L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy. [ Orphanet : 35704 ]
This is just here as a test because I lose it
Term information
database
cross reference
- MESH:C567192 (MONDO:equivalentTo)
- SCTID:702440000 (MONDO:equivalentTo)
- Orphanet:35704 (OMIM:612718)
- DOID:0050712 (MONDO:equivalentTo)
- ICD9:270.8 (MONDO:relatedTo)
- GARD:0010323 (MONDO:equivalentTo)
- UMLS:C2675179 (Orphanet:35704)
- OMIM:612718 (Orphanet:35704/e)
Subsets
ordo_disease
conformsTo
- http://purl.obolibrary.org/obo/mondo/patterns/disrupts_process.yaml
- http://purl.obolibrary.org/obo/mondo/patterns/basis_in_disruption_of_process.yaml
definition
- L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.
exactMatch
- http://www.orpha.net/ORDO/Orphanet_35704
- http://linkedlifedata.com/resource/umls/id/C2675179
- https://omim.org/entry/612718
- http://identifiers.org/mesh/C567192
- http://identifiers.org/snomedct/702440000
- http://purl.obolibrary.org/obo/DOID_0050712
has exact synonym
- cerebral creatine deficiency syndrome type 3
- L-arginine:glycine amidinotransferase deficiency
- AGAT deficiency
- arginine:glycine amidinotransferase deficiency
- glycine amidinotransferase activity disease
- GATM deficiency
- disorder of glycine amidinotransferase activity
- cerebral creatine deficiency syndrome 3
- creatine deficiency syndrome due to AGAT deficiency
- CCDS3
id
- MONDO:0012996
Term relations
Equivalent to: