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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.



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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial complex II deficiency | ClinVar Annotator: match by term: Succinate CoQ reductase deficiency
CTD
ClinVar
PMID:11423010 PMID:17298551 PMID:17376234 PMID:20484225 PMID:21858060 More... NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
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 More... NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Succinate CoQ reductase deficiency ClinVar PMID:10657297 PMID:11156372 PMID:11343322 PMID:11391796 PMID:11897817 More... NCBI chr 8:50,944,717...50,954,298
Ensembl chr 8:50,944,704...50,954,238
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:1492653 PMID:7550341 PMID:8967754 PMID:9536098 PMID:10746566 More... NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
JBrowse link
G Sdhaf1 succinate dehydrogenase complex assembly factor 1 ISO ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:26642834 PMID:28492532 NCBI chr 1:85,576,207...85,577,156
Ensembl chr 1:85,576,041...85,577,366
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 ClinVar PMID:17634472 PMID:22972948 PMID:26642834 PMID:26925370 PMID:27159321 More... NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 ClinVar PMID:10657297 PMID:11156372 PMID:11343322 PMID:11391796 PMID:11897817 More... NCBI chr 8:50,944,717...50,954,298
Ensembl chr 8:50,944,704...50,954,238
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 PMID:25741868 More... NCBI chr 1:85,576,207...85,577,156
Ensembl chr 1:85,576,041...85,577,366
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:10657297 PMID:11156372 PMID:11526495 PMID:12007193 PMID:12111639 More... NCBI chr 8:50,944,717...50,954,298
Ensembl chr 8:50,944,704...50,954,238
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:11897817 PMID:14500403 PMID:16314641 PMID:17200167 PMID:17634472 More... NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    Nutritional and Metabolic Diseases 6757
      disease of metabolism 6757
        mitochondrial metabolism disease 442
          mitochondrial complex II deficiency 4
            Mitochondrial Complex II Deficiency Nuclear Type 1 4
            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 18133
    Developmental Disease 12879
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11579
        genetic disease 11109
          inherited metabolic disorder 4663
            mitochondrial metabolism disease 442
              mitochondrial complex II deficiency 4
                Mitochondrial Complex II Deficiency Nuclear Type 1 4
                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