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 ×

Isolated focal cortical dysplasia type II

Cortical dysplasia, Taylor type · FCD type II

ORPHA:268994

Cerebral cortical dysplasia

Brain cortical dysplasia

ORPHA:268950

CNTNAP2-related developmental and epileptic encephalopathy

CDFE syndrome · CDFES

ORPHA:163681

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 III

FFDD type III · FFDD3

ORPHA:1807

Focal facial dermal dysplasia type IV

FFDD type IV · FFDD4

ORPHA:398189

Frontonasal dysplasia-alopecia-genital anomalies syndrome

ALX4-related FNDAG · Craniofrontonasal dysplasia with alopecia and hypogonadism

ORPHA:228390

Heart-hand syndrome type 2

Atriodigital dysplasia type 2 · Tabatznik syndrome

ORPHA:1350

Isolated congenital onychodysplasia

COIF · COIF syndrome

ORPHA:79144

Isolated focal cortical dysplasia

Epilepsy due to FCD

ORPHA:65683

Isolated focal cortical dysplasia type I

FCD type I

ORPHA:268961

Isolated focal cortical dysplasia type Ia

FCD type Ia

ORPHA:268973

Isolated focal cortical dysplasia type Ib

FCD type Ib

ORPHA:268980

Isolated focal cortical dysplasia type Ic

FCD type Ic

ORPHA:268987

Isolated focal cortical dysplasia type IIa

FCD type IIa

ORPHA:269001

Isolated focal cortical dysplasia type IIb

FCD type IIb

ORPHA:269008