ONTOLOGY REPORT - ANNOTATIONS


Term:multiple mitochondrial dysfunctions syndrome 3
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Accession:DOID:0080135 term browser browse the term
Synonyms:exact_synonym: MMDS3
 primary_id: OMIM:615330
 alt_id: RDO:9000905
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multiple mitochondrial dysfunctions syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Iba57 iron-sulfur cluster assembly factor IBA57 JBrowse link 10 45,506,124 45,514,909 RGD:7240710
RGD:8554872
G Pkd1 polycystin 1, transient receptor potential channel interacting JBrowse link 10 13,914,057 13,962,008 RGD:8554872
G Rspo2 R-spondin 2 JBrowse link 7 81,919,911 82,059,659 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    syndrome 4218
      Multiple Mitochondrial Dysfunctions Syndrome 9
        multiple mitochondrial dysfunctions syndrome 3 4
Path 2
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          monogenic disease 2859
            autosomal genetic disease 2140
              autosomal recessive disease 1257
                multiple mitochondrial dysfunctions syndrome 3 4
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.