{
    "disease_id": "DOID:0110229",
    "recommended_name": {
        "id": "DOID:0110229",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110229",
        "name": "cataract 6 multiple types",
        "description": "A cataract that has_material_basis_in heterozygous mutation in the EPHA2 gene on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "DOID:0110229",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110229",
            "name": "CTRCT6",
            "description": ""
        },
        {
            "id": "MONDO:0007288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007288",
            "name": "cataract 6 multiple types",
            "description": "Any cataract (disease) in which the cause of the disease is a mutation in the EPHA2 gene."
        },
        {
            "id": "MONDO:0007288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007288",
            "name": "CTRCT6",
            "description": ""
        },
        {
            "id": "MONDO:0007288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007288",
            "name": "EPHA2 cataract (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0007288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007288",
            "name": "cataract (disease) caused by mutation in EPHA2",
            "description": ""
        },
        {
            "id": "MONDO:0007288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007288",
            "name": "CTPA",
            "description": ""
        },
        {
            "id": "MONDO:0007288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007288",
            "name": "CTPP",
            "description": ""
        },
        {
            "id": "MONDO:0007288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007288",
            "name": "Posterior polar cataract, 1",
            "description": ""
        },
        {
            "id": "MONDO:0007288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007288",
            "name": "cataract 6, multiple types",
            "description": ""
        },
        {
            "id": "MIM:116600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/116600",
            "name": "Cataract 6, multiple types",
            "description": "Cataract 6, multiple types"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110229"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110229",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110229",
            "categories": []
        },
        {
            "id": "MONDO:0007288",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007288",
            "categories": []
        },
        {
            "id": "MIM:116600",
            "database": "MIM",
            "url": "https://www.omim.org/entry/116600",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F533-1",
            "uniprot_ac": "E7F533",
            "uniprot_id": "E7F533_DANRE",
            "refseq_ac": "XP_005162266",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "receptor protein-tyrosine kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "ephrin type-A receptor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "epha2b",
                    "type": "recommended"
                },
                {
                    "name": "epha2b",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F533-1",
            "evidence": [
                {
                    "id": "0110229",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110229"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03145-1",
            "uniprot_ac": "Q03145",
            "uniprot_id": "EPHA2_MOUSE",
            "refseq_ac": "NP_034269",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ephrin type-A receptor 2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "Epithelial cell kinase",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine-protein kinase receptor ECK",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine-protein kinase receptor MPK-5",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine-protein kinase receptor SEK-2",
                    "type": "synonym"
                },
                {
                    "name": "ephrin type-A receptor 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "ephrin type-A receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "epithelial cell kinase",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase receptor ECK",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase receptor MPK-5",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase receptor SEK-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Epha2",
                    "type": "recommended"
                },
                {
                    "name": "Eck",
                    "type": "synonym"
                },
                {
                    "name": "Epha2",
                    "type": "synonym"
                },
                {
                    "name": "Myk2",
                    "type": "synonym"
                },
                {
                    "name": "Sek-2",
                    "type": "synonym"
                },
                {
                    "name": "Sek2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03145-1",
            "evidence": [
                {
                    "id": "0110229",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110229"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29317-1",
            "uniprot_ac": "P29317",
            "uniprot_id": "EPHA2_HUMAN",
            "refseq_ac": "NP_004422",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ephrin type-A receptor 2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "Epithelial cell kinase",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine-protein kinase receptor ECK",
                    "type": "synonym"
                },
                {
                    "name": "ephrin type-A receptor 2 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "ephrin type-A receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "epithelial cell receptor protein tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase receptor ECK",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EPHA2",
                    "type": "recommended"
                },
                {
                    "name": "ARCC2",
                    "type": "synonym"
                },
                {
                    "name": "CTPA",
                    "type": "synonym"
                },
                {
                    "name": "CTPP1",
                    "type": "synonym"
                },
                {
                    "name": "CTRCT6",
                    "type": "synonym"
                },
                {
                    "name": "ECK",
                    "type": "synonym"
                },
                {
                    "name": "EPHA2",
                    "type": "synonym"
                }
            ],
            "record_id": "P29317-1",
            "evidence": [
                {
                    "id": "116600",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/116600"
                },
                {
                    "id": "0110229",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110229"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZBN3-1",
            "uniprot_ac": "D3ZBN3",
            "uniprot_id": "D3ZBN3_RAT",
            "refseq_ac": "NP_001102447",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ephrin type-A receptor 2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "ephrin receptor EphA2",
                    "type": "synonym"
                },
                {
                    "name": "ephrin type-A receptor 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "ephrin type-A receptor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Epha2",
                    "type": "recommended"
                },
                {
                    "name": "Epha2",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZBN3-1",
            "evidence": [
                {
                    "id": "0110229",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110229"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V4E5-1",
            "uniprot_ac": "Q9V4E5",
            "uniprot_id": "Q9V4E5_DROME",
            "refseq_ac": "NP_524625",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "receptor protein-tyrosine kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "CG1511-PC",
                    "type": "synonym"
                },
                {
                    "name": "Eph kinase",
                    "type": "synonym"
                },
                {
                    "name": "Eph receptor tyrosine kinase, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Eph receptor",
                    "type": "synonym"
                },
                {
                    "name": "Eph-PC",
                    "type": "synonym"
                },
                {
                    "name": "Erythropoietin-producing human",
                    "type": "synonym"
                },
                {
                    "name": "drosophila eph",
                    "type": "synonym"
                },
                {
                    "name": "ephrin receptors",
                    "type": "synonym"
                },
                {
                    "name": "hepatocellular carcinoma cell line",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eph",
                    "type": "recommended"
                },
                {
                    "name": "CG1511",
                    "type": "synonym"
                },
                {
                    "name": "CT3831",
                    "type": "synonym"
                },
                {
                    "name": "DEK",
                    "type": "synonym"
                },
                {
                    "name": "Dek7",
                    "type": "synonym"
                },
                {
                    "name": "Dek",
                    "type": "synonym"
                },
                {
                    "name": "Deph",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1511",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1511",
                    "type": "synonym"
                },
                {
                    "name": "EPH",
                    "type": "synonym"
                },
                {
                    "name": "Ek7",
                    "type": "synonym"
                },
                {
                    "name": "Eph",
                    "type": "synonym"
                },
                {
                    "name": "RPTK Dek7",
                    "type": "synonym"
                },
                {
                    "name": "dek",
                    "type": "synonym"
                },
                {
                    "name": "eph",
                    "type": "synonym"
                },
                {
                    "name": "lincRNA.923",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V4E5-1",
            "evidence": [
                {
                    "id": "0110229",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110229"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110229"
}