{
    "disease_id": "DOID:0111413",
    "recommended_name": {
        "id": "DOID:0111413",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111413",
        "name": "X-linked exudative vitreoretinopathy 2",
        "description": "An exudative vitreoretinopathy that has_material_basis_in mutation in NDP on chromosome Xp11.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111413",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111413",
            "name": "EVR2",
            "description": ""
        },
        {
            "id": "DOID:0111413",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111413",
            "name": "EVRX",
            "description": ""
        },
        {
            "id": "DOID:0111413",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111413",
            "name": "FEVRX",
            "description": ""
        },
        {
            "id": "MONDO:0010588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010588",
            "name": "exudative vitreoretinopathy 2, X-linked",
            "description": "Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the NDP gene."
        },
        {
            "id": "MONDO:0010588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010588",
            "name": "NDP exudative vitreoretinopathy",
            "description": ""
        },
        {
            "id": "MONDO:0010588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010588",
            "name": "exudative vitreoretinopathy 2, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010588",
            "name": "exudative vitreoretinopathy 2, X-linked, X-linked recessive, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010588",
            "name": "exudative vitreoretinopathy caused by mutation in NDP",
            "description": ""
        },
        {
            "id": "MONDO:0010588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010588",
            "name": "EVR2",
            "description": ""
        },
        {
            "id": "MIM:305390",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/305390",
            "name": "Vitreoretinopathy, exudative 2",
            "description": "Vitreoretinopathy, exudative 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111413"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111413",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111413",
            "categories": []
        },
        {
            "id": "MONDO:0010588",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010588",
            "categories": []
        },
        {
            "id": "MIM:305390",
            "database": "MIM",
            "url": "https://www.omim.org/entry/305390",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58GGY9-1",
            "uniprot_ac": "A0AC58GGY9",
            "uniprot_id": "A0AC58GGY9_DANRE",
            "refseq_ac": "XP_073768995",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Norrin",
                    "type": "recommended"
                },
                {
                    "name": "norrin isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ndp",
                    "type": "recommended"
                },
                {
                    "name": "ndp",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58GGY9-1",
            "evidence": [
                {
                    "id": "0111413",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111413"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48744-1",
            "uniprot_ac": "P48744",
            "uniprot_id": "NDP_MOUSE",
            "refseq_ac": "NP_035013",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Norrin",
                    "type": "recommended"
                },
                {
                    "name": "Norrie disease protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "norrie disease protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "norrin precursor",
                    "type": "synonym"
                },
                {
                    "name": "norrin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndp",
                    "type": "recommended"
                },
                {
                    "name": "ND",
                    "type": "synonym"
                },
                {
                    "name": "Ndph",
                    "type": "synonym"
                },
                {
                    "name": "Ndp",
                    "type": "synonym"
                }
            ],
            "record_id": "P48744-1",
            "evidence": [
                {
                    "id": "0111413",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111413"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q00604-1",
            "uniprot_ac": "Q00604",
            "uniprot_id": "NDP_HUMAN",
            "refseq_ac": "NP_000257",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Norrin",
                    "type": "recommended"
                },
                {
                    "name": "NDP, norrin cystine knot growth factor",
                    "type": "synonym"
                },
                {
                    "name": "Norrie disease (pseudoglioma)",
                    "type": "synonym"
                },
                {
                    "name": "Norrie disease protein",
                    "type": "synonym"
                },
                {
                    "name": "X-linked exudative vitreoretinopathy 2 protein",
                    "type": "synonym"
                },
                {
                    "name": "norrie disease protein",
                    "type": "synonym"
                },
                {
                    "name": "norrin precursor",
                    "type": "synonym"
                },
                {
                    "name": "norrin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NDP",
                    "type": "recommended"
                },
                {
                    "name": "EVR2",
                    "type": "synonym"
                },
                {
                    "name": "FEVR",
                    "type": "synonym"
                },
                {
                    "name": "NDP",
                    "type": "synonym"
                },
                {
                    "name": "ND",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00604-1",
            "evidence": [
                {
                    "id": "305390",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/305390"
                },
                {
                    "id": "0111413",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111413"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZEP2-1",
            "uniprot_ac": "D3ZEP2",
            "uniprot_id": "D3ZEP2_RAT",
            "refseq_ac": "NP_001102284",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Norrin",
                    "type": "recommended"
                },
                {
                    "name": "NDP, norrin cystine knot growth factor",
                    "type": "synonym"
                },
                {
                    "name": "Norrie disease (pseudoglioma)",
                    "type": "synonym"
                },
                {
                    "name": "Norrie disease homolog",
                    "type": "synonym"
                },
                {
                    "name": "norrin precursor",
                    "type": "synonym"
                },
                {
                    "name": "norrin-like",
                    "type": "synonym"
                },
                {
                    "name": "norrin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndp",
                    "type": "recommended"
                },
                {
                    "name": "Ndph",
                    "type": "synonym"
                },
                {
                    "name": "Ndp",
                    "type": "synonym"
                },
                {
                    "name": "RGD1563968",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZEP2-1",
            "evidence": [
                {
                    "id": "0111413",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111413"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111413"
}