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"

16 matching diseasesClear search ×

Focal facial dermal dysplasia type IV

FFDD type IV · FFDD4

ORPHA:398189

Congenital dyserythropoietic anemia type IV

CDA IV · CDA due to KLF1 mutation

ORPHA:293825

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 III

FFDD type III · FFDD3

ORPHA:1807

Glycogen storage disease due to glycogen branching enzyme deficiency

GSD due to glycogen branching enzyme deficiency · GSD type 4

ORPHA:367

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 II

Cortical dysplasia, Taylor type · FCD type II

ORPHA:268994

Isolated focal cortical dysplasia type IIa

FCD type IIa

ORPHA:269001

Isolated focal cortical dysplasia type IIb

FCD type IIb

ORPHA:269008

Proximal spinal muscular atrophy type 4

Kugelberg-Welander disease · SMA

ORPHA:83420

Woolly hair-palmoplantar keratoderma syndrome

Woolly hair-palmoplantar hyperkeratosis syndrome · KWWH type IV

ORPHA:420686