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"

8 matching diseasesClear search ×

Lymphomatoid granulomatosis

LYG

ORPHA:86869

Adult polyglucosan body disease

APBD

ORPHA:206583

Common variable immunodeficiency phenotype due to germinal digenic/polygenic mutations

CVID phenotype due to germinal digenic/polygenic mutations

ORPHA:696857

Multiple polyglandular tumor

ORPHA:100094

OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a polyglutamine anomaly

ORPHA:98068

OBSOLETE: Autosomal dominant spinocerebellar ataxia due to repeat expansions that do not encode polyglutamine

ORPHA:98070

Polyglucosan body myopathy type 1

PGBM1

ORPHA:397937

Polyglucosan body myopathy type 2

ORPHA:456369