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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
 alt_id: RDO:9000905
 xref: ORDO:363424
For additional species annotation, visit the Alliance of Genome Resources.


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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 Iba57 iron-sulfur cluster assembly factor IBA57 ISO ClinVar Annotator: match by OMIM:615330
ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3
OMIM
ClinVar
PMID:23462291 PMID:24033266 PMID:25741868 PMID:25971455 PMID:27785568 PMID:28492532 PMID:28671726 PMID:28913435 NCBI chr10:45,506,124...45,514,909
Ensembl chr10:45,504,504...45,514,878
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    syndrome 7010
      multiple mitochondrial dysfunctions syndrome 6
        multiple mitochondrial dysfunctions syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8378
        genetic disease 7877
          monogenic disease 5719
            autosomal genetic disease 4736
              autosomal recessive disease 2602
                multiple mitochondrial dysfunctions syndrome 3 1
paths to the root