{
    "disease_id": "DOID:0111228",
    "recommended_name": {
        "id": "DOID:0111228",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111228",
        "name": "Sveinsson chorioretinal atrophy",
        "description": "An eye disease characterized by presence in the fundus of progressive bilateral retinal and choroidal atrophy leading to central vision loss that has_material_basis_in heterozygous mutation in TEAD1 on 11p15.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111228",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111228",
            "name": "HPCD",
            "description": ""
        },
        {
            "id": "DOID:0111228",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111228",
            "name": "SCRA",
            "description": ""
        },
        {
            "id": "DOID:0111228",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111228",
            "name": "atrophia areata",
            "description": ""
        },
        {
            "id": "DOID:0111228",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111228",
            "name": "helicoid peripapillary chorioretinal degeneration",
            "description": ""
        },
        {
            "id": "DOID:0111228",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111228",
            "name": "peripapillary chorioretinal degeneration, Icelandic type",
            "description": ""
        },
        {
            "id": "MONDO:0007176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007176",
            "name": "helicoid peripapillary chorioretinal degeneration",
            "description": "Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease."
        },
        {
            "id": "MONDO:0007176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007176",
            "name": "SCRA",
            "description": ""
        },
        {
            "id": "MONDO:0007176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007176",
            "name": "Sveinsson chorioretinal atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0007176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007176",
            "name": "atrophia areata",
            "description": ""
        },
        {
            "id": "MONDO:0007176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007176",
            "name": "SVEINSSON chorioretinal atrophy",
            "description": ""
        },
        {
            "id": "MIM:108985",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/108985",
            "name": "Sveinsson chorioretinal atrophy",
            "description": "Sveinsson chorioretinal atrophy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111228"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111228",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111228",
            "categories": []
        },
        {
            "id": "MONDO:0007176",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007176",
            "categories": []
        },
        {
            "id": "MIM:108985",
            "database": "MIM",
            "url": "https://www.omim.org/entry/108985",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BLW2-1",
            "uniprot_ac": "A0A8M2BLW2",
            "uniprot_id": "A0A8M2BLW2_DANRE",
            "refseq_ac": "NP_998012",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "TEA domain family member 1",
                    "type": "synonym"
                },
                {
                    "name": "Transcriptional enhancer factor TEF-1a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional enhancer factor TEF-1a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tead1a",
                    "type": "recommended"
                },
                {
                    "name": "tead1a",
                    "type": "synonym"
                },
                {
                    "name": "tead1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63696",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BLW2-1",
            "evidence": [
                {
                    "id": "0111228",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111228"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P30051-1",
            "uniprot_ac": "P30051",
            "uniprot_id": "TEAD1_MOUSE",
            "refseq_ac": "NP_001160057",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcriptional enhancer factor TEF-1",
                    "type": "recommended"
                },
                {
                    "name": "NTEF-1",
                    "type": "synonym"
                },
                {
                    "name": "Protein GT-IIC",
                    "type": "synonym"
                },
                {
                    "name": "TCF-13",
                    "type": "synonym"
                },
                {
                    "name": "TEA domain family member 1",
                    "type": "synonym"
                },
                {
                    "name": "TEAD-1",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor 13",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor 13",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional enhancer factor TEF-1 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional enhancer factor TEF-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tead1",
                    "type": "recommended"
                },
                {
                    "name": "2610024B07Rik",
                    "type": "synonym"
                },
                {
                    "name": "B230114H05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gtrgeo5",
                    "type": "synonym"
                },
                {
                    "name": "TEAD-1",
                    "type": "synonym"
                },
                {
                    "name": "TEF-1",
                    "type": "synonym"
                },
                {
                    "name": "Tcf13",
                    "type": "synonym"
                },
                {
                    "name": "Tead1",
                    "type": "synonym"
                },
                {
                    "name": "Tef-1",
                    "type": "synonym"
                },
                {
                    "name": "Tef1",
                    "type": "synonym"
                },
                {
                    "name": "mTEF-1",
                    "type": "synonym"
                }
            ],
            "record_id": "P30051-1",
            "evidence": [
                {
                    "id": "0111228",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111228"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28347-1",
            "uniprot_ac": "P28347",
            "uniprot_id": "TEAD1_HUMAN",
            "refseq_ac": "NP_068780",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcriptional enhancer factor TEF-1",
                    "type": "recommended"
                },
                {
                    "name": "NTEF-1",
                    "type": "synonym"
                },
                {
                    "name": "Protein GT-IIC",
                    "type": "synonym"
                },
                {
                    "name": "TCF-13",
                    "type": "synonym"
                },
                {
                    "name": "TEA domain family member 1 (SV40 transcriptional enhancer factor)",
                    "type": "synonym"
                },
                {
                    "name": "TEA domain family member 1",
                    "type": "synonym"
                },
                {
                    "name": "TEAD-1",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor 13",
                    "type": "synonym"
                },
                {
                    "name": "protein GT-IIC",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor 13",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional enhancer factor 1",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional enhancer factor TEF-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TEAD1",
                    "type": "recommended"
                },
                {
                    "name": "AA",
                    "type": "synonym"
                },
                {
                    "name": "NTEF-1",
                    "type": "synonym"
                },
                {
                    "name": "REF1",
                    "type": "synonym"
                },
                {
                    "name": "TCF-13",
                    "type": "synonym"
                },
                {
                    "name": "TCF13",
                    "type": "synonym"
                },
                {
                    "name": "TEAD-1",
                    "type": "synonym"
                },
                {
                    "name": "TEAD1",
                    "type": "synonym"
                },
                {
                    "name": "TEF-1",
                    "type": "synonym"
                },
                {
                    "name": "TEF1",
                    "type": "synonym"
                }
            ],
            "record_id": "P28347-1",
            "evidence": [
                {
                    "id": "108985",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/108985"
                },
                {
                    "id": "0111228",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111228"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18412-1",
            "uniprot_ac": "P18412",
            "uniprot_id": "TEC1_YEAST",
            "refseq_ac": "NP_009639",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ty transcription activator TEC1",
                    "type": "recommended"
                },
                {
                    "name": "Tec1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TEC1",
                    "type": "recommended"
                },
                {
                    "name": "ROC1",
                    "type": "synonym"
                },
                {
                    "name": "TEC1",
                    "type": "synonym"
                },
                {
                    "name": "YBR0750",
                    "type": "synonym"
                }
            ],
            "record_id": "P18412-1",
            "evidence": [
                {
                    "id": "0111228",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111228"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K2N3-1",
            "uniprot_ac": "A0A0G2K2N3",
            "uniprot_id": "A0A0G2K2N3_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": "TEA domain transcription factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tead1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A0G2K2N3-1",
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                {
                    "id": "0111228",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111228"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P30052-1",
            "uniprot_ac": "P30052",
            "uniprot_id": "SCAL_DROME",
            "refseq_ac": "NP_001096990",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein scalloped",
                    "type": "recommended"
                },
                {
                    "name": "CG8544-PE",
                    "type": "synonym"
                },
                {
                    "name": "scalloped, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "scalloped",
                    "type": "synonym"
                },
                {
                    "name": "sd-PE",
                    "type": "synonym"
                },
                {
                    "name": "spatula",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sd",
                    "type": "recommended"
                },
                {
                    "name": "CG8544",
                    "type": "synonym"
                },
                {
                    "name": "DROEXO2",
                    "type": "synonym"
                },
                {
                    "name": "DROEXO",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8544",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8544",
                    "type": "synonym"
                },
                {
                    "name": "EP(X)1088",
                    "type": "synonym"
                },
                {
                    "name": "EP1088",
                    "type": "synonym"
                },
                {
                    "name": "SD",
                    "type": "synonym"
                },
                {
                    "name": "Sd",
                    "type": "synonym"
                },
                {
                    "name": "TEAD",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Liang-2.14",
                    "type": "synonym"
                },
                {
                    "name": "clone 2.14",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0239",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0262",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0309",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0315",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0483",
                    "type": "synonym"
                },
                {
                    "name": "l(1)HF394",
                    "type": "synonym"
                },
                {
                    "name": "l(1)III",
                    "type": "synonym"
                },
                {
                    "name": "sd",
                    "type": "synonym"
                },
                {
                    "name": "sp",
                    "type": "synonym"
                }
            ],
            "record_id": "P30052-1",
            "evidence": [
                {
                    "id": "0111228",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111228"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111228"
}