{
    "disease_id": "DOID:0070097",
    "recommended_name": {
        "id": "DOID:0070097",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070097",
        "name": "oculocutaneous albinism type III",
        "description": "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the TYRP1 gene on chromosome 9p23."
    },
    "synonyms": [
        {
            "id": "DOID:0070097",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070097",
            "name": "OCA3",
            "description": ""
        },
        {
            "id": "DOID:0070097",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070097",
            "name": "Rufous Oculocutaneous Albinism",
            "description": ""
        },
        {
            "id": "MONDO:0008747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008747",
            "name": "oculocutaneous albinism type 3",
            "description": "Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population."
        },
        {
            "id": "MONDO:0008747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008747",
            "name": "OCA3",
            "description": ""
        },
        {
            "id": "MONDO:0008747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008747",
            "name": "Red oculocutaneous albinism",
            "description": ""
        },
        {
            "id": "MONDO:0008747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008747",
            "name": "TYRP1 oculocutaneous albinism",
            "description": ""
        },
        {
            "id": "MONDO:0008747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008747",
            "name": "oculocutaneous albinism caused by mutation in TYRP1",
            "description": ""
        },
        {
            "id": "MONDO:0008747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008747",
            "name": "oculocutaneous albinism type 3",
            "description": ""
        },
        {
            "id": "MONDO:0008747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008747",
            "name": "rufous oculocutaneous albinism",
            "description": ""
        },
        {
            "id": "MONDO:0008747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008747",
            "name": "xanthous oculocutaneous albinism",
            "description": ""
        },
        {
            "id": "MONDO:0008747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008747",
            "name": "ROCA",
            "description": ""
        },
        {
            "id": "MONDO:0008747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008747",
            "name": "Xanthism",
            "description": ""
        },
        {
            "id": "MONDO:0008747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008747",
            "name": "albinism, oculocutaneous, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0008747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008747",
            "name": "albinism, oculocutaneous, type III",
            "description": ""
        },
        {
            "id": "MONDO:0008747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008747",
            "name": "rufous OCA",
            "description": ""
        },
        {
            "id": "MONDO:0008747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008747",
            "name": "oculocutaneous albinism type 3",
            "description": "Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population."
        },
        {
            "id": "MONDO:0008747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008747",
            "name": "OCA3",
            "description": ""
        },
        {
            "id": "MONDO:0008747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008747",
            "name": "Red oculocutaneous albinism",
            "description": ""
        },
        {
            "id": "MONDO:0008747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008747",
            "name": "TYRP1 oculocutaneous albinism",
            "description": ""
        },
        {
            "id": "MONDO:0008747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008747",
            "name": "oculocutaneous albinism caused by mutation in TYRP1",
            "description": ""
        },
        {
            "id": "MONDO:0008747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008747",
            "name": "oculocutaneous albinism type 3",
            "description": ""
        },
        {
            "id": "MONDO:0008747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008747",
            "name": "rufous oculocutaneous albinism",
            "description": ""
        },
        {
            "id": "MONDO:0008747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008747",
            "name": "xanthous oculocutaneous albinism",
            "description": ""
        },
        {
            "id": "MONDO:0008747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008747",
            "name": "ROCA",
            "description": ""
        },
        {
            "id": "MONDO:0008747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008747",
            "name": "Xanthism",
            "description": ""
        },
        {
            "id": "MONDO:0008747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008747",
            "name": "albinism, oculocutaneous, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0008747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008747",
            "name": "albinism, oculocutaneous, type III",
            "description": ""
        },
        {
            "id": "MONDO:0008747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008747",
            "name": "rufous OCA",
            "description": ""
        },
        {
            "id": "MIM:203290",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/203290",
            "name": "Albinism, oculocutaneous, 3",
            "description": "Albinism, oculocutaneous, 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070097"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070097",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070097",
            "categories": []
        },
        {
            "id": "MONDO:0008747",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008747",
            "categories": []
        },
        {
            "id": "MIM:203290",
            "database": "MIM",
            "url": "https://www.omim.org/entry/203290",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P07147-1",
            "uniprot_ac": "P07147",
            "uniprot_id": "TYRP1_MOUSE",
            "refseq_ac": "NP_001268943",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "5,6-dihydroxyindole-2-carboxylic acid oxidase",
                    "type": "recommended"
                },
                {
                    "name": "1.14.18.-",
                    "type": "synonym"
                },
                {
                    "name": "5,6-dihydroxyindole-2-carboxylic acid oxidase precursor",
                    "type": "synonym"
                },
                {
                    "name": "5,6-dihydroxyindole-2-carboxylic acid oxidase",
                    "type": "synonym"
                },
                {
                    "name": "Brown locus protein",
                    "type": "synonym"
                },
                {
                    "name": "Catalase B",
                    "type": "synonym"
                },
                {
                    "name": "DHICA oxidase",
                    "type": "synonym"
                },
                {
                    "name": "TRP-1",
                    "type": "synonym"
                },
                {
                    "name": "TRP1",
                    "type": "synonym"
                },
                {
                    "name": "TRP",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosinase-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "brown locus protein",
                    "type": "synonym"
                },
                {
                    "name": "catalase B",
                    "type": "synonym"
                },
                {
                    "name": "iris stromal atrophy",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tyrp1",
                    "type": "recommended"
                },
                {
                    "name": "Oca3",
                    "type": "synonym"
                },
                {
                    "name": "TRP-1",
                    "type": "synonym"
                },
                {
                    "name": "TRP1",
                    "type": "synonym"
                },
                {
                    "name": "Tyrp-1",
                    "type": "synonym"
                },
                {
                    "name": "Tyrp1",
                    "type": "synonym"
                },
                {
                    "name": "Tyrp",
                    "type": "synonym"
                },
                {
                    "name": "brown",
                    "type": "synonym"
                },
                {
                    "name": "b",
                    "type": "synonym"
                },
                {
                    "name": "isa",
                    "type": "synonym"
                }
            ],
            "record_id": "P07147-1",
            "evidence": [
                {
                    "id": "0070097",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070097"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17643-1",
            "uniprot_ac": "P17643",
            "uniprot_id": "TYRP1_HUMAN",
            "refseq_ac": "NP_000541",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "5,6-dihydroxyindole-2-carboxylic acid oxidase",
                    "type": "recommended"
                },
                {
                    "name": "1.14.18.-",
                    "type": "synonym"
                },
                {
                    "name": "5,6-dihydroxyindole-2-carboxylic acid oxidase precursor",
                    "type": "synonym"
                },
                {
                    "name": "5,6-dihydroxyindole-2-carboxylic acid oxidase",
                    "type": "synonym"
                },
                {
                    "name": "Catalase B",
                    "type": "synonym"
                },
                {
                    "name": "DHICA oxidase",
                    "type": "synonym"
                },
                {
                    "name": "Glycoprotein 75",
                    "type": "synonym"
                },
                {
                    "name": "Melanoma antigen gp75",
                    "type": "synonym"
                },
                {
                    "name": "TRP-1",
                    "type": "synonym"
                },
                {
                    "name": "TRP1",
                    "type": "synonym"
                },
                {
                    "name": "TRP",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosinase-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "catalase B",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein 75",
                    "type": "synonym"
                },
                {
                    "name": "melanoma antigen gp75",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TYRP1",
                    "type": "recommended"
                },
                {
                    "name": "CAS2",
                    "type": "synonym"
                },
                {
                    "name": "CATB",
                    "type": "synonym"
                },
                {
                    "name": "GP75",
                    "type": "synonym"
                },
                {
                    "name": "OCA3",
                    "type": "synonym"
                },
                {
                    "name": "TRP1",
                    "type": "synonym"
                },
                {
                    "name": "TRP",
                    "type": "synonym"
                },
                {
                    "name": "TYRP1",
                    "type": "synonym"
                },
                {
                    "name": "TYRP",
                    "type": "synonym"
                },
                {
                    "name": "TYRRP",
                    "type": "synonym"
                },
                {
                    "name": "b-PROTEIN",
                    "type": "synonym"
                }
            ],
            "record_id": "P17643-1",
            "evidence": [
                {
                    "id": "203290",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/203290"
                },
                {
                    "id": "0070097",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070097"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZH71-1",
            "uniprot_ac": "D3ZH71",
            "uniprot_id": "D3ZH71_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "5,6-dihydroxyindole-2-carboxylic acid oxidase",
                    "type": "recommended"
                },
                {
                    "name": "Catalase B",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosinase-related protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tyrp1",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZH71-1",
            "evidence": [
                {
                    "id": "0070097",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070097"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070097"
}