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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: FATAL MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME;   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: Fatal multiple mitochondrial dysfunctions syndrome ClinVar PMID:25741868 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: Fatal 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fatal multiple mitochondrial dysfunctions syndrome		 CTD
ClinVar		 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 term: Multiple mitochondrial dysfunctions syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:11156534 PMID:16199547 PMID:17576681 PMID:21944046 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 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
G Tet3 tet methylcytosine dioxygenase 3 ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 2 ClinVar NCBI chr 4:115,867,412...115,964,433
Ensembl chr 4:115,871,265...115,964,193 		JBrowse link
multiple mitochondrial dysfunctions syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arf1 ADP-ribosylation factor 1 ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 ClinVar PMID:28492532 NCBI chr10:43,997,983...44,014,543
Ensembl chr10:43,997,986...44,014,434 		JBrowse link
G C10h1orf35 similar to human chromosome 1 open reading frame 35 ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 ClinVar PMID:28492532 NCBI chr10:43,993,809...43,997,287
Ensembl chr10:43,993,668...43,997,289 		JBrowse link
G Gjc2 gap junction protein, gamma 2 ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 ClinVar PMID:28492532 NCBI chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467 		JBrowse link
G Guk1 guanylate kinase 1 ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 ClinVar PMID:28492532 NCBI chr10:43,971,514...43,988,658
Ensembl chr10:43,971,509...43,980,107 		JBrowse link
G Iba57 iron-sulfur cluster assembly factor IBA57 ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 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
G Mrpl55 mitochondrial ribosomal protein L55 ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 ClinVar PMID:28492532 NCBI chr10:43,988,676...43,991,841
Ensembl chr10:43,988,683...43,991,841 		JBrowse link
G Obscn obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 ClinVar PMID:28492532 NCBI chr10:43,774,113...43,919,718
Ensembl chr10:43,789,293...43,919,723 		JBrowse link
G Wnt3a Wnt family member 3A ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 ClinVar PMID:28492532 NCBI chr10:44,034,174...44,078,463
Ensembl chr10:44,034,194...44,078,324 		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:25741868 PMID:28356563 PMID:29767723 PMID:30105122 PMID:30113620 More... 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: PMPCB-related mitochondrial disorder OMIM
ClinVar		 PMID:25741868 PMID:28492532 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 20988
    syndrome 10788
      multiple mitochondrial dysfunctions syndrome 14
        multiple mitochondrial dysfunctions syndrome 1 1
        multiple mitochondrial dysfunctions syndrome 2 2
        multiple mitochondrial dysfunctions syndrome 3 8
        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 20988
    Developmental Disease 18234
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18064
        genetic disease 17984
          inherited metabolic disorder 6274
            mitochondrial metabolism disease 814
              multiple mitochondrial dysfunctions syndrome 14
                multiple mitochondrial dysfunctions syndrome 1 1
                multiple mitochondrial dysfunctions syndrome 2 2
                multiple mitochondrial dysfunctions syndrome 3 8
                multiple mitochondrial dysfunctions syndrome 4 1
                multiple mitochondrial dysfunctions syndrome 5 1
                multiple mitochondrial dysfunctions syndrome 6 1
paths to the root