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"

11 matching diseasesClear search ×

Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy

mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy

ORPHA:255235

DNA2-related mitochondrial DNA deletion syndrome

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

ORPHA:352470

Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome

ORPHA:319678

Mitochondrial DNA depletion syndrome

mtDNA depletion syndrome

ORPHA:35698

Mitochondrial DNA depletion syndrome, encephalomyopathic form

mtDNA depletion syndrome, encephalomyopathic form

ORPHA:254803

Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

Booth-Haworth-Dilling syndrome · Mitochondrial encephalomyopathy-aminoacidopathy syndrome

ORPHA:1933

Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies

mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies

ORPHA:369897

Mitochondrial DNA depletion syndrome, hepatocerebral form

mtDNA depletion syndrome, hepatocerebral form · Deoxyguanosine kinase deficiency

ORPHA:254871

Mitochondrial DNA depletion syndrome, hepatocerebrorenal form

mtDNA depletion syndrome, hepatocerebrorenal form

ORPHA:363534

Mitochondrial DNA depletion syndrome, myopathic form

mtDNA depletion syndrome, myopathic form

ORPHA:254875

Renal tubulopathy-encephalopathy-liver failure syndrome

ORPHA:254902