{
    "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": [],
    "crossref": [
        {
            "id": "DOID:0050798",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050798",
            "categories": []
        },
        {
            "id": "MONDO:0010305",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010305",
            "categories": []
        },
        {
            "id": "MIM:300352",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300352",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P48029-1",
            "uniprot_ac": "P48029",
            "uniprot_id": "SC6A8_HUMAN",
            "refseq_ac": "NP_001136277",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium- and chloride-dependent creatine transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "CT1",
                    "type": "synonym"
                },
                {
                    "name": "Creatine transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 6 member 8",
                    "type": "synonym"
                },
                {
                    "name": "sodium- and chloride-dependent creatine transporter 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "sodium- and chloride-dependent creatine transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 6 (neurotransmitter transporter), member 8",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 6 (neurotransmitter transporter, creatine), member 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC6A8",
                    "type": "recommended"
                },
                {
                    "name": "CCDS1",
                    "type": "synonym"
                },
                {
                    "name": "CRT-1",
                    "type": "synonym"
                },
                {
                    "name": "CRT1",
                    "type": "synonym"
                },
                {
                    "name": "CRTR",
                    "type": "synonym"
                },
                {
                    "name": "CRT",
                    "type": "synonym"
                },
                {
                    "name": "CT1",
                    "type": "synonym"
                },
                {
                    "name": "CTR5",
                    "type": "synonym"
                },
                {
                    "name": "SLC6A8",
                    "type": "synonym"
                }
            ],
            "record_id": "P48029-1",
            "evidence": [
                {
                    "id": "300352",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300352"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050798"
}