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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
 alt_id: OMIM:252011
 xref: GARD:5053;   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 ClinVar Annotator: match by term: Mitochondrial complex II deficiency
ClinVar Annotator: match by OMIM:252011
OMIM
ClinVar
PMID:7550341, PMID:10746566, PMID:10976639, PMID:11423010, PMID:12794685, PMID:15989954, PMID:16195397, PMID:16361598, PMID:16798039, PMID:17298551, PMID:17376234, PMID:17480203, 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:28384794, PMID:28492532, PMID:28500238, PMID:28546994, PMID:28552549, PMID:28724664, PMID:28748451, PMID:28750076, PMID:28819017, PMID:28878254, PMID:29177515, PMID:29527294, PMID:29872718, PMID:29978154, PMID:30050099, PMID:30068732, PMID:30201732, PMID:30311386, PMID:30549360, 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
OMIM
ClinVar
PMID:19465911, PMID:25741868 NCBI chr 1:88,779,476...88,780,425
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: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 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    Nutritional and Metabolic Diseases 4728
      disease of metabolism 4728
        mitochondrial metabolism disease 345
          mitochondrial complex II deficiency 4
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
              mitochondrial complex II deficiency 4
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.