{
    "disease_id": "DOID:0060947",
    "recommended_name": {
        "id": "DOID:0060947",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060947",
        "name": "autosomal recessive intellectual developmental disorder 82",
        "description": "An autosomal recessive intellectual developmental disorder characterized by global developmental delay with motor and speech delay, variably impaired intellectual development, and behavioral abnormalities has_material_basis_in homozygous mutation in the NSUN6 gene on chromosome 10p12."
    },
    "synonyms": [
        {
            "id": "MONDO:0968944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0968944",
            "name": "intellectual developmental disorder, autosomal recessive 82",
            "description": ""
        },
        {
            "id": "MIM:620779",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620779",
            "name": "Intellectual developmental disorder, autosomal recessive 82",
            "description": "Intellectual developmental disorder, autosomal recessive 82"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060947"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060947",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060947",
            "categories": []
        },
        {
            "id": "MONDO:0968944",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0968944",
            "categories": []
        },
        {
            "id": "MIM:620779",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620779",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IAT4-1",
            "uniprot_ac": "A0A0R4IAT4",
            "uniprot_id": "A0A0R4IAT4_DANRE",
            "refseq_ac": "XP_005169112",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA (Cytosine(72)-C(5))-methyltransferase NSUN6 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nsun6",
                    "type": "recommended"
                },
                {
                    "name": "nsun6",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IAT4-1",
            "evidence": [
                {
                    "id": "0060947",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060947"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TS68-1",
            "uniprot_ac": "Q7TS68",
            "uniprot_id": "NSUN6_MOUSE",
            "refseq_ac": "NP_001159413",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA (cytosine(72)-C(5))-methyltransferase NSUN6",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "NOL1/NOP2/Sun domain family 6",
                    "type": "synonym"
                },
                {
                    "name": "NOL1/NOP2/Sun domain family member 6",
                    "type": "synonym"
                },
                {
                    "name": "putative methyltransferase NSUN6",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (cytosine(72)-C(5))-methyltransferase NSUN6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nsun6",
                    "type": "recommended"
                },
                {
                    "name": "4933403D21Rik",
                    "type": "synonym"
                },
                {
                    "name": "4933414E04Rik",
                    "type": "synonym"
                },
                {
                    "name": "NOPD1",
                    "type": "synonym"
                },
                {
                    "name": "Nsun6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TS68-1",
            "evidence": [
                {
                    "id": "0060947",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060947"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8TEA1-1",
            "uniprot_ac": "Q8TEA1",
            "uniprot_id": "NSUN6_HUMAN",
            "refseq_ac": "NP_872349",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA (cytosine(72)-C(5))-methyltransferase NSUN6",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "ARL5B antisense RNA 1",
                    "type": "synonym"
                },
                {
                    "name": "NOL1/NOP2/Sun and PUA domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "NOL1/NOP2/Sun domain family member 6",
                    "type": "synonym"
                },
                {
                    "name": "NOL1/NOP2/Sun domain family, member 6",
                    "type": "synonym"
                },
                {
                    "name": "NOP2/Sun RNA methyltransferase family member 6",
                    "type": "synonym"
                },
                {
                    "name": "nucleolar protein (NOL1/NOP2/sun) and PUA domains 1",
                    "type": "synonym"
                },
                {
                    "name": "putative methyltransferase NSUN6",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (cytosine(72)-C(5))-methyltransferase NSUN6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NSUN6",
                    "type": "recommended"
                },
                {
                    "name": "4933414E04Rik",
                    "type": "synonym"
                },
                {
                    "name": "ARL5B-AS1",
                    "type": "synonym"
                },
                {
                    "name": "MRT82",
                    "type": "synonym"
                },
                {
                    "name": "NOPD1",
                    "type": "synonym"
                },
                {
                    "name": "NSUN6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8TEA1-1",
            "evidence": [
                {
                    "id": "620779",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620779"
                },
                {
                    "id": "0060947",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060947"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B1WC69-1",
            "uniprot_ac": "B1WC69",
            "uniprot_id": "B1WC69_RAT",
            "refseq_ac": "NP_001100837",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "NOL1/NOP2/Sun domain family, member 6",
                    "type": "synonym"
                },
                {
                    "name": "NOP2/Sun RNA methyltransferase 6",
                    "type": "synonym"
                },
                {
                    "name": "NOP2/Sun RNA methyltransferase family member 6",
                    "type": "synonym"
                },
                {
                    "name": "nucleolar protein (NOL1/NOP2/sun) and PUA domains 1",
                    "type": "synonym"
                },
                {
                    "name": "putative methyltransferase NSUN6",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (cytosine(72)-C(5))-methyltransferase NSUN6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nsun6",
                    "type": "recommended"
                },
                {
                    "name": "Nopd1",
                    "type": "synonym"
                },
                {
                    "name": "Nsun6",
                    "type": "synonym"
                }
            ],
            "record_id": "B1WC69-1",
            "evidence": [
                {
                    "id": "0060947",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060947"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IPS4-1",
            "uniprot_ac": "Q8IPS4",
            "uniprot_id": "Q8IPS4_DROME",
            "refseq_ac": "NP_730761",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "SAM-dependent MTase RsmB/NOP-type domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG11109-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nsun6",
                    "type": "recommended"
                },
                {
                    "name": "CG11109",
                    "type": "synonym"
                },
                {
                    "name": "CT31087",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11109",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11109",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IPS4-1",
            "evidence": [
                {
                    "id": "0060947",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060947"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060947"
}