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 ×

Spinocerebellar ataxia type 34

Erythrokeratodermia with ataxia · SCA34

ORPHA:1955

Erythrokeratoderma

ORPHA:79355

Erythrokeratoderma ''en cocardes''

Degos genodermatosis "en cocardes"

ORPHA:315

Erythrokeratodermia variabilis

EKV · Erythrokeratodermia variabilis, Mendes da Costa type

ORPHA:317

Erythrokeratodermia-cardiomyopathy syndrome

EKC syndrome

ORPHA:476096

Genetic erythrokeratoderma

ORPHA:183438

Progressive symmetric erythrokeratodermia

Darier-Gottron disease · Erythrokeratodermia progressiva symmetrica

ORPHA:316