{
    "disease_id": "DOID:0081232",
    "recommended_name": {
        "id": "DOID:0081232",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081232",
        "name": "autosomal recessive intellectual developmental disorder 71",
        "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ALKBH8 gene on chromosome 11q22."
    },
    "synonyms": [
        {
            "id": "MONDO:0032789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032789",
            "name": "intellectual developmental disorder, autosomal recessive 71",
            "description": ""
        },
        {
            "id": "MONDO:0032789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032789",
            "name": "MRT71",
            "description": ""
        },
        {
            "id": "MIM:618504",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618504",
            "name": "Intellectual developmental disorder, autosomal recessive 71",
            "description": "Intellectual developmental disorder, autosomal recessive 71"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081232"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081232",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081232",
            "categories": []
        },
        {
            "id": "MONDO:0032789",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032789",
            "categories": []
        },
        {
            "id": "MIM:618504",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618504",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E9QB52-1",
            "uniprot_ac": "E9QB52",
            "uniprot_id": "E9QB52_DANRE",
            "refseq_ac": "XP_009290865",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA (carboxymethyluridine(34)-5-O)-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.229",
                    "type": "synonym"
                },
                {
                    "name": "Alkylated DNA repair protein alkB homolog 8",
                    "type": "synonym"
                },
                {
                    "name": "S-adenosyl-L-methionine-dependent tRNA methyltransferase ALKBH8",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (carboxymethyluridine(34)-5-O)-methyltransferase ALKBH8 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "alkbh8",
                    "type": "recommended"
                },
                {
                    "name": "alkbh8",
                    "type": "synonym"
                }
            ],
            "record_id": "E9QB52-1",
            "evidence": [
                {
                    "id": "0081232",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081232"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80Y20-1",
            "uniprot_ac": "Q80Y20",
            "uniprot_id": "ALKB8_MOUSE",
            "refseq_ac": "NP_080579",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA (carboxymethyluridine(34)-5-O)-methyltransferase ALKBH8",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.229",
                    "type": "synonym"
                },
                {
                    "name": "Alkylated DNA repair protein alkB homolog 8",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-ketoglutarate-dependent dioxygenase ALKBH8",
                    "type": "synonym"
                },
                {
                    "name": "S-adenosyl-L-methionine-dependent tRNA methyltransferase ABH8",
                    "type": "synonym"
                },
                {
                    "name": "S-adenosyl-L-methionine-dependent tRNA methyltransferase ALKBH8",
                    "type": "synonym"
                },
                {
                    "name": "alkB, alkylation repair homolog 8",
                    "type": "synonym"
                },
                {
                    "name": "alkylated DNA repair protein alkB homolog 8",
                    "type": "synonym"
                },
                {
                    "name": "alpha-ketoglutarate-dependent dioxygenase ALKBH8",
                    "type": "synonym"
                },
                {
                    "name": "probable alpha-ketoglutarate-dependent dioxygenase ABH8",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (carboxymethyluridine(34)-5-O)-methyltransferase ABH8",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (carboxymethyluridine(34)-5-O)-methyltransferase ALKBH8 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (carboxymethyluridine(34)-5-O)-methyltransferase ALKBH8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alkbh8",
                    "type": "recommended"
                },
                {
                    "name": "4930562C03Rik",
                    "type": "synonym"
                },
                {
                    "name": "8030431D03Rik",
                    "type": "synonym"
                },
                {
                    "name": "9430088N01Rik",
                    "type": "synonym"
                },
                {
                    "name": "Abh8",
                    "type": "synonym"
                },
                {
                    "name": "Alkbh8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80Y20-1",
            "evidence": [
                {
                    "id": "0081232",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081232"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96BT7-1",
            "uniprot_ac": "Q96BT7",
            "uniprot_id": "ALKB8_HUMAN",
            "refseq_ac": "NP_620130",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA (carboxymethyluridine(34)-5-O)-methyltransferase ALKBH8",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.229",
                    "type": "synonym"
                },
                {
                    "name": "AlkB homologue 8",
                    "type": "synonym"
                },
                {
                    "name": "Alkylated DNA repair protein alkB homolog 8",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-ketoglutarate-dependent dioxygenase ALKBH8",
                    "type": "synonym"
                },
                {
                    "name": "S-adenosyl-L-methionine-dependent tRNA methyltransferase ABH8",
                    "type": "synonym"
                },
                {
                    "name": "S-adenosyl-L-methionine-dependent tRNA methyltransferase ALKBH8",
                    "type": "synonym"
                },
                {
                    "name": "alkB, alkylation repair homolog 8",
                    "type": "synonym"
                },
                {
                    "name": "alkylated DNA repair protein alkB homolog 8",
                    "type": "synonym"
                },
                {
                    "name": "alpha-ketoglutarate-dependent dioxygenase ALKBH8",
                    "type": "synonym"
                },
                {
                    "name": "probable alpha-ketoglutarate-dependent dioxygenase ABH8",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (carboxymethyluridine(34)-5-O)-methyltransferase ABH8",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (carboxymethyluridine(34)-5-O)-methyltransferase ALKBH8 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (carboxymethyluridine(34)-5-O)-methyltransferase ALKBH8",
                    "type": "synonym"
                },
                {
                    "name": "tRNA methyltransferase 9 homolog",
                    "type": "synonym"
                },
                {
                    "name": "tRNA methyltransferase 9 related",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALKBH8",
                    "type": "recommended"
                },
                {
                    "name": "ABH8",
                    "type": "synonym"
                },
                {
                    "name": "ALKBH8",
                    "type": "synonym"
                },
                {
                    "name": "MRT71",
                    "type": "synonym"
                },
                {
                    "name": "TRM9",
                    "type": "synonym"
                },
                {
                    "name": "TRMT9A",
                    "type": "synonym"
                },
                {
                    "name": "TRMT9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96BT7-1",
            "evidence": [
                {
                    "id": "618504",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618504"
                },
                {
                    "id": "0081232",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081232"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49957-1",
            "uniprot_ac": "P49957",
            "uniprot_id": "TRM9_YEAST",
            "refseq_ac": "NP_013698",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA (carboxymethyluridine(34)-5-O)-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.229",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (carboxymethyluridine(34)-5-O)-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (uracil-5-)-methyltransferase TRM9",
                    "type": "synonym"
                },
                {
                    "name": "tRNA [Um34] methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA methylase 9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRM9",
                    "type": "recommended"
                },
                {
                    "name": "KTI1",
                    "type": "synonym"
                },
                {
                    "name": "TRM9",
                    "type": "synonym"
                },
                {
                    "name": "YM9571.04",
                    "type": "synonym"
                }
            ],
            "record_id": "P49957-1",
            "evidence": [
                {
                    "id": "0081232",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081232"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LFY7-1",
            "uniprot_ac": "A0ABK0LFY7",
            "uniprot_id": "A0ABK0LFY7_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": "tRNA (carboxymethyluridine(34)-5-O)-methyltransferase ALKBH8",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.229",
                    "type": "synonym"
                },
                {
                    "name": "Alkylated DNA repair protein alkB homolog 8",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-ketoglutarate-dependent dioxygenase ALKBH8",
                    "type": "synonym"
                },
                {
                    "name": "S-adenosyl-L-methionine-dependent tRNA methyltransferase ALKBH8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alkbh8",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LFY7-1",
            "evidence": [
                {
                    "id": "0081232",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081232"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W232-1",
            "uniprot_ac": "Q9W232",
            "uniprot_id": "Q9W232_DROME",
            "refseq_ac": "NP_611690",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fe2OG dioxygenase domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG17807-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alkbh8",
                    "type": "recommended"
                },
                {
                    "name": "CG17807",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17807",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17807",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W232-1",
            "evidence": [
                {
                    "id": "0081232",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081232"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081232"
}