{
    "disease_id": "DOID:0061031",
    "recommended_name": {
        "id": "DOID:0061031",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061031",
        "name": "autosomal dominant intellectual developmental disorder 57",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TLK2 gene on chromosome 17q23."
    },
    "synonyms": [
        {
            "id": "MONDO:0054837",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054837",
            "name": "intellectual disability, autosomal dominant 57",
            "description": ""
        },
        {
            "id": "MONDO:0054837",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054837",
            "name": "TLK2-Related Neurodevelopmental Disorder",
            "description": ""
        },
        {
            "id": "MONDO:0054837",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054837",
            "name": "TLK2-related neurodevelopmental disorder",
            "description": ""
        },
        {
            "id": "MONDO:0054837",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054837",
            "name": "TLK2-related syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0054837",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054837",
            "name": "intellectual developmental disorder, autosomal dominant 57",
            "description": ""
        },
        {
            "id": "MONDO:0054837",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054837",
            "name": "intellectual disability, autosomal dominant 57",
            "description": ""
        },
        {
            "id": "MONDO:0054837",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054837",
            "name": "MRD57",
            "description": ""
        },
        {
            "id": "MONDO:0054837",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054837",
            "name": "mental retardation, autosomal dominant 57",
            "description": ""
        },
        {
            "id": "MIM:618050",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618050",
            "name": "Intellectual developmental disorder, autosomal dominant 57",
            "description": "Intellectual developmental disorder, autosomal dominant 57"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061031"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061031",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061031",
            "categories": []
        },
        {
            "id": "MONDO:0054837",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054837",
            "categories": []
        },
        {
            "id": "MIM:618050",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618050",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q1ECX4-1",
            "uniprot_ac": "Q1ECX4",
            "uniprot_id": "TLK2_DANRE",
            "refseq_ac": "NP_001103887",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase tousled-like 2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "PKU-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Tousled-like kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "pKU-alpha protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase tousled-like 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tlk2",
                    "type": "recommended"
                },
                {
                    "name": "tlk2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi16h09",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi30g12",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136697",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1ECX4-1",
            "evidence": [
                {
                    "id": "0061031",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061031"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O55047-1",
            "uniprot_ac": "O55047",
            "uniprot_id": "TLK2_MOUSE",
            "refseq_ac": "NP_001281260",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase tousled-like 2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "PKU-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Tousled-like kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase U-alpha",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase tousled-like 2 isoform B",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase tousled-like 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tlk2",
                    "type": "recommended"
                },
                {
                    "name": "4933403M19Rik",
                    "type": "synonym"
                },
                {
                    "name": "PKU-alpha",
                    "type": "synonym"
                },
                {
                    "name": "PKUalpha",
                    "type": "synonym"
                },
                {
                    "name": "Tlk2",
                    "type": "synonym"
                },
                {
                    "name": "Tlk",
                    "type": "synonym"
                }
            ],
            "record_id": "O55047-1",
            "evidence": [
                {
                    "id": "0061031",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061031"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86UE8-1",
            "uniprot_ac": "Q86UE8",
            "uniprot_id": "TLK2_HUMAN",
            "refseq_ac": "NP_001271262",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase tousled-like 2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "HsHPK",
                    "type": "synonym"
                },
                {
                    "name": "PKU-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Tousled-like kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase tousled-like 2 isoform C",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase tousled-like 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TLK2",
                    "type": "recommended"
                },
                {
                    "name": "HsHPK",
                    "type": "synonym"
                },
                {
                    "name": "MRD57",
                    "type": "synonym"
                },
                {
                    "name": "PKU-ALPHA",
                    "type": "synonym"
                },
                {
                    "name": "TLK2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86UE8-1",
            "evidence": [
                {
                    "id": "618050",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618050"
                },
                {
                    "id": "0061031",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061031"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LV97-1",
            "uniprot_ac": "A0ABK0LV97",
            "uniprot_id": "A0ABK0LV97_RAT",
            "refseq_ac": "XP_038942062",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "non-specific serine/threonine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase tousled-like 2 isoform X7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tlk2",
                    "type": "recommended"
                },
                {
                    "name": "Tlk2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LV97-1",
            "evidence": [
                {
                    "id": "0061031",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061031"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B7Z126-1",
            "uniprot_ac": "B7Z126",
            "uniprot_id": "B7Z126_DROME",
            "refseq_ac": "NP_001138153",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "non-specific serine/threonine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "BEST:GH17330",
                    "type": "synonym"
                },
                {
                    "name": "CG34412-PG",
                    "type": "synonym"
                },
                {
                    "name": "Tlk-PG",
                    "type": "synonym"
                },
                {
                    "name": "Tousled-like kinase, isoform G",
                    "type": "synonym"
                },
                {
                    "name": "tousled like kinase",
                    "type": "synonym"
                },
                {
                    "name": "tousled-like kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tlk",
                    "type": "recommended"
                },
                {
                    "name": "BEST:GH17330",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:GH07910",
                    "type": "synonym"
                },
                {
                    "name": "CG12462",
                    "type": "synonym"
                },
                {
                    "name": "CG2829",
                    "type": "synonym"
                },
                {
                    "name": "CG32781",
                    "type": "synonym"
                },
                {
                    "name": "CG32782",
                    "type": "synonym"
                },
                {
                    "name": "CG33219",
                    "type": "synonym"
                },
                {
                    "name": "CG34412",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG34412",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG34412",
                    "type": "synonym"
                },
                {
                    "name": "EP(X)1408",
                    "type": "synonym"
                },
                {
                    "name": "EP(X)1413",
                    "type": "synonym"
                },
                {
                    "name": "EP1408",
                    "type": "synonym"
                },
                {
                    "name": "EP1413",
                    "type": "synonym"
                },
                {
                    "name": "GH17330",
                    "type": "synonym"
                },
                {
                    "name": "TLK",
                    "type": "synonym"
                },
                {
                    "name": "Tlk",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO03040301.114",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO03040301.116",
                    "type": "synonym"
                },
                {
                    "name": "dtlk",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0054",
                    "type": "synonym"
                },
                {
                    "name": "tlk",
                    "type": "synonym"
                }
            ],
            "record_id": "B7Z126-1",
            "evidence": [
                {
                    "id": "0061031",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061031"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061031"
}