{
    "disease_id": "DOID:0080614",
    "recommended_name": {
        "id": "DOID:0080614",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080614",
        "name": "oculocutaneous albinism type VI",
        "description": "An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of the SLC24A5 gene on chromosome 15q21.1."
    },
    "synonyms": [
        {
            "id": "MONDO:0018264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018264",
            "name": "oculocutaneous albinism type 6",
            "description": "A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity."
        },
        {
            "id": "MONDO:0018264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018264",
            "name": "OCA6",
            "description": ""
        },
        {
            "id": "MIM:113750",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/113750",
            "name": "Albinism, oculocutaneous, 6",
            "description": "Albinism, oculocutaneous, 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080614"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080614",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080614",
            "categories": []
        },
        {
            "id": "MONDO:0018264",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018264",
            "categories": []
        },
        {
            "id": "MIM:113750",
            "database": "MIM",
            "url": "https://www.omim.org/entry/113750",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q49SH1-1",
            "uniprot_ac": "Q49SH1",
            "uniprot_id": "NCKX5_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": "Sodium/potassium/calcium exchanger 5",
                    "type": "recommended"
                },
                {
                    "name": "Na(+)/K(+)/Ca(2+)-exchange protein 5",
                    "type": "synonym"
                },
                {
                    "name": "Protein golden",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 24 member 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc24a5",
                    "type": "recommended"
                },
                {
                    "name": "nckx5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q49SH1-1",
            "evidence": [
                {
                    "id": "0080614",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080614"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8C261-1",
            "uniprot_ac": "Q8C261",
            "uniprot_id": "NCKX5_MOUSE",
            "refseq_ac": "NP_778199",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium/potassium/calcium exchanger 5",
                    "type": "recommended"
                },
                {
                    "name": "K-independent Na+/Ca2+ exchanger JSX",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/K(+)/Ca(2+)-exchange protein 5",
                    "type": "synonym"
                },
                {
                    "name": "Na-Ca exchanger 5",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 24 member 5",
                    "type": "synonym"
                },
                {
                    "name": "sodium/potassion/calcium exchanger 5",
                    "type": "synonym"
                },
                {
                    "name": "sodium/potassium/calcium exchanger 5 precursor",
                    "type": "synonym"
                },
                {
                    "name": "sodium/potassium/calcium exchanger 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc24a5",
                    "type": "recommended"
                },
                {
                    "name": "F630045L20Rik",
                    "type": "synonym"
                },
                {
                    "name": "JSX",
                    "type": "synonym"
                },
                {
                    "name": "NCKX5",
                    "type": "synonym"
                },
                {
                    "name": "NCX5",
                    "type": "synonym"
                },
                {
                    "name": "Nckx5",
                    "type": "synonym"
                },
                {
                    "name": "Oca6",
                    "type": "synonym"
                },
                {
                    "name": "Slc24a5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8C261-1",
            "evidence": [
                {
                    "id": "0080614",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080614"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q71RS6-1",
            "uniprot_ac": "Q71RS6",
            "uniprot_id": "NCKX5_HUMAN",
            "refseq_ac": "NP_995322",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium/potassium/calcium exchanger 5",
                    "type": "recommended"
                },
                {
                    "name": "Na(+)/K(+)/Ca(2+)-exchange protein 5",
                    "type": "synonym"
                },
                {
                    "name": "Na/Ca-K exchanger 5",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 24 member 5",
                    "type": "synonym"
                },
                {
                    "name": "ion transporter JSX",
                    "type": "synonym"
                },
                {
                    "name": "oculocutaneous albinism 6 (autosomal recessive)",
                    "type": "synonym"
                },
                {
                    "name": "sodium/potassium/calcium exchanger 5 precursor",
                    "type": "synonym"
                },
                {
                    "name": "sodium/potassium/calcium exchanger 5",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 24 (sodium/potassium/calcium exchanger), member 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC24A5",
                    "type": "recommended"
                },
                {
                    "name": "JSX",
                    "type": "synonym"
                },
                {
                    "name": "NCKX5",
                    "type": "synonym"
                },
                {
                    "name": "OCA6",
                    "type": "synonym"
                },
                {
                    "name": "SHEP4",
                    "type": "synonym"
                },
                {
                    "name": "SLC24A5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q71RS6-1",
            "evidence": [
                {
                    "id": "113750",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/113750"
                },
                {
                    "id": "0080614",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080614"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K402-1",
            "uniprot_ac": "A0A0G2K402",
            "uniprot_id": "A0A0G2K402_RAT",
            "refseq_ac": "NP_001013223",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myelin expression factor 2",
                    "type": "recommended"
                },
                {
                    "name": "myelin basic protein expression factor 2, repressor",
                    "type": "synonym"
                },
                {
                    "name": "myelin expression factor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myef2",
                    "type": "recommended"
                },
                {
                    "name": "Slc24a5",
                    "type": "recommended"
                },
                {
                    "name": "Myef2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K402-1",
            "evidence": [
                {
                    "id": "0080614",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080614"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VN12-1",
            "uniprot_ac": "Q9VN12",
            "uniprot_id": "NCKXH_DROME",
            "refseq_ac": "NP_001262252",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable sodium/potassium/calcium exchanger CG1090",
                    "type": "recommended"
                },
                {
                    "name": "CG1090-PI",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/K(+)/Ca(2+)-exchange protein CG1090",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG1090",
                    "type": "recommended"
                },
                {
                    "name": "CG1090",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1090",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1090",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VN12-1",
            "evidence": [
                {
                    "id": "0080614",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080614"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080614"
}