{
    "disease_id": "DOID:0080240",
    "recommended_name": {
        "id": "DOID:0080240",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080240",
        "name": "non-syndromic X-linked intellectual disability 106",
        "description": "A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in OGT on chromosome Xq13.1."
    },
    "synonyms": [
        {
            "id": "DOID:0080240",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080240",
            "name": "X-linked mental retardation 106",
            "description": ""
        },
        {
            "id": "DOID:0080240",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080240",
            "name": "MRX106",
            "description": ""
        },
        {
            "id": "MONDO:0030907",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030907",
            "name": "intellectual disability, X-linked 106",
            "description": ""
        },
        {
            "id": "MONDO:0030907",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030907",
            "name": "intellectual developmental disorder, X-linked 106, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0030907",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030907",
            "name": "intellectual disability, X-linked 106",
            "description": ""
        },
        {
            "id": "MONDO:0030907",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030907",
            "name": "MRX106",
            "description": ""
        },
        {
            "id": "MONDO:0030907",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030907",
            "name": "X-linked mental retardation 106",
            "description": ""
        },
        {
            "id": "MONDO:0030907",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030907",
            "name": "mental retardation, X-linked 106",
            "description": ""
        },
        {
            "id": "MIM:300997",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300997",
            "name": "Intellectual developmental disorder, X-linked 106",
            "description": "Intellectual developmental disorder, X-linked 106"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080240"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080240",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080240",
            "categories": []
        },
        {
            "id": "MONDO:0030907",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030907",
            "categories": []
        },
        {
            "id": "MIM:300997",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300997",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB13A931-1",
            "uniprot_ac": "A0AB13A931",
            "uniprot_id": "A0AB13A931_DANRE",
            "refseq_ac": "NP_001373727",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.255",
                    "type": "synonym"
                },
                {
                    "name": "O-GlcNAc transferase subunit p110",
                    "type": "synonym"
                },
                {
                    "name": "O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) 2",
                    "type": "synonym"
                },
                {
                    "name": "O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) like",
                    "type": "synonym"
                },
                {
                    "name": "O-linked N-acetylglucosamine (GlcNAc) transferase, tandem duplicate 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "O-linked N-acetylglucosamine transferase 110 kDa subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ogt.2",
                    "type": "recommended"
                },
                {
                    "name": "ogt.2",
                    "type": "synonym"
                },
                {
                    "name": "ogtb",
                    "type": "synonym"
                },
                {
                    "name": "ogtl",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB13A931-1",
            "evidence": [
                {
                    "id": "0080240",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080240"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CGY8-1",
            "uniprot_ac": "Q8CGY8",
            "uniprot_id": "OGT1_MOUSE",
            "refseq_ac": "NP_001277464",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.255",
                    "type": "synonym"
                },
                {
                    "name": "O-GlcNAc transferase subunit p110",
                    "type": "synonym"
                },
                {
                    "name": "O-linked N-acetylglucosamine transferase 110 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "OGT",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ogt",
                    "type": "recommended"
                },
                {
                    "name": "1110038P24Rik",
                    "type": "synonym"
                },
                {
                    "name": "4831420N21Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ogtl",
                    "type": "synonym"
                },
                {
                    "name": "Ogt",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CGY8-1",
            "evidence": [
                {
                    "id": "0080240",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080240"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15294-1",
            "uniprot_ac": "O15294",
            "uniprot_id": "OGT1_HUMAN",
            "refseq_ac": "NP_858058",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.255",
                    "type": "synonym"
                },
                {
                    "name": "O-GlcNAc transferase p110 subunit",
                    "type": "synonym"
                },
                {
                    "name": "O-GlcNAc transferase subunit p110",
                    "type": "synonym"
                },
                {
                    "name": "O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)",
                    "type": "synonym"
                },
                {
                    "name": "O-linked N-acetylglucosamine transferase 110 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "OGT",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "uridinediphospho-N-acetylglucosamine:polypeptide beta-N-acetylglucosaminyl transferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "OGT",
                    "type": "recommended"
                },
                {
                    "name": "HINCUT-1",
                    "type": "synonym"
                },
                {
                    "name": "HRNT1",
                    "type": "synonym"
                },
                {
                    "name": "MRX106",
                    "type": "synonym"
                },
                {
                    "name": "O-GLCNAC",
                    "type": "synonym"
                },
                {
                    "name": "OGT1",
                    "type": "synonym"
                },
                {
                    "name": "OGT",
                    "type": "synonym"
                },
                {
                    "name": "XLID106",
                    "type": "synonym"
                }
            ],
            "record_id": "O15294-1",
            "evidence": [
                {
                    "id": "0030907",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0030907"
                },
                {
                    "id": "300997",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300997"
                },
                {
                    "id": "0080240",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080240"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P56558-1",
            "uniprot_ac": "P56558",
            "uniprot_id": "OGT1_RAT",
            "refseq_ac": "NP_058803",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.255",
                    "type": "synonym"
                },
                {
                    "name": "O linked N-acetylglucosamine transferase",
                    "type": "synonym"
                },
                {
                    "name": "O-GlcNAc transferase subunit p110",
                    "type": "synonym"
                },
                {
                    "name": "O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)",
                    "type": "synonym"
                },
                {
                    "name": "O-linked N-acetylglucosamine transferase 110 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "OGT",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ogt",
                    "type": "recommended"
                },
                {
                    "name": "Ogt",
                    "type": "synonym"
                }
            ],
            "record_id": "P56558-1",
            "evidence": [
                {
                    "id": "0080240",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080240"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080240"
}