{
    "disease_id": "DOID:0111111",
    "recommended_name": {
        "id": "DOID:0111111",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111111",
        "name": "maturity-onset diabetes of the young type 14",
        "description": "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the APPL1 gene on chromosome 3p14."
    },
    "synonyms": [
        {
            "id": "DOID:0111111",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111111",
            "name": "MODY14",
            "description": ""
        },
        {
            "id": "MONDO:0014674",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014674",
            "name": "maturity-onset diabetes of the young type 14",
            "description": "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the APPL1 gene."
        },
        {
            "id": "MONDO:0014674",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014674",
            "name": "APPL1 maturity-onset diabetes of the young (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0014674",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014674",
            "name": "MODY14",
            "description": ""
        },
        {
            "id": "MONDO:0014674",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014674",
            "name": "maturity-onset diabetes of the young (disease) caused by mutation in APPL1",
            "description": ""
        },
        {
            "id": "MONDO:0014674",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014674",
            "name": "maturity-onset diabetes of the young, type 14",
            "description": ""
        },
        {
            "id": "MIM:616511",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616511",
            "name": "Maturity-onset diabetes of the young 14",
            "description": "Maturity-onset diabetes of the young 14"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111111"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111111",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111111",
            "categories": []
        },
        {
            "id": "MONDO:0014674",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014674",
            "categories": []
        },
        {
            "id": "MIM:616511",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616511",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PV15-1",
            "uniprot_ac": "A0A8M9PV15",
            "uniprot_id": "A0A8M9PV15_DANRE",
            "refseq_ac": "XP_021335332",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "DCC-interacting protein 13-alpha",
                    "type": "recommended"
                },
                {
                    "name": "Adapter protein containing PH domain, PTB domain and leucine zipper motif 1",
                    "type": "synonym"
                },
                {
                    "name": "DCC-interacting protein 13-alpha isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "appl1",
                    "type": "recommended"
                },
                {
                    "name": "appl1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PV15-1",
            "evidence": [
                {
                    "id": "0111111",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111111"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K3H0-1",
            "uniprot_ac": "Q8K3H0",
            "uniprot_id": "DP13A_MOUSE",
            "refseq_ac": "NP_660256",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DCC-interacting protein 13-alpha",
                    "type": "recommended"
                },
                {
                    "name": "Adapter protein containing PH domain, PTB domain and leucine zipper motif 1",
                    "type": "synonym"
                },
                {
                    "name": "DCC-interacting protein 13-alpha",
                    "type": "synonym"
                },
                {
                    "name": "DIP13 alpha",
                    "type": "synonym"
                },
                {
                    "name": "Dip13-alpha",
                    "type": "synonym"
                },
                {
                    "name": "adapter protein containing PH domain, PTB domain and leucine zipper motif 1",
                    "type": "synonym"
                },
                {
                    "name": "adaptor protein APPL like",
                    "type": "synonym"
                },
                {
                    "name": "dip13-alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Appl1",
                    "type": "recommended"
                },
                {
                    "name": "2900057D21Rik",
                    "type": "synonym"
                },
                {
                    "name": "7330406P05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Appl1",
                    "type": "synonym"
                },
                {
                    "name": "DIP13",
                    "type": "synonym"
                },
                {
                    "name": "Dip13a",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1428",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K3H0-1",
            "evidence": [
                {
                    "id": "0111111",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111111"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UKG1-1",
            "uniprot_ac": "Q9UKG1",
            "uniprot_id": "DP13A_HUMAN",
            "refseq_ac": "NP_036228",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DCC-interacting protein 13-alpha",
                    "type": "recommended"
                },
                {
                    "name": "AKT2 interactor",
                    "type": "synonym"
                },
                {
                    "name": "Adapter protein containing PH domain, PTB domain and leucine zipper motif 1",
                    "type": "synonym"
                },
                {
                    "name": "DCC-interacting protein 13-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Dip13-alpha",
                    "type": "synonym"
                },
                {
                    "name": "adapter protein containing PH domain, PTB domain and leucine zipper motif 1",
                    "type": "synonym"
                },
                {
                    "name": "adaptor protein containing pH domain, PTB domain and leucine zipper motif 1",
                    "type": "synonym"
                },
                {
                    "name": "adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1",
                    "type": "synonym"
                },
                {
                    "name": "dip13-alpha",
                    "type": "synonym"
                },
                {
                    "name": "signaling adaptor protein DIP13alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "APPL1",
                    "type": "recommended"
                },
                {
                    "name": "APPL1",
                    "type": "synonym"
                },
                {
                    "name": "APPL",
                    "type": "synonym"
                },
                {
                    "name": "DIP13A",
                    "type": "synonym"
                },
                {
                    "name": "DIP13alpha",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1428",
                    "type": "synonym"
                },
                {
                    "name": "MODY14",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UKG1-1",
            "evidence": [
                {
                    "id": "616511",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616511"
                },
                {
                    "id": "0111111",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111111"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZWA8-1",
            "uniprot_ac": "D3ZWA8",
            "uniprot_id": "D3ZWA8_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": "DCC-interacting protein 13-alpha",
                    "type": "recommended"
                },
                {
                    "name": "Adapter protein containing PH domain, PTB domain and leucine zipper motif 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Appl1",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZWA8-1",
            "evidence": [
                {
                    "id": "0111111",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111111"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111111"
}