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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:multiple mitochondrial dysfunctions syndrome
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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 chr10:45,506,124...45,514,909
Ensembl chr10:45,504,504...45,514,878
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 chr17:5,281,727...5,294,386
Ensembl chr17:5,281,727...5,294,384
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:29122497 PMID:29297947 PMID:29470032 NCBI chr 6:108,488,678...108,490,188
Ensembl chr 6:108,488,678...108,490,188
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 4:118,814,284...118,834,955
Ensembl chr 4:118,814,284...118,834,955
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 PMID:25741868 PMID:28492532 NCBI chr 4:118,814,284...118,834,955
Ensembl chr 4:118,814,284...118,834,955
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 PMID:25741868 PMID:28492532 NCBI chr 4:115,046,693...115,056,140
Ensembl chr 4:115,046,693...115,056,140
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:23462291 PMID:24033266 PMID:25741868 PMID:25971455 PMID:27785568 PMID:28492532 PMID:28671726 PMID:28913435 NCBI chr10:45,506,124...45,514,909
Ensembl chr10:45,504,504...45,514,878
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:29122497 PMID:29297947 PMID:29359243 PMID:29470032 NCBI chr 6:108,488,678...108,490,188
Ensembl chr 6:108,488,678...108,490,188
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 chr17:5,281,727...5,294,386
Ensembl chr17:5,281,727...5,294,384
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
OMIM
PMID:29576218 NCBI chr 4:9,908,838...9,921,615
Ensembl chr 4:9,908,831...9,921,610
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    syndrome 7010
      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 16035
    Developmental Diseases 9546
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8378
        genetic disease 7877
          inherited metabolic disorder 2238
            mitochondrial metabolism disease 345
              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