{
    "disease_id": "DOID:0050712",
    "recommended_name": {
        "id": "DOID:0050712",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050712",
        "name": "AGAT deficiency",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0050712",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050712",
            "name": "Cerebral creatine deficiency syndrome 3",
            "description": ""
        },
        {
            "id": "DOID:0050712",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050712",
            "name": "arginine glycine amidinotransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012996",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012996",
            "name": "AGAT deficiency",
            "description": "L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy."
        },
        {
            "id": "MONDO:0012996",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012996",
            "name": "AGAT deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012996",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012996",
            "name": "CCDS3",
            "description": ""
        },
        {
            "id": "MONDO:0012996",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012996",
            "name": "GATM deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012996",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012996",
            "name": "L-arginine:glycine amidinotransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012996",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012996",
            "name": "arginine:glycine amidinotransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012996",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012996",
            "name": "cerebral creatine deficiency syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0012996",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012996",
            "name": "cerebral creatine deficiency syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012996",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012996",
            "name": "creatine deficiency syndrome due to AGAT deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012996",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012996",
            "name": "disorder of glycine amidinotransferase activity",
            "description": ""
        },
        {
            "id": "MONDO:0012996",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012996",
            "name": "glycine amidinotransferase activity disease",
            "description": ""
        },
        {
            "id": "MIM:612718",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612718",
            "name": "Cerebral creatine deficiency syndrome 3",
            "description": "Cerebral creatine deficiency syndrome 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050712"
    ],
    "unlinked_id_list": []
}