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"

14 matching diseasesClear search ×

Inherited ichthyosis

Genetic ichthyosis

ORPHA:183435

Acquired ichthyosis

ORPHA:454

Autosomal dominant epidermolytic ichthyosis

BCIE · Bullous congenital ichthyosiform erythroderma

ORPHA:312

Congenital ichthyosiform erythroderma

CIE · Erythrodermic ichthyosis

ORPHA:79394

Congenital reticular ichthyosiform erythroderma

CRIE · IWC

ORPHA:281190

Exfoliative ichthyosis

Autosomal recessive exfoliative ichthyosis · Ichthyosis exfoliativa

ORPHA:289586

Genetic interstitial lung disease

Genetic ILD

ORPHA:264992

Genetic porokeratosis

ORPHA:183444

Harlequin ichthyosis

HI · Ichthyosis congenita, Harlequin type

ORPHA:457

Ichthyosis

ORPHA:79354

Ichthyosis hystrix gravior

Ichthyosis, Lambert type

ORPHA:79504

Keratinopathic ichthyosis

KPI

ORPHA:281103

Lamellar ichthyosis

ORPHA:313

Recessive X-linked ichthyosis

RXLI · Steroid sulfatase deficiency

ORPHA:461