{
    "disease_id": "DOID:0111863",
    "recommended_name": {
        "id": "DOID:0111863",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111863",
        "name": "X-linked congenital bilateral absence of vas deferens",
        "description": "A congenital bilateral absence of vas deferens that has_material_basis_in mutation in the ADGRG2 gene on chromosome Xp22.13."
    },
    "synonyms": [
        {
            "id": "DOID:0111863",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111863",
            "name": "CBAVDX",
            "description": ""
        },
        {
            "id": "MONDO:0010511",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010511",
            "name": "vas deferens, congenital bilateral aplasia of, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010511",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010511",
            "name": "CBAVDX",
            "description": ""
        },
        {
            "id": "MONDO:0010511",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010511",
            "name": "congenital bilateral absence of vas deferens, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010511",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010511",
            "name": "vas deferens, congenital bilateral aplasia of, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010511",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010511",
            "name": "vas deferens, congenital bilateral aplasia of, X-linked; CBAVDX",
            "description": ""
        },
        {
            "id": "MIM:300985",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300985",
            "name": "Congenital bilateral aplasia of the vas deferens, X-linked",
            "description": "Congenital bilateral aplasia of the vas deferens, X-linked"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111863"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111863",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111863",
            "categories": []
        },
        {
            "id": "MONDO:0010511",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010511",
            "categories": []
        },
        {
            "id": "MIM:300985",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300985",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8CJ12-1",
            "uniprot_ac": "Q8CJ12",
            "uniprot_id": "AGRG2_MOUSE",
            "refseq_ac": "NP_001073317",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adhesion G protein-coupled receptor G2",
                    "type": "recommended"
                },
                {
                    "name": "G protein coupled receptor He6",
                    "type": "synonym"
                },
                {
                    "name": "G protein-coupled receptor 64",
                    "type": "synonym"
                },
                {
                    "name": "G-protein coupled receptor 64",
                    "type": "synonym"
                },
                {
                    "name": "LNB-TM7 heptahelical receptor Me6",
                    "type": "synonym"
                },
                {
                    "name": "Me6",
                    "type": "synonym"
                },
                {
                    "name": "Mouse epididymis-specific protein 6",
                    "type": "synonym"
                },
                {
                    "name": "adhesion G-protein coupled receptor G2 isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "epididymis-specific protein 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Adgrg2",
                    "type": "recommended"
                },
                {
                    "name": "Adgrg2",
                    "type": "synonym"
                },
                {
                    "name": "B830041D06Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gpr64",
                    "type": "synonym"
                },
                {
                    "name": "Me6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CJ12-1",
            "evidence": [
                {
                    "id": "0111863",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111863"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IZP9-1",
            "uniprot_ac": "Q8IZP9",
            "uniprot_id": "AGRG2_HUMAN",
            "refseq_ac": "NP_001073327",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adhesion G protein-coupled receptor G2",
                    "type": "recommended"
                },
                {
                    "name": "G protein-coupled receptor 64",
                    "type": "synonym"
                },
                {
                    "name": "G protein-coupled receptor, epididymis-specific (seven transmembrane family)",
                    "type": "synonym"
                },
                {
                    "name": "He6",
                    "type": "synonym"
                },
                {
                    "name": "Human epididymis-specific protein 6",
                    "type": "synonym"
                },
                {
                    "name": "adhesion G-protein coupled receptor G2 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "epididymal protein 6",
                    "type": "synonym"
                },
                {
                    "name": "human epididymis-specific protein 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ADGRG2",
                    "type": "recommended"
                },
                {
                    "name": "ADGRG2",
                    "type": "synonym"
                },
                {
                    "name": "CBAVDX",
                    "type": "synonym"
                },
                {
                    "name": "EDDM6",
                    "type": "synonym"
                },
                {
                    "name": "GPR64",
                    "type": "synonym"
                },
                {
                    "name": "HE6",
                    "type": "synonym"
                },
                {
                    "name": "TM7LN2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IZP9-1",
            "evidence": [
                {
                    "id": "300985",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300985"
                },
                {
                    "id": "0111863",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111863"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CJ11-1",
            "uniprot_ac": "Q8CJ11",
            "uniprot_id": "AGRG2_RAT",
            "refseq_ac": "NP_001257800",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adhesion G protein-coupled receptor G2",
                    "type": "recommended"
                },
                {
                    "name": "G protein-coupled receptor 64",
                    "type": "synonym"
                },
                {
                    "name": "G-protein coupled receptor 64",
                    "type": "synonym"
                },
                {
                    "name": "Rat epididymis-specific protein 6",
                    "type": "synonym"
                },
                {
                    "name": "Re6",
                    "type": "synonym"
                },
                {
                    "name": "adhesion G-protein coupled receptor G2 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "epididymis-specific protein 6",
                    "type": "synonym"
                },
                {
                    "name": "re6 receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Adgrg2",
                    "type": "recommended"
                },
                {
                    "name": "Adgrg2",
                    "type": "synonym"
                },
                {
                    "name": "Gpr64",
                    "type": "synonym"
                },
                {
                    "name": "He6",
                    "type": "synonym"
                },
                {
                    "name": "Re6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CJ11-1",
            "evidence": [
                {
                    "id": "0111863",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111863"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VA10-1",
            "uniprot_ac": "Q9VA10",
            "uniprot_id": "Q9VA10_DROME",
            "refseq_ac": "NP_001247379",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG15556-PB",
                    "type": "synonym"
                },
                {
                    "name": "Ketchup, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Ketchup, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Ketchup, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Ktch-PB",
                    "type": "synonym"
                },
                {
                    "name": "ketchup, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ktch",
                    "type": "recommended"
                },
                {
                    "name": "AT07595p",
                    "type": "synonym"
                },
                {
                    "name": "CG15556",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG15556",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG15556",
                    "type": "synonym"
                },
                {
                    "name": "Ktch",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0170980.178",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0170980.179",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VA10-1",
            "evidence": [
                {
                    "id": "0111863",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111863"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111863"
}
