{
    "disease_id": "DOID:0070094",
    "recommended_name": {
        "id": "DOID:0070094",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070094",
        "name": "oculocutaneous albinism type IA",
        "description": "An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no residual protein activity."
    },
    "synonyms": [
        {
            "id": "DOID:0070094",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070094",
            "name": "OCA1A",
            "description": ""
        },
        {
            "id": "DOID:0070094",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070094",
            "name": "Oculocutaneous Albinism, Tyrosinase-Negative",
            "description": ""
        },
        {
            "id": "MONDO:0008745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008745",
            "name": "oculocutaneous albinism type 1A",
            "description": "Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves."
        },
        {
            "id": "MONDO:0008745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008745",
            "name": "OCA1A",
            "description": ""
        },
        {
            "id": "MONDO:0008745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008745",
            "name": "TYR oculocutaneous albinism",
            "description": ""
        },
        {
            "id": "MONDO:0008745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008745",
            "name": "Tyr oculocutaneous albinism",
            "description": ""
        },
        {
            "id": "MONDO:0008745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008745",
            "name": "oculocutaneous albinism caused by mutation in TYR",
            "description": ""
        },
        {
            "id": "MONDO:0008745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008745",
            "name": "oculocutaneous albinism caused by mutation in Tyr",
            "description": ""
        },
        {
            "id": "MONDO:0008745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008745",
            "name": "oculocutaneous albinism, tyrosinase-negative",
            "description": ""
        },
        {
            "id": "MONDO:0008745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008745",
            "name": "tyrosinase-negative oculocutaneous albinism",
            "description": ""
        },
        {
            "id": "MONDO:0008745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008745",
            "name": "albinism, oculocutaneous, type IA",
            "description": ""
        },
        {
            "id": "MIM:203100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/203100",
            "name": "Albinism, oculocutaneous, 1A",
            "description": "Albinism, oculocutaneous, 1A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070094"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070094",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070094",
            "categories": []
        },
        {
            "id": "MONDO:0008745",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008745",
            "categories": []
        },
        {
            "id": "MIM:203100",
            "database": "MIM",
            "url": "https://www.omim.org/entry/203100",
            "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": "0070094",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070094"
                }
            ]
        },
        {
            "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": "0070094",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070094"
                }
            ]
        },
        {
            "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": "203100",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/203100"
                },
                {
                    "id": "0070094",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070094"
                }
            ]
        },
        {
            "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": "0070094",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070094"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070094"
}