{
    "disease_id": "DOID:0081208",
    "recommended_name": {
        "id": "DOID:0081208",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081208",
        "name": "autosomal recessive intellectual developmental disorder 44",
        "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the METTL23 gene on chromosome 17q25."
    },
    "synonyms": [
        {
            "id": "MONDO:0014409",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014409",
            "name": "intellectual disability, autosomal recessive 44",
            "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the METTL23 gene."
        },
        {
            "id": "MONDO:0014409",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014409",
            "name": "METTL23 autosomal recessive non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0014409",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014409",
            "name": "autosomal recessive non-syndromic intellectual disability caused by mutation in METTL23",
            "description": ""
        },
        {
            "id": "MONDO:0014409",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014409",
            "name": "intellectual disability, autosomal recessive 44",
            "description": ""
        },
        {
            "id": "MONDO:0014409",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014409",
            "name": "intellectual disability, autosomal recessive type 44",
            "description": ""
        },
        {
            "id": "MONDO:0014409",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014409",
            "name": "mental retardation, autosomal recessive type 44",
            "description": ""
        },
        {
            "id": "MONDO:0014409",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014409",
            "name": "MRT44",
            "description": ""
        },
        {
            "id": "MONDO:0014409",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014409",
            "name": "mental retardation, autosomal recessive 44",
            "description": ""
        },
        {
            "id": "MIM:615942",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615942",
            "name": "Intellectual developmental disorder, autosomal recessive 44",
            "description": "Intellectual developmental disorder, autosomal recessive 44"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081208"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081208",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081208",
            "categories": []
        },
        {
            "id": "MONDO:0014409",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014409",
            "categories": []
        },
        {
            "id": "MIM:615942",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615942",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IMW2-1",
            "uniprot_ac": "A0A0R4IMW2",
            "uniprot_id": "A0A0R4IMW2_DANRE",
            "refseq_ac": "NP_001314968",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "2.1.1.319",
                    "type": "synonym"
                },
                {
                    "name": "Histone-arginine methyltransferase METTL23",
                    "type": "synonym"
                },
                {
                    "name": "histone-arginine methyltransferase METTL23",
                    "type": "synonym"
                },
                {
                    "name": "methyltransferase like 23",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mettl23",
                    "type": "recommended"
                },
                {
                    "name": "ik:tdsubc_1b12",
                    "type": "synonym"
                },
                {
                    "name": "mettl23",
                    "type": "synonym"
                },
                {
                    "name": "si:ch73-366l1.2",
                    "type": "synonym"
                },
                {
                    "name": "xx:tdsubc_1b12",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IMW2-1",
            "evidence": [
                {
                    "id": "0081208",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081208"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2AA28-1",
            "uniprot_ac": "A2AA28",
            "uniprot_id": "MET23_MOUSE",
            "refseq_ac": "NP_083141",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone-arginine methyltransferase METTL23",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.319",
                    "type": "synonym"
                },
                {
                    "name": "Methyltransferase-like protein 23",
                    "type": "synonym"
                },
                {
                    "name": "histone-arginine methyltransferase METTL23",
                    "type": "synonym"
                },
                {
                    "name": "methyltransferase-like protein 23",
                    "type": "synonym"
                },
                {
                    "name": "probable methyltransferase-like protein 23",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mettl23",
                    "type": "recommended"
                },
                {
                    "name": "1110005A03Rik",
                    "type": "synonym"
                },
                {
                    "name": "1500035B17Rik",
                    "type": "synonym"
                },
                {
                    "name": "4933424L15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mettl23",
                    "type": "synonym"
                }
            ],
            "record_id": "A2AA28-1",
            "evidence": [
                {
                    "id": "0081208",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081208"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86XA0-1",
            "uniprot_ac": "Q86XA0",
            "uniprot_id": "MET23_HUMAN",
            "refseq_ac": "NP_001073979",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone-arginine methyltransferase METTL23",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.319",
                    "type": "synonym"
                },
                {
                    "name": "Methyltransferase-like protein 23",
                    "type": "synonym"
                },
                {
                    "name": "histone-arginine methyltransferase METTL23 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "histone-arginine methyltransferase METTL23",
                    "type": "synonym"
                },
                {
                    "name": "methyltransferase like 23",
                    "type": "synonym"
                },
                {
                    "name": "methyltransferase-like protein 23",
                    "type": "synonym"
                },
                {
                    "name": "probable methyltransferase-like protein 23",
                    "type": "synonym"
                },
                {
                    "name": "spike binding protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "METTL23",
                    "type": "recommended"
                },
                {
                    "name": "C17orf95",
                    "type": "synonym"
                },
                {
                    "name": "METTL23",
                    "type": "synonym"
                },
                {
                    "name": "MRT44",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86XA0-1",
            "evidence": [
                {
                    "id": "615942",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615942"
                },
                {
                    "id": "0081208",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081208"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5RJL2-1",
            "uniprot_ac": "Q5RJL2",
            "uniprot_id": "MET23_RAT",
            "refseq_ac": "NP_001008284",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone-arginine methyltransferase METTL23",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.319",
                    "type": "synonym"
                },
                {
                    "name": "Methyltransferase-like protein 23",
                    "type": "synonym"
                },
                {
                    "name": "histone-arginine methyltransferase METTL23",
                    "type": "synonym"
                },
                {
                    "name": "methyltransferase like 23",
                    "type": "synonym"
                },
                {
                    "name": "methyltransferase-like protein 23",
                    "type": "synonym"
                },
                {
                    "name": "probable methyltransferase-like protein 23",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mettl23",
                    "type": "recommended"
                },
                {
                    "name": "Mettl23",
                    "type": "synonym"
                },
                {
                    "name": "RGD1306284",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5RJL2-1",
            "evidence": [
                {
                    "id": "0081208",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081208"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VEZ4-1",
            "uniprot_ac": "Q9VEZ4",
            "uniprot_id": "Q9VEZ4_DROME",
            "refseq_ac": "NP_650520",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone-arginine methyltransferase METTL23",
                    "type": "recommended"
                },
                {
                    "name": "CG5013-PA",
                    "type": "synonym"
                },
                {
                    "name": "Methyltransferase-like protein 23",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG5013",
                    "type": "recommended"
                },
                {
                    "name": "CG5013",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5013",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5013",
                    "type": "synonym"
                },
                {
                    "name": "METTL23",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VEZ4-1",
            "evidence": [
                {
                    "id": "0081208",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081208"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081208"
}