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ONTOLOGY REPORT - ANNOTATIONS


Term:multiple mitochondrial dysfunctions syndrome 5
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Accession:DOID:0080274 term browser browse the term
Definition:A multiple mitochondrial dysfunctions syndrome that is characterized by progressive neurologic deterioration beginning in early infancy, with affected individuals having no psychomotor development and early-onset seizures with neurologic decline and spasticity, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly 1 gene on chromosome 9q21. (DO)
Synonyms:exact_synonym: MMDS5
 primary_id: OMIM:617613
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multiple mitochondrial dysfunctions syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Isca1 iron-sulfur cluster assembly 1 JBrowse link 17 5,281,727 5,294,386 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 16022
    syndrome 6143
      multiple mitochondrial dysfunctions syndrome 6
        multiple mitochondrial dysfunctions syndrome 5 1
Path 2
Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8164
        genetic disease 7688
          monogenic disease 5446
            autosomal genetic disease 4409
              autosomal recessive disease 2386
                multiple mitochondrial dysfunctions syndrome 5 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.