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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: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
For additional species annotation, visit the Alliance of Genome Resources.


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Beta-Hydroxyisobutyryl CoA Deacylase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO ClinVar Annotator: match by OMIM:250620
ClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiency
ClinVar Annotator: match by term: Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
OMIM
ClinVar
PMID:7122152 PMID:17160907 PMID:24033266 PMID:24299452 PMID:25251209 PMID:25591832 PMID:25741868 PMID:26026795 PMID:26163321 PMID:27435318 PMID:27896122 PMID:28454995 PMID:28492532 NCBI chr 9:53,446,185...53,526,727
Ensembl chr 9:53,446,194...53,526,728
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        Congenital Abnormalities 4762
          Multiple Abnormalities 1764
            Beta-Hydroxyisobutyryl CoA Deacylase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 16122
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          inherited metabolic disorder 2235
            amino acid metabolic disorder 433
              Beta-Hydroxyisobutyryl CoA Deacylase Deficiency 1
paths to the root