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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: MIM:614299
 xref: ORDO:401874


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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 term: Multiple mitochondrial dysfunctions syndrome 2 OMIM
ClinVar		 PMID:11156534 PMID:21944046 PMID:22562699 PMID:24334290 PMID:25741868 More... NCBI chr 4:115,853,350...115,862,797
Ensembl chr 4:117,410,680...117,420,491 		JBrowse link
G Tet3 tet methylcytosine dioxygenase 3 ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 2 ClinVar NCBI chr 4:117,425,106...117,525,495
Ensembl chr 4:117,429,857...117,520,486 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      multiple mitochondrial dysfunctions syndrome 22
        multiple mitochondrial dysfunctions syndrome 2 2
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal recessive disease 7090
                glycine encephalopathy 13
                  multiple mitochondrial dysfunctions syndrome 2 2
paths to the root