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ONTOLOGY REPORT - ANNOTATIONS


Term:homocarnosinosis
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Accession:DOID:0060177 term browser browse the term
Definition:A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has_material_basis_in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine. (DO)
Synonyms:exact_synonym: carnosinase deficiency;   carnosinemia;   homocarnosinase deficiency
 primary_id: MESH:C535328
 alt_id: OMIM:212200;   RDO:0000384
 xref: GARD:2730
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homocarnosinosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cndp1 carnosine dipeptidase 1 JBrowse link 18 81,466,717 81,512,841 RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        inherited metabolic disorder 1884
          Metabolic Brain Diseases, Inborn 411
            homocarnosinosis 1
Path 2
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          inherited metabolic disorder 1884
            amino acid metabolic disorder 324
              gamma-amino butyric acid metabolism disorder 6
                homocarnosinosis 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.