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ZIRC
OBO ID: DOID:0060286
Term Name: combined oxidative phosphorylation deficiency Search Ontology:
Synonyms:
Definition: A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction, and has_material_basis_in autosomal recessive inheritance.https://rarediseases.info.nih.gov/diseases/12893/combined-oxidative-phosphorylation-deficiency
References:
Ontology: Human Disease   (DOID:0060286)
OTHER combined oxidative phosphorylation deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
AARS2 Combined oxidative phosphorylation deficiency 8 614096
AIFM1 Combined oxidative phosphorylation deficiency 6 300816
ATP5F1A ?Combined oxidative phosphorylation deficiency 22 616045
C12orf65 Combined oxidative phosphorylation deficiency 7 613559
ELAC2 Combined oxidative phosphorylation deficiency 17 615440
FARS2 Combined oxidative phosphorylation deficiency 14 614946
GFM1 Combined oxidative phosphorylation deficiency 1 609060
GTPBP3 Combined oxidative phosphorylation deficiency 23 616198
LYRM4 ?Combined oxidative phosphorylation deficiency 19 615595
MRPL3 Combined oxidative phosphorylation deficiency 9 614582
MRPL44 ?Combined oxidative phosphorylation deficiency 16 615395
MRPS16 Combined oxidative phosphorylation deficiency 2 610498
MRPS22 Combined oxidative phosphorylation deficiency 5 611719
MTFMT Combined oxidative phosphorylation deficiency 15 614947
MTO1 Combined oxidative phosphorylation deficiency 10 614702
NARS2 Combined oxidative phosphorylation deficiency 24 616239
RMND1 Combined oxidative phosphorylation deficiency 11 614922
SFXN4 Combined oxidative phosphorylation deficiency 18 615578
TARS2 ?Combined oxidative phosphorylation deficiency 21 615918
TSFM Combined oxidative phosphorylation deficiency 3 610505
TUFM Combined oxidative phosphorylation deficiency 4 610678
VARS2 Combined oxidative phosphorylation deficiency 20 615917
EARS2 Combined oxidative phosphorylation deficiency 12 614924
PNPT1 Combined oxidative phosphorylation deficiency 13 614932
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None