RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: combined oxidative phosphorylation deficiency 27
Accession: DOID:0111489
browse the term
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in CARS2 on chromosome 13q34. (DO)
Synonyms: exact_synonym: COXPD27
primary_id: OMIM:616672
xref: NCI:C185238 ; ORDO:477774
For additional species annotation, visit the
Alliance of Genome Resources .
G
Ankrd10
ankyrin repeat domain 10
ISO
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 27
ClinVar
PMID:28492532
NCBI chr16:77,866,489...77,889,745
Ensembl chr16:77,864,261...77,889,745
G
Arhgef7
Rho guanine nucleotide exchange factor 7
ISO
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 27
ClinVar
PMID:28492532
NCBI chr16:77,671,021...77,782,593
Ensembl chr16:77,671,023...77,782,697
G
Cars2
cysteinyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 27
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25361775 PMID:25640679 PMID:25741868 PMID:25787132 PMID:28492532 PMID:30139652 More...
NCBI chr16:77,945,468...77,987,163
Ensembl chr16:77,950,008...77,987,772
G
Col4a1
collagen type IV alpha 1 chain
ISO
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 27
ClinVar
PMID:28492532
NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
G
Col4a2
collagen type IV alpha 2 chain
ISO
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 27
ClinVar
PMID:28492532
NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839
G
Ing1
inhibitor of growth family, member 1
ISO
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 27
ClinVar
PMID:28492532
NCBI chr16:77,937,276...77,945,320
Ensembl chr16:77,937,279...77,946,264
G
Naxd
NAD(P)HX dehydratase
ISO
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 27
ClinVar
PMID:28492532
NCBI chr16:77,986,148...78,004,200
Ensembl chr16:77,987,726...78,004,192
G
Rab20
RAB20, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 27
ClinVar
PMID:28492532
NCBI chr16:78,019,337...78,043,529
Ensembl chr16:78,019,337...78,043,529
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