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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 3
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Accession:DOID:0080135 term browser browse the term
Definition:A multiple mitochondrial dysfunctions syndrome that is characterized by loss of previously acquired developmental milestones in the first months or years of life, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly factor IBA57 gene on chromosome 1q42. (DO)
Synonyms:exact_synonym: IBA57 deficiency;   MMDS3
 primary_id: OMIM:615330
 xref: ORDO:363424


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multiple mitochondrial dysfunctions syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arf1 ADP-ribosylation factor 1 ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 ClinVar PMID:28492532 NCBI chr10:43,997,983...44,014,461
Ensembl chr10:43,997,986...44,014,434 		JBrowse link
G C10h1orf35 similar to human chromosome 1 open reading frame 35 ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 ClinVar PMID:28492532 NCBI chr10:43,993,809...43,997,287
Ensembl chr10:43,993,668...43,997,289 		JBrowse link
G Gjc2 gap junction protein, gamma 2 ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 ClinVar PMID:28492532 NCBI chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467 		JBrowse link
G Guk1 guanylate kinase 1 ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 ClinVar PMID:28492532 NCBI chr10:43,971,514...43,988,658
Ensembl chr10:43,971,509...43,980,107 		JBrowse link
G Iba57 iron-sulfur cluster assembly factor IBA57 ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23462291 PMID:24033266 More... NCBI chr10:43,942,017...43,950,807
Ensembl chr10:43,942,017...43,950,807 		JBrowse link
G Mrpl55 mitochondrial ribosomal protein L55 ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 ClinVar PMID:28492532 NCBI chr10:43,988,676...43,991,841
Ensembl chr10:43,988,683...43,991,841 		JBrowse link
G Obscn obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 ClinVar PMID:28492532 NCBI chr10:43,774,113...43,919,718
Ensembl chr10:43,789,293...43,919,723 		JBrowse link
G Wnt3a Wnt family member 3A ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 ClinVar PMID:28492532 NCBI chr10:44,034,174...44,078,366
Ensembl chr10:44,034,194...44,078,324 		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 3 8
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 3 8
paths to the root