{
    "disease_id": "DOID:0070757",
    "recommended_name": {
        "id": "DOID:0070757",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070757",
        "name": "Pilarowski-Bjornsson syndrome",
        "description": "An autosomal dominant intellectual developmental disorder characterized by delayed development, impaired intellectual development, speech apraxia, and mild dysmorphic features that has_material_basis_in heterozygous mutation in the CHD1 gene on chromosome 5q."
    },
    "synonyms": [
        {
            "id": "MONDO:0060568",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060568",
            "name": "Pilarowski-Bjornsson syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0060568",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060568",
            "name": "Pilarowski-Bjornsson syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0060568",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060568",
            "name": "PILBOS",
            "description": ""
        },
        {
            "id": "MIM:617682",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617682",
            "name": "Pilarowski-Bjornsson syndrome",
            "description": "Pilarowski-Bjornsson syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070757"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070757",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070757",
            "categories": []
        },
        {
            "id": "MONDO:0060568",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060568",
            "categories": []
        },
        {
            "id": "MIM:617682",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617682",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O14646-1",
            "uniprot_ac": "O14646",
            "uniprot_id": "CHD1_HUMAN",
            "refseq_ac": "NP_001261",
            "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 CHD1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent chromatin remodeler CHD1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent chromatin remodeler CHD1",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent helicase CHD1",
                    "type": "synonym"
                },
                {
                    "name": "CHD-1",
                    "type": "synonym"
                },
                {
                    "name": "Chromo domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "chromo domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CHD1",
                    "type": "recommended"
                },
                {
                    "name": "CHD-1",
                    "type": "synonym"
                },
                {
                    "name": "CHD1",
                    "type": "synonym"
                },
                {
                    "name": "PILBOS",
                    "type": "synonym"
                }
            ],
            "record_id": "O14646-1",
            "evidence": [
                {
                    "id": "617682",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617682"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070757"
}