{
    "disease_id": "DOID:0111864",
    "recommended_name": {
        "id": "DOID:0111864",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111864",
        "name": "autosomal recessive congenital bilateral absence of vas deferens",
        "description": "A congenital bilateral absence of vas deferens that has_material_basis_in homozygous or compound heterozygous mutation in the CFTR gene on chromosome 7q31.2."
    },
    "synonyms": [
        {
            "id": "MONDO:0010178",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010178",
            "name": "congenital bilateral aplasia of vas deferens from CFTR mutation",
            "description": "An autosomal recessive disorder that is associated with mutation(s) in the CFTR gene, encoding cystic fibrosis transmembrane conductance regulator. Mutation(s) in the same gene are associated with cystic fibrosis."
        },
        {
            "id": "MONDO:0010178",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010178",
            "name": "congenital bilateral absence of vas deferens",
            "description": ""
        },
        {
            "id": "MONDO:0010178",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010178",
            "name": "congenital bilateral aplasia of the vas deferens",
            "description": ""
        },
        {
            "id": "MONDO:0010178",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010178",
            "name": "vas deferens, congenital bilateral aplasia of",
            "description": ""
        },
        {
            "id": "MONDO:0010178",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010178",
            "name": "CAVD",
            "description": ""
        },
        {
            "id": "MONDO:0010178",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010178",
            "name": "CBAVD",
            "description": ""
        },
        {
            "id": "MIM:277180",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/277180",
            "name": "Congenital bilateral absence of the vas deferens",
            "description": "Congenital bilateral absence of the vas deferens"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111864"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111864",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111864",
            "categories": []
        },
        {
            "id": "MONDO:0010178",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010178",
            "categories": []
        },
        {
            "id": "MIM:277180",
            "database": "MIM",
            "url": "https://www.omim.org/entry/277180",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q1LX78-1",
            "uniprot_ac": "Q1LX78",
            "uniprot_id": "CFTR_DANRE",
            "refseq_ac": "NP_001038348",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cystic fibrosis transmembrane conductance regulator",
                    "type": "recommended"
                },
                {
                    "name": "5.6.1.6",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family C member 7",
                    "type": "synonym"
                },
                {
                    "name": "Channel conductance-controlling ATPase",
                    "type": "synonym"
                },
                {
                    "name": "abcc7",
                    "type": "synonym"
                },
                {
                    "name": "cAMP-dependent chloride channel",
                    "type": "synonym"
                },
                {
                    "name": "channel conductance-controlling ATPase",
                    "type": "synonym"
                },
                {
                    "name": "cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)",
                    "type": "synonym"
                },
                {
                    "name": "cystic fibrosis transmembrane conductance regulator",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cftr",
                    "type": "recommended"
                },
                {
                    "name": "cftr",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-270i2.2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1LX78-1",
            "evidence": [
                {
                    "id": "0111864",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111864"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P26361-1",
            "uniprot_ac": "P26361",
            "uniprot_id": "CFTR_MOUSE",
            "refseq_ac": "NP_066388",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cystic fibrosis transmembrane conductance regulator",
                    "type": "recommended"
                },
                {
                    "name": "5.6.1.6",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family C member 7",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette transporter sub-family C member 7",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, subfamily c, member 7",
                    "type": "synonym"
                },
                {
                    "name": "CFTR",
                    "type": "synonym"
                },
                {
                    "name": "Channel conductance-controlling ATPase",
                    "type": "synonym"
                },
                {
                    "name": "cAMP-dependent chloride channel",
                    "type": "synonym"
                },
                {
                    "name": "channel conductance-controlling ATPase",
                    "type": "synonym"
                },
                {
                    "name": "cystic fibrosis transmembrane conductance regulator homolog",
                    "type": "synonym"
                },
                {
                    "name": "cystic fibrosis transmembrane conductance regulator",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cftr",
                    "type": "recommended"
                },
                {
                    "name": "Abcc7",
                    "type": "synonym"
                },
                {
                    "name": "Cftr",
                    "type": "synonym"
                }
            ],
            "record_id": "P26361-1",
            "evidence": [
                {
                    "id": "0111864",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111864"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13569-1",
            "uniprot_ac": "P13569",
            "uniprot_id": "CFTR_HUMAN",
            "refseq_ac": "NP_000483",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cystic fibrosis transmembrane conductance regulator",
                    "type": "recommended"
                },
                {
                    "name": "5.6.1.6",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family C member 7",
                    "type": "synonym"
                },
                {
                    "name": "CFTR",
                    "type": "synonym"
                },
                {
                    "name": "Channel conductance-controlling ATPase",
                    "type": "synonym"
                },
                {
                    "name": "cAMP-dependent chloride channel",
                    "type": "synonym"
                },
                {
                    "name": "channel conductance-controlling ATPase",
                    "type": "synonym"
                },
                {
                    "name": "cystic fibrosis transmembrane conductance regulating",
                    "type": "synonym"
                },
                {
                    "name": "cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)",
                    "type": "synonym"
                },
                {
                    "name": "cystic fibrosis transmembrane conductance regulator",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CFTR",
                    "type": "recommended"
                },
                {
                    "name": "ABC35",
                    "type": "synonym"
                },
                {
                    "name": "ABCC7",
                    "type": "synonym"
                },
                {
                    "name": "CFTR/MRP",
                    "type": "synonym"
                },
                {
                    "name": "CFTR",
                    "type": "synonym"
                },
                {
                    "name": "CF",
                    "type": "synonym"
                },
                {
                    "name": "MRP7",
                    "type": "synonym"
                },
                {
                    "name": "TNR-CFTR",
                    "type": "synonym"
                },
                {
                    "name": "dJ760C5.1",
                    "type": "synonym"
                }
            ],
            "record_id": "P13569-1",
            "evidence": [
                {
                    "id": "277180",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/277180"
                },
                {
                    "id": "0111864",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111864"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P34158-1",
            "uniprot_ac": "P34158",
            "uniprot_id": "CFTR_RAT",
            "refseq_ac": "NP_113694",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cystic fibrosis transmembrane conductance regulator",
                    "type": "recommended"
                },
                {
                    "name": "5.6.1.6",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family C member 7",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette transporter sub-family C member 7",
                    "type": "synonym"
                },
                {
                    "name": "CFTR",
                    "type": "synonym"
                },
                {
                    "name": "Channel conductance-controlling ATPase",
                    "type": "synonym"
                },
                {
                    "name": "cAMP-dependent chloride channel",
                    "type": "synonym"
                },
                {
                    "name": "channel conductance-controlling ATPase",
                    "type": "synonym"
                },
                {
                    "name": "cystic fibrosis transmembrane conductance regulator homolog",
                    "type": "synonym"
                },
                {
                    "name": "cystic fibrosis transmembrane conductance regulator",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cftr",
                    "type": "recommended"
                },
                {
                    "name": "Abcc7",
                    "type": "synonym"
                },
                {
                    "name": "Cftr",
                    "type": "synonym"
                },
                {
                    "name": "RGD1561193",
                    "type": "synonym"
                }
            ],
            "record_id": "P34158-1",
            "evidence": [
                {
                    "id": "0111864",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111864"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N123-1",
            "uniprot_ac": "Q8N123",
            "uniprot_id": "CPXCR_HUMAN",
            "refseq_ac": "NP_001171700",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "CPX chromosomal region candidate gene 1 protein",
                    "type": "recommended"
                },
                {
                    "name": "CPX chromosomal region candidate gene 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "CT77",
                    "type": "synonym"
                },
                {
                    "name": "Cancer/testis antigen 77",
                    "type": "synonym"
                },
                {
                    "name": "cancer/testis antigen 77",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CPXCR1",
                    "type": "recommended"
                },
                {
                    "name": "CPXCR1",
                    "type": "synonym"
                },
                {
                    "name": "CT77",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N123-1",
            "evidence": [
                {
                    "id": "0111864",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111864"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111864"
}