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ONTOLOGY REPORT - ANNOTATIONS


Term:multiple mitochondrial dysfunctions syndrome 4
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Accession:DOID:0080136 term browser browse the term
Definition:A multiple mitochondrial dysfunctions syndrome that is characterized by normal development for the first months of life, followed by progressive loss of motor and social skills with hypotonia, spasticity, and nystagmus, resulting in death in early childhood, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the iron-sulfur cluster assembly 2 gene on chromosome 14q24. (DO)
Synonyms:exact_synonym: MMDS4
 primary_id: OMIM:616370
 alt_id: RDO:9001462
 xref: ORDO:457406
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multiple mitochondrial dysfunctions syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Isca2 iron-sulfur cluster assembly 2 JBrowse link 6 108,488,678 108,490,188 RGD:7240710
RGD:8554872

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Path 1
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  disease 15984
    syndrome 6094
      multiple mitochondrial dysfunctions syndrome 6
        multiple mitochondrial dysfunctions syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 15984
    Developmental Diseases 9281
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8095
        genetic disease 7613
          monogenic disease 5382
            autosomal genetic disease 4348
              autosomal recessive disease 2339
                multiple mitochondrial dysfunctions syndrome 4 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.