{
    "disease_id": "DOID:0110384",
    "recommended_name": {
        "id": "DOID:0110384",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110384",
        "name": "retinitis pigmentosa 25",
        "description": "A retinitis pigmentosa that has_material_basis_in mutation in the EYS gene on chromosome 6q12."
    },
    "synonyms": [
        {
            "id": "DOID:0110384",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110384",
            "name": "RP25",
            "description": ""
        },
        {
            "id": "MONDO:0011272",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011272",
            "name": "retinitis pigmentosa 25",
            "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the EYS gene."
        },
        {
            "id": "MONDO:0011272",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011272",
            "name": "EYS retinitis pigmentosa",
            "description": ""
        },
        {
            "id": "MONDO:0011272",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011272",
            "name": "RP25",
            "description": ""
        },
        {
            "id": "MONDO:0011272",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011272",
            "name": "retinitis pigmentosa 25",
            "description": ""
        },
        {
            "id": "MONDO:0011272",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011272",
            "name": "retinitis pigmentosa caused by mutation in EYS",
            "description": ""
        },
        {
            "id": "MONDO:0011272",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011272",
            "name": "retinitis pigmentosa type 25",
            "description": ""
        },
        {
            "id": "MONDO:0011272",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011272",
            "name": "RP 25",
            "description": ""
        },
        {
            "id": "MIM:602772",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/602772",
            "name": "Retinitis pigmentosa 25",
            "description": "Retinitis pigmentosa 25"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110384"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110384",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110384",
            "categories": []
        },
        {
            "id": "MONDO:0011272",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011272",
            "categories": []
        },
        {
            "id": "MIM:602772",
            "database": "MIM",
            "url": "https://www.omim.org/entry/602772",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5T1H1-3",
            "uniprot_ac": "Q5T1H1",
            "uniprot_id": "EYS_HUMAN",
            "refseq_ac": "NP_001136272",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein eyes shut homolog",
                    "type": "recommended"
                },
                {
                    "name": "EGF-like protein 10",
                    "type": "synonym"
                },
                {
                    "name": "EGF-like protein 11",
                    "type": "synonym"
                },
                {
                    "name": "EGF-like-domain, multiple 10",
                    "type": "synonym"
                },
                {
                    "name": "EGF-like-domain, multiple 11",
                    "type": "synonym"
                },
                {
                    "name": "Epidermal growth factor-like protein 10",
                    "type": "synonym"
                },
                {
                    "name": "Epidermal growth factor-like protein 11",
                    "type": "synonym"
                },
                {
                    "name": "Protein spacemaker homolog",
                    "type": "synonym"
                },
                {
                    "name": "epidermal growth factor-like protein 10",
                    "type": "synonym"
                },
                {
                    "name": "epidermal growth factor-like protein 11",
                    "type": "synonym"
                },
                {
                    "name": "eyes shut homolog",
                    "type": "synonym"
                },
                {
                    "name": "protein eyes shut homolog isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "protein spacemaker homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EYS",
                    "type": "recommended"
                },
                {
                    "name": "C6orf178",
                    "type": "synonym"
                },
                {
                    "name": "C6orf179",
                    "type": "synonym"
                },
                {
                    "name": "C6orf180",
                    "type": "synonym"
                },
                {
                    "name": "EGFL10",
                    "type": "synonym"
                },
                {
                    "name": "EGFL11",
                    "type": "synonym"
                },
                {
                    "name": "EYS",
                    "type": "synonym"
                },
                {
                    "name": "PRO34591",
                    "type": "synonym"
                },
                {
                    "name": "RP25",
                    "type": "synonym"
                },
                {
                    "name": "SPAM",
                    "type": "synonym"
                },
                {
                    "name": "bA166P24.2",
                    "type": "synonym"
                },
                {
                    "name": "bA307F22.3",
                    "type": "synonym"
                },
                {
                    "name": "bA74E24.1",
                    "type": "synonym"
                },
                {
                    "name": "dJ1018A4.2",
                    "type": "synonym"
                },
                {
                    "name": "dJ22I17.2",
                    "type": "synonym"
                },
                {
                    "name": "dJ303F19.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5T1H1-3",
            "evidence": [
                {
                    "id": "602772",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/602772"
                },
                {
                    "id": "0110384",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110384"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A1F4-1",
            "uniprot_ac": "A0A1F4",
            "uniprot_id": "EYS_DROME",
            "refseq_ac": "NP_001027571",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein eyes shut",
                    "type": "recommended"
                },
                {
                    "name": "CG33955-PF",
                    "type": "synonym"
                },
                {
                    "name": "Eye shut",
                    "type": "synonym"
                },
                {
                    "name": "Protein spacemaker",
                    "type": "synonym"
                },
                {
                    "name": "agrin-like",
                    "type": "synonym"
                },
                {
                    "name": "eyes shut, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "eyes shut",
                    "type": "synonym"
                },
                {
                    "name": "eyeshut",
                    "type": "synonym"
                },
                {
                    "name": "eys-PF",
                    "type": "synonym"
                },
                {
                    "name": "fibropellin",
                    "type": "synonym"
                },
                {
                    "name": "spacemaker",
                    "type": "synonym"
                },
                {
                    "name": "spam",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "eys",
                    "type": "recommended"
                },
                {
                    "name": "21A6",
                    "type": "synonym"
                },
                {
                    "name": "CG15388",
                    "type": "synonym"
                },
                {
                    "name": "CG15389",
                    "type": "synonym"
                },
                {
                    "name": "CG33955",
                    "type": "synonym"
                },
                {
                    "name": "CG7245",
                    "type": "synonym"
                },
                {
                    "name": "CT35437",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG33955",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG33955",
                    "type": "synonym"
                },
                {
                    "name": "EYS",
                    "type": "synonym"
                },
                {
                    "name": "Eyes Shut",
                    "type": "synonym"
                },
                {
                    "name": "Eys",
                    "type": "synonym"
                },
                {
                    "name": "MAb21A6",
                    "type": "synonym"
                },
                {
                    "name": "SPAM",
                    "type": "synonym"
                },
                {
                    "name": "Spam",
                    "type": "synonym"
                },
                {
                    "name": "eys",
                    "type": "synonym"
                },
                {
                    "name": "mAb 21A6",
                    "type": "synonym"
                },
                {
                    "name": "mAb21A6",
                    "type": "synonym"
                },
                {
                    "name": "spacemaker",
                    "type": "synonym"
                },
                {
                    "name": "spam",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A1F4-1",
            "evidence": [
                {
                    "id": "0110384",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110384"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110384"
}