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ONTOLOGY REPORT - ANNOTATIONS


Term:cerebral creatine deficiency syndrome
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Accession:DOID:0050798 term browser browse the term
Definition:An amino acid metabolic disorder that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the creatine transporter gene on chromosome Xq28. (DO)
Synonyms:primary_id: RDO:9004404
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cerebral creatine deficiency syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gamt guanidinoacetate N-methyltransferase JBrowse link 7 12,314,848 12,317,998 RGD:8554872
AGAT deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Duox1 dual oxidase 1 JBrowse link 3 114,251,794 114,286,827 RGD:8554872
G Duox2 dual oxidase 2 JBrowse link 3 114,218,187 114,237,808 RGD:8554872
G Duoxa1 dual oxidase maturation factor 1 JBrowse link 3 114,241,057 114,251,720 RGD:8554872
G Duoxa2 dual oxidase maturation factor 2 JBrowse link 3 114,236,718 114,240,086 RGD:8554872
G Gatm glycine amidinotransferase JBrowse link 3 114,711,570 114,728,155 RGD:7240710
RGD:8554872
G Shf Src homology 2 domain containing F JBrowse link 3 114,288,021 114,307,334 RGD:8554872
G Slc28a2 solute carrier family 28 member 2 JBrowse link 3 114,355,003 114,647,382 RGD:8554872
G Sord sorbitol dehydrogenase JBrowse link 3 114,176,127 114,207,368 RGD:8554872
G Terb2 telomere repeat binding bouquet formation protein 2 JBrowse link 3 114,129,387 114,147,943 RGD:8554872
creatine transporter deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc6a8 solute carrier family 6 member 8 JBrowse link X 157,129,987 157,139,321 RGD:7240710
RGD:8554872
RGD:11554173
guanidinoacetate methyltransferase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gamt guanidinoacetate N-methyltransferase JBrowse link 7 12,314,848 12,317,998 RGD:7240710
RGD:8554872
RGD:11554173
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 JBrowse link 7 12,318,776 12,326,403 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      cerebral creatine deficiency syndrome 12
        AGAT deficiency 9
        creatine transporter deficiency 1
        guanidinoacetate methyltransferase deficiency 2
Path 2
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          inherited metabolic disorder 1807
            amino acid metabolic disorder 337
              cerebral creatine deficiency syndrome 12
                AGAT deficiency 9
                creatine transporter deficiency 1
                guanidinoacetate methyltransferase deficiency 2
paths to the root