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GENE - TERM ANNOTATION REPORT

RGD ID: 11855110
Species: Pan paniscus
RGD Object: Gene
Symbol: BOLA3
Name: bolA family member 3
Acc ID: DOID:0080134
Term: multiple mitochondrial dysfunctions syndrome 2
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)
Definition Source(s): https://ghr.nlm.nih.gov/condition/multiple-mitochondrial-dysfunctions-syndrome "DO" "DO", PMID:22562699 "DO" "DO", PMID:24334290 "DO" "DO", PMID:29654549 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
BOLA3 ISOBOLA3 (Homo sapiens)7240710OMIM  
BOLA3 ISOBOLA3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 2PMID:11156534 PMID:21944046 PMID:22562699 PMID:24334290 PMID:25741868 PMID:26741492 PMID:28492532 PMID:30302924
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