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"

12 matching diseasesClear search ×

Progressive symmetric erythrokeratodermia

Darier-Gottron disease · Erythrokeratodermia progressiva symmetrica

ORPHA:316

Congenital erythropoietic porphyria

CEP · Günther disease

ORPHA:79277

Danon disease

GSD due to LAMP-2 deficiency · Glycogenosis due to LAMP-2 deficiency

ORPHA:34587

Darier disease

Darier-White disease · Keratosis follicularis

ORPHA:218

Gaucher disease

Acid beta-glucosidase deficiency · Glucocerebrosidase deficiency

ORPHA:355

Glycogen storage disease due to glucose-6-phosphatase deficiency

G6P deficiency · GSD due to G6P deficiency

ORPHA:364

Gorham-Stout disease

Gorham disease · Gorham syndrome

ORPHA:73

Histoplasmosis

Darling disease

ORPHA:390

Ménétrier disease

Hypoproteinemic hypertrophic gastropathy · Giant hypertrophic gastritis

ORPHA:2494

Ollier disease

Multiple Enchondromatosis type I · Enchondromatosis Spranger type I

ORPHA:296

Scleromyxedema

Arndt-Gottron disease · Generalized lichenoid papular eruption

ORPHA:167635

Tangier disease

ATP-binding cassette transporter A1 deficiency · Analphalipoproteinemia

ORPHA:31150