{
    "disease_id": "DOID:0060844",
    "recommended_name": {
        "id": "DOID:0060844",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060844",
        "name": "Norrie disease",
        "description": "A syndrome characterized by degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients, and that has_material_basis_in mutation in the NDP gene on chromosome Xp11."
    },
    "synonyms": [
        {
            "id": "DOID:0060844",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060844",
            "name": "Episkopi blindness",
            "description": ""
        },
        {
            "id": "DOID:0060844",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060844",
            "name": "Norrie-Warburg disease",
            "description": ""
        },
        {
            "id": "DOID:0060844",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060844",
            "name": "atrophia bulborum hereditaria",
            "description": ""
        },
        {
            "id": "MONDO:0010691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010691",
            "name": "Norrie disease",
            "description": "A rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders."
        },
        {
            "id": "MONDO:0010691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010691",
            "name": "Episkopi blindness",
            "description": ""
        },
        {
            "id": "MONDO:0010691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010691",
            "name": "Norrie disease",
            "description": ""
        },
        {
            "id": "MONDO:0010691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010691",
            "name": "Norrie disease, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010691",
            "name": "Norrie-Warburg disease",
            "description": ""
        },
        {
            "id": "MONDO:0010691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010691",
            "name": "atrophia bulborum hereditaria",
            "description": ""
        },
        {
            "id": "MONDO:0010691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010691",
            "name": "Anderson-Warburg syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010691",
            "name": "ND",
            "description": ""
        },
        {
            "id": "MONDO:0010691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010691",
            "name": "NDP",
            "description": ""
        },
        {
            "id": "MONDO:0010691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010691",
            "name": "Norrie syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010691",
            "name": "Norrie-Warburg syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010691",
            "name": "fetal iritis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010691",
            "name": "foetal iritis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010691",
            "name": "pseudoglioma",
            "description": ""
        },
        {
            "id": "MIM:310600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/310600",
            "name": "Norrie disease",
            "description": "Norrie disease"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060844"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060844",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060844",
            "categories": []
        },
        {
            "id": "MONDO:0010691",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010691",
            "categories": []
        },
        {
            "id": "MIM:310600",
            "database": "MIM",
            "url": "https://www.omim.org/entry/310600",
            "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": "0060844",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060844"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0R4IVK2-1",
            "uniprot_ac": "A0A0R4IVK2",
            "uniprot_id": "A0A0R4IVK2_DANRE",
            "refseq_ac": "NP_001292398",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Frizzled-4",
                    "type": "recommended"
                },
                {
                    "name": "frizzled homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "frizzled homolog 4",
                    "type": "synonym"
                },
                {
                    "name": "frizzled-4 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fzd4",
                    "type": "recommended"
                },
                {
                    "name": "fz1",
                    "type": "synonym"
                },
                {
                    "name": "fzd4",
                    "type": "synonym"
                },
                {
                    "name": "zg01",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IVK2-1",
            "evidence": [
                {
                    "id": "0060844",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060844"
                }
            ]
        },
        {
            "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": "0060844",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060844"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61088-1",
            "uniprot_ac": "Q61088",
            "uniprot_id": "FZD4_MOUSE",
            "refseq_ac": "NP_032081",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Frizzled-4",
                    "type": "recommended"
                },
                {
                    "name": "Fz-4",
                    "type": "synonym"
                },
                {
                    "name": "frizzled homolog 4",
                    "type": "synonym"
                },
                {
                    "name": "frizzled-4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "frizzled-4",
                    "type": "synonym"
                },
                {
                    "name": "fz-4",
                    "type": "synonym"
                },
                {
                    "name": "mFz4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fzd4",
                    "type": "recommended"
                },
                {
                    "name": "Fz4",
                    "type": "synonym"
                },
                {
                    "name": "Fzd4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61088-1",
            "evidence": [
                {
                    "id": "0060844",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060844"
                }
            ]
        },
        {
            "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": "310600",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/310600"
                },
                {
                    "id": "0060844",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060844"
                }
            ]
        },
        {
            "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",
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                {
                    "id": "0060844",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060844"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QZH0-1",
            "uniprot_ac": "Q9QZH0",
            "uniprot_id": "FZD4_RAT",
            "refseq_ac": "NP_072145",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Frizzled-4",
                    "type": "recommended"
                },
                {
                    "name": "Fz-4",
                    "type": "synonym"
                },
                {
                    "name": "frizzled family receptor 4",
                    "type": "synonym"
                },
                {
                    "name": "frizzled receptor 4",
                    "type": "synonym"
                },
                {
                    "name": "frizzled-4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "frizzled-4",
                    "type": "synonym"
                },
                {
                    "name": "fz-4",
                    "type": "synonym"
                },
                {
                    "name": "rFz4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fzd4",
                    "type": "recommended"
                },
                {
                    "name": "Fzd4",
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                }
            ],
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                {
                    "id": "0060844",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060844"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NBW1-1",
            "uniprot_ac": "Q9NBW1",
            "uniprot_id": "FRIZ4_DROME",
            "refseq_ac": "NP_511068",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Frizzled-4",
                    "type": "recommended"
                },
                {
                    "name": "CG4626-PA",
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                },
                {
                    "name": "Frizzled4",
                    "type": "synonym"
                },
                {
                    "name": "dFz4",
                    "type": "synonym"
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                {
                    "name": "frizzled 4, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "frizzled 4",
                    "type": "synonym"
                },
                {
                    "name": "fz4-PA",
                    "type": "synonym"
                }
            ],
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                    "name": "fz4",
                    "type": "recommended"
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                    "name": "CG4626",
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                },
                {
                    "name": "DFz4",
                    "type": "synonym"
                },
                {
                    "name": "Dfz4",
                    "type": "synonym"
                },
                {
                    "name": "Dm Fz4",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4626",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4626",
                    "type": "synonym"
                },
                {
                    "name": "Fz4",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0170980.10",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0170980.11",
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                },
                {
                    "name": "fz4",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060844",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060844"
                }
            ]
        },
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            "uniprot_canonical_ac": "Q9ULV1-1",
            "uniprot_ac": "Q9ULV1",
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Frizzled-4",
                    "type": "recommended"
                },
                {
                    "name": "Fz-4",
                    "type": "synonym"
                },
                {
                    "name": "FzE4",
                    "type": "synonym"
                },
                {
                    "name": "WNT receptor frizzled-4",
                    "type": "synonym"
                },
                {
                    "name": "frizzled 4, seven transmembrane spanning receptor",
                    "type": "synonym"
                },
                {
                    "name": "frizzled family receptor 4",
                    "type": "synonym"
                },
                {
                    "name": "frizzled homolog 4",
                    "type": "synonym"
                },
                {
                    "name": "frizzled-4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "hFz4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FZD4",
                    "type": "recommended"
                },
                {
                    "name": "CD344",
                    "type": "synonym"
                },
                {
                    "name": "EVR1",
                    "type": "synonym"
                },
                {
                    "name": "FEVR",
                    "type": "synonym"
                },
                {
                    "name": "FZD4S",
                    "type": "synonym"
                },
                {
                    "name": "FZD4",
                    "type": "synonym"
                },
                {
                    "name": "Fz-4",
                    "type": "synonym"
                },
                {
                    "name": "Fz4",
                    "type": "synonym"
                },
                {
                    "name": "FzE4",
                    "type": "synonym"
                },
                {
                    "name": "GPCR",
                    "type": "synonym"
                },
                {
                    "name": "hFz4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ULV1-1",
            "evidence": [
                {
                    "id": "0060844",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060844"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060844"
}