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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 type 8
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Accession:DOID:0070000 term browser browse the term
Definition:A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the HTRA2 gene on chromosome 2p13. (DO)
Synonyms:exact_synonym: 3-methylglutaconic aciduria type VIII;   3-methylglutaconic aciduria type VIII, MGCA8;   MGCA8
 broad_synonym: HTRA2-RELATED CONDITION
 primary_id: OMIM:617248


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3-methylglutaconic aciduria type 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htra2 HtrA serine peptidase 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 8 | ClinVar Annotator: match by term: HTRA2-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:25531304 PMID:25741868 PMID:27208207 More... NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095 		JBrowse link
G Loxl3 lysyl oxidase-like 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 8 | ClinVar Annotator: match by term: HTRA2-related condition ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:27208207 PMID:28492532 NCBI chr 4:115,540,640...115,556,958
Ensembl chr 4:115,540,685...115,557,466 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        inherited metabolic disorder 6256
          3-methylglutaconic aciduria 152
            3-methylglutaconic aciduria type 8 2
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          inherited metabolic disorder 6256
            amino acid metabolic disorder 1523
              organic acidemia 382
                3-methylglutaconic aciduria 152
                  3-methylglutaconic aciduria type 8 2
paths to the root