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 ×

Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins

ORPHA:217371

Mitochondrial disorder due to a defect in mitochondrial protein synthesis

Combined OXPHOS defect · Combined OXPHOS deficiency

ORPHA:35696