Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:multiple mitochondrial dysfunctions syndrome
go back to main search page
Accession:DOID:0070330 term browser browse the term
Definition:A mitochondrial metabolism disease that is characterized by reduced function of more than one stage of of energy production resulting from mitochondria impairment. (DO)
Synonyms:exact_synonym: MMDS;   fatal multiple mitochondrial dysfunction syndrome;   multiple mitochondrial dysfunctions syndromes
 primary_id: MESH:C565304
 alt_id: RDO:0013980
 xref: GARD:12632;   OMIM:PS605711;   ORDO:289573
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
multiple mitochondrial dysfunctions syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iba57 iron-sulfur cluster assembly factor IBA57 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:43,942,017...43,950,807
Ensembl chr10:43,942,017...43,950,807
JBrowse link
G Isca1 iron-sulfur cluster assembly 1 ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome ClinVar PMID:28356563 PMID:30105122 PMID:31580634 NCBI chr17:4,905,291...4,917,955
Ensembl chr17:4,905,287...4,917,955
JBrowse link
G Isca2 iron-sulfur cluster assembly 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome
CTD
ClinVar
PMID:25434003 PMID:25539947 PMID:25558065 PMID:25741868 PMID:28492532 More... NCBI chr 6:104,418,509...104,420,019
Ensembl chr 6:104,418,454...104,420,045
JBrowse link
G Nfu1 NFU1 iron-sulfur cluster scaffold ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 4:119,458,981...119,480,162
Ensembl chr 4:119,459,061...119,480,373
JBrowse link
multiple mitochondrial dysfunctions syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfu1 NFU1 iron-sulfur cluster scaffold ISO ClinVar Annotator: match by OMIM:605711
ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 1
ClinVar
OMIM
PMID:11156534 PMID:21944046 PMID:22077971 PMID:24033266 PMID:25477904 More... NCBI chr 4:119,458,981...119,480,162
Ensembl chr 4:119,459,061...119,480,373
JBrowse link
multiple mitochondrial dysfunctions syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bola3 bolA family member 3 ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 2
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:302924 PMID:11156534 PMID:21944046 PMID:22562699 PMID:24334290 More... NCBI chr 4:115,853,350...115,862,797
Ensembl chr 4:115,853,350...115,862,797
JBrowse link
multiple mitochondrial dysfunctions syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iba57 iron-sulfur cluster assembly factor IBA57 ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3
ClinVar Annotator: match by OMIM:615330
OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23462291 PMID:24033266 More... NCBI chr10:43,942,017...43,950,807
Ensembl chr10:43,942,017...43,950,807
JBrowse link
multiple mitochondrial dysfunctions syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Isca2 iron-sulfur cluster assembly 2 ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 4 OMIM
ClinVar
PMID:25434003 PMID:25539947 PMID:25558065 PMID:25741868 PMID:28492532 More... NCBI chr 6:104,418,509...104,420,019
Ensembl chr 6:104,418,454...104,420,045
JBrowse link
multiple mitochondrial dysfunctions syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Isca1 iron-sulfur cluster assembly 1 ISO ClinVar Annotator: match by term: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 OMIM
ClinVar
PMID:28356563 PMID:29767723 PMID:30105122 PMID:30113620 PMID:31580634 NCBI chr17:4,905,291...4,917,955
Ensembl chr17:4,905,287...4,917,955
JBrowse link
multiple mitochondrial dysfunctions syndrome 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pmpcb peptidase, mitochondrial processing subunit beta ISO ClinVar Annotator: match by term: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6
ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 6
ClinVar
OMIM
PMID:25741868 PMID:29576218 NCBI chr 4:13,297,583...13,310,363
Ensembl chr 4:13,297,559...13,310,367
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      multiple mitochondrial dysfunctions syndrome 6
        multiple mitochondrial dysfunctions syndrome 1 1
        multiple mitochondrial dysfunctions syndrome 2 1
        multiple mitochondrial dysfunctions syndrome 3 1
        multiple mitochondrial dysfunctions syndrome 4 1
        multiple mitochondrial dysfunctions syndrome 5 1
        multiple mitochondrial dysfunctions syndrome 6 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          inherited metabolic disorder 2649
            mitochondrial metabolism disease 395
              multiple mitochondrial dysfunctions syndrome 6
                multiple mitochondrial dysfunctions syndrome 1 1
                multiple mitochondrial dysfunctions syndrome 2 1
                multiple mitochondrial dysfunctions syndrome 3 1
                multiple mitochondrial dysfunctions syndrome 4 1
                multiple mitochondrial dysfunctions syndrome 5 1
                multiple mitochondrial dysfunctions syndrome 6 1
paths to the root