{
    "disease_id": "DOID:0110253",
    "recommended_name": {
        "id": "DOID:0110253",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110253",
        "name": "cataract 14 multiple types",
        "description": "A cataract that has_material_basis_in heterozygous mutation in the gene encoding gap junction protein alpha-3 (GJA3) on chromosome 13q12."
    },
    "synonyms": [
        {
            "id": "DOID:0110253",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110253",
            "name": "CTRCT14",
            "description": ""
        },
        {
            "id": "MONDO:0011162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011162",
            "name": "cataract 14 multiple types",
            "description": "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the GJA3 gene."
        },
        {
            "id": "MONDO:0011162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011162",
            "name": "CTRCT14",
            "description": ""
        },
        {
            "id": "MONDO:0011162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011162",
            "name": "GJA3 early-onset non-syndromic cataract",
            "description": ""
        },
        {
            "id": "MONDO:0011162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011162",
            "name": "early-onset non-syndromic cataract caused by mutation in GJA3",
            "description": ""
        },
        {
            "id": "MONDO:0011162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011162",
            "name": "cataract 14, multiple types",
            "description": ""
        },
        {
            "id": "MIM:601885",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601885",
            "name": "Cataract 14, multiple types",
            "description": "Cataract 14, multiple types"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110253"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110253",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110253",
            "categories": []
        },
        {
            "id": "MONDO:0011162",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011162",
            "categories": []
        },
        {
            "id": "MIM:601885",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601885",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q64448-1",
            "uniprot_ac": "Q64448",
            "uniprot_id": "CXA3_MOUSE",
            "refseq_ac": "NP_001258552",
            "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-3 protein",
                    "type": "recommended"
                },
                {
                    "name": "Connexin-46",
                    "type": "synonym"
                },
                {
                    "name": "Cx46",
                    "type": "synonym"
                },
                {
                    "name": "alpha 3 connexin",
                    "type": "synonym"
                },
                {
                    "name": "connexin j1",
                    "type": "synonym"
                },
                {
                    "name": "connexin-46",
                    "type": "synonym"
                },
                {
                    "name": "gap junction alpha-3 protein",
                    "type": "synonym"
                },
                {
                    "name": "gap junction membrane channel protein alpha 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gja3",
                    "type": "recommended"
                },
                {
                    "name": "Cnx46",
                    "type": "synonym"
                },
                {
                    "name": "Cx43",
                    "type": "synonym"
                },
                {
                    "name": "Cx46",
                    "type": "synonym"
                },
                {
                    "name": "Cxnj1",
                    "type": "synonym"
                },
                {
                    "name": "Gja-3",
                    "type": "synonym"
                },
                {
                    "name": "Gja3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64448-1",
            "evidence": [
                {
                    "id": "0110253",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110253"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y6H8-1",
            "uniprot_ac": "Q9Y6H8",
            "uniprot_id": "CXA3_HUMAN",
            "refseq_ac": "NP_068773",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gap junction alpha-3 protein",
                    "type": "recommended"
                },
                {
                    "name": "Connexin-46",
                    "type": "synonym"
                },
                {
                    "name": "Cx46",
                    "type": "synonym"
                },
                {
                    "name": "connexin-46",
                    "type": "synonym"
                },
                {
                    "name": "gap junction alpha 3",
                    "type": "synonym"
                },
                {
                    "name": "gap junction alpha-3 protein",
                    "type": "synonym"
                },
                {
                    "name": "gap junction protein, alpha 3, 46kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GJA3",
                    "type": "recommended"
                },
                {
                    "name": "CTRCT14",
                    "type": "synonym"
                },
                {
                    "name": "CX46",
                    "type": "synonym"
                },
                {
                    "name": "CZP3",
                    "type": "synonym"
                },
                {
                    "name": "GJA3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y6H8-1",
            "evidence": [
                {
                    "id": "601885",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601885"
                },
                {
                    "id": "0110253",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110253"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29414-1",
            "uniprot_ac": "P29414",
            "uniprot_id": "CXA3_RAT",
            "refseq_ac": "NP_077352",
            "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-3 protein",
                    "type": "recommended"
                },
                {
                    "name": "Connexin-46",
                    "type": "synonym"
                },
                {
                    "name": "Cx46",
                    "type": "synonym"
                },
                {
                    "name": "connexin j1",
                    "type": "synonym"
                },
                {
                    "name": "connexin-46",
                    "type": "synonym"
                },
                {
                    "name": "cx46",
                    "type": "synonym"
                },
                {
                    "name": "gap junction alpha-3 protein",
                    "type": "synonym"
                },
                {
                    "name": "gap junction membrane channel protein alpha 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gja3",
                    "type": "recommended"
                },
                {
                    "name": "Cxn-46",
                    "type": "synonym"
                },
                {
                    "name": "Cxnj1",
                    "type": "synonym"
                },
                {
                    "name": "Gja3",
                    "type": "synonym"
                }
            ],
            "record_id": "P29414-1",
            "evidence": [
                {
                    "id": "0110253",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110253"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110253"
}