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"

58 matching diseasesClear search ×

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

Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome

Absent tibia-polydactyly syndrome · Werner mesomelic spectrum

ORPHA:988

Timothy syndrome type 1

TS1 · LQT8 type 1

ORPHA:595098

Usher syndrome type 1

USH1

ORPHA:231169

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

Zygodactyly type 4

SD1, Castilla type · SD1d

ORPHA:295193