ONTOLOGY REPORT - ANNOTATIONS


Term:Beta-Hydroxyisobutyryl CoA Deacylase Deficiency
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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
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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

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  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        Congenital Abnormalities 3150
          Multiple Abnormalities 1276
            Beta-Hydroxyisobutyryl CoA Deacylase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          inherited metabolic disorder 1808
            amino acid metabolic disorder 337
              Beta-Hydroxyisobutyryl CoA Deacylase Deficiency 1
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