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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:3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
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Accession:DOID:0110001 term browser browse the term
Definition:A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the SERAC1 gene on chromosome 6q25. (DO)
Synonyms:exact_synonym: 3-methylglutaconic aciduria type 6;   3-methylglutaconic aciduria type VI;   MEGDEL;   MEGDEL syndrome;   MGCA6
 primary_id: OMIM:614739
 alt_id: RDO:9000156
 xref: ORDO:352328
For additional species annotation, visit the Alliance of Genome Resources.


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3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serac1 serine active site containing 1 ISO ClinVar Annotator: match by OMIM:614739
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
OMIM
ClinVar
PMID:16527507, PMID:22683713, PMID:23707711, PMID:24033266, PMID:24997715, PMID:25016221, PMID:25741868, PMID:28482397, PMID:28492532, PMID:28778788, PMID:28916646, PMID:32313153 NCBI chr 1:46,934,499...46,978,264
Ensembl chr 1:46,942,192...46,978,261
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          Otorhinolaryngologic Diseases 1190
            auditory system disease 754
              Hearing Disorders 614
                Hearing Loss 609
                  Deafness 270
                    3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.