raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:352456

Mitochondrial DNA maintenance syndrome

Synonyms: mtDNA maintenance syndrome

Type
Category
Group
Group of disorders
Status
active

This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enMitochondrial DNA maintenance syndromemtDNA maintenance syndrome
frSyndrome de maintenance de l'ADN mitochondrialSyndrome de maintenance de l'ADNmt
deMitochondriales DNA-Maintenance-Syndrom
esSíndrome de mantenimiento del ADN mitocondrialSíndrome de mantenimiento del ADNmt
itSindrome del mantenimento del DNA mitocondrialeSindrome del mantenimento di mtDNA
nlMitochondriaal DNA-handhavingssyndroommtDNA-handhavingssyndroom
ptSíndrome de manutenção do ADN mitocondrialSíndrome de manutenção do ADNmt
plZespół utrzymania mitochondrialnego DNAZespół utrzymania mtDNA
csSyndrom udržování mitochondriální DNASyndrom udržování mtDNA
ukСиндром підтримки мітохондріальної ДНКСиндром підтримки мтДНК
zh线粒体DNA维持综合征mtDNA维持综合征
trMitokondriyal DNA idame sendromumtDNA idame sendromu
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO0018121Evalidated
MONDO18121Evalidated
UMLSC5679930Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

Children (4):

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card