{
    "disease_id": "DOID:0111107",
    "recommended_name": {
        "id": "DOID:0111107",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111107",
        "name": "maturity-onset diabetes of the young type 9",
        "description": "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the PAX4 gene on chromosome 7q32.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111107",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111107",
            "name": "MODY9",
            "description": ""
        },
        {
            "id": "MONDO:0012818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012818",
            "name": "maturity-onset diabetes of the young type 9",
            "description": "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the PAX4 gene."
        },
        {
            "id": "MONDO:0012818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012818",
            "name": "MODY9",
            "description": ""
        },
        {
            "id": "MONDO:0012818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012818",
            "name": "PAX4 maturity-onset diabetes of the young (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0012818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012818",
            "name": "maturity-onset diabetes of the young (disease) caused by mutation in PAX4",
            "description": ""
        },
        {
            "id": "MONDO:0012818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012818",
            "name": "maturity-onset diabetes of the young, type IX",
            "description": ""
        },
        {
            "id": "MONDO:0012818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012818",
            "name": "MODY PAX4 related",
            "description": ""
        },
        {
            "id": "MONDO:0012818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012818",
            "name": "MODY type 9",
            "description": ""
        },
        {
            "id": "MONDO:0012818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012818",
            "name": "diabetes mellitus MODY type 9",
            "description": ""
        },
        {
            "id": "MONDO:0012818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012818",
            "name": "maturity-onset diabetes of the young, type 9",
            "description": ""
        },
        {
            "id": "MONDO:0012818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012818",
            "name": "type 9 maturity-onset diabetes of the young",
            "description": ""
        },
        {
            "id": "MIM:612225",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612225",
            "name": "Maturity-onset diabetes of the young 9",
            "description": "Maturity-onset diabetes of the young 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111107"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111107",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111107",
            "categories": []
        },
        {
            "id": "MONDO:0012818",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012818",
            "categories": []
        },
        {
            "id": "MIM:612225",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612225",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P32115-1",
            "uniprot_ac": "P32115",
            "uniprot_id": "PAX4_MOUSE",
            "refseq_ac": "NP_001153397",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Paired box protein Pax-4",
                    "type": "recommended"
                },
                {
                    "name": "paired box gene 4",
                    "type": "synonym"
                },
                {
                    "name": "paired box protein Pax-4 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "paired box protein Pax-4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pax4",
                    "type": "recommended"
                },
                {
                    "name": "Pax-4",
                    "type": "synonym"
                },
                {
                    "name": "Pax4",
                    "type": "synonym"
                }
            ],
            "record_id": "P32115-1",
            "evidence": [
                {
                    "id": "0111107",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111107"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43316-1",
            "uniprot_ac": "O43316",
            "uniprot_id": "PAX4_HUMAN",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Paired box protein Pax-4",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "PAX4",
                    "type": "recommended"
                }
            ],
            "record_id": "O43316-1",
            "evidence": [
                {
                    "id": "612225",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612225"
                },
                {
                    "id": "0111107",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111107"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88436-1",
            "uniprot_ac": "O88436",
            "uniprot_id": "PAX4_RAT",
            "refseq_ac": "NP_113987",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Paired box protein Pax-4",
                    "type": "recommended"
                },
                {
                    "name": "paired box gene 4",
                    "type": "synonym"
                },
                {
                    "name": "paired box protein Pax-4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pax4",
                    "type": "recommended"
                },
                {
                    "name": "Pax4",
                    "type": "synonym"
                }
            ],
            "record_id": "O88436-1",
            "evidence": [
                {
                    "id": "0111107",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111107"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O18381-1",
            "uniprot_ac": "O18381",
            "uniprot_id": "PAX6_DROME",
            "refseq_ac": "NP_524628",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Paired box protein Pax-6",
                    "type": "recommended"
                },
                {
                    "name": "CG1464-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein eyeless",
                    "type": "synonym"
                },
                {
                    "name": "ey-PA",
                    "type": "synonym"
                },
                {
                    "name": "eyeless, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "eyeless",
                    "type": "synonym"
                },
                {
                    "name": "tumor-head-63",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ey",
                    "type": "recommended"
                },
                {
                    "name": "CG1464",
                    "type": "synonym"
                },
                {
                    "name": "DPax-6",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1464",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1464",
                    "type": "synonym"
                },
                {
                    "name": "EYEL",
                    "type": "synonym"
                },
                {
                    "name": "EY",
                    "type": "synonym"
                },
                {
                    "name": "Ey/Pax6",
                    "type": "synonym"
                },
                {
                    "name": "Ey",
                    "type": "synonym"
                },
                {
                    "name": "OK107",
                    "type": "synonym"
                },
                {
                    "name": "Pax-6",
                    "type": "synonym"
                },
                {
                    "name": "Pax6/ey",
                    "type": "synonym"
                },
                {
                    "name": "Pax6",
                    "type": "synonym"
                },
                {
                    "name": "eye",
                    "type": "synonym"
                },
                {
                    "name": "ey",
                    "type": "synonym"
                },
                {
                    "name": "l(4)102CDh",
                    "type": "synonym"
                },
                {
                    "name": "l(4)102CDr",
                    "type": "synonym"
                },
                {
                    "name": "l(4)33",
                    "type": "synonym"
                },
                {
                    "name": "pax6",
                    "type": "synonym"
                }
            ],
            "record_id": "O18381-1",
            "evidence": [
                {
                    "id": "0111107",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111107"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111107"
}