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combined oxidative phosphorylation deficiency 31 - Ontology Report - Rat Genome Database

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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 31
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Accession:DOID:0111488 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency characterized by global developmental delay, severe hypotonia, and left ventricular non-compaction that has_material_basis_in homozygous or compound heterozygous mutation in the MIPEP gene on chromosome 13q12.12. (DO)
Synonyms:exact_synonym: COXPD31;   MIPEP-RELATED CONDITION;   lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
 primary_id: MIM:617228
 xref: ORDO:478049


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combined oxidative phosphorylation deficiency 31 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H LOC130009384 ATAC-STARR-seq lymphoblastoid active region 7466 IAGP ClinVar Annotator: match by term: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome ClinVar PMID:25741868 NCBI chr13:23,806,922...23,807,071 JBrowse link
G H LOC130009385 ATAC-STARR-seq lymphoblastoid active region 7467 IAGP ClinVar Annotator: match by term: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome ClinVar PMID:25741868 NCBI chr13:23,808,355...23,808,404 JBrowse link
G H LOC130009386 ATAC-STARR-seq lymphoblastoid active region 7468 IAGP ClinVar Annotator: match by term: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome ClinVar PMID:25741868 NCBI chr13:23,866,121...23,866,260 JBrowse link
G N Mipep mitochondrial intermediate peptidase ISO ClinVar Annotator: match by term: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | ClinVar Annotator: match by term: MIPEP-related condition OMIM
ClinVar
PMID:16199547 PMID:24033266 PMID:25741868 PMID:26762739 PMID:27799064 More... NCBI chrNW_004624776:13,877,579...14,034,875
Ensembl chrNW_004624776:13,880,417...14,037,610
JBrowse link
G G MIPEP mitochondrial intermediate peptidase ISO ClinVar Annotator: match by term: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | ClinVar Annotator: match by term: MIPEP-related condition OMIM
ClinVar
PMID:16199547 PMID:24033266 PMID:25741868 PMID:26762739 PMID:27799064 More... NCBI chr 3:3,578,057...3,726,783
Ensembl chr 3:3,578,193...3,726,746
JBrowse link
G P MIPEP mitochondrial intermediate peptidase ISO ClinVar Annotator: match by term: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | ClinVar Annotator: match by term: MIPEP-related condition OMIM
ClinVar
PMID:16199547 PMID:24033266 PMID:25741868 PMID:26762739 PMID:27799064 More... NCBI chr11:2,675,604...2,790,760
Ensembl chr11:2,670,000...2,790,727
JBrowse link
G S Mipep mitochondrial intermediate peptidase ISO ClinVar Annotator: match by term: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | ClinVar Annotator: match by term: MIPEP-related condition OMIM
ClinVar
PMID:16199547 PMID:24033266 PMID:25741868 PMID:26762739 PMID:27799064 More... NCBI chrNW_004936688:1,592,810...1,736,896
Ensembl chrNW_004936688:1,592,821...1,737,282
JBrowse link
G D MIPEP mitochondrial intermediate peptidase ISO ClinVar Annotator: match by term: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | ClinVar Annotator: match by term: MIPEP-related condition OMIM
ClinVar
PMID:16199547 PMID:24033266 PMID:25741868 PMID:26762739 PMID:27799064 More... NCBI chr25:14,755,474...14,930,412
Ensembl chr25:14,753,596...14,930,369
JBrowse link
G B MIPEP mitochondrial intermediate peptidase ISO ClinVar Annotator: match by term: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | ClinVar Annotator: match by term: MIPEP-related condition OMIM
ClinVar
PMID:16199547 PMID:24033266 PMID:25741868 PMID:26762739 PMID:27799064 More... NCBI chr13:5,040,237...5,207,674
Ensembl chr13:23,334,267...23,500,582
JBrowse link
G C Mipep mitochondrial intermediate peptidase ISO ClinVar Annotator: match by term: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | ClinVar Annotator: match by term: MIPEP-related condition OMIM
ClinVar
PMID:16199547 PMID:24033266 PMID:25741868 PMID:26762739 PMID:27799064 More... NCBI chrNW_004955497:4,065,090...4,196,999
Ensembl chrNW_004955497:4,062,677...4,196,889
JBrowse link
G R Mipep mitochondrial intermediate peptidase ISO ClinVar Annotator: match by term: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | ClinVar Annotator: match by term: MIPEP-related condition OMIM
ClinVar
PMID:16199547 PMID:24033266 PMID:25741868 PMID:26762739 PMID:27799064 More... NCBI chr15:34,926,198...35,051,722
Ensembl chr15:34,926,207...35,051,727
JBrowse link
G M Mipep mitochondrial intermediate peptidase ISO ClinVar Annotator: match by term: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | ClinVar Annotator: match by term: MIPEP-related condition OMIM
ClinVar
PMID:16199547 PMID:24033266 PMID:25741868 PMID:26762739 PMID:27799064 More... NCBI chr14:61,022,011...61,142,930
Ensembl chr14:61,022,022...61,142,927
JBrowse link
G H MIPEP mitochondrial intermediate peptidase IAGP ClinVar Annotator: match by term: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
ClinVar Annotator: match by term: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | ClinVar Annotator: match by term: MIPEP-related condition
OMIM
ClinVar
PMID:16199547 PMID:24033266 PMID:25741868 PMID:26762739 PMID:27799064 More... NCBI chr13:23,730,189...23,889,400
Ensembl chr13:23,730,189...23,889,400
JBrowse link
G H PCOTH prostate and testis expressed opposite C1QTNF9B and MIPEP IAGP ClinVar Annotator: match by term: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
ClinVar Annotator: match by term: MIPEP-related condition
ClinVar PMID:25741868 PMID:28492532 PMID:36413997 NCBI chr13:23,888,868...23,892,103
Ensembl chr13:23,888,749...23,897,263
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 251379
    Nutritional and Metabolic Diseases 85123
      disease of metabolism 85123
        mitochondrial metabolism disease 8513
          combined oxidative phosphorylation deficiency 770
            combined oxidative phosphorylation deficiency 31 14
Path 2
Term Annotations click to browse term
  disease 251379
    Developmental Disease 161226
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 147634
        genetic disease 143145
          monogenic disease 117674
            autosomal genetic disease 112357
              autosomal recessive disease 72194
                combined oxidative phosphorylation deficiency 31 14
paths to the root