{
    "disease_id": "DOID:0061110",
    "recommended_name": {
        "id": "DOID:0061110",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061110",
        "name": "retinitis pigmentosa 97",
        "description": "A retinitis pigmentosa characterized by onset of night blindness and visual field defects in the first decade of life, with later onset of reduced visual acuity that has_material_basis_in heterozygous mutation in the VWA8 gene on chromosome 13q14."
    },
    "synonyms": [
        {
            "id": "DOID:0061110",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061110",
            "name": "RP97",
            "description": ""
        },
        {
            "id": "MONDO:0957314",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957314",
            "name": "retinitis pigmentosa 97",
            "description": ""
        },
        {
            "id": "MIM:620422",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620422",
            "name": "Retinitis pigmentosa 97",
            "description": "Retinitis pigmentosa 97"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061110"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061110",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061110",
            "categories": []
        },
        {
            "id": "MONDO:0957314",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957314",
            "categories": []
        },
        {
            "id": "MIM:620422",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620422",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B0R0T1-1",
            "uniprot_ac": "B0R0T1",
            "uniprot_id": "VWA8_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "von Willebrand factor A domain-containing protein 8",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "vwa8",
                    "type": "recommended"
                },
                {
                    "name": "si:dkey-18l1.1",
                    "type": "synonym"
                }
            ],
            "record_id": "B0R0T1-1",
            "evidence": [
                {
                    "id": "0061110",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061110"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CC88-1",
            "uniprot_ac": "Q8CC88",
            "uniprot_id": "VWA8_MOUSE",
            "refseq_ac": "NP_082182",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "von Willebrand factor A domain-containing protein 8",
                    "type": "recommended"
                },
                {
                    "name": "von Willebrand factor A domain-containing protein 8 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "von Willebrand factor A domain-containing protein 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vwa8",
                    "type": "recommended"
                },
                {
                    "name": "1300010F03Rik",
                    "type": "synonym"
                },
                {
                    "name": "4932416F07Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0564",
                    "type": "synonym"
                },
                {
                    "name": "Vwa8",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0564",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CC88-1",
            "evidence": [
                {
                    "id": "0061110",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061110"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A3KMH1-1",
            "uniprot_ac": "A3KMH1",
            "uniprot_id": "VWA8_HUMAN",
            "refseq_ac": "NP_001009814",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "von Willebrand factor A domain-containing protein 8",
                    "type": "recommended"
                },
                {
                    "name": "P7BP2",
                    "type": "synonym"
                },
                {
                    "name": "PEX7-binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Pex7p-binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "von Willebrand factor A domain-containing protein 8 isoform b precursor",
                    "type": "synonym"
                },
                {
                    "name": "von Willebrand factor A domain-containing protein 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VWA8",
                    "type": "recommended"
                },
                {
                    "name": "KIAA0564",
                    "type": "synonym"
                },
                {
                    "name": "P7BP2",
                    "type": "synonym"
                },
                {
                    "name": "RP97",
                    "type": "synonym"
                },
                {
                    "name": "VWA8",
                    "type": "synonym"
                }
            ],
            "record_id": "A3KMH1-1",
            "evidence": [
                {
                    "id": "620422",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620422"
                },
                {
                    "id": "0061110",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061110"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K3W1-1",
            "uniprot_ac": "A0A0G2K3W1",
            "uniprot_id": "A0A0G2K3W1_RAT",
            "refseq_ac": "NP_001414212",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "von Willebrand factor A domain-containing protein 8",
                    "type": "recommended"
                },
                {
                    "name": "von Willebrand factor A domain-containing protein 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vwa8",
                    "type": "recommended"
                },
                {
                    "name": "RGD1308772",
                    "type": "synonym"
                },
                {
                    "name": "Vwa8",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K3W1-1",
            "evidence": [
                {
                    "id": "0061110",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061110"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PHH0-1",
            "uniprot_ac": "M9PHH0",
            "uniprot_id": "M9PHH0_DROME",
            "refseq_ac": "NP_001259381",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "von Willebrand factor A domain-containing protein 8",
                    "type": "recommended"
                },
                {
                    "name": "CG12149-PB",
                    "type": "synonym"
                },
                {
                    "name": "c12.2, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "c12.2-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "c12.2",
                    "type": "recommended"
                },
                {
                    "name": "CG12149",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12149",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12149",
                    "type": "synonym"
                },
                {
                    "name": "c12.2",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PHH0-1",
            "evidence": [
                {
                    "id": "0061110",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061110"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061110"
}