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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: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
OMIM
ClinVar
PMID:302924 PMID:11156534 PMID:21944046 PMID:22562699 PMID:24334290 PMID:25741868 PMID:28492532 NCBI chr 4:115,046,693...115,056,140
Ensembl chr 4:115,046,693...115,056,140
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    syndrome 7010
      multiple mitochondrial dysfunctions syndrome 6
        multiple mitochondrial dysfunctions syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      nervous system disease 10903
        central nervous system disease 9050
          brain disease 8375
            Metabolic Brain Diseases 576
              Metabolic Brain Diseases, Inborn 505
                glycine encephalopathy 11
                  multiple mitochondrial dysfunctions syndrome 2 1
paths to the root