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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
 primary_id: OMIM:605711
 alt_id: RDO:0008991
 xref: ORDO:401869
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:605711
ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 1
ClinVar
OMIM
PMID:11156534, PMID:21944046, PMID:22077971, PMID:24033266, PMID:25477904, PMID:25741868, PMID:28492532 NCBI chr 4:118,814,284...118,834,955
Ensembl chr 4:118,814,284...118,834,955
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      multiple mitochondrial dysfunctions syndrome 6
        multiple mitochondrial dysfunctions syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal recessive disease 2601
                multiple mitochondrial dysfunctions syndrome 1 1
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.