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ONTOLOGY REPORT - ANNOTATIONS


Term:multiple mitochondrial dysfunctions syndrome 6
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Accession:DOID:0070332 term browser browse the term
Definition:An autosomal recessive severe neurodegenerative disorder with onset in early childhood. Patients have hypotonia, inability to walk, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity. (OMIM)
Synonyms:exact_synonym: MMDS6
 primary_id: OMIM:617954
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multiple mitochondrial dysfunctions syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pmpcb peptidase, mitochondrial processing beta subunit JBrowse link 4 9,908,838 9,921,615 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      multiple mitochondrial dysfunctions syndrome 6
        multiple mitochondrial dysfunctions syndrome 6 1
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                multiple mitochondrial dysfunctions syndrome 6 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.