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ONTOLOGY REPORT - ANNOTATIONS


Term:multiple mitochondrial dysfunctions syndrome 3
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Accession:DOID:0080135 term browser browse the term
Definition:A multiple mitochondrial dysfunctions syndrome that is characterized by loss of previously acquired developmental milestones in the first months or years of life, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly factor IBA57 gene on chromosome 1q42. (DO)
Synonyms:exact_synonym: IBA57 deficiency;   MMDS3
 primary_id: OMIM:615330
 alt_id: RDO:9000905
 xref: ORDO:363424
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multiple mitochondrial dysfunctions syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Iba57 iron-sulfur cluster assembly factor IBA57 JBrowse link 10 45,506,124 45,514,909 RGD:7240710
RGD:8554872

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 3 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 3 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.