FTP Download
Chinchilla Research Resource Database
   
Keyword
  

ONTOLOGY REPORT - ANNOTATIONS


Term:Beta-Hydroxyisobutyryl CoA Deacylase Deficiency
go back to main search page
Accession:DOID:9008784 term browser browse the term
Definition:An autosomal recessive inborn error of metabolism characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia.
Synonyms:exact_synonym: 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency;   HIBCH Deficiency;   HIBCHD;   Methacrylic Acid Toxicity;   Methacrylic Aciduria;   NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL COENZYME A HYDROLASE DEFICIENCY;   Valine Metabolic Defect
 primary_id: MESH:C562803;   RDO:0012365
 alt_id: OMIM:250620
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hibch 3-hydroxyisobutyryl-CoA hydrolase JBrowse link 9 53,446,185 53,526,727 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        Congenital Abnormalities 3137
          Multiple Abnormalities 1267
            Beta-Hydroxyisobutyryl CoA Deacylase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          inherited metabolic disorder 1807
            amino acid metabolic disorder 337
              Beta-Hydroxyisobutyryl CoA Deacylase Deficiency 1
paths to the root