ONTOLOGY REPORT - ANNOTATIONS


Term:histidinemia
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Accession:DOID:0060168 term browser browse the term
Definition:A histidine metabolism disease characterized by a deficiency of the enzyme histidase. (DO)
Synonyms:exact_synonym: Deficiency in Histidase;   HAL Deficiency;   HIS DEFICIENCY;   Histidase deficiency;   Histidine ammonia-lyase deficiency;   Hyperhistidinemia;   histidinuria;   increased histidine
 primary_id: MESH:C538320
 alt_id: OMIM:235800;   RDO:0004282
 xref: GARD:6661
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histidinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hal histidine ammonia lyase JBrowse link 7 34,326,087 34,356,413 RGD:7240710
RGD:8554872

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  disease 14823
    Nutritional and Metabolic Diseases 4250
      disease of metabolism 4250
        inherited metabolic disorder 1808
          amino acid metabolic disorder 337
            histidinemia 1
Path 2
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          inherited metabolic disorder 1808
            amino acid metabolic disorder 337
              histidine metabolism disease 1
                histidinemia 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.