{
    "disease_id": "DOID:0070031",
    "recommended_name": {
        "id": "DOID:0070031",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070031",
        "name": "autosomal dominant intellectual developmental disorder 1",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the MBD5 gene on chromosome 2q23.1."
    },
    "synonyms": [
        {
            "id": "DOID:0070031",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070031",
            "name": "MRD1",
            "description": ""
        },
        {
            "id": "DOID:0070031",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070031",
            "name": "autosomal dominant mental retardation 1",
            "description": ""
        },
        {
            "id": "DOID:0070031",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070031",
            "name": "autosomal dominant non-syndromic intellectual disability 1",
            "description": ""
        },
        {
            "id": "MONDO:0007974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007974",
            "name": "intellectual disability, autosomal dominant 1",
            "description": "An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures."
        },
        {
            "id": "MONDO:0007974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007974",
            "name": "MBD5 autosomal dominant non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0007974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007974",
            "name": "MRD1",
            "description": ""
        },
        {
            "id": "MONDO:0007974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007974",
            "name": "autosomal dominant intellectual disability 1",
            "description": ""
        },
        {
            "id": "MONDO:0007974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007974",
            "name": "autosomal dominant non-syndromic intellectual disability caused by mutation in MBD5",
            "description": ""
        },
        {
            "id": "MONDO:0007974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007974",
            "name": "intellectual disability, autosomal dominant 1",
            "description": ""
        },
        {
            "id": "MONDO:0007974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007974",
            "name": "intellectual disability, autosomal dominant type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007974",
            "name": "mental retardation, autosomal dominant type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007974",
            "name": "mental retardation, autosomal dominant 1",
            "description": ""
        },
        {
            "id": "MIM:156200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/156200",
            "name": "Intellectual developmental disorder, autosomal dominant 1",
            "description": "Intellectual developmental disorder, autosomal dominant 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070031"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070031",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070031",
            "categories": []
        },
        {
            "id": "MONDO:0007974",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007974",
            "categories": []
        },
        {
            "id": "MIM:156200",
            "database": "MIM",
            "url": "https://www.omim.org/entry/156200",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B1AYB6-1",
            "uniprot_ac": "B1AYB6",
            "uniprot_id": "MBD5_MOUSE",
            "refseq_ac": "NP_001277585",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methyl-CpG-binding domain protein 5",
                    "type": "recommended"
                },
                {
                    "name": "Methyl-CpG-binding protein MBD5",
                    "type": "synonym"
                },
                {
                    "name": "methyl-CpG-binding domain protein 5 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "methyl-CpG-binding protein MBD5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mbd5",
                    "type": "recommended"
                },
                {
                    "name": "9430004D19Rik",
                    "type": "synonym"
                },
                {
                    "name": "C030040A15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gm1630",
                    "type": "synonym"
                },
                {
                    "name": "Mbd5",
                    "type": "synonym"
                }
            ],
            "record_id": "B1AYB6-1",
            "evidence": [
                {
                    "id": "0070031",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070031"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9P267-1",
            "uniprot_ac": "Q9P267",
            "uniprot_id": "MBD5_HUMAN",
            "refseq_ac": "NP_060798",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methyl-CpG-binding domain protein 5",
                    "type": "recommended"
                },
                {
                    "name": "Methyl-CpG-binding protein MBD5",
                    "type": "synonym"
                },
                {
                    "name": "methyl-CpG-binding domain protein 5 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "methyl-CpG-binding protein MBD5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MBD5",
                    "type": "recommended"
                },
                {
                    "name": "C2DELq23.1",
                    "type": "synonym"
                },
                {
                    "name": "DEL2Q23.1",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1461",
                    "type": "synonym"
                },
                {
                    "name": "MBD5",
                    "type": "synonym"
                },
                {
                    "name": "MRD1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9P267-1",
            "evidence": [
                {
                    "id": "156200",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/156200"
                },
                {
                    "id": "0070031",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070031"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A1B0GWQ8-1",
            "uniprot_ac": "A0A1B0GWQ8",
            "uniprot_id": "A0A1B0GWQ8_RAT",
            "refseq_ac": "XP_056841390",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methyl-CpG-binding domain protein 5",
                    "type": "recommended"
                },
                {
                    "name": "Methyl-CpG-binding protein MBD5",
                    "type": "synonym"
                },
                {
                    "name": "methyl-CpG-binding domain protein 5 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mbd5",
                    "type": "recommended"
                },
                {
                    "name": "Mbd5",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A1B0GWQ8-1",
            "evidence": [
                {
                    "id": "0070031",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070031"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8JR92-1",
            "uniprot_ac": "A8JR92",
            "uniprot_id": "MBD56_DROME",
            "refseq_ac": "NP_001097893",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methyl-CpG-binding domain protein 5/6 homolog sba",
                    "type": "recommended"
                },
                {
                    "name": "CG13598-PD",
                    "type": "synonym"
                },
                {
                    "name": "Protein six-banded",
                    "type": "synonym"
                },
                {
                    "name": "TF125 type II",
                    "type": "synonym"
                },
                {
                    "name": "dMBD5/6",
                    "type": "synonym"
                },
                {
                    "name": "methyl-CpG-binding domain protein 5/6",
                    "type": "synonym"
                },
                {
                    "name": "sba-PD",
                    "type": "synonym"
                },
                {
                    "name": "six-banded, isoform D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sba",
                    "type": "recommended"
                },
                {
                    "name": "6",
                    "type": "synonym"
                },
                {
                    "name": "AAF56201",
                    "type": "synonym"
                },
                {
                    "name": "CG13598",
                    "type": "synonym"
                },
                {
                    "name": "DMTF125",
                    "type": "synonym"
                },
                {
                    "name": "Dm Sba",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13598",
                    "type": "synonym"
                },
                {
                    "name": "F125",
                    "type": "synonym"
                },
                {
                    "name": "MBD5",
                    "type": "synonym"
                },
                {
                    "name": "SBA",
                    "type": "synonym"
                },
                {
                    "name": "TF125",
                    "type": "synonym"
                },
                {
                    "name": "Tf125",
                    "type": "synonym"
                },
                {
                    "name": "dMBD5/6",
                    "type": "synonym"
                },
                {
                    "name": "sba",
                    "type": "synonym"
                }
            ],
            "record_id": "A8JR92-1",
            "evidence": [
                {
                    "id": "0070031",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070031"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070031"
}