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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:cerebral creatine deficiency syndrome
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Accession:EFO:MONDO:0000456 term browser browse the term
Definition:Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency.
Synonyms:exact_synonym: CCDS;   CDS;   creatine deficiency syndrome
 alt_id: MONDO:0000456
 xref: DOID:0050798;   GARD:18952;   MEDGEN:1826001;   MIM:PS300352;   NANDO:1201032;   NANDO:2100226;   NANDO:2200842;   ORDO:79172;   UMLS:C5244016

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Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            hereditary neurological disease 0
              cerebral creatine deficiency syndrome 0
                AGAT deficiency 0
                Arginine:glycine amidinotransferase deficiency 0
                X-linked creatine transporter deficiency 0
                creatine transporter deficiency 0
                guanidinoacetate methyltransferase deficiency 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          nervous system disease 0
            central nervous system disease 0
              brain disease 0
                epilepsy 0
                  metabolic epilepsy 0
                    cerebral creatine deficiency syndrome 0
                      AGAT deficiency 0
                      Arginine:glycine amidinotransferase deficiency 0
                      X-linked creatine transporter deficiency 0
                      creatine transporter deficiency 0
                      guanidinoacetate methyltransferase deficiency 0
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