{
    "disease_id": "DOID:0111795",
    "recommended_name": {
        "id": "DOID:0111795",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111795",
        "name": "congenital nystagmus 6",
        "description": "A congenital nystagmus that has_material_basis_in hemizygous of homoxygous mutation in the GPR143 gene on chromosome Xp22.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111795",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111795",
            "name": "NYS6",
            "description": ""
        },
        {
            "id": "DOID:0111795",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111795",
            "name": "X-linked congenital nystagmus 6",
            "description": ""
        },
        {
            "id": "MONDO:0010435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010435",
            "name": "nystagmus 6, congenital, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010435",
            "name": "nystagmus 6, congenital, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010435",
            "name": "nystagmus 6, congenital, X-linked, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010435",
            "name": "NYS6",
            "description": ""
        },
        {
            "id": "MIM:300814",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300814",
            "name": "Nystagmus 6, congenital, X-linked",
            "description": "Nystagmus 6, congenital, X-linked"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111795"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111795",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111795",
            "categories": []
        },
        {
            "id": "MONDO:0010435",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010435",
            "categories": []
        },
        {
            "id": "MIM:300814",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300814",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P70259-1",
            "uniprot_ac": "P70259",
            "uniprot_id": "GP143_MOUSE",
            "refseq_ac": "NP_035081",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "G protein-coupled receptor 143",
                    "type": "recommended"
                },
                {
                    "name": "G-protein coupled receptor 143",
                    "type": "synonym"
                },
                {
                    "name": "MOA1",
                    "type": "synonym"
                },
                {
                    "name": "Ocular albinism type 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "homolog of human ocular albinism 1 (Nettleship-Falls)",
                    "type": "synonym"
                },
                {
                    "name": "ocular albinism type 1 protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gpr143",
                    "type": "recommended"
                },
                {
                    "name": "Gpr143",
                    "type": "synonym"
                },
                {
                    "name": "Oa1",
                    "type": "synonym"
                }
            ],
            "record_id": "P70259-1",
            "evidence": [
                {
                    "id": "0111795",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111795"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51810-1",
            "uniprot_ac": "P51810",
            "uniprot_id": "GP143_HUMAN",
            "refseq_ac": "NP_000264",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "G protein-coupled receptor 143",
                    "type": "recommended"
                },
                {
                    "name": "G-protein coupled receptor 143 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "Ocular albinism type 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "ocular albinism 1",
                    "type": "synonym"
                },
                {
                    "name": "ocular albinism type 1 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GPR143",
                    "type": "recommended"
                },
                {
                    "name": "GPR143",
                    "type": "synonym"
                },
                {
                    "name": "NYS6",
                    "type": "synonym"
                },
                {
                    "name": "OA1",
                    "type": "synonym"
                }
            ],
            "record_id": "P51810-1",
            "evidence": [
                {
                    "id": "300814",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300814"
                },
                {
                    "id": "0111795",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111795"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A082-1",
            "uniprot_ac": "D4A082",
            "uniprot_id": "D4A082_RAT",
            "refseq_ac": "NP_001100428",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "G-protein coupled receptor 143",
                    "type": "recommended"
                },
                {
                    "name": "G-protein coupled receptor 143",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gpr143",
                    "type": "recommended"
                },
                {
                    "name": "Gpr143",
                    "type": "synonym"
                },
                {
                    "name": "RGD1565799",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A082-1",
            "evidence": [
                {
                    "id": "0111795",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111795"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111795"
}