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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 5
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Accession:DOID:0080274 term browser browse the term
Definition:A multiple mitochondrial dysfunctions syndrome that is characterized by progressive neurologic deterioration beginning in early infancy, with affected individuals having no psychomotor development and early-onset seizures with neurologic decline and spasticity, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly 1 gene on chromosome 9q21. (DO)
Synonyms:exact_synonym: MMDS5
 primary_id: OMIM:617613


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multiple mitochondrial dysfunctions syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ISCA1 iron-sulfur cluster assembly 1 IAGP ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 5 OMIM
ClinVar		 PMID:25741868 PMID:28356563 PMID:29767723 PMID:30105122 PMID:30113620 More... NCBI chr 9:86,264,546...86,282,538
Ensembl chr 9:86,264,546...86,283,102 		JBrowse link
G LOC130001967 ATAC-STARR-seq lymphoblastoid active region 28514 IAGP ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 5 ClinVar PMID:25741868 PMID:29767723 PMID:30113620 PMID:31580634 NCBI chr 9:86,282,389...86,282,538 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18073
      multiple mitochondrial dysfunctions syndrome 19
        multiple mitochondrial dysfunctions syndrome 5 2
Path 2
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        genetic disease 33187
          monogenic disease 18509
            autosomal genetic disease 16779
              autosomal recessive disease 10238
                multiple mitochondrial dysfunctions syndrome 5 2
paths to the root