{
    "disease_id": "DOID:0110242",
    "recommended_name": {
        "id": "DOID:0110242",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110242",
        "name": "cataract 13 with adult i phenotype",
        "description": "A cataract that has_material_basis_in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24."
    },
    "synonyms": [
        {
            "id": "DOID:0110242",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110242",
            "name": "CTRCT13",
            "description": ""
        },
        {
            "id": "MONDO:0007289",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007289",
            "name": "cataract 13 with adult I phenotype",
            "description": "A cataract that has material basis in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24."
        },
        {
            "id": "MONDO:0007289",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007289",
            "name": "CTRCT13",
            "description": ""
        },
        {
            "id": "MONDO:0007289",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007289",
            "name": "cataract 13 with adult I phenotype",
            "description": ""
        },
        {
            "id": "MIM:116700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/116700",
            "name": "Cataract 13, with adult i phenotype",
            "description": "Cataract 13, with adult i phenotype"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110242"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110242",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110242",
            "categories": []
        },
        {
            "id": "MONDO:0007289",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007289",
            "categories": []
        },
        {
            "id": "MIM:116700",
            "database": "MIM",
            "url": "https://www.omim.org/entry/116700",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P97402-1",
            "uniprot_ac": "P97402",
            "uniprot_id": "GCNT2_MOUSE",
            "refseq_ac": "NP_032131",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.150",
                    "type": "synonym"
                },
                {
                    "name": "I-branching enzyme",
                    "type": "synonym"
                },
                {
                    "name": "IGNT",
                    "type": "synonym"
                },
                {
                    "name": "Large I antigen-forming beta-1,6-N-acetylglucosaminyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosaminyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform A",
                    "type": "synonym"
                },
                {
                    "name": "N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase",
                    "type": "synonym"
                },
                {
                    "name": "beta-1,6-N-acetylglucosaminyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme",
                    "type": "synonym"
                },
                {
                    "name": "glucosaminyltransferase, I-branching enzyme",
                    "type": "synonym"
                },
                {
                    "name": "large I antigen-forming beta-1,6-N-acetylglucosaminyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gcnt2",
                    "type": "recommended"
                },
                {
                    "name": "5330430K10Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gcnt2",
                    "type": "synonym"
                },
                {
                    "name": "IGnTA",
                    "type": "synonym"
                },
                {
                    "name": "IGnTB",
                    "type": "synonym"
                },
                {
                    "name": "IGnTC",
                    "type": "synonym"
                },
                {
                    "name": "IGnT",
                    "type": "synonym"
                }
            ],
            "record_id": "P97402-1",
            "evidence": [
                {
                    "id": "0110242",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110242"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N0V5-1",
            "uniprot_ac": "Q8N0V5",
            "uniprot_id": "GCNT2_HUMAN",
            "refseq_ac": "NP_001482",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.150",
                    "type": "synonym"
                },
                {
                    "name": "I beta-1,6-N-acetylglucosaminyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "I-branching enzyme",
                    "type": "synonym"
                },
                {
                    "name": "IGNT",
                    "type": "synonym"
                },
                {
                    "name": "Ii blood group",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosaminyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform B",
                    "type": "synonym"
                },
                {
                    "name": "N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase",
                    "type": "synonym"
                },
                {
                    "name": "beta-1,6-N-acetylglucosaminyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GCNT2",
                    "type": "recommended"
                },
                {
                    "name": "CCAT",
                    "type": "synonym"
                },
                {
                    "name": "CTRCT13",
                    "type": "synonym"
                },
                {
                    "name": "GCNT2C",
                    "type": "synonym"
                },
                {
                    "name": "GCNT2",
                    "type": "synonym"
                },
                {
                    "name": "GCNT5",
                    "type": "synonym"
                },
                {
                    "name": "IGNT",
                    "type": "synonym"
                },
                {
                    "name": "II",
                    "type": "synonym"
                },
                {
                    "name": "NACGT1",
                    "type": "synonym"
                },
                {
                    "name": "NAGCT1",
                    "type": "synonym"
                },
                {
                    "name": "ULG3",
                    "type": "synonym"
                },
                {
                    "name": "bA360O19.2",
                    "type": "synonym"
                },
                {
                    "name": "bA421M1.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N0V5-1",
            "evidence": [
                {
                    "id": "116700",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/116700"
                },
                {
                    "id": "0110242",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110242"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6T5E0-1",
            "uniprot_ac": "Q6T5E0",
            "uniprot_id": "Q6T5E0_RAT",
            "refseq_ac": "NP_001387780",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glucosaminyl (N-acetyl) transferase 2",
                    "type": "synonym"
                },
                {
                    "name": "I-branching beta-1,6-acetylglucosaminyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase-like",
                    "type": "synonym"
                },
                {
                    "name": "N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase",
                    "type": "synonym"
                },
                {
                    "name": "glucosaminyl (N-acetyl) transferase 2 (I blood group)",
                    "type": "synonym"
                },
                {
                    "name": "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme",
                    "type": "synonym"
                },
                {
                    "name": "glucosaminyl (N-acetyl) transferase 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gcnt2",
                    "type": "recommended"
                },
                {
                    "name": "Gcnt2",
                    "type": "synonym"
                },
                {
                    "name": "Gcnt6",
                    "type": "synonym"
                },
                {
                    "name": "Ignt",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6T5E0-1",
            "evidence": [
                {
                    "id": "0110242",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110242"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110242"
}