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"

17 matching diseasesClear search ×

Aarskog-Scott syndrome

Aarskog syndrome · Faciodigitogenital syndrome

ORPHA:915

Caudal regression syndrome

Caudal dysgenesis syndrome · Caudal dysplasia

ORPHA:3027

Congenital alveolar capillary dysplasia

ACDMPV · Alveolar capillary dysplasia with misalignment of pulmonary veins

ORPHA:210122

Congenital aortic valve dysplasia

ORPHA:101043

Congenital tricuspid valve dysplasia

ORPHA:555874

Focal facial dermal dysplasia

FFDD

ORPHA:398166

Focal facial dermal dysplasia type I

Bitemporal aplasia cutis congenita · Brauer syndrome

ORPHA:79133

Focal facial dermal dysplasia type II

FFDD type II · FFDD2

ORPHA:398173

Focal facial dermal dysplasia type IV

FFDD type IV · FFDD4

ORPHA:398189

Frontofacionasal dysplasia

Gollop syndrome

ORPHA:1791

Frontonasal dysplasia

Median cleft face syndrome

ORPHA:250

Greenberg dysplasia

Hydrops-ectopic calcification-motheaten syndrome · Skeletal dysplasia, Greenberg type

ORPHA:1426

Heart-hand syndrome

Atriodigital dysplasia

ORPHA:228184

Lethal faciocardiomelic dysplasia

ORPHA:1972

Oculo-oto-facial dysplasia

ORPHA:77302

Otodental syndrome

Globodontia · Otodental dysplasia

ORPHA:2791

Renal dysplasia

Kidney dysplasia

ORPHA:93108