{
    "disease_id": "DOID:0070098",
    "recommended_name": {
        "id": "DOID:0070098",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070098",
        "name": "oculocutaneous albinism type IV",
        "description": "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the SLC45A2 gene on chromosome 5p13.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070098",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070098",
            "name": "OCA4",
            "description": ""
        },
        {
            "id": "MONDO:0011683",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011683",
            "name": "oculocutaneous albinism type 4",
            "description": "Oculocutaneous albinism type 4 (OCA4) is a type of OCA characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm."
        },
        {
            "id": "MONDO:0011683",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011683",
            "name": "OCA4",
            "description": ""
        },
        {
            "id": "MONDO:0011683",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011683",
            "name": "SLC45A2 oculocutaneous albinism",
            "description": ""
        },
        {
            "id": "MONDO:0011683",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011683",
            "name": "oculocutaneous albinism caused by mutation in SLC45A2",
            "description": ""
        },
        {
            "id": "MONDO:0011683",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011683",
            "name": "albinism, oculocutaneous, type IV",
            "description": ""
        },
        {
            "id": "MIM:606574",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606574",
            "name": "Albinism, oculocutaneous, 4",
            "description": "Albinism, oculocutaneous, 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070098"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070098",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070098",
            "categories": []
        },
        {
            "id": "MONDO:0011683",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011683",
            "categories": []
        },
        {
            "id": "MIM:606574",
            "database": "MIM",
            "url": "https://www.omim.org/entry/606574",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P58355-1",
            "uniprot_ac": "P58355",
            "uniprot_id": "S45A2_MOUSE",
            "refseq_ac": "NP_444307",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Membrane-associated transporter protein",
                    "type": "recommended"
                },
                {
                    "name": "B/AIM-1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Melanoma antigen AIM1",
                    "type": "synonym"
                },
                {
                    "name": "Protein AIM-1",
                    "type": "synonym"
                },
                {
                    "name": "Protein underwhite",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 45 member 2",
                    "type": "synonym"
                },
                {
                    "name": "dominant brown",
                    "type": "synonym"
                },
                {
                    "name": "melanoma antigen AIM1",
                    "type": "synonym"
                },
                {
                    "name": "membrane-associated transporter protein",
                    "type": "synonym"
                },
                {
                    "name": "protein AIM-1",
                    "type": "synonym"
                },
                {
                    "name": "protein underwhite",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc45a2",
                    "type": "recommended"
                },
                {
                    "name": "Aim-1",
                    "type": "synonym"
                },
                {
                    "name": "Aim1",
                    "type": "synonym"
                },
                {
                    "name": "Dbr",
                    "type": "synonym"
                },
                {
                    "name": "Matp",
                    "type": "synonym"
                },
                {
                    "name": "Oca4",
                    "type": "synonym"
                },
                {
                    "name": "Slc45a2",
                    "type": "synonym"
                },
                {
                    "name": "blanc-sale",
                    "type": "synonym"
                },
                {
                    "name": "bls",
                    "type": "synonym"
                },
                {
                    "name": "uw",
                    "type": "synonym"
                }
            ],
            "record_id": "P58355-1",
            "evidence": [
                {
                    "id": "0070098",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070098"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UMX9-1",
            "uniprot_ac": "Q9UMX9",
            "uniprot_id": "S45A2_HUMAN",
            "refseq_ac": "NP_001284346",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Membrane-associated transporter protein",
                    "type": "recommended"
                },
                {
                    "name": "Melanoma antigen AIM1",
                    "type": "synonym"
                },
                {
                    "name": "Protein AIM-1",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 45 member 2",
                    "type": "synonym"
                },
                {
                    "name": "antigen in melanoma 1",
                    "type": "synonym"
                },
                {
                    "name": "melanoma antigen AIM1",
                    "type": "synonym"
                },
                {
                    "name": "membrane-associated transporter protein isoform c",
                    "type": "synonym"
                },
                {
                    "name": "membrane-associated transporter protein",
                    "type": "synonym"
                },
                {
                    "name": "oculocutaneous albinism type 4",
                    "type": "synonym"
                },
                {
                    "name": "protein AIM-1",
                    "type": "synonym"
                },
                {
                    "name": "underwhite",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC45A2",
                    "type": "recommended"
                },
                {
                    "name": "1A1",
                    "type": "synonym"
                },
                {
                    "name": "AIM1",
                    "type": "synonym"
                },
                {
                    "name": "MATP",
                    "type": "synonym"
                },
                {
                    "name": "OCA4",
                    "type": "synonym"
                },
                {
                    "name": "SHEP5",
                    "type": "synonym"
                },
                {
                    "name": "SLC45A2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UMX9-1",
            "evidence": [
                {
                    "id": "606574",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/606574"
                },
                {
                    "id": "0070098",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070098"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZR99-1",
            "uniprot_ac": "D3ZR99",
            "uniprot_id": "D3ZR99_RAT",
            "refseq_ac": "NP_001101123",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 45, member 2",
                    "type": "synonym"
                },
                {
                    "name": "membrane associated transporter protein",
                    "type": "synonym"
                },
                {
                    "name": "membrane-associated transporter protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc45a2",
                    "type": "recommended"
                },
                {
                    "name": "Matp",
                    "type": "synonym"
                },
                {
                    "name": "Slc45a2",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZR99-1",
            "evidence": [
                {
                    "id": "0070098",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070098"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VSV1-1",
            "uniprot_ac": "Q9VSV1",
            "uniprot_id": "Q9VSV1_DROME",
            "refseq_ac": "NP_001261618",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG4484-PB",
                    "type": "synonym"
                },
                {
                    "name": "Slc45 ortholog 1",
                    "type": "synonym"
                },
                {
                    "name": "Slc45-1-PB",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 45 member 1, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 45 member 1, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 45 member 1, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 45 member 1, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 45 member 1, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "sucrose transporter",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc45-1",
                    "type": "recommended"
                },
                {
                    "name": "CG4484",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4484",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4484",
                    "type": "synonym"
                },
                {
                    "name": "Slc45-1",
                    "type": "synonym"
                },
                {
                    "name": "scrt",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VSV1-1",
            "evidence": [
                {
                    "id": "0070098",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070098"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070098"
}