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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:An autosomal recessive metabolic disorder resulting in death in infancy. Features include hypotonia, abnormal movements, respiratory insufficiency with apneic episodes, and lack of developmental progress, often with seizures. (OMIM)
Synonyms:exact_synonym: 3-methylglutaconic aciduria type VIII;   3-methylglutaconic aciduria type VIII, MGCA8;   MGCA8
 primary_id: OMIM:617248
 alt_id: RDO:9001327
For additional species annotation, visit the Alliance of Genome Resources.


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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 VIII
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIII
ClinVar
OMIM
PMID:25741868, PMID:27208207, PMID:27696117 NCBI chr 4:113,883,671...113,886,833
Ensembl chr 4:113,883,670...113,886,994
JBrowse link
G Loxl3 lysyl oxidase-like 3 ISO ClinVar Annotator: match by term: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII ClinVar PMID:27208207 NCBI chr 4:113,866,782...113,883,713
Ensembl chr 4:113,866,804...113,883,477
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        inherited metabolic disorder 2223
          3-methylglutaconic aciduria 12
            3-methylglutaconic aciduria type 8 2
Path 2
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          inherited metabolic disorder 2223
            amino acid metabolic disorder 432
              organic acidemia 54
                3-methylglutaconic aciduria 12
                  3-methylglutaconic aciduria type 8 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.