{
    "disease_id": "DOID:0050800",
    "recommended_name": {
        "id": "DOID:0050800",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050800",
        "name": "cerebral creatine deficiency syndrome 1",
        "description": "A cerebral creatine deficiency syndrome that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the SLC6A8 gene on chromosome Xq28."
    },
    "synonyms": [
        {
            "id": "DOID:0050800",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050800",
            "name": "CEREBRAL CREATINE DEFICIENCY SYNDROME 1",
            "description": ""
        },
        {
            "id": "DOID:0050800",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050800",
            "name": "SLC6A8 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0050800",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050800",
            "name": "creatine transporter deficiency",
            "description": ""
        },
        {
            "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_list": [
        "DOID:0050800"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050800",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050800",
            "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": "A0A8M1P953-1",
            "uniprot_ac": "A0A8M1P953",
            "uniprot_id": "A0A8M1P953_DANRE",
            "refseq_ac": "NP_001314797",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transporter",
                    "type": "recommended"
                },
                {
                    "name": "ct1",
                    "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": "chot1",
                    "type": "synonym"
                },
                {
                    "name": "slc6a8",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1P953-1",
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                {
                    "id": "0050800",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050800"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VBW1-2",
            "uniprot_ac": "Q8VBW1",
            "uniprot_id": "SC6A8_MOUSE",
            "refseq_ac": "NP_001136281",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "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": "creatine transporter, 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, member 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc6a8",
                    "type": "recommended"
                },
                {
                    "name": "CRTR",
                    "type": "synonym"
                },
                {
                    "name": "CRT",
                    "type": "synonym"
                },
                {
                    "name": "CT1",
                    "type": "synonym"
                },
                {
                    "name": "CTR5",
                    "type": "synonym"
                },
                {
                    "name": "Creat",
                    "type": "synonym"
                },
                {
                    "name": "Crt",
                    "type": "synonym"
                },
                {
                    "name": "Slc6a8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VBW1-2",
            "evidence": [
                {
                    "id": "0050800",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050800"
                }
            ]
        },
        {
            "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"
                },
                {
                    "id": "0050800",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050800"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28570-1",
            "uniprot_ac": "P28570",
            "uniprot_id": "SC6A8_RAT",
            "refseq_ac": "NP_059044",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium- and chloride-dependent creatine transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "CHOT1",
                    "type": "synonym"
                },
                {
                    "name": "CT1",
                    "type": "synonym"
                },
                {
                    "name": "Creatine transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 6 member 8",
                    "type": "synonym"
                },
                {
                    "name": "choline transporter",
                    "type": "synonym"
                },
                {
                    "name": "creatine transporter 1",
                    "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": "CHOT1",
                    "type": "synonym"
                },
                {
                    "name": "CHT1",
                    "type": "synonym"
                },
                {
                    "name": "CRT",
                    "type": "synonym"
                },
                {
                    "name": "CT1",
                    "type": "synonym"
                },
                {
                    "name": "Slc6a8",
                    "type": "synonym"
                }
            ],
            "record_id": "P28570-1",
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                {
                    "id": "0050800",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050800"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z8V9-1",
            "uniprot_ac": "A1Z8V9",
            "uniprot_id": "A1Z8V9_DROME",
            "refseq_ac": "NP_725122",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transporter",
                    "type": "recommended"
                },
                {
                    "name": "CG8850-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG8850",
                    "type": "recommended"
                },
                {
                    "name": "CG8850",
                    "type": "synonym"
                },
                {
                    "name": "DmNAT4",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8850",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8850",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050800",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050800"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050800"
}