{
    "disease_id": "DOID:0111104",
    "recommended_name": {
        "id": "DOID:0111104",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111104",
        "name": "maturity-onset diabetes of the young type 6",
        "description": "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the NEUROD1 gene on chromosome 2q31."
    },
    "synonyms": [
        {
            "id": "DOID:0111104",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111104",
            "name": "MODY type 6",
            "description": ""
        },
        {
            "id": "DOID:0111104",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111104",
            "name": "MODY6",
            "description": ""
        },
        {
            "id": "MONDO:0011668",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011668",
            "name": "maturity-onset diabetes of the young type 6",
            "description": "Monogenic diabetes caused by inactivating mutation(s) in the gene NEUROD1, encoding neurogenic differentiation 1. In addition to diabetes, this condition may be associated with neurogenic anomalies. Homozygous NEUROD1 mutations result in permanent neonatal diabetes."
        },
        {
            "id": "MONDO:0011668",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011668",
            "name": "MODY6",
            "description": ""
        },
        {
            "id": "MONDO:0011668",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011668",
            "name": "NEUROD1 maturity-onset diabetes of the young (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0011668",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011668",
            "name": "NEUROD1-associated monogenic diabetes",
            "description": ""
        },
        {
            "id": "MONDO:0011668",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011668",
            "name": "maturity onset diabetes of the Young, type 6",
            "description": ""
        },
        {
            "id": "MONDO:0011668",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011668",
            "name": "maturity-onset diabetes of the young (disease) caused by mutation in NEUROD1",
            "description": ""
        },
        {
            "id": "MONDO:0011668",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011668",
            "name": "maturity-onset diabetes of the young 6",
            "description": ""
        },
        {
            "id": "MONDO:0011668",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011668",
            "name": "neurogenic differentiation Factor 1-associated monogenic diabetes",
            "description": ""
        },
        {
            "id": "MONDO:0011668",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011668",
            "name": "MODY NEUROD1 related",
            "description": ""
        },
        {
            "id": "MONDO:0011668",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011668",
            "name": "diabetes mellitus MODY type 6",
            "description": ""
        },
        {
            "id": "MONDO:0011668",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011668",
            "name": "maturity-onset diabetes of the young, type 6",
            "description": ""
        },
        {
            "id": "MONDO:0011668",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011668",
            "name": "type 6 maturity-onset diabetes of the young",
            "description": ""
        },
        {
            "id": "MIM:606394",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606394",
            "name": "Maturity-onset diabetes of the young 6",
            "description": "Maturity-onset diabetes of the young 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111104"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111104",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111104",
            "categories": []
        },
        {
            "id": "MONDO:0011668",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011668",
            "categories": []
        },
        {
            "id": "MIM:606394",
            "database": "MIM",
            "url": "https://www.omim.org/entry/606394",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O42202-1",
            "uniprot_ac": "O42202",
            "uniprot_id": "NDF1_DANRE",
            "refseq_ac": "NP_571053",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurogenic differentiation factor 1",
                    "type": "recommended"
                },
                {
                    "name": "Beta2/NeuroD",
                    "type": "synonym"
                },
                {
                    "name": "NeuroD1",
                    "type": "synonym"
                },
                {
                    "name": "NeuroD",
                    "type": "synonym"
                },
                {
                    "name": "etID309883.9",
                    "type": "synonym"
                },
                {
                    "name": "neurogenic differentiation factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "neurod1",
                    "type": "recommended"
                },
                {
                    "name": "NDF1",
                    "type": "synonym"
                },
                {
                    "name": "neuro-D",
                    "type": "synonym"
                },
                {
                    "name": "neurod1",
                    "type": "synonym"
                },
                {
                    "name": "neurod",
                    "type": "synonym"
                },
                {
                    "name": "nrd",
                    "type": "synonym"
                }
            ],
            "record_id": "O42202-1",
            "evidence": [
                {
                    "id": "0111104",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111104"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q60867-1",
            "uniprot_ac": "Q60867",
            "uniprot_id": "NDF1_MOUSE",
            "refseq_ac": "NP_035024",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurogenic differentiation factor 1",
                    "type": "recommended"
                },
                {
                    "name": "Beta-cell E-box transcriptional activator 2",
                    "type": "synonym"
                },
                {
                    "name": "Beta2",
                    "type": "synonym"
                },
                {
                    "name": "NeuroD1",
                    "type": "synonym"
                },
                {
                    "name": "beta-cell E-box transcriptional activator 2",
                    "type": "synonym"
                },
                {
                    "name": "neurogenic differentiation factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Neurod1",
                    "type": "recommended"
                },
                {
                    "name": "BETA2",
                    "type": "synonym"
                },
                {
                    "name": "BHF-1",
                    "type": "synonym"
                },
                {
                    "name": "Nd1",
                    "type": "synonym"
                },
                {
                    "name": "Neurod1",
                    "type": "synonym"
                },
                {
                    "name": "Neurod",
                    "type": "synonym"
                },
                {
                    "name": "bHLHa3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q60867-1",
            "evidence": [
                {
                    "id": "0111104",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111104"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13562-1",
            "uniprot_ac": "Q13562",
            "uniprot_id": "NDF1_HUMAN",
            "refseq_ac": "NP_002491",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurogenic differentiation factor 1",
                    "type": "recommended"
                },
                {
                    "name": "Class A basic helix-loop-helix protein 3",
                    "type": "synonym"
                },
                {
                    "name": "NeuroD1",
                    "type": "synonym"
                },
                {
                    "name": "NeuroD",
                    "type": "synonym"
                },
                {
                    "name": "bHLHa3",
                    "type": "synonym"
                },
                {
                    "name": "basic helix-loop-helix transcription factor",
                    "type": "synonym"
                },
                {
                    "name": "beta-cell E-box transactivator 2",
                    "type": "synonym"
                },
                {
                    "name": "class A basic helix-loop-helix protein 3",
                    "type": "synonym"
                },
                {
                    "name": "neurogenic differentiation factor 1",
                    "type": "synonym"
                },
                {
                    "name": "neurogenic helix-loop-helix protein NEUROD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NEUROD1",
                    "type": "recommended"
                },
                {
                    "name": "BETA2",
                    "type": "synonym"
                },
                {
                    "name": "BHF-1",
                    "type": "synonym"
                },
                {
                    "name": "BHLHA3",
                    "type": "synonym"
                },
                {
                    "name": "MODY6",
                    "type": "synonym"
                },
                {
                    "name": "NEUROD1",
                    "type": "synonym"
                },
                {
                    "name": "NEUROD",
                    "type": "synonym"
                },
                {
                    "name": "T2D",
                    "type": "synonym"
                },
                {
                    "name": "bHLHa3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13562-1",
            "evidence": [
                {
                    "id": "606394",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/606394"
                },
                {
                    "id": "0111104",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111104"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64289-1",
            "uniprot_ac": "Q64289",
            "uniprot_id": "NDF1_RAT",
            "refseq_ac": "NP_062091",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurogenic differentiation factor 1",
                    "type": "recommended"
                },
                {
                    "name": "BHF-1",
                    "type": "synonym"
                },
                {
                    "name": "Basic helix-loop-helix factor 1",
                    "type": "synonym"
                },
                {
                    "name": "NeuroD1",
                    "type": "synonym"
                },
                {
                    "name": "basic helix-loop-helix factor 1",
                    "type": "synonym"
                },
                {
                    "name": "neurogenic differentiation 1",
                    "type": "synonym"
                },
                {
                    "name": "neurogenic differentiation factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Neurod1",
                    "type": "recommended"
                },
                {
                    "name": "Neurod1",
                    "type": "synonym"
                },
                {
                    "name": "Neurod",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64289-1",
            "evidence": [
                {
                    "id": "0111104",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111104"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21453-1",
            "uniprot_ac": "P21453",
            "uniprot_id": "S1PR1_HUMAN",
            "refseq_ac": "NP_001307659",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sphingosine 1-phosphate receptor 1",
                    "type": "recommended"
                },
                {
                    "name": "Endothelial differentiation G protein-coupled receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "S1P receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "S1P receptor Edg-1",
                    "type": "synonym"
                },
                {
                    "name": "S1P1",
                    "type": "synonym"
                },
                {
                    "name": "Sphingosine 1-phosphate receptor Edg-1",
                    "type": "synonym"
                },
                {
                    "name": "endothelial differentiation G-protein coupled receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "endothelial differentiation, sphingolipid G-protein-coupled receptor, 1",
                    "type": "synonym"
                },
                {
                    "name": "sphingosine 1-phosphate receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "sphingosine 1-phosphate receptor EDG1",
                    "type": "synonym"
                },
                {
                    "name": "sphingosine 1-phosphate receptor Edg-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "S1PR1",
                    "type": "recommended"
                },
                {
                    "name": "CD363",
                    "type": "synonym"
                },
                {
                    "name": "CHEDG1",
                    "type": "synonym"
                },
                {
                    "name": "D1S3362",
                    "type": "synonym"
                },
                {
                    "name": "ECGF1",
                    "type": "synonym"
                },
                {
                    "name": "EDG-1",
                    "type": "synonym"
                },
                {
                    "name": "EDG1",
                    "type": "synonym"
                },
                {
                    "name": "S1P1",
                    "type": "synonym"
                },
                {
                    "name": "S1PR1",
                    "type": "synonym"
                }
            ],
            "record_id": "P21453-1",
            "evidence": [
                {
                    "id": "0111104",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111104"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111104"
}