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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: MIM: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 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25531304 PMID:25741868 PMID:27208207 More... NCBI chr 4:117,114,631...117,117,793
Ensembl chr 4:117,114,633...117,117,793 		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:25531304 PMID:25741868 PMID:27208207 More... NCBI chr 4:117,098,358...117,114,673
Ensembl chr 4:117,099,635...117,115,046 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal recessive disease 7090
                3-methylglutaconic aciduria type 8 2
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          inherited metabolic disorder 6673
            amino acid metabolic disorder 1595
              organic acidemia 388
                3-methylglutaconic aciduria 154
                  3-methylglutaconic aciduria type 8 2
paths to the root