{
    "disease_id": "DOID:0061022",
    "recommended_name": {
        "id": "DOID:0061022",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061022",
        "name": "combined pituitary hormone deficiency 6",
        "description": "A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the OTX2 gene on chromosome 14q21."
    },
    "synonyms": [
        {
            "id": "DOID:0061022",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061022",
            "name": "CPHD6",
            "description": ""
        },
        {
            "id": "MONDO:0013518",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013518",
            "name": "pituitary hormone deficiency, combined, 6",
            "description": "Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the OTX2 gene."
        },
        {
            "id": "MONDO:0013518",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013518",
            "name": "OTX2 combined pituitary hormone deficiencies, genetic form",
            "description": ""
        },
        {
            "id": "MONDO:0013518",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013518",
            "name": "combined pituitary hormone deficiencies, genetic form caused by mutation in OTX2",
            "description": ""
        },
        {
            "id": "MONDO:0013518",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013518",
            "name": "pituitary hormone deficiency, combined, 6",
            "description": ""
        },
        {
            "id": "MONDO:0013518",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013518",
            "name": "pituitary hormone deficiency, combined, type 6",
            "description": ""
        },
        {
            "id": "MONDO:0013518",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013518",
            "name": "CPHD6",
            "description": ""
        },
        {
            "id": "MIM:613986",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613986",
            "name": "Pituitary hormone deficiency, combined, 6",
            "description": "Pituitary hormone deficiency, combined, 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061022"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061022",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061022",
            "categories": []
        },
        {
            "id": "MONDO:0013518",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013518",
            "categories": []
        },
        {
            "id": "MIM:613986",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613986",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q91981-1",
            "uniprot_ac": "Q91981",
            "uniprot_id": "OTX2_DANRE",
            "refseq_ac": "NP_571326",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein OTX2",
                    "type": "recommended"
                },
                {
                    "name": "Orthodenticle homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "etID309955.17",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein OTX2",
                    "type": "synonym"
                },
                {
                    "name": "orthodenticle homeobox 2",
                    "type": "synonym"
                },
                {
                    "name": "orthodenticle homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "zOTX2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "otx2",
                    "type": "recommended"
                },
                {
                    "name": "id:ibd2915",
                    "type": "synonym"
                },
                {
                    "name": "otx2b",
                    "type": "synonym"
                },
                {
                    "name": "otx2",
                    "type": "synonym"
                },
                {
                    "name": "zOtx2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136535",
                    "type": "synonym"
                },
                {
                    "name": "zotx-2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91981-1",
            "evidence": [
                {
                    "id": "0061022",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061022"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P80206-1",
            "uniprot_ac": "P80206",
            "uniprot_id": "OTX2_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein OTX2",
                    "type": "recommended"
                },
                {
                    "name": "Orthodenticle homolog 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Otx2",
                    "type": "recommended"
                },
                {
                    "name": "Otx-2",
                    "type": "synonym"
                }
            ],
            "record_id": "P80206-1",
            "evidence": [
                {
                    "id": "0061022",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061022"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32243-1",
            "uniprot_ac": "P32243",
            "uniprot_id": "OTX2_HUMAN",
            "refseq_ac": "NP_001257452",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein OTX2",
                    "type": "recommended"
                },
                {
                    "name": "Orthodenticle homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein OTX2 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein OTX2",
                    "type": "synonym"
                },
                {
                    "name": "orthodenticle homolog 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "OTX2",
                    "type": "recommended"
                },
                {
                    "name": "CPHD6",
                    "type": "synonym"
                },
                {
                    "name": "MCOPS5",
                    "type": "synonym"
                },
                {
                    "name": "OTX2",
                    "type": "synonym"
                }
            ],
            "record_id": "P32243-1",
            "evidence": [
                {
                    "id": "613986",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613986"
                },
                {
                    "id": "0061022",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061022"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64201-1",
            "uniprot_ac": "Q64201",
            "uniprot_id": "OTX2_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": "Homeobox protein OTX2",
                    "type": "recommended"
                },
                {
                    "name": "Orthodenticle homolog 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Otx2",
                    "type": "recommended"
                }
            ],
            "record_id": "Q64201-1",
            "evidence": [
                {
                    "id": "0061022",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061022"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22810-1",
            "uniprot_ac": "P22810",
            "uniprot_id": "HMOC_DROME",
            "refseq_ac": "NP_001014727",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeotic protein ocelliless",
                    "type": "recommended"
                },
                {
                    "name": "CG12154-PC",
                    "type": "synonym"
                },
                {
                    "name": "Protein orthodenticle",
                    "type": "synonym"
                },
                {
                    "name": "oc-PC",
                    "type": "synonym"
                },
                {
                    "name": "ocelliless, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "ocelliless",
                    "type": "synonym"
                },
                {
                    "name": "orthodentical",
                    "type": "synonym"
                },
                {
                    "name": "orthodenticle",
                    "type": "synonym"
                },
                {
                    "name": "uvi-insensitive",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "oc",
                    "type": "recommended"
                },
                {
                    "name": "CG12154",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12154",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12154",
                    "type": "synonym"
                },
                {
                    "name": "OC",
                    "type": "synonym"
                },
                {
                    "name": "Oc",
                    "type": "synonym"
                },
                {
                    "name": "Otd",
                    "type": "synonym"
                },
                {
                    "name": "Otx",
                    "type": "synonym"
                },
                {
                    "name": "l(1)7Ff",
                    "type": "synonym"
                },
                {
                    "name": "l(1)8Ac",
                    "type": "synonym"
                },
                {
                    "name": "oc2",
                    "type": "synonym"
                },
                {
                    "name": "oc",
                    "type": "synonym"
                },
                {
                    "name": "orthodenticle",
                    "type": "synonym"
                },
                {
                    "name": "ort",
                    "type": "synonym"
                },
                {
                    "name": "otd",
                    "type": "synonym"
                },
                {
                    "name": "uvi",
                    "type": "synonym"
                }
            ],
            "record_id": "P22810-1",
            "evidence": [
                {
                    "id": "0061022",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061022"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061022"
}