{
    "disease_id": "DOID:0070070",
    "recommended_name": {
        "id": "DOID:0070070",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070070",
        "name": "autosomal dominant intellectual developmental disorder 40",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant de novo heterozygous mutation in the CHAMP1 gene on chromosome 13q34."
    },
    "synonyms": [
        {
            "id": "DOID:0070070",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070070",
            "name": "MRD40",
            "description": ""
        },
        {
            "id": "DOID:0070070",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070070",
            "name": "autosomal dominant mental retardation 40",
            "description": ""
        },
        {
            "id": "DOID:0070070",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070070",
            "name": "autosomal dominant non-syndromic intellectual disability 40",
            "description": ""
        },
        {
            "id": "MONDO:0014699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014699",
            "name": "intellectual disability, autosomal dominant 40",
            "description": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CHAMP1 gene."
        },
        {
            "id": "MONDO:0014699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014699",
            "name": "CHAMP1 autosomal dominant non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0014699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014699",
            "name": "MRD40",
            "description": ""
        },
        {
            "id": "MONDO:0014699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014699",
            "name": "autosomal dominant intellectual disability 40",
            "description": ""
        },
        {
            "id": "MONDO:0014699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014699",
            "name": "autosomal dominant non-syndromic intellectual disability caused by mutation in CHAMP1",
            "description": ""
        },
        {
            "id": "MONDO:0014699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014699",
            "name": "intellectual disability, autosomal dominant 40",
            "description": ""
        },
        {
            "id": "MONDO:0014699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014699",
            "name": "intellectual disability, autosomal dominant type 40",
            "description": ""
        },
        {
            "id": "MONDO:0014699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014699",
            "name": "mental retardation, autosomal dominant type 40",
            "description": ""
        },
        {
            "id": "MONDO:0014699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014699",
            "name": "mental retardation, autosomal dominant 40",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070070"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070070",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070070",
            "categories": []
        },
        {
            "id": "MONDO:0014699",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014699",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8K327-1",
            "uniprot_ac": "Q8K327",
            "uniprot_id": "CHAP1_MOUSE",
            "refseq_ac": "NP_862902",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chromosome alignment-maintaining phosphoprotein 1",
                    "type": "recommended"
                },
                {
                    "name": "Zinc finger protein 828",
                    "type": "synonym"
                },
                {
                    "name": "chromosome alignment-maintaining phosphoprotein 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 828",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Champ1",
                    "type": "recommended"
                },
                {
                    "name": "Champ1",
                    "type": "synonym"
                },
                {
                    "name": "D8Ertd457e",
                    "type": "synonym"
                },
                {
                    "name": "D8Ertd569e",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1802",
                    "type": "synonym"
                },
                {
                    "name": "Zfp828",
                    "type": "synonym"
                },
                {
                    "name": "Znf828",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1802",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K327-1",
            "evidence": [
                {
                    "id": "0070070",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070070"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96JM3-1",
            "uniprot_ac": "Q96JM3",
            "uniprot_id": "CHAP1_HUMAN",
            "refseq_ac": "NP_001157616",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chromosome alignment-maintaining phosphoprotein 1",
                    "type": "recommended"
                },
                {
                    "name": "Zinc finger protein 828",
                    "type": "synonym"
                },
                {
                    "name": "chromosome alignment-maintaining phosphoprotein 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 828",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CHAMP1",
                    "type": "recommended"
                },
                {
                    "name": "C13orf8",
                    "type": "synonym"
                },
                {
                    "name": "CAMP",
                    "type": "synonym"
                },
                {
                    "name": "CHAMP1",
                    "type": "synonym"
                },
                {
                    "name": "CHAMP",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1802",
                    "type": "synonym"
                },
                {
                    "name": "MRD40",
                    "type": "synonym"
                },
                {
                    "name": "NEDHILD",
                    "type": "synonym"
                },
                {
                    "name": "ZNF828",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96JM3-1",
            "evidence": [
                {
                    "id": "616579",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616579"
                },
                {
                    "id": "0070070",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070070"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070070"
}