{
    "disease_id": "DOID:0080765",
    "recommended_name": {
        "id": "DOID:0080765",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080765",
        "name": "autosomal recessive intellectual developmental disorder 72",
        "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the METTL5 gene on chromosome 2q31."
    },
    "synonyms": [
        {
            "id": "DOID:0080765",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080765",
            "name": "autosomal recessive intellectual developmental disorder-72",
            "description": ""
        },
        {
            "id": "DOID:0080765",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080765",
            "name": "autosomal recessive mental retardation 72",
            "description": ""
        },
        {
            "id": "MONDO:0032860",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032860",
            "name": "intellectual developmental disorder, autosomal recessive 72",
            "description": ""
        },
        {
            "id": "MONDO:0032860",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032860",
            "name": "MRT72",
            "description": ""
        },
        {
            "id": "MIM:618665",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618665",
            "name": "Intellectual developmental disorder, autosomal recessive 72",
            "description": "Intellectual developmental disorder, autosomal recessive 72"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080765"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080765",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080765",
            "categories": []
        },
        {
            "id": "MONDO:0032860",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032860",
            "categories": []
        },
        {
            "id": "MIM:618665",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618665",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QVR8-1",
            "uniprot_ac": "F1QVR8",
            "uniprot_id": "METL5_DANRE",
            "refseq_ac": "NP_001005949",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "rRNA N(6)-adenosine-methyltransferase METTL5",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "Methyltransferase-like protein 5",
                    "type": "synonym"
                },
                {
                    "name": "methyltransferase like 5",
                    "type": "synonym"
                },
                {
                    "name": "methyltransferase-like protein 5",
                    "type": "synonym"
                },
                {
                    "name": "rRNA N(6)-adenosine-methyltransferase METTL5",
                    "type": "synonym"
                },
                {
                    "name": "rRNA N6-adenosine-methyltransferase METTL5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mettl5",
                    "type": "recommended"
                },
                {
                    "name": "im:7137598",
                    "type": "synonym"
                },
                {
                    "name": "mettl5",
                    "type": "synonym"
                },
                {
                    "name": "zgc:103655",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QVR8-1",
            "evidence": [
                {
                    "id": "0080765",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080765"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K1A0-1",
            "uniprot_ac": "Q8K1A0",
            "uniprot_id": "METL5_MOUSE",
            "refseq_ac": "NP_083556",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "rRNA N(6)-adenosine-methyltransferase METTL5",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "Methyltransferase-like protein 5",
                    "type": "synonym"
                },
                {
                    "name": "methyltransferase like 5",
                    "type": "synonym"
                },
                {
                    "name": "methyltransferase-like protein 5",
                    "type": "synonym"
                },
                {
                    "name": "rRNA N(6)-adenosine-methyltransferase METTL5",
                    "type": "synonym"
                },
                {
                    "name": "rRNA N6-adenosine-methyltransferase METTL5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mettl5",
                    "type": "recommended"
                },
                {
                    "name": "2810410A08Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mettl5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K1A0-1",
            "evidence": [
                {
                    "id": "0080765",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080765"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NRN9-1",
            "uniprot_ac": "Q9NRN9",
            "uniprot_id": "METL5_HUMAN",
            "refseq_ac": "NP_001280115",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "rRNA N(6)-adenosine-methyltransferase METTL5",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "Methyltransferase-like protein 5",
                    "type": "synonym"
                },
                {
                    "name": "methyltransferase like 5",
                    "type": "synonym"
                },
                {
                    "name": "methyltransferase-like protein 5",
                    "type": "synonym"
                },
                {
                    "name": "rRNA N(6)-adenosine-methyltransferase METTL5",
                    "type": "synonym"
                },
                {
                    "name": "rRNA N6-adenosine-methyltransferase METTL5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "METTL5",
                    "type": "recommended"
                },
                {
                    "name": "DC3",
                    "type": "synonym"
                },
                {
                    "name": "HSPC133",
                    "type": "synonym"
                },
                {
                    "name": "METTL5",
                    "type": "synonym"
                },
                {
                    "name": "MRT72",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NRN9-1",
            "evidence": [
                {
                    "id": "618665",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618665"
                },
                {
                    "id": "0080765",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080765"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AKX6-1",
            "uniprot_ac": "A0A8I6AKX6",
            "uniprot_id": "A0A8I6AKX6_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methyltransferase-like protein 5",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Mettl5",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6AKX6-1",
            "evidence": [
                {
                    "id": "0080765",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080765"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8MSW4-1",
            "uniprot_ac": "Q8MSW4",
            "uniprot_id": "METL5_DROME",
            "refseq_ac": "NP_001137973",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "rRNA N(6)-adenosine-methyltransferase Mettl5",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "CG9666-PD",
                    "type": "synonym"
                },
                {
                    "name": "Methyltransferase-like protein 5",
                    "type": "synonym"
                },
                {
                    "name": "Mettl5-PD",
                    "type": "synonym"
                },
                {
                    "name": "methyltransferase like 5, isoform D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mettl5",
                    "type": "recommended"
                },
                {
                    "name": "CG9666",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9666",
                    "type": "synonym"
                },
                {
                    "name": "Dromel_CG9666_FBtr0074991_mORF",
                    "type": "synonym"
                },
                {
                    "name": "Mettl5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8MSW4-1",
            "evidence": [
                {
                    "id": "0080765",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080765"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080765"
}