ORPHA:254846

Isolated oxidative phosphorylation complex disorder

Synonyms: Isolated respiratory chain complex disorder

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.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Isolated oxidative phosphorylation complex disorder	Isolated respiratory chain complex disorder
fr	Anomalie isolée d'un complexe de la phosphorylation oxydative	Anomalie isolée d'un complexe de la chaïne respiratoire mitochondriale
de	Störungen der oxidativen Phosphorylierung, isolierte	Atmungskettenkomplex, isolierte Störung
es	Trastorno aislado de un complejo de la fosforilación oxidativa	Trastorno aislado de un complejo de la cadena respiratoria mitocondrial
it	Difetto isolato di un complesso della fosforilazione ossidativa	Difetto isolato di un complesso della catena respiratoria mitocondriale
nl	Geïsoleerde stoornis van oxidatieve fosforylatie	Geïsoleerde stoornis van ademhalingsketencomplex
pt	Doença isolada do complexo da fosforilação oxidativa	Doença isolada do complexo da cadeia respiratória
pl	Izolowane zaburzenie kompleksu fosforylacji oksydacyjnej	Izolowane zaburzenie kompleksu łańcucha oddechowego
cs	Izolovaná porucha komplexu oxidativní fosforylace	Izolovaná porucha komplexu dýchacího řetězce
uk	Ізольоване порушення комплексу окисного фосфорилювання	Ізольоване порушення комплексу дихального ланцюга
zh	孤立性氧化磷酸化复合体障碍	孤立性呼吸链复合体障碍
tr	İzole oksidatif fosforilasyon kompleksi bozukluğu	İzole solunum zinciri kompleksi bozukluğu

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
MONDO	66	E		validated
UMLS	C5679632	E		validated

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

Classification

Preferential parent (Orphanet linearisation):

ORPHA:68367Rare inborn error of metabolism

Parents in the classifications (1):

ORPHA:223713Mitochondrial oxidative phosphorylation disorder
rare inborn errors of metabolism; rare genetic diseases

Children (5):

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

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

Sources for this card

Orphanet page: orpha.net/en/disease/detail/254846
This record as JSON: /data/d/254846.json