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ONTOLOGY REPORT - ANNOTATIONS


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
 alt_id: RDO:9000125
 xref: ORDO:401874
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multiple mitochondrial dysfunctions syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bola3 bolA family member 3 JBrowse link 4 115,046,693 115,056,140 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      multiple mitochondrial dysfunctions syndrome 6
        multiple mitochondrial dysfunctions syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          brain disease 7561
            Metabolic Brain Diseases 471
              Metabolic Brain Diseases, Inborn 406
                glycine encephalopathy 10
                  multiple mitochondrial dysfunctions syndrome 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.