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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:An autosomal recessive disorder characterized mainly by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Death usually occurs in early childhood. (OMIM)
Synonyms:exact_synonym: MMDS5
 primary_id: OMIM:617613
 alt_id: RDO:9005179
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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: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 5 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 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.