The new version of OLS (OLS4) will be unavailable for the next few days while we resolve deployment issues.

You can continue to browse this version of OLS, but some ontologies may be out of date.

JSON

guanidinoacetate methyltransferase deficiency

Go to external page http://purl.obolibrary.org/obo/MONDO_0012999

Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations. [ Orphanet : 382 ]

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0050799 (MONDO:equivalentTo)
  • SCTID:124239003 (MONDO:equivalentTo)
  • GARD:0002578 (MONDO:equivalentTo)
  • OMIM:612736 (Orphanet:382/e)
  • ICD9:277.6 (MONDO:relatedTo)
  • MESH:C537622 (Orphanet:382/e)
  • UMLS:C0574080 (Orphanet:382/e)
  • Orphanet:382 (OMIM:612736)
Subsets

gard_rare, ordo_disease

abbreviation
CCDS2 [ MONDO : Lexical https://omim.org/entry/612736 ]
conformsTo
  • http://purl.obolibrary.org/obo/mondo/patterns/basis_in_disruption_of_process.yaml
  • http://purl.obolibrary.org/obo/mondo/patterns/disrupts_process.yaml
definition
  • Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.
exactMatch
  • https://omim.org/entry/612736
  • http://linkedlifedata.com/resource/umls/id/C0574080
  • http://www.orpha.net/ORDO/Orphanet_382
  • http://purl.obolibrary.org/obo/DOID_0050799
  • http://identifiers.org/mesh/C537622
  • http://identifiers.org/snomedct/124239003
has exact synonym
  • guanidinoacetate methyltransferase deficiency
  • cerebral creatine deficiency syndrome 2
  • guanidinoacetate N-methyltransferase activity disease
  • cerebral creatine deficiency syndrome type 2
  • GAMT deficiency
  • disorder of guanidinoacetate N-methyltransferase activity
has related synonym
  • creatine deficiency syndrome due to GAMT deficiency
  • CCDS2
id
  • MONDO:0012999
seeAlso
  • https://rarediseases.info.nih.gov/diseases/2578/guanidinoacetate-methyltransferase-deficiency