{
    "disease_id": "DOID:0080626",
    "recommended_name": {
        "id": "DOID:0080626",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080626",
        "name": "corticosterone methyloxidase deficiency 1",
        "description": "An adrenal gland disease that is characterized by excessive amounts of sodium released in the urine, along with insufficient release of potassium in the urine, usually beginning in the first few weeks of life."
    },
    "synonyms": [
        {
            "id": "DOID:0080626",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080626",
            "name": "aldosterone synthase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008751",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008751",
            "name": "corticosterone methyloxidase type 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008751",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008751",
            "name": "corticosterone 18-monooxygenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008751",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008751",
            "name": "corticosterone methyloxidase type 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008751",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008751",
            "name": "hypoaldosteronism, congenital, due to cmo i deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008751",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008751",
            "name": "18 Hydroxylase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008751",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008751",
            "name": "18 alpha hydroxylase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008751",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008751",
            "name": "CMO 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008751",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008751",
            "name": "aldosterone deficiency 1",
            "description": ""
        },
        {
            "id": "MONDO:0008751",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008751",
            "name": "aldosterone deficiency due to defect in 18 hydroxylase",
            "description": ""
        },
        {
            "id": "MIM:203400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/203400",
            "name": "Corticosterone methyloxidase 1 deficiency",
            "description": "Corticosterone methyloxidase 1 deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080626"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080626",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080626",
            "categories": []
        },
        {
            "id": "MONDO:0008751",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008751",
            "categories": []
        },
        {
            "id": "MIM:203400",
            "database": "MIM",
            "url": "https://www.omim.org/entry/203400",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P15539-1",
            "uniprot_ac": "P15539",
            "uniprot_id": "C11B2_MOUSE",
            "refseq_ac": "NP_034121",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome P450 11B2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.14.15.4",
                    "type": "synonym"
                },
                {
                    "name": "1.14.15.5",
                    "type": "synonym"
                },
                {
                    "name": "ALDOS",
                    "type": "synonym"
                },
                {
                    "name": "Aldosterone synthase",
                    "type": "synonym"
                },
                {
                    "name": "Aldosterone-synthesizing enzyme",
                    "type": "synonym"
                },
                {
                    "name": "CYPXIB2",
                    "type": "synonym"
                },
                {
                    "name": "Corticosterone 18-monooxygenase, CYP11B2",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P-450Aldo",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P-450C18",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450C11",
                    "type": "synonym"
                },
                {
                    "name": "Steroid 11-beta-hydroxylase, CYP11B2",
                    "type": "synonym"
                },
                {
                    "name": "Steroid 18-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "aldosterone synthase",
                    "type": "synonym"
                },
                {
                    "name": "aldosterone-synthesizing enzyme",
                    "type": "synonym"
                },
                {
                    "name": "corticosterone 18-monooxygenase, CYP11B2",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P-450Aldo",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P-450C18",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 11B2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450C11",
                    "type": "synonym"
                },
                {
                    "name": "steroid 11-beta-hydroxylase, CYP11B2",
                    "type": "synonym"
                },
                {
                    "name": "steroid 18-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "steroid-11-beta-hydroxylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cyp11b2",
                    "type": "recommended"
                },
                {
                    "name": "ALDOS",
                    "type": "synonym"
                },
                {
                    "name": "Cpn2",
                    "type": "synonym"
                },
                {
                    "name": "Cyp11b-2",
                    "type": "synonym"
                },
                {
                    "name": "Cyp11b2",
                    "type": "synonym"
                },
                {
                    "name": "Cyp11b",
                    "type": "synonym"
                }
            ],
            "record_id": "P15539-1",
            "evidence": [
                {
                    "id": "0080626",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080626"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P19099-1",
            "uniprot_ac": "P19099",
            "uniprot_id": "C11B2_HUMAN",
            "refseq_ac": "NP_000489",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome P450 11B2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.14.15.4",
                    "type": "synonym"
                },
                {
                    "name": "1.14.15.5",
                    "type": "synonym"
                },
                {
                    "name": "ALDOS",
                    "type": "synonym"
                },
                {
                    "name": "Aldosterone synthase",
                    "type": "synonym"
                },
                {
                    "name": "Aldosterone-synthesizing enzyme",
                    "type": "synonym"
                },
                {
                    "name": "CYPXIB2",
                    "type": "synonym"
                },
                {
                    "name": "Corticosterone 18-monooxygenase, CYP11B2",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P-450Aldo",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P-450C18",
                    "type": "synonym"
                },
                {
                    "name": "Steroid 11-beta-hydroxylase, CYP11B2",
                    "type": "synonym"
                },
                {
                    "name": "Steroid 18-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "aldosterone synthase",
                    "type": "synonym"
                },
                {
                    "name": "aldosterone-synthesizing enzyme",
                    "type": "synonym"
                },
                {
                    "name": "corticosterone 18-monooxygenase, CYP11B2",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P-450Aldo",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P-450C18",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 11B2, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 11B2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial cytochrome P450, family 11, subfamily B, polypeptide 2",
                    "type": "synonym"
                },
                {
                    "name": "steroid 11-beta-hydroxylase, CYP11B2",
                    "type": "synonym"
                },
                {
                    "name": "steroid 11-beta-monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "steroid 11-beta/18-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "steroid 18-hydroxylase, aldosterone synthase, P450C18, P450aldo",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CYP11B2",
                    "type": "recommended"
                },
                {
                    "name": "ALDOS",
                    "type": "synonym"
                },
                {
                    "name": "CPN2",
                    "type": "synonym"
                },
                {
                    "name": "CYP11B2",
                    "type": "synonym"
                },
                {
                    "name": "CYP11BL",
                    "type": "synonym"
                },
                {
                    "name": "CYP11B",
                    "type": "synonym"
                },
                {
                    "name": "CYPXIB2",
                    "type": "synonym"
                },
                {
                    "name": "P-450C18",
                    "type": "synonym"
                },
                {
                    "name": "P450C18",
                    "type": "synonym"
                },
                {
                    "name": "P450aldo",
                    "type": "synonym"
                }
            ],
            "record_id": "P19099-1",
            "evidence": [
                {
                    "id": "203400",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/203400"
                },
                {
                    "id": "0080626",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080626"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P30100-1",
            "uniprot_ac": "P30100",
            "uniprot_id": "C11B3_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": "Cytochrome P450 11B3, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.14.15.4",
                    "type": "synonym"
                },
                {
                    "name": "CYP11B3",
                    "type": "synonym"
                },
                {
                    "name": "CYPXIB3",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P-450 11B3",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450-Aldo-2",
                    "type": "synonym"
                },
                {
                    "name": "Steroid 11-beta-hydroxylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cyp11b3",
                    "type": "recommended"
                },
                {
                    "name": "Cyp11b-3",
                    "type": "synonym"
                }
            ],
            "record_id": "P30100-1",
            "evidence": [
                {
                    "id": "0080626",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080626"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P80020-1",
            "uniprot_ac": "P80020",
            "uniprot_id": "FABP6_RAT",
            "refseq_ac": "NP_058794",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gastrotropin",
                    "type": "recommended"
                },
                {
                    "name": "14 kDa bile acid-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Fatty acid binding protein 6 (bile acid-binding protein)",
                    "type": "synonym"
                },
                {
                    "name": "Fatty acid-binding protein 6",
                    "type": "synonym"
                },
                {
                    "name": "GT",
                    "type": "synonym"
                },
                {
                    "name": "I-15P",
                    "type": "synonym"
                },
                {
                    "name": "I-BABP",
                    "type": "synonym"
                },
                {
                    "name": "ILBP",
                    "type": "synonym"
                },
                {
                    "name": "Ileal lipid-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Intestinal 15 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "fatty acid binding protein 6, ileal",
                    "type": "synonym"
                },
                {
                    "name": "gastrotropin",
                    "type": "synonym"
                },
                {
                    "name": "ileal lipid-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "intestinal 15 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "strain SHR/OlaIpcv fatty acid binding protein 6 (Fabp6) pseudogene",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fabp6",
                    "type": "recommended"
                },
                {
                    "name": "Fabp6",
                    "type": "synonym"
                },
                {
                    "name": "IBABP",
                    "type": "synonym"
                },
                {
                    "name": "Ilbp",
                    "type": "synonym"
                },
                {
                    "name": "Illbp",
                    "type": "synonym"
                }
            ],
            "record_id": "P80020-1",
            "evidence": [
                {
                    "id": "0080626",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080626"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080626"
}