{
    "disease_id": "DOID:0080244",
    "recommended_name": {
        "id": "DOID:0080244",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080244",
        "name": "Galloway-Mowat syndrome 2",
        "description": "A Galloway-Mowat syndrome that has_material_basis_in hemizygous mutation in the LAGE3 gene on chromosome Xq28."
    },
    "synonyms": [
        {
            "id": "MONDO:0033006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033006",
            "name": "Galloway-Mowat syndrome 2, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0033006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033006",
            "name": "Galloway-Mowat syndrome 2, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0033006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033006",
            "name": "Galloway-Mowat syndrome 2, X-linked, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0033006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033006",
            "name": "GAMOS2",
            "description": ""
        },
        {
            "id": "MIM:301006",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301006",
            "name": "Galloway-Mowat syndrome 2, X-linked",
            "description": "Galloway-Mowat syndrome 2, X-linked"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080244"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080244",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080244",
            "categories": []
        },
        {
            "id": "MONDO:0033006",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033006",
            "categories": []
        },
        {
            "id": "MIM:301006",
            "database": "MIM",
            "url": "https://www.omim.org/entry/301006",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9CR70-1",
            "uniprot_ac": "Q9CR70",
            "uniprot_id": "LAGE3_MOUSE",
            "refseq_ac": "NP_079686",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "EKC/KEOPS complex subunit Lage3",
                    "type": "recommended"
                },
                {
                    "name": "EKC/KEOPS complex subunit Lage3",
                    "type": "synonym"
                },
                {
                    "name": "ITBA2 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "L antigen family member 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lage3",
                    "type": "recommended"
                },
                {
                    "name": "1110049G11Rik",
                    "type": "synonym"
                },
                {
                    "name": "Eso3",
                    "type": "synonym"
                },
                {
                    "name": "Itba2",
                    "type": "synonym"
                },
                {
                    "name": "Lage3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CR70-1",
            "evidence": [
                {
                    "id": "0080244",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080244"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14657-1",
            "uniprot_ac": "Q14657",
            "uniprot_id": "LAGE3_HUMAN",
            "refseq_ac": "NP_006005",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "EKC/KEOPS complex subunit LAGE3",
                    "type": "recommended"
                },
                {
                    "name": "EKC/KEOPS complex subunit LAGE3",
                    "type": "synonym"
                },
                {
                    "name": "L antigen family member 3",
                    "type": "synonym"
                },
                {
                    "name": "Protein ESO-3",
                    "type": "synonym"
                },
                {
                    "name": "Protein ITBA2",
                    "type": "synonym"
                },
                {
                    "name": "protein ESO-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LAGE3",
                    "type": "recommended"
                },
                {
                    "name": "CVG5",
                    "type": "synonym"
                },
                {
                    "name": "DXS9879E",
                    "type": "synonym"
                },
                {
                    "name": "DXS9951E",
                    "type": "synonym"
                },
                {
                    "name": "ESO3",
                    "type": "synonym"
                },
                {
                    "name": "GAMOS2",
                    "type": "synonym"
                },
                {
                    "name": "ITBA2",
                    "type": "synonym"
                },
                {
                    "name": "LAGE3",
                    "type": "synonym"
                },
                {
                    "name": "Pcc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14657-1",
            "evidence": [
                {
                    "id": "301006",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/301006"
                },
                {
                    "id": "0080244",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080244"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3E833-1",
            "uniprot_ac": "Q3E833",
            "uniprot_id": "PCC1_YEAST",
            "refseq_ac": "NP_878113",
            "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": "EKC/KEOPS complex subunit PCC1",
                    "type": "recommended"
                },
                {
                    "name": "Polarized growth chromatin-associated controller 1",
                    "type": "synonym"
                },
                {
                    "name": "chromatin DNA-binding EKC/KEOPS complex subunit PCC1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PCC1",
                    "type": "recommended"
                },
                {
                    "name": "PCC1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3E833-1",
            "evidence": [
                {
                    "id": "0080244",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080244"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0R3X9-1",
            "uniprot_ac": "M0R3X9",
            "uniprot_id": "M0R3X9_RAT",
            "refseq_ac": "XP_006229678",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "L antigen family member 3",
                    "type": "recommended"
                },
                {
                    "name": "EKC/KEOPS complex subunit LAGE3-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ctag2l2",
                    "type": "recommended"
                },
                {
                    "name": "Ctag2l2",
                    "type": "synonym"
                },
                {
                    "name": "LOC102552182",
                    "type": "synonym"
                },
                {
                    "name": "LOC134484035",
                    "type": "synonym"
                }
            ],
            "record_id": "M0R3X9-1",
            "evidence": [
                {
                    "id": "0080244",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080244"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K6Q0-1",
            "uniprot_ac": "A0A0G2K6Q0",
            "uniprot_id": "A0A0G2K6Q0_RAT",
            "refseq_ac": "XP_001074179",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "L antigen family member 3",
                    "type": "recommended"
                },
                {
                    "name": "EKC/KEOPS complex subunit LAGE3-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ctag2l1",
                    "type": "recommended"
                },
                {
                    "name": "Ctag2l1",
                    "type": "synonym"
                },
                {
                    "name": "LOC134484033",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K6Q0-1",
            "evidence": [
                {
                    "id": "0080244",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080244"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZZR7-1",
            "uniprot_ac": "D3ZZR7",
            "uniprot_id": "D3ZZR7_RAT",
            "refseq_ac": "NP_001102792",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "L antigen family member 3",
                    "type": "recommended"
                },
                {
                    "name": "cancer/testis antigen 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ctag2",
                    "type": "recommended"
                },
                {
                    "name": "Ctag2",
                    "type": "synonym"
                },
                {
                    "name": "RGD1561702",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZZR7-1",
            "evidence": [
                {
                    "id": "0080244",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080244"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E1JIY8-1",
            "uniprot_ac": "E1JIY8",
            "uniprot_id": "E1JIY8_DROME",
            "refseq_ac": "NP_001163743",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "L antigen family member 3",
                    "type": "recommended"
                },
                {
                    "name": "CG42498-PA",
                    "type": "synonym"
                },
                {
                    "name": "Tcs6-PA",
                    "type": "synonym"
                },
                {
                    "name": "Threonyl-carbamoyl synthesis 6",
                    "type": "synonym"
                },
                {
                    "name": "tRNA adenosine(37) threonylcarbamoyltransferase complex, dimerization subunit type 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tcs6",
                    "type": "recommended"
                },
                {
                    "name": "CG42498",
                    "type": "synonym"
                },
                {
                    "name": "Dm pcc1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42498",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42498",
                    "type": "synonym"
                },
                {
                    "name": "Dromel_CG14550_FBtr0084974_uORF",
                    "type": "synonym"
                },
                {
                    "name": "Tcs6",
                    "type": "synonym"
                },
                {
                    "name": "tcs6",
                    "type": "synonym"
                }
            ],
            "record_id": "E1JIY8-1",
            "evidence": [
                {
                    "id": "0080244",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080244"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080244"
}