{
    "disease_id": "DOID:0050799", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012999", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012999", 
            "name": "creatine deficiency syndrome due to GAMT deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012999", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012999", 
            "name": "cerebral creatine deficiency syndrome 2; CCDS2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012999", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012999", 
            "name": "CCDS2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012999", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012999", 
            "name": "GAMT deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012999", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012999", 
            "name": "disorder of guanidinoacetate N-methyltransferase activity"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012999", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012999", 
            "name": "cerebral creatine deficiency syndrome 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012999", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012999", 
            "name": "cerebral creatine deficiency syndrome type 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012999", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012999", 
            "name": "guanidinoacetate N-methyltransferase activity disease"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0050799", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0050799", 
            "name": "CEREBRAL CREATINE DEFICIENCY SYNDROME 2"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0050799", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0050799", 
            "name": "GAMT deficiency"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0050799", 
        "description": "A cerebral creatine deficiency syndrome that is characterized by severe intellectual disability, seizures, speech problems and involuntary movements, has_material_basis_in homozygous or compound heterozygous mutation in the GAMT gene on chromosome 19p13.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0050799", 
        "name": "guanidinoacetate methyltransferase deficiency"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0050799#disease-associations", 
            "id": "0050799", 
            "database": "Alliance of Genome Resources"
        }
    ]
}