{
    "disease_id": "DOID:0070069",
    "recommended_name": {
        "id": "DOID:0070069",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070069",
        "name": "autosomal dominant intellectual developmental disorder 39",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant heterozygous mutation in the MYT1L gene on chromosome 2p25.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070069",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070069",
            "name": "MRD39",
            "description": ""
        },
        {
            "id": "DOID:0070069",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070069",
            "name": "autosomal dominant mental retardation 39",
            "description": ""
        },
        {
            "id": "DOID:0070069",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070069",
            "name": "autosomal dominant non-syndromic intellectual disability 39",
            "description": ""
        },
        {
            "id": "MONDO:0014678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014678",
            "name": "intellectual disability, autosomal dominant 39",
            "description": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MYT1L gene."
        },
        {
            "id": "MONDO:0014678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014678",
            "name": "MRD39",
            "description": ""
        },
        {
            "id": "MONDO:0014678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014678",
            "name": "MYT1L autosomal dominant non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0014678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014678",
            "name": "autosomal dominant intellectual disability 39",
            "description": ""
        },
        {
            "id": "MONDO:0014678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014678",
            "name": "autosomal dominant non-syndromic intellectual disability caused by mutation in MYT1L",
            "description": ""
        },
        {
            "id": "MONDO:0014678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014678",
            "name": "intellectual developmental disorder, autosomal dominant 39",
            "description": ""
        },
        {
            "id": "MONDO:0014678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014678",
            "name": "intellectual disability, autosomal dominant 39",
            "description": ""
        },
        {
            "id": "MONDO:0014678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014678",
            "name": "intellectual disability, autosomal dominant type 39",
            "description": ""
        },
        {
            "id": "MONDO:0014678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014678",
            "name": "mental retardation, autosomal dominant type 39",
            "description": ""
        },
        {
            "id": "MONDO:0014678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014678",
            "name": "mental retardation, autosomal dominant 39",
            "description": ""
        },
        {
            "id": "MIM:616521",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616521",
            "name": "Intellectual developmental disorder, autosomal dominant 39",
            "description": "Intellectual developmental disorder, autosomal dominant 39"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070069"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070069",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070069",
            "categories": []
        },
        {
            "id": "MONDO:0014678",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014678",
            "categories": []
        },
        {
            "id": "MIM:616521",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616521",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P97500-1",
            "uniprot_ac": "P97500",
            "uniprot_id": "MYT1L_MOUSE",
            "refseq_ac": "NP_001087244",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myelin transcription factor 1-like protein",
                    "type": "recommended"
                },
                {
                    "name": "MyT1-L",
                    "type": "synonym"
                },
                {
                    "name": "MyT1L",
                    "type": "synonym"
                },
                {
                    "name": "NZF-1",
                    "type": "synonym"
                },
                {
                    "name": "Neural zinc finger factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Postmitotic neural gene 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein Png-1",
                    "type": "synonym"
                },
                {
                    "name": "myT1-L",
                    "type": "synonym"
                },
                {
                    "name": "myelin transcription factor 1-like protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "myelin transcription factor 1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "neural zinc finger factor 1",
                    "type": "synonym"
                },
                {
                    "name": "neural zinc finger protein NZF-1",
                    "type": "synonym"
                },
                {
                    "name": "neural zinc finger transcription factor 1",
                    "type": "synonym"
                },
                {
                    "name": "postmeiotic neural gene 1",
                    "type": "synonym"
                },
                {
                    "name": "postmitotic neural gene 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein Png-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myt1l",
                    "type": "recommended"
                },
                {
                    "name": "2900046C06Rik",
                    "type": "synonym"
                },
                {
                    "name": "2900093J19Rik",
                    "type": "synonym"
                },
                {
                    "name": "C630034G21Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1106",
                    "type": "synonym"
                },
                {
                    "name": "Myt1l",
                    "type": "synonym"
                },
                {
                    "name": "Myt2",
                    "type": "synonym"
                },
                {
                    "name": "Nzf1",
                    "type": "synonym"
                },
                {
                    "name": "Nztf1",
                    "type": "synonym"
                },
                {
                    "name": "Pmng1",
                    "type": "synonym"
                },
                {
                    "name": "Png-1",
                    "type": "synonym"
                },
                {
                    "name": "Png1",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1106",
                    "type": "synonym"
                }
            ],
            "record_id": "P97500-1",
            "evidence": [
                {
                    "id": "0070069",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070069"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UL68-1",
            "uniprot_ac": "Q9UL68",
            "uniprot_id": "MYT1L_HUMAN",
            "refseq_ac": "NP_001289981",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myelin transcription factor 1-like protein",
                    "type": "recommended"
                },
                {
                    "name": "MyT1-L",
                    "type": "synonym"
                },
                {
                    "name": "MyT1L",
                    "type": "synonym"
                },
                {
                    "name": "myelin transcription factor 1-like protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "myelin transcription factor 1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "neural zinc finger transcription factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MYT1L",
                    "type": "recommended"
                },
                {
                    "name": "KIAA1106",
                    "type": "synonym"
                },
                {
                    "name": "MRD39",
                    "type": "synonym"
                },
                {
                    "name": "MYT1L",
                    "type": "synonym"
                },
                {
                    "name": "NZF1",
                    "type": "synonym"
                },
                {
                    "name": "ZC2H2C2",
                    "type": "synonym"
                },
                {
                    "name": "ZC2HC4B",
                    "type": "synonym"
                },
                {
                    "name": "myT1-L",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UL68-1",
            "evidence": [
                {
                    "id": "616521",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616521"
                },
                {
                    "id": "0070069",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070069"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70475-1",
            "uniprot_ac": "P70475",
            "uniprot_id": "MYT1L_RAT",
            "refseq_ac": "NP_446340",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myelin transcription factor 1-like protein",
                    "type": "recommended"
                },
                {
                    "name": "MyT1-L",
                    "type": "synonym"
                },
                {
                    "name": "MyT1L",
                    "type": "synonym"
                },
                {
                    "name": "NZF-1",
                    "type": "synonym"
                },
                {
                    "name": "Neural zinc finger factor 1",
                    "type": "synonym"
                },
                {
                    "name": "myT1-L",
                    "type": "synonym"
                },
                {
                    "name": "myelin transcription factor 1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "neural zinc finger factor 1",
                    "type": "synonym"
                },
                {
                    "name": "neural zinc finger transcription factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myt1l",
                    "type": "recommended"
                },
                {
                    "name": "Myt1l",
                    "type": "synonym"
                },
                {
                    "name": "Nzf-1",
                    "type": "synonym"
                },
                {
                    "name": "Nzf1",
                    "type": "synonym"
                },
                {
                    "name": "Nztf1",
                    "type": "synonym"
                }
            ],
            "record_id": "P70475-1",
            "evidence": [
                {
                    "id": "0070069",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070069"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PJ12-1",
            "uniprot_ac": "M9PJ12",
            "uniprot_id": "M9PJ12_DROME",
            "refseq_ac": "NP_001259230",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG43689-PE",
                    "type": "synonym"
                },
                {
                    "name": "Uncharacterized protein",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG15376",
                    "type": "recommended"
                },
                {
                    "name": "CG32778",
                    "type": "recommended"
                },
                {
                    "name": "CG32790",
                    "type": "recommended"
                },
                {
                    "name": "CG43284",
                    "type": "recommended"
                },
                {
                    "name": "CG4985",
                    "type": "recommended"
                },
                {
                    "name": "CG15376",
                    "type": "synonym"
                },
                {
                    "name": "CG32778",
                    "type": "synonym"
                },
                {
                    "name": "CG32790",
                    "type": "synonym"
                },
                {
                    "name": "CG43284",
                    "type": "synonym"
                },
                {
                    "name": "CG43689",
                    "type": "synonym"
                },
                {
                    "name": "CG4985",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG43689",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG43689",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PJ12-1",
            "evidence": [
                {
                    "id": "0070069",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070069"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070069"
}