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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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;   NFU1-RELATED CONDITION
 primary_id: OMIM:605711
 xref: ORDO:401869


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multiple mitochondrial dysfunctions syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfu1 NFU1 iron-sulfur cluster scaffold ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 1 | ClinVar Annotator: match by term: NFU1-related condition OMIM
ClinVar		 PMID:9536098 PMID:11156534 PMID:16199547 PMID:17576681 PMID:21944046 More... NCBI chr 4:119,458,981...119,480,162
Ensembl chr 4:119,459,061...119,480,373 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      multiple mitochondrial dysfunctions syndrome 15
        multiple mitochondrial dysfunctions syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                multiple mitochondrial dysfunctions syndrome 1 1
paths to the root