{
    "disease_id": "DOID:0050799",
    "recommended_name": {
        "id": "DOID:0050799",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050799",
        "name": "guanidinoacetate methyltransferase deficiency",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0050799",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050799",
            "name": "GAMT deficiency",
            "description": ""
        },
        {
            "id": "DOID:0050799",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050799",
            "name": "Cerebral creatine deficiency syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0012999",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012999",
            "name": "guanidinoacetate methyltransferase deficiency",
            "description": "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."
        },
        {
            "id": "MONDO:0012999",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012999",
            "name": "GAMT deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012999",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012999",
            "name": "cerebral creatine deficiency syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0012999",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012999",
            "name": "cerebral creatine deficiency syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012999",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012999",
            "name": "disorder of guanidinoacetate N-methyltransferase activity",
            "description": ""
        },
        {
            "id": "MONDO:0012999",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012999",
            "name": "guanidinoacetate N-methyltransferase activity disease",
            "description": ""
        },
        {
            "id": "MONDO:0012999",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012999",
            "name": "guanidinoacetate methyltransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012999",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012999",
            "name": "CCDS2",
            "description": ""
        },
        {
            "id": "MONDO:0012999",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012999",
            "name": "creatine deficiency syndrome due to GAMT deficiency",
            "description": ""
        },
        {
            "id": "MIM:612736",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612736",
            "name": "Cerebral creatine deficiency syndrome 2",
            "description": "Cerebral creatine deficiency syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050799"
    ],
    "unlinked_id_list": []
}