{
    "disease_id": "DOID:0080945",
    "recommended_name": {
        "id": "DOID:0080945",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080945",
        "name": "abdominal obesity-metabolic syndrome 4",
        "description": "An abdominal obesity-metabolic syndrome that is characterized by obesity, hypertension, and early-onset coronary artery disease and that has_material_basis_in heterozygous mutation in the CELA2A gene on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "MONDO:0032837",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032837",
            "name": "abdominal obesity-metabolic syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0032837",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032837",
            "name": "ABDOMINAL OBESITY-METABOLIC SYNDROME 4",
            "description": ""
        },
        {
            "id": "MONDO:0032837",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032837",
            "name": "AOMS4",
            "description": ""
        },
        {
            "id": "MIM:618620",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618620",
            "name": "Abdominal obesity-metabolic syndrome 4",
            "description": "Abdominal obesity-metabolic syndrome 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080945"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080945",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080945",
            "categories": []
        },
        {
            "id": "MONDO:0032837",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032837",
            "categories": []
        },
        {
            "id": "MIM:618620",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618620",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P05208-1",
            "uniprot_ac": "P05208",
            "uniprot_id": "CEL2A_MOUSE",
            "refseq_ac": "NP_031945",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chymotrypsin-like elastase family member 2A",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.71",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Elastase-2A",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Elastase-2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "chymotrypsin-like elastase family member 2A preproprotein",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "elastase 2A",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cela2a",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Cela2a",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Ela-2; Ela2; Ela2a",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Ela-2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Ela2a",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Ela2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0080945",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080945"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60494-1",
            "uniprot_ac": "O60494",
            "uniprot_id": "CUBN_HUMAN",
            "refseq_ac": "NP_001072",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cubilin",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "460 kDa receptor",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Intestinal intrinsic factor receptor",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Intrinsic factor-cobalamin receptor",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Intrinsic factor-vitamin B12 receptor",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "cubilin (intrinsic factor-cobalamin receptor); intrinsic factor-vitamin B12 receptor; 460 kDa receptor; intestinal intrinsic factor receptor",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "cubilin precursor",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CUBN",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CUBN",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "IFCR",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "gp280; IFCR; IGS; IGS1; MGA1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0080945",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080945"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08217-1",
            "uniprot_ac": "P08217",
            "uniprot_id": "CEL2A_HUMAN",
            "refseq_ac": "NP_254275",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chymotrypsin-like elastase family member 2A",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.71",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Elastase-2A",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "chymotrypsin-like elastase family member 2A preproprotein",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "pancreatic elastase 2; elastase 2A; pancreatic elastase IIA; chymotrypsin like elastase family member 2A",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CELA2A",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "AOMS4; ELA2A; PE-1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CELA2A",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "ELA2A",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0080945",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080945"
                },
                {
                    "id": "618620",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618620"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7SZ51-1",
            "uniprot_ac": "Q7SZ51",
            "uniprot_id": "Q7SZ51_DANRE",
            "refseq_ac": "NP_956180",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "pancreatic elastase II",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.71",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "chymotrypsin C; caldecrin; elastase B",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "elastase 2 like precursor",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ela2l",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "ctrc; elastaseB; fi40a05; wu:fi40a05; zgc:111871; zgc:63744",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "ctrc",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "ela2l",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "elastaseB",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "fi40a05",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi40a05",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "zgc:111871",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63744",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0080945",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080945"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P00774-1",
            "uniprot_ac": "P00774",
            "uniprot_id": "CEL2A_RAT",
            "refseq_ac": "NP_036685",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chymotrypsin-like elastase family member 2A",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.71",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Elastase-2A",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Elastase-2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "chymotrypsin-like elastase family member 2A precursor",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "elastase-2; elastase-2A; Elastase 2, pancreatic; chymotrypsin-like elastase family, member 2A",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cela2a",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Cela2a",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Ela2; Ela2a; ELAII; Elaii1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Ela2a",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Ela2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0080945",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080945"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080945"
}