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"

2 matching diseasesClear search ×

Carnitine palmitoyl transferase II deficiency, myopathic form

CPT2, myopathic form · CPTII, adult-onset form

ORPHA:228302

Myopathic Ehlers-Danlos syndrome

Myopathic EDS · EDS/myopathy overlap syndrome

ORPHA:536516