{
    "disease_id": "DOID:0112034",
    "recommended_name": {
        "id": "DOID:0112034",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112034",
        "name": "non-syndromic X-linked intellectual disability 9",
        "description": "A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability that has_material_basis_in hemizygous mutation in the FTSJ1 gene on chromosome Xp11.23."
    },
    "synonyms": [
        {
            "id": "DOID:0112034",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112034",
            "name": "MRX44",
            "description": ""
        },
        {
            "id": "DOID:0112034",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112034",
            "name": "MRX9",
            "description": ""
        },
        {
            "id": "DOID:0112034",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112034",
            "name": "X-linked mental retardation 44",
            "description": ""
        },
        {
            "id": "DOID:0112034",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112034",
            "name": "X-linked mental retardation 9",
            "description": ""
        },
        {
            "id": "MONDO:0010660",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010660",
            "name": "intellectual disability, X-linked 9",
            "description": "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FTSJ1 gene."
        },
        {
            "id": "MONDO:0010660",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010660",
            "name": "FTSJ1 non-syndromic X-linked intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0010660",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010660",
            "name": "intellectual developmental disorder, X-linked 9, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010660",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010660",
            "name": "intellectual disability, X-linked 9",
            "description": ""
        },
        {
            "id": "MONDO:0010660",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010660",
            "name": "intellectual disability, X-linked type 9",
            "description": ""
        },
        {
            "id": "MONDO:0010660",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010660",
            "name": "mental retardation, X-linked type 9",
            "description": ""
        },
        {
            "id": "MONDO:0010660",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010660",
            "name": "non-syndromic X-linked intellectual disability caused by mutation in FTSJ1",
            "description": ""
        },
        {
            "id": "MONDO:0010660",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010660",
            "name": "MRX9",
            "description": ""
        },
        {
            "id": "MONDO:0010660",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010660",
            "name": "mental retardation, X-linked 44",
            "description": ""
        },
        {
            "id": "MONDO:0010660",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010660",
            "name": "mental retardation, X-linked 9",
            "description": ""
        },
        {
            "id": "MIM:309549",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/309549",
            "name": "Intellectual developmental disorder, X-linked 9",
            "description": "Intellectual developmental disorder, X-linked 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112034"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112034",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112034",
            "categories": []
        },
        {
            "id": "MONDO:0010660",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010660",
            "categories": []
        },
        {
            "id": "MIM:309549",
            "database": "MIM",
            "url": "https://www.omim.org/entry/309549",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8CBC7-1",
            "uniprot_ac": "Q8CBC7",
            "uniprot_id": "TRM7_MOUSE",
            "refseq_ac": "NP_598752",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2'-O-ribose RNA methyltransferase TRM7 homolog",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.205",
                    "type": "synonym"
                },
                {
                    "name": "FtsJ RNA methyltransferase homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein ftsJ homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "protein ftsJ homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ftsj1",
                    "type": "recommended"
                },
                {
                    "name": "Ftsj1",
                    "type": "synonym"
                },
                {
                    "name": "Ftsjl",
                    "type": "synonym"
                },
                {
                    "name": "Ftsj",
                    "type": "synonym"
                },
                {
                    "name": "Sfc12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CBC7-1",
            "evidence": [
                {
                    "id": "0112034",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112034"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UET6-1",
            "uniprot_ac": "Q9UET6",
            "uniprot_id": "TRM7_HUMAN",
            "refseq_ac": "NP_001269086",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2'-O-ribose RNA methyltransferase TRM7 homolog",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.205",
                    "type": "synonym"
                },
                {
                    "name": "FtsJ RNA methyltransferase homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "FtsJ-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein ftsJ homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "cell division protein",
                    "type": "synonym"
                },
                {
                    "name": "putative ribosomal RNA methyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "rRNA (uridine-2'-O-)-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform c",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA methyltransferase 7 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FTSJ1",
                    "type": "recommended"
                },
                {
                    "name": "CDLIV",
                    "type": "synonym"
                },
                {
                    "name": "FTSJ1",
                    "type": "synonym"
                },
                {
                    "name": "JM23",
                    "type": "synonym"
                },
                {
                    "name": "MRX44",
                    "type": "synonym"
                },
                {
                    "name": "MRX9",
                    "type": "synonym"
                },
                {
                    "name": "SPB1",
                    "type": "synonym"
                },
                {
                    "name": "TRMT7",
                    "type": "synonym"
                },
                {
                    "name": "XLID9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UET6-1",
            "evidence": [
                {
                    "id": "309549",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/309549"
                },
                {
                    "id": "0112034",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112034"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38238-1",
            "uniprot_ac": "P38238",
            "uniprot_id": "TRM7_YEAST",
            "refseq_ac": "NP_009617",
            "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 (cytidine(32)/guanosine(34)-2'-O)-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2'-O-ribose RNA methyltransferase TRM7",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.205",
                    "type": "synonym"
                },
                {
                    "name": "tRNA methylase 7",
                    "type": "synonym"
                },
                {
                    "name": "tRNA methyltransferase TRM7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRM7",
                    "type": "recommended"
                },
                {
                    "name": "TRM7",
                    "type": "synonym"
                },
                {
                    "name": "YBR0527",
                    "type": "synonym"
                }
            ],
            "record_id": "P38238-1",
            "evidence": [
                {
                    "id": "0112034",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112034"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZZA1-1",
            "uniprot_ac": "D3ZZA1",
            "uniprot_id": "D3ZZA1_RAT",
            "refseq_ac": "XP_006256811",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2'-O-ribose RNA methyltransferase TRM7 homolog",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.205",
                    "type": "synonym"
                },
                {
                    "name": "Protein ftsJ homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ftsj1",
                    "type": "recommended"
                },
                {
                    "name": "FTSJ1",
                    "type": "synonym"
                },
                {
                    "name": "Ftsj1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1561061",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZZA1-1",
            "evidence": [
                {
                    "id": "0112034",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112034"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VDD9-1",
            "uniprot_ac": "Q9VDD9",
            "uniprot_id": "TRM72_DROME",
            "refseq_ac": "NP_650947",
            "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 (guanosine(34)-2'-O)-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2'-O-ribose RNA methyltransferase TRM7 homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.207",
                    "type": "synonym"
                },
                {
                    "name": "CG7009-PA",
                    "type": "synonym"
                },
                {
                    "name": "Trm7-34-PA",
                    "type": "synonym"
                },
                {
                    "name": "tRNA methyltransferase 7-34",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trm7-34",
                    "type": "recommended"
                },
                {
                    "name": "CG7009",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7009",
                    "type": "synonym"
                },
                {
                    "name": "Trm7-34",
                    "type": "synonym"
                },
                {
                    "name": "Trm7_34",
                    "type": "synonym"
                },
                {
                    "name": "dTrm7_34",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VDD9-1",
            "evidence": [
                {
                    "id": "0112034",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112034"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VEP1-1",
            "uniprot_ac": "Q9VEP1",
            "uniprot_id": "TRM71_DROME",
            "refseq_ac": "NP_650590",
            "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 (cytidine(32)-2'-O)-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2'-O-ribose RNA methyltransferase TRM7 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "CG5220-PA",
                    "type": "synonym"
                },
                {
                    "name": "Trm7-32-PA",
                    "type": "synonym"
                },
                {
                    "name": "tRNA methyltransferase 7-32",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trm7-32",
                    "type": "recommended"
                },
                {
                    "name": "CG5220",
                    "type": "synonym"
                },
                {
                    "name": "Dm TRM7",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5220",
                    "type": "synonym"
                },
                {
                    "name": "Trm7-32",
                    "type": "synonym"
                },
                {
                    "name": "Trm7_32",
                    "type": "synonym"
                },
                {
                    "name": "dTrm7_32",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VEP1-1",
            "evidence": [
                {
                    "id": "0112034",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112034"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112034"
}