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"

5 matching diseasesClear search ×

DNA2-related mitochondrial DNA deletion syndrome

Mitochondrial DNA deletion syndrome with limb-girdle weakness · mtDNA deletion syndrome with limb-girdle weakness

ORPHA:352470

Genetic syndrome with limb reduction defects

ORPHA:404574

Mitochondrial DNA depletion syndrome

mtDNA depletion syndrome

ORPHA:35698

Multiple mitochondrial DNA deletion syndrome

Multiple mtDNA deletion syndrome

ORPHA:254807

Syndrome with limb reduction defects

ORPHA:294955