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RGD uses the Human Disease Ontology (DO, 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.

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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;   OMIM:236130
 xref: GARD:2730;   NCI:C125661
For additional species annotation, visit the Alliance of Genome Resources.

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homocarnosinosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cndp1 carnosine dipeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:4172777 NCBI chr18:81,466,717...81,512,841
Ensembl chr18:81,466,716...81,499,051
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    Nutritional and Metabolic Diseases 5527
      disease of metabolism 5527
        inherited metabolic disorder 2615
          Metabolic Brain Diseases, Inborn 539
            homocarnosinosis 1
Path 2
Term Annotations click to browse term
  disease 17150
    Developmental Disease 10920
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9451
        genetic disease 8954
          inherited metabolic disorder 2615
            amino acid metabolic disorder 447
              gamma-amino butyric acid metabolism disorder 10
                homocarnosinosis 1
paths to the root