{
    "disease_id": "DOID:0070100",
    "recommended_name": {
        "id": "DOID:0070100",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070100",
        "name": "oculocutaneous albinism type VII",
        "description": "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of C10orf11 on chromosome 10q22.2-q22.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070100",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070100",
            "name": "OCA7",
            "description": ""
        },
        {
            "id": "MONDO:0014070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014070",
            "name": "oculocutaneous albinism type 7",
            "description": "Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination."
        },
        {
            "id": "MONDO:0014070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014070",
            "name": "LRMDA oculocutaneous albinism",
            "description": ""
        },
        {
            "id": "MONDO:0014070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014070",
            "name": "OCA7",
            "description": ""
        },
        {
            "id": "MONDO:0014070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014070",
            "name": "oculocutaneous albinism caused by mutation in LRMDA",
            "description": ""
        },
        {
            "id": "MONDO:0014070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014070",
            "name": "albinism, oculocutaneous, type 7",
            "description": ""
        },
        {
            "id": "MONDO:0014070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014070",
            "name": "albinism, oculocutaneous, type VII",
            "description": ""
        },
        {
            "id": "MONDO:0014070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014070",
            "name": "oculocutaneous albinism type VII",
            "description": ""
        },
        {
            "id": "MIM:615179",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615179",
            "name": "Albinism, oculocutaneous, 7",
            "description": "Albinism, oculocutaneous, 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070100"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070100",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070100",
            "categories": []
        },
        {
            "id": "MONDO:0014070",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014070",
            "categories": []
        },
        {
            "id": "MIM:615179",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615179",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8IMQ4-1",
            "uniprot_ac": "Q8IMQ4",
            "uniprot_id": "Q8IMQ4_DROME",
            "refseq_ac": "NP_733184",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leucine-rich melanocyte differentiation-associated protein",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CG31076-PB",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG31076",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CG31076",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CG31076",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG6309; CT19744; Dmel\\CG31076",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CG6309",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CT19744",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31076",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0070100",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070100"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D9B4-1",
            "uniprot_ac": "Q9D9B4",
            "uniprot_id": "LRMDA_MOUSE",
            "refseq_ac": "NP_082551",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leucine-rich melanocyte differentiation-associated protein",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "leucine-rich melanocyte differentiation-associated protein",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeat-containing protein C10orf11 homolog",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lrmda",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "1700112E06Rik; 2700009F18Rik",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "1700112E06Rik",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Lrmda",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0070100",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070100"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H2I8-1",
            "uniprot_ac": "Q9H2I8",
            "uniprot_id": "LRMDA_HUMAN",
            "refseq_ac": "NP_114413",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leucine-rich melanocyte differentiation-associated protein",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "leucine-rich melanocyte differentiation-associated protein isoform 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeat-containing protein C10orf11; leucine-rich melanocyte differentiation-associated protein",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LRMDA",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "C10orf11; CDA017",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "C10orf11",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CDA017",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "LRMDA",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0070100",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070100"
                },
                {
                    "id": "615179",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615179"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q501Y0-1",
            "uniprot_ac": "Q501Y0",
            "uniprot_id": "Q501Y0_DANRE",
            "refseq_ac": "NP_001018537",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "C10orf11 homolog (H. sapiens)",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Leucine-rich melanocyte differentiation-associated protein isoform X1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Leucine-rich melanocyte differentiation-associated",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "c13h10orf11 homolog",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich melanocyte differentiation-associated protein",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lrmda",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "c10orf11; c13h10orf11; si:ch211-39f22.1; zgc:112463",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "c10orf11",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "c13h10orf11",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "lrmda",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-39f22.1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "zgc:112463",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0070100",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070100"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6GL34-1",
            "uniprot_ac": "A0A8I6GL34",
            "uniprot_id": "A0A8I6GL34_RAT",
            "refseq_ac": "NP_001102911",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leucine rich melanocyte differentiation associated",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich melanocyte differentiation-associated protein",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeat-containing protein C10orf11 homolog",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lrmda",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Lrmda",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0070100",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070100"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070100"
}