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"

4 matching diseasesClear search ×

Isolated childhood apraxia of speech

Isolated developmental verbal dyspraxia · Pure childhood apraxia of speech

ORPHA:209908

Adrenocortical carcinoma with pure aldosterone hypersecretion

Pure APAC · Pure aldosterone-producing adrenocortical carcinoma

ORPHA:231625

Cold agglutinin disease

CAD · CAS

ORPHA:56425

Pure hereditary spastic paraplegia

Pure HSP · Pure SPG

ORPHA:102012