachydactyly-syndactyly, Zhao type

ORPHA:93409

Camptodactyly syndrome, Guadalajara type 1

ORPHA:1327

Camptodactyly syndrome, Guadalajara type 2

ORPHA:1326

Camptodactyly syndrome, Guadalajara type 3

ORPHA:488434

Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome

Pericarditis-arthropathy-camptodactyly syndrome · Arthropathy-camptodactyly syndrome

ORPHA:2848

Camptodactyly-joint contractures-facial skeletal defects syndrome

Rozin camptodactyly syndrome

ORPHA:1323

Camptodactyly-taurinuria syndrome

Familial streblodactyly with amino-aciduria

ORPHA:1325

Coloboma of macula-brachydactyly type B syndrome

Sorsby syndrome

ORPHA:1471

Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome

Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome · TEBC syndrome

ORPHA:708019

Craniosynostosis-dysmorphism-brachydactyly syndrome

Glass-Chapman-Hockley syndrome

ORPHA:1535

Cryptomicrotia-brachydactyly-excess fingertip arch syndrome

Tonoki-Ohura-Niikawa syndrome · Cryptomicrotia-brachydactyly syndrome

ORPHA:1547

Exostoses-anetodermia-brachydactyly type E syndrome

ORPHA:1962

Fibular aplasia-complex brachydactyly syndrome

Du Pan syndrome

ORPHA:2639

Hirschsprung disease-type D brachydactyly syndrome

ORPHA:2150

Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome

ORPHA:2504

Mononen-Karnes-Senac syndrome

Skeletal dysplasia-brachydactyly syndrome

ORPHA:2565

Multiple synostoses syndrome

Deafness-Hermann type symphalangism syndrome · Facio-audio-symphalangism

ORPHA:3237

Sillence syndrome

Brachydactyly-symphalangism syndrome

ORPHA:3168

Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome

SED-BDS · Tattoo dysplasia

ORPHA:163654

Tel Hashomer camptodactyly syndrome

Camptodactyly-muscular hypoplasia-skeletal anomalies-abnormal palmar creases syndrome

ORPHA:3292

Temtamy preaxial brachydactyly syndrome

ORPHA:363417