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"

7 matching diseasesClear search ×

Autosomal dominant epidermolytic ichthyosis

BCIE · Bullous congenital ichthyosiform erythroderma

ORPHA:312

CHILD syndrome

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects · CHILD nevus

ORPHA:139

Congenital ichthyosiform erythroderma

CIE · Erythrodermic ichthyosis

ORPHA:79394

Congenital lethal erythroderma

ORPHA:1954

Congenital reticular ichthyosiform erythroderma

CRIE · IWC

ORPHA:281190

Ichthyosis-prematurity syndrome

Congenital ichthyosis type 4 · IPS

ORPHA:88621

Kindler epidermolysis bullosa

Kindler syndrome · Poikiloderma of Kindler

ORPHA:2908