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ONTOLOGY REPORT - ANNOTATIONS


Term:multiple mitochondrial dysfunctions syndrome 1
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Accession:DOID:0080133 term browser browse the term
Definition:A multiple mitochondrial dysfunctions syndrome that is characterized by weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the NFU1 iron-sulfur cluster scaffold gene on chromosome 2p13. (DO)
Synonyms:exact_synonym: MMDS1;   NFU1 deficiency
 primary_id: OMIM:605711
 alt_id: RDO:0008991
 xref: ORDO:401869
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multiple mitochondrial dysfunctions syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nfu1 NFU1 iron-sulfur cluster scaffold JBrowse link 4 118,814,284 118,834,955 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15639
    syndrome 5218
      multiple mitochondrial dysfunctions syndrome 6
        multiple mitochondrial dysfunctions syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 15639
    Developmental Diseases 8774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7556
        genetic disease 7052
          monogenic disease 4684
            autosomal genetic disease 3642
              autosomal recessive disease 2078
                multiple mitochondrial dysfunctions syndrome 1 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.