{
    "disease_id": "DOID:0050633",
    "recommended_name": {
        "id": "DOID:0050633",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050633",
        "name": "ocular albinism 1",
        "description": "An eye disease that is characterized by reduced pigmentation of the iris and the resulting impairment of visual acuity without significantly affecting the color of skin or hair and has_material_basis_in mutation in the GPR143 gene that encodes segments of the melanosomes that stores melanin."
    },
    "synonyms": [
        {
            "id": "DOID:0050633",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050633",
            "name": "Albinism ocular 1",
            "description": ""
        },
        {
            "id": "DOID:0050633",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050633",
            "name": "ocular albinism",
            "description": ""
        },
        {
            "id": "MONDO:0021019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021019",
            "name": "X-linked recessive ocular albinism",
            "description": "X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males."
        },
        {
            "id": "MONDO:0021019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021019",
            "name": "Nettleship-Falls syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0021019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021019",
            "name": "OA1",
            "description": ""
        },
        {
            "id": "MONDO:0021019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021019",
            "name": "XLOA",
            "description": ""
        },
        {
            "id": "MONDO:0021019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021019",
            "name": "ocular albinism type 1",
            "description": ""
        },
        {
            "id": "MONDO:0021019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021019",
            "name": "ocular albinism, Nettleship-Falls type",
            "description": ""
        },
        {
            "id": "MONDO:0021019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021019",
            "name": "ocular albinism, type I, Nettleship-Falls type",
            "description": ""
        },
        {
            "id": "MONDO:0021019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021019",
            "name": "X-linked ocular albinism",
            "description": ""
        },
        {
            "id": "MONDO:0021019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021019",
            "name": "albinism, ocular, type I",
            "description": ""
        },
        {
            "id": "MIM:300500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300500",
            "name": "Albinism ocular 1",
            "description": "Albinism ocular 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0090100",
            "label": "ocular albinism with sensorineural deafness",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0090100",
        "DOID:0050633"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050633",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050633",
            "categories": []
        },
        {
            "id": "MONDO:0021019",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021019",
            "categories": []
        },
        {
            "id": "MIM:300500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300500",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1PAD4-1",
            "uniprot_ac": "A0A8M1PAD4",
            "uniprot_id": "A0A8M1PAD4_DANRE",
            "refseq_ac": "NP_571088",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosinase",
                    "type": "recommended"
                },
                {
                    "name": "1.14.18.1",
                    "type": "synonym"
                },
                {
                    "name": "Monophenol monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "oca1",
                    "type": "synonym"
                },
                {
                    "name": "sdy",
                    "type": "synonym"
                },
                {
                    "name": "tyra",
                    "type": "synonym"
                },
                {
                    "name": "tyrosinase precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tyr",
                    "type": "recommended"
                },
                {
                    "name": "sandy",
                    "type": "synonym"
                },
                {
                    "name": "tyr",
                    "type": "synonym"
                },
                {
                    "name": "zgc:109705",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1PAD4-1",
            "evidence": [
                {
                    "id": "0050633",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050633"
                }
            ]
        },
        {
            "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": "0050633",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050633"
                }
            ]
        },
        {
            "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": "0050633",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050633"
                }
            ]
        },
        {
            "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": "0050633",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050633"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11344-1",
            "uniprot_ac": "P11344",
            "uniprot_id": "TYRO_MOUSE",
            "refseq_ac": "NP_035791",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosinase",
                    "type": "recommended"
                },
                {
                    "name": "1.14.18.1",
                    "type": "synonym"
                },
                {
                    "name": "Albino locus protein",
                    "type": "synonym"
                },
                {
                    "name": "Monophenol monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "albino locus protein",
                    "type": "synonym"
                },
                {
                    "name": "monophenol monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "tyrosinase isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tyr",
                    "type": "recommended"
                },
                {
                    "name": "Oca1",
                    "type": "synonym"
                },
                {
                    "name": "Tyr",
                    "type": "synonym"
                },
                {
                    "name": "albino",
                    "type": "synonym"
                },
                {
                    "name": "c",
                    "type": "synonym"
                },
                {
                    "name": "skc35",
                    "type": "synonym"
                }
            ],
            "record_id": "P11344-1",
            "evidence": [
                {
                    "id": "0050633",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050633"
                }
            ]
        },
        {
            "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",
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                {
                    "id": "300500",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300500"
                },
                {
                    "id": "0050633",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050633"
                }
            ]
        },
        {
            "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": "0050633",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050633"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A9G4-1",
            "uniprot_ac": "D4A9G4",
            "uniprot_id": "D4A9G4_RAT",
            "refseq_ac": "NP_001101005",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosinase",
                    "type": "recommended"
                },
                {
                    "name": "1.14.18.1",
                    "type": "synonym"
                },
                {
                    "name": "Monophenol monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "tyrosinase precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tyr",
                    "type": "recommended"
                },
                {
                    "name": "Tyr",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A9G4-1",
            "evidence": [
                {
                    "id": "0050633",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050633"
                }
            ]
        },
        {
            "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": "0050633",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050633"
                }
            ]
        },
        {
            "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": "0050633",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050633"
                }
            ]
        },
        {
            "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": "0050633",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050633"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P14679-1",
            "uniprot_ac": "P14679",
            "uniprot_id": "TYRO_HUMAN",
            "refseq_ac": "NP_000363",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosinase",
                    "type": "recommended"
                },
                {
                    "name": "1.14.18.1",
                    "type": "synonym"
                },
                {
                    "name": "LB24-AB",
                    "type": "synonym"
                },
                {
                    "name": "Monophenol monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "SK29-AB",
                    "type": "synonym"
                },
                {
                    "name": "Tumor rejection antigen AB",
                    "type": "synonym"
                },
                {
                    "name": "monophenol monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "oculocutaneous albinism IA",
                    "type": "synonym"
                },
                {
                    "name": "tumor rejection antigen AB",
                    "type": "synonym"
                },
                {
                    "name": "tyrosinase precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TYR",
                    "type": "recommended"
                },
                {
                    "name": "ATN",
                    "type": "synonym"
                },
                {
                    "name": "CMM8",
                    "type": "synonym"
                },
                {
                    "name": "OCA1A",
                    "type": "synonym"
                },
                {
                    "name": "OCA1",
                    "type": "synonym"
                },
                {
                    "name": "OCAIA",
                    "type": "synonym"
                },
                {
                    "name": "SHEP3",
                    "type": "synonym"
                },
                {
                    "name": "TYR",
                    "type": "synonym"
                }
            ],
            "record_id": "P14679-1",
            "evidence": [
                {
                    "id": "0050633",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050633"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050633"
}