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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 term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22683713 PMID:23707711 PMID:24033266 More... NCBI chr 1:46,620,741...46,656,801
Ensembl chr 1:46,620,498...46,656,727
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18203
    syndrome 9805
      3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 1
Path 2
Term Annotations click to browse term
  disease 18203
    Pathological Conditions, Signs and Symptoms 12569
      Signs and Symptoms 10031
        Neurologic Manifestations 9248
          sensory system disease 6476
            Otorhinolaryngologic Diseases 1679
              auditory system disease 1081
                Hearing Disorders 820
                  Hearing Loss 816
                    Deafness 402
                      3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 1
paths to the root