{
    "disease_id": "DOID:0070668",
    "recommended_name": {
        "id": "DOID:0070668",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070668",
        "name": "Snijders Blok-Campeau syndrome",
        "description": "An autosomal dominant intellectual developmental disorder characterized by global developmental delay with delayed speech acquisition, impaired intellectual development of variable severity, and hypotonia that has_material_basis_in heterozygous mutation in the CHD3 gene on chromosome 17p13."
    },
    "synonyms": [
        {
            "id": "DOID:0070668",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070668",
            "name": "SNIBCPS",
            "description": ""
        },
        {
            "id": "MONDO:0032600",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032600",
            "name": "Snijders Blok-Campeau syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0032600",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032600",
            "name": "CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0032600",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032600",
            "name": "intellectual developmental disorder with macrocephaly, speech delay, and dysmorphic facies",
            "description": ""
        },
        {
            "id": "MONDO:0032600",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032600",
            "name": "SNIBCPS",
            "description": ""
        },
        {
            "id": "MIM:618205",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618205",
            "name": "Snijders Blok-Campeau syndrome",
            "description": "Snijders Blok-Campeau syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070668"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070668",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070668",
            "categories": []
        },
        {
            "id": "MONDO:0032600",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032600",
            "categories": []
        },
        {
            "id": "MIM:618205",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618205",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q12873-1",
            "uniprot_ac": "Q12873",
            "uniprot_id": "CHD3_HUMAN",
            "refseq_ac": "NP_001005271",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent chromatin remodeler CHD3",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent chromatin remodeler CHD3 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent chromatin remodeler CHD3",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent helicase CHD3",
                    "type": "synonym"
                },
                {
                    "name": "CHD-3",
                    "type": "synonym"
                },
                {
                    "name": "Chromo domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Mi-2 autoantigen 240 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "Mi2-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger helicase-like",
                    "type": "synonym"
                },
                {
                    "name": "chromo domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "hZFH",
                    "type": "synonym"
                },
                {
                    "name": "mi-2 autoantigen 240 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger helicase-like",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger helicase",
                    "type": "synonym"
                },
                {
                    "name": "zinc-finger helicase (Snf2-like)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CHD3",
                    "type": "recommended"
                },
                {
                    "name": "CHD3",
                    "type": "synonym"
                },
                {
                    "name": "Mi-2a",
                    "type": "synonym"
                },
                {
                    "name": "Mi2-ALPHA",
                    "type": "synonym"
                },
                {
                    "name": "SNIBCPS",
                    "type": "synonym"
                },
                {
                    "name": "ZFH",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12873-1",
            "evidence": [
                {
                    "id": "618205",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618205"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070668"
}