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ONTOLOGY REPORT - ANNOTATIONS


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: DOID:9000031;   RDO:9001327
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3-methylglutaconic aciduria type 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Htra2 HtrA serine peptidase 2 JBrowse link 4 113,883,671 113,886,833 RGD:8554872
RGD:7240710
G Loxl3 lysyl oxidase-like 3 JBrowse link 4 113,866,782 113,883,713 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        inherited metabolic disorder 1864
          3-methylglutaconic aciduria 12
            3-methylglutaconic aciduria type 8 2
Path 2
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          inherited metabolic disorder 1864
            amino acid metabolic disorder 326
              organic acidemia 48
                3-methylglutaconic aciduria 12
                  3-methylglutaconic aciduria type 8 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.