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
  • SCTID:124239003 (MONDO:equivalentTo)
  • DOID:0050799 (MONDO:equivalentTo)
  • ICD10:E72.8 (Orphanet:382)
  • Orphanet:382 (OMIM:612736)
  • UMLS:C0574080 (Orphanet:382)
  • GARD:0002578 (MONDO:equivalentTo)
  • ICD9:277.6 (i2s)
  • OMIM:612736 (Orphanet:382)
  • MESH:C537622 (Orphanet:382)
Subsets

gard_rare, ordo_disease

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

http://identifiers.org/snomedct/124239003

http://purl.obolibrary.org/obo/DOID_0050799

http://linkedlifedata.com/resource/umls/id/C0574080

http://www.orpha.net/ORDO/Orphanet_382

http://identifiers.org/mesh/C537622

http://identifiers.org/omim/612736

has exact synonym

guanidinoacetate methyltransferase deficiency

guanidinoacetate N-methyltransferase activity disease

GAMT deficiency

cerebral creatine deficiency syndrome 2

disorder of guanidinoacetate N-methyltransferase activity

cerebral creatine deficiency syndrome type 2

has related synonym

CCDS2

creatine deficiency syndrome due to GAMT deficiency

id

MONDO:0012999

seeAlso

https://rarediseases.info.nih.gov/diseases/2578/guanidinoacetate-methyltransferase-deficiency