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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 characterized 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;   ICD10CM:G71.3;   OMIM:PS252011;   ORDO:3208


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 term: Mitochondrial complex II deficiency | ClinVar Annotator: match by term: Succinate CoQ reductase deficiency ClinVar PMID:1492653 PMID:7550341 PMID:9536098 PMID:11423010 PMID:15989954 More... NCBI chr34:11,935,684...11,965,094
Ensembl chr34:11,935,941...11,965,189 		JBrowse link
G SDHAF1 succinate dehydrogenase complex assembly factor 1 ISO ClinVar Annotator: match by term: Succinate CoQ reductase deficiency ClinVar PMID:25741868 PMID:26642834 PMID:26749241 PMID:28492532 PMID:33162331 NCBI chr 1:116,688,153...116,689,278
Ensembl chr 1:116,688,808...116,689,164 		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:25741868 PMID:26642834 PMID:26925370 More... NCBI chr 2:81,158,291...81,190,110
Ensembl chr 2:81,158,291...81,190,109 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Mitochondrial complex II deficiency | ClinVar Annotator: match by term: Succinate CoQ reductase deficiency ClinVar PMID:8981955 PMID:10323245 PMID:10657297 PMID:11156372 PMID:11343322 More... NCBI chr 5:21,030,295...21,041,125 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:2674654 PMID:7550341 PMID:8967754 PMID:9536098 More... NCBI chr34:11,935,684...11,965,094
Ensembl chr34:11,935,941...11,965,189 		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:26749241 PMID:28492532 PMID:29517769 More... NCBI chr 1:116,688,153...116,689,278
Ensembl chr 1:116,688,808...116,689,164 		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:25741868 PMID:26642834 PMID:26925370 More... NCBI chr 2:81,158,291...81,190,110
Ensembl chr 2:81,158,291...81,190,109 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 ClinVar PMID:8981955 PMID:10323245 PMID:10657297 PMID:11156372 PMID:11343322 More... NCBI chr 5:21,030,295...21,041,125 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 1:116,688,153...116,689,278
Ensembl chr 1:116,688,808...116,689,164 		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:8981955 PMID:9536098 PMID:10323245 PMID:10657297 PMID:11156372 More... NCBI chr 5:21,030,295...21,041,125 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:16912137 PMID:17200167 More... NCBI chr 2:81,158,291...81,190,110
Ensembl chr 2:81,158,291...81,190,109 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    Nutritional and Metabolic Diseases 7181
      disease of metabolism 7181
        mitochondrial metabolism disease 815
          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 17774
    Developmental Disease 17565
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17453
        genetic disease 17431
          inherited metabolic disorder 5525
            mitochondrial metabolism disease 815
              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