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RGD uses the Human Disease Ontology (DO, 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 2
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Accession:DOID:0080134 term browser browse the term
Definition:A multiple mitochondrial dysfunctions syndrome that is characterized by increased serum glycine and lactate, developmental regression in infancy, an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the bolA family member 3 gene on chromosome 2p13. (DO)
Synonyms:exact_synonym: BOLA3 deficiency;   MMDS2;   multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia
 primary_id: OMIM:614299
 xref: ORDO:401874
For additional species annotation, visit the Alliance of Genome Resources.

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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 This custom term has been created by RGD curators.
ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 2
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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      multiple mitochondrial dysfunctions syndrome 6
        multiple mitochondrial dysfunctions syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            Metabolic Brain Diseases 611
              Metabolic Brain Diseases, Inborn 540
                glycine encephalopathy 11
                  multiple mitochondrial dysfunctions syndrome 2 1
paths to the root