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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:mitochondrial complex II deficiency
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Accession:DOID:0060537 term browser browse the term
Definition:A mitochondrial metabolism disease characerized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23. (DO)
Synonyms:exact_synonym: isolated mitochondrial respiratory chain complex II deficiency;   isolated succinate-CoQ reductase deficiency;   isolated succinate-coenzyme Q reductase deficiency;   isolated succinate-ubiquinone reductase deficiency;   succinate CoQ reductase deficiency
 primary_id: MESH:C565375
 xref: GARD:5053;   OMIM:PS252011;   ORDO:3208
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
mitochondrial complex II deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by OMIM:252011
ClinVar Annotator: match by term: Mitochondrial complex II deficiency
ClinVar Annotator: match by term: Succinate CoQ reductase deficiency
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:1492653 PMID:7550341 PMID:8967754 PMID:9536098 PMID:10746566 PMID:10976639 PMID:11423010 PMID:12794685 PMID:15989954 PMID:16195397 PMID:16199547 PMID:16361598 PMID:16798039 PMID:17298551 PMID:17376234 PMID:17480203 PMID:17576681 PMID:19628817 PMID:20484225 PMID:20489732 PMID:20551992 PMID:21505157 PMID:21752896 PMID:21858060 PMID:22429592 PMID:22517557 PMID:22677546 PMID:22904323 PMID:22955521 PMID:22972948 PMID:22974104 PMID:23043141 PMID:23060355 PMID:23109135 PMID:23154507 PMID:23174939 PMID:23252569 PMID:23282968 PMID:23612575 PMID:23666964 PMID:23730622 PMID:23750034 PMID:23797725 PMID:23833252 PMID:24033266 PMID:24448499 PMID:24694336 PMID:24781757 PMID:25394176 PMID:25405498 PMID:25412673 PMID:25488574 PMID:25494863 PMID:25595276 PMID:25720320 PMID:25741868 PMID:26113600 PMID:26173966 PMID:26198225 PMID:26259135 PMID:26269449 PMID:26334176 PMID:26490314 PMID:26556299 PMID:26700204 PMID:26722403 PMID:27011036 PMID:27153395 PMID:27390349 PMID:27493882 PMID:27535533 PMID:27683074 PMID:27847310 PMID:27854218 PMID:27895137 PMID:27986441 PMID:28166811 PMID:28384794 PMID:28492532 PMID:28500238 PMID:28546994 PMID:28552549 PMID:28724664 PMID:28748451 PMID:28750076 PMID:28819017 PMID:28873162 PMID:28878254 PMID:29177515 PMID:29527294 PMID:29872718 PMID:30050099 PMID:30068732 PMID:30201732 PMID:30549360 PMID:30728243 PMID:30854332 PMID:30877234 PMID:31413764 NCBI chr 1:31,545,631...31,570,601
Ensembl chr 1:31,545,631...31,570,601 		JBrowse link
G Sdhaf1 succinate dehydrogenase complex assembly factor 1 ISO ClinVar Annotator: match by OMIM:252011
ClinVar Annotator: match by term: Mitochondrial complex II deficiency		 ClinVar PMID:25741868 PMID:26642834 PMID:28492532 NCBI chr 1:88,779,476...88,780,425
Ensembl chr 1:90,948,976...90,949,332
Ensembl chr 1:90,948,976...90,949,332 		JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Mitochondrial complex II deficiency ClinVar PMID:17634472 PMID:22972948 PMID:26642834 PMID:26925370 PMID:27159321 PMID:27604842 PMID:28492532 NCBI chr 5:159,484,378...159,505,063
Ensembl chr 5:159,484,370...159,505,064 		JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Mitochondrial complex II deficiency ClinVar PMID:24367056 PMID:28492532 NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604 		JBrowse link
Mitochondrial Complex II Deficiency Nuclear Type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1 OMIM
ClinVar		 PMID:10746566 PMID:15989954 PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:22974104 PMID:23109135 PMID:23174939 PMID:23252569 PMID:23612575 PMID:23666964 PMID:23730622 PMID:24781757 PMID:25488574 PMID:25494863 PMID:25741868 PMID:26113600 PMID:26173966 PMID:26259135 PMID:26269449 PMID:26490314 PMID:26722403 PMID:27895137 PMID:28384794 PMID:28492532 PMID:28500238 PMID:28546994 PMID:28819017 PMID:29872718 PMID:30068732 NCBI chr 1:31,545,631...31,570,601
Ensembl chr 1:31,545,631...31,570,601 		JBrowse link
Mitochondrial Complex II Deficiency Nuclear Type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdhaf1 succinate dehydrogenase complex assembly factor 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2 OMIM
ClinVar		 PMID:12112045 PMID:16737791 PMID:19465911 PMID:22995659 NCBI chr 1:88,779,476...88,780,425
Ensembl chr 1:90,948,976...90,949,332
Ensembl chr 1:90,948,976...90,949,332 		JBrowse link
Mitochondrial Complex II Deficiency Nuclear Type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3 OMIM
ClinVar		 PMID:24033266 PMID:24367056 PMID:26008905 PMID:28492532 NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604 		JBrowse link
Mitochondrial Complex II Deficiency Nuclear Type 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4 OMIM
ClinVar		 PMID:14500403 PMID:16314641 PMID:17200167 PMID:17634472 PMID:18382370 PMID:19258401 PMID:19351833 PMID:19454582 PMID:20208144 PMID:20592014 PMID:20614293 PMID:22972948 PMID:23083876 PMID:24509376 PMID:24939699 PMID:25695889 PMID:25741868 PMID:26259135 PMID:26642834 PMID:26925370 PMID:27159321 PMID:27539324 PMID:27604842 PMID:28492532 PMID:32124427 NCBI chr 5:159,484,378...159,505,063
Ensembl chr 5:159,484,370...159,505,064 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    Nutritional and Metabolic Diseases 5513
      disease of metabolism 5513
        mitochondrial metabolism disease 388
          mitochondrial complex II deficiency 4
            Mitochondrial Complex II Deficiency Nuclear Type 1 1
            Mitochondrial Complex II Deficiency Nuclear Type 2 1
            Mitochondrial Complex II Deficiency Nuclear Type 3 1
            Mitochondrial Complex II Deficiency Nuclear Type 4 1
Path 2
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9430
        genetic disease 8941
          inherited metabolic disorder 2606
            mitochondrial metabolism disease 388
              mitochondrial complex II deficiency 4
                Mitochondrial Complex II Deficiency Nuclear Type 1 1
                Mitochondrial Complex II Deficiency Nuclear Type 2 1
                Mitochondrial Complex II Deficiency Nuclear Type 3 1
                Mitochondrial Complex II Deficiency Nuclear Type 4 1
paths to the root