{
    "disease_id": "DOID:0050798",
    "recommended_name": {
        "id": "DOID:0050798",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050798",
        "name": "cerebral creatine deficiency syndrome",
        "description": "An amino acid metabolic disorder that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the creatine transporter gene on chromosome Xq28."
    },
    "synonyms": [
        {
            "id": "MONDO:0010305",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010305",
            "name": "creatine transporter deficiency",
            "description": "X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures."
        },
        {
            "id": "MONDO:0010305",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010305",
            "name": "SLC6A8 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010305",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010305",
            "name": "cerebral creatine deficiency syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0010305",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010305",
            "name": "cerebral creatine deficiency syndrome 1, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010305",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010305",
            "name": "cerebral creatine deficiency syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010305",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010305",
            "name": "creatine transporter deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010305",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010305",
            "name": "CCDS1",
            "description": ""
        },
        {
            "id": "MONDO:0010305",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010305",
            "name": "X-linked creatine deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010305",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010305",
            "name": "X-linked creatine deficiency syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010305",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010305",
            "name": "creatine deficiency, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010305",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010305",
            "name": "intellectual disability, X-linked with seizures, short stature and midface hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0010305",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010305",
            "name": "intellectual disability, X-linked, with creatine transport deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010305",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010305",
            "name": "mental retardation, X-linked with seizures, short stature and midface hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0010305",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010305",
            "name": "mental retardation, X-linked, with creatine Transport deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010305",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010305",
            "name": "mental retardation, X-linked, with creatine transport deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010305",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010305",
            "name": "mental retardation, X-linked, with seizures, short stature, and midface hypoplasia",
            "description": ""
        },
        {
            "id": "MIM:300352",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300352",
            "name": "Cerebral creatine deficiency syndrome 1",
            "description": "Cerebral creatine deficiency syndrome 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0050712",
            "label": "AGAT deficiency",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0050799",
            "label": "guanidinoacetate methyltransferase deficiency",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0050800",
            "label": "cerebral creatine deficiency syndrome 1",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0050799",
        "DOID:0050712",
        "DOID:0050798",
        "DOID:0050800"
    ],
    "unlinked_id_list": []
}