{
    "disease_id": "DOID:0050712", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012996", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012996", 
            "name": "cerebral creatine deficiency syndrome 3; CCDS3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012996", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012996", 
            "name": "CCDS3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012996", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012996", 
            "name": "disorder of glycine amidinotransferase activity"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012996", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012996", 
            "name": "L-arginine:glycine amidinotransferase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012996", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012996", 
            "name": "creatine deficiency syndrome due to AGAT deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012996", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012996", 
            "name": "GATM deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012996", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012996", 
            "name": "glycine amidinotransferase activity disease"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012996", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012996", 
            "name": "arginine:glycine amidinotransferase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012996", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012996", 
            "name": "cerebral creatine deficiency syndrome type 3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012996", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012996", 
            "name": "cerebral creatine deficiency syndrome 3"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0050712", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0050712", 
            "name": "CEREBRAL CREATINE DEFICIENCY SYNDROME 3"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0050712", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0050712", 
            "name": "arginine:glycine amidinotransferase deficiency"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0050712", 
        "description": "An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0050712", 
        "name": "AGAT deficiency"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0050712#disease-associations", 
            "id": "0050712", 
            "database": "Alliance of Genome Resources"
        }
    ]
}