{
    "disease_id": "DOID:0111105",
    "recommended_name": {
        "id": "DOID:0111105",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111105",
        "name": "maturity-onset diabetes of the young type 8",
        "description": "A maturity-onset diabetes of the young that has_material_basis_in frameshift deletions in the variable number of tandem repeats of the CEL gene om chromosome 9q34.13."
    },
    "synonyms": [
        {
            "id": "DOID:0111105",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111105",
            "name": "MODY type 8",
            "description": ""
        },
        {
            "id": "DOID:0111105",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111105",
            "name": "MODY8",
            "description": ""
        },
        {
            "id": "DOID:0111105",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111105",
            "name": "diabetes and pancreatic exocrine",
            "description": ""
        },
        {
            "id": "DOID:0111105",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111105",
            "name": "maturity-onset diabetes of the young type 8 with exocrine dysfunction",
            "description": ""
        },
        {
            "id": "MONDO:0012348",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012348",
            "name": "maturity-onset diabetes of the young type 8",
            "description": "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the CEL gene."
        },
        {
            "id": "MONDO:0012348",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012348",
            "name": "CEL maturity-onset diabetes of the young (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0012348",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012348",
            "name": "MODY8",
            "description": ""
        },
        {
            "id": "MONDO:0012348",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012348",
            "name": "maturity-onset diabetes of the young (disease) caused by mutation in CEL",
            "description": ""
        },
        {
            "id": "MONDO:0012348",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012348",
            "name": "maturity-onset diabetes of the young, type VIII",
            "description": ""
        },
        {
            "id": "MONDO:0012348",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012348",
            "name": "DPED",
            "description": ""
        },
        {
            "id": "MONDO:0012348",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012348",
            "name": "diabetes mellitus MODY type 8",
            "description": ""
        },
        {
            "id": "MONDO:0012348",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012348",
            "name": "maturity-onset diabetes of the young, type 8",
            "description": ""
        },
        {
            "id": "MONDO:0012348",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012348",
            "name": "maturity-onset diabetes of the young, type 8, with exocrine dysfunction",
            "description": ""
        },
        {
            "id": "MONDO:0012348",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012348",
            "name": "type 8 maturity-onset diabetes of the young",
            "description": ""
        },
        {
            "id": "MIM:609812",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609812",
            "name": "Maturity-onset diabetes of the young 8 with exocrine dysfunction",
            "description": "Maturity-onset diabetes of the young 8 with exocrine dysfunction"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111105"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111105",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111105",
            "categories": []
        },
        {
            "id": "MONDO:0012348",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012348",
            "categories": []
        },
        {
            "id": "MIM:609812",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609812",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1PFJ8-1",
            "uniprot_ac": "A0A8M1PFJ8",
            "uniprot_id": "A0A8M1PFJ8_DANRE",
            "refseq_ac": "NP_955901",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Carboxylic ester hydrolase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "carboxyl ester lipase, tandem duplicate 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cel.1",
                    "type": "recommended"
                },
                {
                    "name": "Cel",
                    "type": "synonym"
                },
                {
                    "name": "basal.1",
                    "type": "synonym"
                },
                {
                    "name": "cel.1",
                    "type": "synonym"
                },
                {
                    "name": "fb62e11",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb62e11",
                    "type": "synonym"
                },
                {
                    "name": "zgc:66457",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92042",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1PFJ8-1",
            "evidence": [
                {
                    "id": "0111105",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111105"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64285-1",
            "uniprot_ac": "Q64285",
            "uniprot_id": "CEL_MOUSE",
            "refseq_ac": "NP_034015",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bile salt-activated lipase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.13",
                    "type": "synonym"
                },
                {
                    "name": "3.1.1.3",
                    "type": "synonym"
                },
                {
                    "name": "3.1.1.6",
                    "type": "synonym"
                },
                {
                    "name": "BAL",
                    "type": "synonym"
                },
                {
                    "name": "BSSL",
                    "type": "synonym"
                },
                {
                    "name": "Bile salt-stimulated lipase",
                    "type": "synonym"
                },
                {
                    "name": "Carboxyl ester lipase",
                    "type": "synonym"
                },
                {
                    "name": "Cholesterol esterase",
                    "type": "synonym"
                },
                {
                    "name": "Pancreatic lysophospholipase",
                    "type": "synonym"
                },
                {
                    "name": "Sterol esterase",
                    "type": "synonym"
                },
                {
                    "name": "bile salt-activated lipase precursor",
                    "type": "synonym"
                },
                {
                    "name": "bile salt-activated lipase",
                    "type": "synonym"
                },
                {
                    "name": "bile salt-stimulated lipase",
                    "type": "synonym"
                },
                {
                    "name": "cholesterol esterase",
                    "type": "synonym"
                },
                {
                    "name": "pancreatic lysophospholipase",
                    "type": "synonym"
                },
                {
                    "name": "sterol esterase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cel",
                    "type": "recommended"
                },
                {
                    "name": "1810036E18Rik",
                    "type": "synonym"
                },
                {
                    "name": "BAL",
                    "type": "synonym"
                },
                {
                    "name": "BSSL",
                    "type": "synonym"
                },
                {
                    "name": "Cel",
                    "type": "synonym"
                },
                {
                    "name": "Lip1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64285-1",
            "evidence": [
                {
                    "id": "0111105",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111105"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P19835-1",
            "uniprot_ac": "P19835",
            "uniprot_id": "CEL_HUMAN",
            "refseq_ac": "NP_001798",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bile salt-activated lipase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.13",
                    "type": "synonym"
                },
                {
                    "name": "3.1.1.3",
                    "type": "synonym"
                },
                {
                    "name": "3.1.1.6",
                    "type": "synonym"
                },
                {
                    "name": "BAL",
                    "type": "synonym"
                },
                {
                    "name": "BSSL",
                    "type": "synonym"
                },
                {
                    "name": "Bile salt-stimulated lipase",
                    "type": "synonym"
                },
                {
                    "name": "Bucelipase",
                    "type": "synonym"
                },
                {
                    "name": "Carboxyl ester lipase",
                    "type": "synonym"
                },
                {
                    "name": "Cholesterol esterase",
                    "type": "synonym"
                },
                {
                    "name": "Pancreatic lysophospholipase",
                    "type": "synonym"
                },
                {
                    "name": "Sterol esterase",
                    "type": "synonym"
                },
                {
                    "name": "bile salt-activated lipase precursor",
                    "type": "synonym"
                },
                {
                    "name": "bile salt-activated lipase",
                    "type": "synonym"
                },
                {
                    "name": "bucelipase",
                    "type": "synonym"
                },
                {
                    "name": "carboxyl ester hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "carboxyl ester lipase (bile salt-stimulated lipase)",
                    "type": "synonym"
                },
                {
                    "name": "cholesterol esterase",
                    "type": "synonym"
                },
                {
                    "name": "fetoacinar pancreatic protein",
                    "type": "synonym"
                },
                {
                    "name": "lysophospholipase, pancreatic",
                    "type": "synonym"
                },
                {
                    "name": "sterol esterase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CEL",
                    "type": "recommended"
                },
                {
                    "name": "BAL",
                    "type": "synonym"
                },
                {
                    "name": "BSDL",
                    "type": "synonym"
                },
                {
                    "name": "BSSL",
                    "type": "synonym"
                },
                {
                    "name": "CELL",
                    "type": "synonym"
                },
                {
                    "name": "CEL",
                    "type": "synonym"
                },
                {
                    "name": "CEase",
                    "type": "synonym"
                },
                {
                    "name": "FAPP",
                    "type": "synonym"
                },
                {
                    "name": "FAP",
                    "type": "synonym"
                },
                {
                    "name": "MODY8",
                    "type": "synonym"
                }
            ],
            "record_id": "P19835-1",
            "evidence": [
                {
                    "id": "609812",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609812"
                },
                {
                    "id": "0111105",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111105"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07882-1",
            "uniprot_ac": "P07882",
            "uniprot_id": "CEL_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bile salt-activated lipase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.13",
                    "type": "synonym"
                },
                {
                    "name": "3.1.1.3",
                    "type": "synonym"
                },
                {
                    "name": "3.1.1.6",
                    "type": "synonym"
                },
                {
                    "name": "BAL",
                    "type": "synonym"
                },
                {
                    "name": "BSSL",
                    "type": "synonym"
                },
                {
                    "name": "Bile salt-stimulated lipase",
                    "type": "synonym"
                },
                {
                    "name": "Carboxyl ester lipase",
                    "type": "synonym"
                },
                {
                    "name": "Cholesterol esterase",
                    "type": "synonym"
                },
                {
                    "name": "Pancreatic lysophospholipase",
                    "type": "synonym"
                },
                {
                    "name": "Sterol esterase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cel",
                    "type": "recommended"
                }
            ],
            "record_id": "P07882-1",
            "evidence": [
                {
                    "id": "0111105",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111105"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111105"
}