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ONTOLOGY REPORT - ANNOTATIONS


Term:SEDOHEPTULOKINASE DEFICIENCY
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Accession:DOID:9001808 term browser browse the term
Definition:An autosomal recessive inborn error of metabolism characterized by increased urinary erythritol and sedoheptulose. (OMIM)
Synonyms:exact_synonym: SHPKD
 primary_id: OMIM:617213;   RDO:9001544
For additional species annotation, visit the Alliance of Genome Resources.


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SEDOHEPTULOKINASE DEFICIENCY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Shpk sedoheptulokinase JBrowse link 10 59,765,328 59,789,676 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15625
    Nutritional and Metabolic Diseases 4375
      disease of metabolism 4375
        inherited metabolic disorder 1862
          SEDOHEPTULOKINASE DEFICIENCY 1
Path 2
Term Annotations click to browse term
  disease 15625
    Developmental Diseases 8759
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7543
        genetic disease 7038
          inherited metabolic disorder 1862
            SEDOHEPTULOKINASE DEFICIENCY 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.