{
    "disease_id": "DOID:0110231",
    "recommended_name": {
        "id": "DOID:0110231",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110231",
        "name": "cataract 1 multiple types",
        "description": "A cataract that has_material_basis_in heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (GJA8) on chromosome 1q21."
    },
    "synonyms": [
        {
            "id": "DOID:0110231",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110231",
            "name": "CTRCT1",
            "description": ""
        },
        {
            "id": "DOID:0110231",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110231",
            "name": "Duffy linked cataract",
            "description": ""
        },
        {
            "id": "DOID:0110231",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110231",
            "name": "cataract 1, multiple types, with or without microcornea",
            "description": ""
        },
        {
            "id": "MONDO:0007285",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007285",
            "name": "cataract 1 multiple types",
            "description": "Any cataract (disease) in which the cause of the disease is a mutation in the GJA8 gene."
        },
        {
            "id": "MONDO:0007285",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007285",
            "name": "CTRCT1",
            "description": ""
        },
        {
            "id": "MONDO:0007285",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007285",
            "name": "GJA8 cataract (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0007285",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007285",
            "name": "cataract (disease) caused by mutation in GJA8",
            "description": ""
        },
        {
            "id": "MONDO:0007285",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007285",
            "name": "cataract 1, multiple types, with or without microcornea",
            "description": ""
        },
        {
            "id": "MONDO:0007285",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007285",
            "name": "cataract 1, multiple types",
            "description": ""
        },
        {
            "id": "MIM:116200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/116200",
            "name": "Cataract 1, multiple types",
            "description": "Cataract 1, multiple types"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110231"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110231",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110231",
            "categories": []
        },
        {
            "id": "MONDO:0007285",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007285",
            "categories": []
        },
        {
            "id": "MIM:116200",
            "database": "MIM",
            "url": "https://www.omim.org/entry/116200",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8N1Z0D3-1",
            "uniprot_ac": "A0A8N1Z0D3",
            "uniprot_id": "A0A8N1Z0D3_DANRE",
            "refseq_ac": "NP_001121822",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gap junction protein",
                    "type": "recommended"
                },
                {
                    "name": "44.1 protein-like",
                    "type": "synonym"
                },
                {
                    "name": "connexin 50.5",
                    "type": "synonym"
                },
                {
                    "name": "gap junction protein alpha 8 paralog a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gja8a",
                    "type": "recommended"
                },
                {
                    "name": "cx50.5",
                    "type": "synonym"
                },
                {
                    "name": "cx79.8",
                    "type": "synonym"
                },
                {
                    "name": "gja8a",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-18p12.7",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N1Z0D3-1",
            "evidence": [
                {
                    "id": "0110231",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110231"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28236-1",
            "uniprot_ac": "P28236",
            "uniprot_id": "CXA8_MOUSE",
            "refseq_ac": "NP_032149",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gap junction alpha-8 protein",
                    "type": "recommended"
                },
                {
                    "name": "Connexin-50",
                    "type": "synonym"
                },
                {
                    "name": "Cx50",
                    "type": "synonym"
                },
                {
                    "name": "Lens fiber protein MP70",
                    "type": "synonym"
                },
                {
                    "name": "alpha 8 connexin",
                    "type": "synonym"
                },
                {
                    "name": "connexin l",
                    "type": "synonym"
                },
                {
                    "name": "connexin-50",
                    "type": "synonym"
                },
                {
                    "name": "gap junction alpha-8 protein",
                    "type": "synonym"
                },
                {
                    "name": "gap junction membrane channel protein alpha 8",
                    "type": "synonym"
                },
                {
                    "name": "lens fiber protein MP70",
                    "type": "synonym"
                },
                {
                    "name": "lens opacity 10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gja8",
                    "type": "recommended"
                },
                {
                    "name": "Aey5",
                    "type": "synonym"
                },
                {
                    "name": "Cnx50",
                    "type": "synonym"
                },
                {
                    "name": "Cx50",
                    "type": "synonym"
                },
                {
                    "name": "Cxnl",
                    "type": "synonym"
                },
                {
                    "name": "Gja8",
                    "type": "synonym"
                },
                {
                    "name": "Lop10",
                    "type": "synonym"
                },
                {
                    "name": "dcm",
                    "type": "synonym"
                }
            ],
            "record_id": "P28236-1",
            "evidence": [
                {
                    "id": "0110231",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110231"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48165-1",
            "uniprot_ac": "P48165",
            "uniprot_id": "CXA8_HUMAN",
            "refseq_ac": "NP_005258",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gap junction alpha-8 protein",
                    "type": "recommended"
                },
                {
                    "name": "Connexin-50",
                    "type": "synonym"
                },
                {
                    "name": "Cx50",
                    "type": "synonym"
                },
                {
                    "name": "Lens fiber protein MP70",
                    "type": "synonym"
                },
                {
                    "name": "cell surface glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "connexin 50",
                    "type": "synonym"
                },
                {
                    "name": "gap junction alpha 8",
                    "type": "synonym"
                },
                {
                    "name": "gap junction alpha-8 protein",
                    "type": "synonym"
                },
                {
                    "name": "gap junction membrane channel protein alpha-8",
                    "type": "synonym"
                },
                {
                    "name": "gap junction protein alpha 8 50kDa",
                    "type": "synonym"
                },
                {
                    "name": "lens fiber protein MP70",
                    "type": "synonym"
                },
                {
                    "name": "lens intrinsic membrane protein MP70",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GJA8",
                    "type": "recommended"
                },
                {
                    "name": "CAE1",
                    "type": "synonym"
                },
                {
                    "name": "CAE",
                    "type": "synonym"
                },
                {
                    "name": "CTRCT1",
                    "type": "synonym"
                },
                {
                    "name": "CX50",
                    "type": "synonym"
                },
                {
                    "name": "CZP1",
                    "type": "synonym"
                },
                {
                    "name": "GJA8",
                    "type": "synonym"
                },
                {
                    "name": "MP70",
                    "type": "synonym"
                }
            ],
            "record_id": "P48165-1",
            "evidence": [
                {
                    "id": "116200",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/116200"
                },
                {
                    "id": "0110231",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110231"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K4Q9-1",
            "uniprot_ac": "Q8K4Q9",
            "uniprot_id": "CXA8_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gap junction alpha-8 protein",
                    "type": "recommended"
                },
                {
                    "name": "Connexin-50",
                    "type": "synonym"
                },
                {
                    "name": "Cx50",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gja8",
                    "type": "recommended"
                }
            ],
            "record_id": "Q8K4Q9-1",
            "evidence": [
                {
                    "id": "0110231",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110231"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110231"
}