{
    "disease_id": "DOID:0070060",
    "recommended_name": {
        "id": "DOID:0070060",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070060",
        "name": "autosomal dominant intellectual developmental disorder 30",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ZMYND11 gene on chromosome 10p15.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070060",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070060",
            "name": "MRD30",
            "description": ""
        },
        {
            "id": "DOID:0070060",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070060",
            "name": "autosomal dominant mental retardation 30",
            "description": ""
        },
        {
            "id": "DOID:0070060",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070060",
            "name": "autosomal dominant non-syndromic intellectual disability 30",
            "description": ""
        },
        {
            "id": "MONDO:0014486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014486",
            "name": "intellectual disability, autosomal dominant 30",
            "description": "Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the ZMYND11 gene."
        },
        {
            "id": "MONDO:0014486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014486",
            "name": "MRD30",
            "description": ""
        },
        {
            "id": "MONDO:0014486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014486",
            "name": "ZMYND11 intellectual disability-expressive aphasia-facial dysmorphism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014486",
            "name": "autosomal dominant intellectual disability 30",
            "description": ""
        },
        {
            "id": "MONDO:0014486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014486",
            "name": "intellectual disability, autosomal dominant 30",
            "description": ""
        },
        {
            "id": "MONDO:0014486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014486",
            "name": "intellectual disability, autosomal dominant type 30",
            "description": ""
        },
        {
            "id": "MONDO:0014486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014486",
            "name": "intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in ZMYND11",
            "description": ""
        },
        {
            "id": "MONDO:0014486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014486",
            "name": "mental retardation, autosomal dominant type 30",
            "description": ""
        },
        {
            "id": "MONDO:0014486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014486",
            "name": "mental retardation, autosomal dominant 30",
            "description": ""
        },
        {
            "id": "MIM:616083",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616083",
            "name": "Intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities",
            "description": "Intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070060"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070060",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070060",
            "categories": []
        },
        {
            "id": "MONDO:0014486",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014486",
            "categories": []
        },
        {
            "id": "MIM:616083",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616083",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1NBV5-1",
            "uniprot_ac": "A0A8M1NBV5",
            "uniprot_id": "A0A8M1NBV5_DANRE",
            "refseq_ac": "NP_001071051",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bram1",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger MYND domain-containing protein 11",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger MYND domain-containing protein 11",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger, MYND domain containing 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "zmynd11",
                    "type": "recommended"
                },
                {
                    "name": "BS69",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi38d06",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110370",
                    "type": "synonym"
                },
                {
                    "name": "zgc:152745",
                    "type": "synonym"
                },
                {
                    "name": "zmynd11",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NBV5-1",
            "evidence": [
                {
                    "id": "0070060",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070060"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R5C8-1",
            "uniprot_ac": "Q8R5C8",
            "uniprot_id": "ZMY11_MOUSE",
            "refseq_ac": "NP_001186070",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger MYND domain-containing protein 11",
                    "type": "recommended"
                },
                {
                    "name": "zinc finger MYND domain-containing protein 11 isoform gamma",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger MYND domain-containing protein 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zmynd11",
                    "type": "recommended"
                },
                {
                    "name": "2210402G22Rik",
                    "type": "synonym"
                },
                {
                    "name": "BS69",
                    "type": "synonym"
                },
                {
                    "name": "Zmynd11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R5C8-1",
            "evidence": [
                {
                    "id": "0070060",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070060"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15326-1",
            "uniprot_ac": "Q15326",
            "uniprot_id": "ZMY11_HUMAN",
            "refseq_ac": "NP_001189393",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger MYND domain-containing protein 11",
                    "type": "recommended"
                },
                {
                    "name": "Adenovirus 5 E1A-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Bone morphogenetic protein receptor-associated molecule 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein BS69",
                    "type": "synonym"
                },
                {
                    "name": "adenovirus 5 E1A-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein receptor-associated molecule 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger MYND domain-containing protein 11 isoform c",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger MYND domain-containing protein 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ZMYND11",
                    "type": "recommended"
                },
                {
                    "name": "BRAM1",
                    "type": "synonym"
                },
                {
                    "name": "BS69",
                    "type": "synonym"
                },
                {
                    "name": "MRD30",
                    "type": "synonym"
                },
                {
                    "name": "ZMYND11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15326-1",
            "evidence": [
                {
                    "id": "616083",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616083"
                },
                {
                    "id": "0070060",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070060"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F7FKH2-1",
            "uniprot_ac": "F7FKH2",
            "uniprot_id": "F7FKH2_RAT",
            "refseq_ac": "NP_976243",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger MYND domain-containing protein 11",
                    "type": "recommended"
                },
                {
                    "name": "zinc finger MYND domain-containing protein 11 isoform beta",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger MYND domain-containing protein 11",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger, MYND domain containing 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zmynd11",
                    "type": "recommended"
                },
                {
                    "name": "BS69",
                    "type": "synonym"
                },
                {
                    "name": "Zmynd11",
                    "type": "synonym"
                }
            ],
            "record_id": "F7FKH2-1",
            "evidence": [
                {
                    "id": "0070060",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070060"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070060"
}