{
    "disease_id": "DOID:0081181",
    "recommended_name": {
        "id": "DOID:0081181",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081181",
        "name": "autosomal recessive intellectual developmental disorder 5",
        "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the NSUN2 gene on chromosome 5p15."
    },
    "synonyms": [
        {
            "id": "MONDO:0012613",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012613",
            "name": "intellectual disability, autosomal recessive 5",
            "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NSUN2 gene."
        },
        {
            "id": "MONDO:0012613",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012613",
            "name": "NSUN2 autosomal recessive non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0012613",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012613",
            "name": "autosomal recessive non-syndromic intellectual disability caused by mutation in NSUN2",
            "description": ""
        },
        {
            "id": "MONDO:0012613",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012613",
            "name": "intellectual disability, autosomal recessive 5",
            "description": ""
        },
        {
            "id": "MONDO:0012613",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012613",
            "name": "intellectual disability, autosomal recessive type 5",
            "description": ""
        },
        {
            "id": "MONDO:0012613",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012613",
            "name": "mental retardation, autosomal recessive type 5",
            "description": ""
        },
        {
            "id": "MONDO:0012613",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012613",
            "name": "MRT5",
            "description": ""
        },
        {
            "id": "MONDO:0012613",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012613",
            "name": "mental retardation, autosomal recessive 5",
            "description": ""
        },
        {
            "id": "MIM:611091",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611091",
            "name": "Intellectual developmental disorder, autosomal recessive 5",
            "description": "Intellectual developmental disorder, autosomal recessive 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081181"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081181",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081181",
            "categories": []
        },
        {
            "id": "MONDO:0012613",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012613",
            "categories": []
        },
        {
            "id": "MIM:611091",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611091",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q1HFZ0-1",
            "uniprot_ac": "Q1HFZ0",
            "uniprot_id": "NSUN2_MOUSE",
            "refseq_ac": "NP_663329",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "RNA cytosine C(5)-methyltransferase NSUN2",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.203",
                    "type": "synonym"
                },
                {
                    "name": "Misu",
                    "type": "synonym"
                },
                {
                    "name": "Myc-induced SUN domain containing protein",
                    "type": "synonym"
                },
                {
                    "name": "Myc-induced SUN domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "NOL1/NOP2/Sun domain family 2",
                    "type": "synonym"
                },
                {
                    "name": "NOL1/NOP2/Sun domain family member 2",
                    "type": "synonym"
                },
                {
                    "name": "RNA cytosine C(5)-methyltransferase NSUN2",
                    "type": "synonym"
                },
                {
                    "name": "mRNA cytosine C(5)-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "myc-induced SUN domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (cytosine(34)-C(5))-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (cytosine-5-)-methyltransferase NSUN2",
                    "type": "synonym"
                },
                {
                    "name": "tRNA cytosine C(5)-methyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nsun2",
                    "type": "recommended"
                },
                {
                    "name": "D13Wsu123e",
                    "type": "synonym"
                },
                {
                    "name": "Misu",
                    "type": "synonym"
                },
                {
                    "name": "Nsun2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1HFZ0-1",
            "evidence": [
                {
                    "id": "0081181",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081181"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08J23-1",
            "uniprot_ac": "Q08J23",
            "uniprot_id": "NSUN2_HUMAN",
            "refseq_ac": "NP_001180384",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "RNA cytosine C(5)-methyltransferase NSUN2",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.203",
                    "type": "synonym"
                },
                {
                    "name": "5-methycytoisine methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Misu",
                    "type": "synonym"
                },
                {
                    "name": "Myc-induced SUN domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "Myc-induced SUN-domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "NOL1/NOP2/Sun domain family member 2",
                    "type": "synonym"
                },
                {
                    "name": "NOL1/NOP2/Sun domain family, member 2",
                    "type": "synonym"
                },
                {
                    "name": "NOP2/Sun RNA methyltransferase family member 2",
                    "type": "synonym"
                },
                {
                    "name": "RNA cytosine C(5)-methyltransferase NSUN2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "RNA cytosine C(5)-methyltransferase NSUN2",
                    "type": "synonym"
                },
                {
                    "name": "Substrate of AIM1/Aurora kinase B",
                    "type": "synonym"
                },
                {
                    "name": "hTrm4",
                    "type": "synonym"
                },
                {
                    "name": "mRNA cytosine C(5)-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "myc-induced SUN domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "substrate of AIM1/Aurora kinase B",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (cytosine(34)-C(5))-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (cytosine-5-)-methyltransferase NSUN2",
                    "type": "synonym"
                },
                {
                    "name": "tRNA cytosine C(5)-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA methyltransferase 4 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NSUN2",
                    "type": "recommended"
                },
                {
                    "name": "MISU",
                    "type": "synonym"
                },
                {
                    "name": "MRT5",
                    "type": "synonym"
                },
                {
                    "name": "NSUN2",
                    "type": "synonym"
                },
                {
                    "name": "SAKI",
                    "type": "synonym"
                },
                {
                    "name": "TRM4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08J23-1",
            "evidence": [
                {
                    "id": "611091",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611091"
                },
                {
                    "id": "0081181",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081181"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38205-1",
            "uniprot_ac": "P38205",
            "uniprot_id": "NCL1_YEAST",
            "refseq_ac": "NP_009529",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Multisite-specific tRNA:(cytosine-C(5))-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.202",
                    "type": "synonym"
                },
                {
                    "name": "Multisite-specific tRNA:m5C-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (cytosine-5-)-methyltransferase NCL1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (cytosine-C5-)-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA methyltransferase 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NCL1",
                    "type": "recommended"
                },
                {
                    "name": "NCL1",
                    "type": "synonym"
                },
                {
                    "name": "TRM4",
                    "type": "synonym"
                },
                {
                    "name": "YBL0437",
                    "type": "synonym"
                }
            ],
            "record_id": "P38205-1",
            "evidence": [
                {
                    "id": "0081181",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081181"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A3S8-1",
            "uniprot_ac": "D4A3S8",
            "uniprot_id": "D4A3S8_RAT",
            "refseq_ac": "NP_001101873",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA (cytosine(34)-C(5))-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.203",
                    "type": "synonym"
                },
                {
                    "name": "NOL1/NOP2/Sun domain family member 2",
                    "type": "synonym"
                },
                {
                    "name": "NOL1/NOP2/Sun domain family, member 2",
                    "type": "synonym"
                },
                {
                    "name": "NOP2/Sun RNA methyltransferase family, member 2",
                    "type": "synonym"
                },
                {
                    "name": "RNA cytosine C(5)-methyltransferase NSUN2",
                    "type": "synonym"
                },
                {
                    "name": "mRNA cytosine C(5)-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (cytosine(34)-C(5))-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (cytosine-5-)-methyltransferase NSUN2",
                    "type": "synonym"
                },
                {
                    "name": "tRNA cytosine C(5)-methyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nsun2",
                    "type": "recommended"
                },
                {
                    "name": "Nsun2",
                    "type": "synonym"
                },
                {
                    "name": "RGD1311954",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A3S8-1",
            "evidence": [
                {
                    "id": "0081181",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081181"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W4M9-1",
            "uniprot_ac": "Q9W4M9",
            "uniprot_id": "NSUN2_DROME",
            "refseq_ac": "NP_652007",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA (cytosine(34)-C(5))-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.203",
                    "type": "synonym"
                },
                {
                    "name": "CG6133-PA",
                    "type": "synonym"
                },
                {
                    "name": "NOP2-Sun domain family, member 2 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "NOP2-Sun domain family, member 2",
                    "type": "synonym"
                },
                {
                    "name": "NOP2/Sun domain family member 2 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "Nsun2-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nsun2",
                    "type": "recommended"
                },
                {
                    "name": "CG6133",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6133",
                    "type": "synonym"
                },
                {
                    "name": "EG:EG0007.9",
                    "type": "synonym"
                },
                {
                    "name": "NSUN2",
                    "type": "synonym"
                },
                {
                    "name": "NSun2",
                    "type": "synonym"
                },
                {
                    "name": "Nsun2",
                    "type": "synonym"
                },
                {
                    "name": "dNSUN2",
                    "type": "synonym"
                },
                {
                    "name": "dNsun2",
                    "type": "synonym"
                },
                {
                    "name": "nsun2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W4M9-1",
            "evidence": [
                {
                    "id": "0081181",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081181"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081181"
}