{
    "disease_id": "DOID:0060763",
    "recommended_name": {
        "id": "DOID:0060763",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060763",
        "name": "X-linked juvenile retinoschisis 1",
        "description": "A retinoschisis characterized by schisis (splitting) of the neural retina leading to reduced visual acuity in males due that has_material_basis_in the RS1 gene on chromosome Xp22."
    },
    "synonyms": [
        {
            "id": "DOID:0060763",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060763",
            "name": "X-linked juvenile retinoschisis",
            "description": ""
        },
        {
            "id": "DOID:0060763",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060763",
            "name": "X-linked retinoschisis",
            "description": ""
        },
        {
            "id": "DOID:0060763",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060763",
            "name": "XLRS",
            "description": ""
        },
        {
            "id": "MONDO:0010725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010725",
            "name": "X-linked retinoschisis",
            "description": "A genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration."
        },
        {
            "id": "MONDO:0010725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010725",
            "name": "X-linked juvenile retinoschisis",
            "description": ""
        },
        {
            "id": "MONDO:0010725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010725",
            "name": "X-linked juvenile retinoschisis type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010725",
            "name": "X-linked retinoschisis",
            "description": ""
        },
        {
            "id": "MONDO:0010725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010725",
            "name": "XLRS",
            "description": ""
        },
        {
            "id": "MONDO:0010725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010725",
            "name": "juvenile X-linked retinoschisis",
            "description": ""
        },
        {
            "id": "MONDO:0010725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010725",
            "name": "retinoschisis, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010725",
            "name": "retinoschisis, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010725",
            "name": "RS",
            "description": ""
        },
        {
            "id": "MONDO:0010725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010725",
            "name": "RS1",
            "description": ""
        },
        {
            "id": "MONDO:0010725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010725",
            "name": "XJR",
            "description": ""
        },
        {
            "id": "MONDO:0010725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010725",
            "name": "XLRS1",
            "description": ""
        },
        {
            "id": "MONDO:0010725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010725",
            "name": "juvenile retinoschisis",
            "description": ""
        },
        {
            "id": "MONDO:0010725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010725",
            "name": "retinoschisis 1, X-linked, juvenile",
            "description": ""
        },
        {
            "id": "MONDO:0010725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010725",
            "name": "retinoschisis X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010725",
            "name": "retinoschisis juvenile X chromosome-linked",
            "description": ""
        },
        {
            "id": "MIM:312700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/312700",
            "name": "Retinoschisis juvenile X-linked 1",
            "description": "Retinoschisis juvenile X-linked 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060763"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060763",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060763",
            "categories": []
        },
        {
            "id": "MONDO:0010725",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010725",
            "categories": []
        },
        {
            "id": "MIM:312700",
            "database": "MIM",
            "url": "https://www.omim.org/entry/312700",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9Z1L4-1",
            "uniprot_ac": "Q9Z1L4",
            "uniprot_id": "XLRS1_MOUSE",
            "refseq_ac": "NP_035432",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinoschisin",
                    "type": "recommended"
                },
                {
                    "name": "X-linked juvenile retinoschisis protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "retinoschisin precursor",
                    "type": "synonym"
                },
                {
                    "name": "retinoschisin",
                    "type": "synonym"
                },
                {
                    "name": "retinoschisis 1 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rs1",
                    "type": "recommended"
                },
                {
                    "name": "Rs1h",
                    "type": "synonym"
                },
                {
                    "name": "Rs1",
                    "type": "synonym"
                },
                {
                    "name": "Xlrs1",
                    "type": "synonym"
                },
                {
                    "name": "tmgc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z1L4-1",
            "evidence": [
                {
                    "id": "0060763",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060763"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15537-1",
            "uniprot_ac": "O15537",
            "uniprot_id": "XLRS1_HUMAN",
            "refseq_ac": "NP_000321",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinoschisin",
                    "type": "recommended"
                },
                {
                    "name": "X-linked juvenile retinoschisis protein",
                    "type": "synonym"
                },
                {
                    "name": "retinoschisin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RS1",
                    "type": "recommended"
                },
                {
                    "name": "RS1",
                    "type": "synonym"
                },
                {
                    "name": "RS",
                    "type": "synonym"
                },
                {
                    "name": "XLRS1",
                    "type": "synonym"
                }
            ],
            "record_id": "O15537-1",
            "evidence": [
                {
                    "id": "312700",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/312700"
                },
                {
                    "id": "0060763",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060763"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A7UJ12-1",
            "uniprot_ac": "A7UJ12",
            "uniprot_id": "A7UJ12_RAT",
            "refseq_ac": "NP_001098113",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinoschisin",
                    "type": "recommended"
                },
                {
                    "name": "retinoschisin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rs1",
                    "type": "recommended"
                },
                {
                    "name": "Rs1",
                    "type": "synonym"
                }
            ],
            "record_id": "A7UJ12-1",
            "evidence": [
                {
                    "id": "0060763",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060763"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060763"
}