{
    "disease_id": "DOID:0050546",
    "recommended_name": {
        "id": "DOID:0050546",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050546",
        "name": "congenital adrenal insufficiency",
        "description": "An adrenal gland disease that is characterized by cortisol deficiency, hypoaldosteronism and excessive or insufficient sex hormones, has_material_basis_in the mutation in the gene for 21-hydroxylase, 11beta-hydroxylase, 3beta-hydroxysteroid, 17alpha-hydroxylase or 20,22-desmolase."
    },
    "synonyms": [
        {
            "id": "DOID:0050546",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050546",
            "name": "P450scc DEFICIENCY",
            "description": ""
        },
        {
            "id": "DOID:0050546",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050546",
            "name": "ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE",
            "description": ""
        },
        {
            "id": "DOID:0050546",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050546",
            "name": "Adrenal insufficiency, congenital, with 46,XY sex reversal",
            "description": ""
        },
        {
            "id": "MONDO:0013400",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013400",
            "name": "Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency",
            "description": "A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the <i>CYP11A1</i> gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels."
        },
        {
            "id": "MONDO:0013400",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013400",
            "name": "XY sex reversal-adrenal failure",
            "description": ""
        },
        {
            "id": "MONDO:0013400",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013400",
            "name": "XY sex reversal-adrenal failure syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013400",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013400",
            "name": "adrenal insufficiency, congenital, with 46,XY SEX reversal, partial or complete",
            "description": ""
        },
        {
            "id": "MONDO:0013400",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013400",
            "name": "adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete",
            "description": ""
        },
        {
            "id": "MONDO:0013400",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013400",
            "name": "cholesterol side-chain cleavage deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013400",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013400",
            "name": "p450scc deficiency",
            "description": ""
        },
        {
            "id": "MIM:613743",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613743",
            "name": "Adrenal insufficiency, congenital, with 46,XY sex reversal",
            "description": "Adrenal insufficiency, congenital, with 46,XY sex reversal"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050546"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050546",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050546",
            "categories": []
        },
        {
            "id": "MONDO:0013400",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013400",
            "categories": []
        },
        {
            "id": "MIM:613743",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613743",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9Q8E0-1",
            "uniprot_ac": "A0A8M9Q8E0",
            "uniprot_id": "A0A8M9Q8E0_DANRE",
            "refseq_ac": "XP_691817",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cholesterol side-chain cleavage enzyme, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.14.15.6",
                    "type": "synonym"
                },
                {
                    "name": "Cholesterol desmolase",
                    "type": "synonym"
                },
                {
                    "name": "cholesterol side-chain cleavage enzyme, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cyp11a1.2",
                    "type": "recommended"
                },
                {
                    "name": "cyp11a1.2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9Q8E0-1",
            "evidence": [
                {
                    "id": "0050546",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050546"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QZ82-1",
            "uniprot_ac": "Q9QZ82",
            "uniprot_id": "CP11A_MOUSE",
            "refseq_ac": "NP_062753",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cholesterol side-chain cleavage enzyme, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.14.15.6",
                    "type": "synonym"
                },
                {
                    "name": "CYPXIA1",
                    "type": "synonym"
                },
                {
                    "name": "Cholesterol desmolase",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450 11A1",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450(scc)",
                    "type": "synonym"
                },
                {
                    "name": "cholesterol desmolase",
                    "type": "synonym"
                },
                {
                    "name": "cholesterol side-chain cleavage enzyme, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "cholesterol side-chain cleavage enzyme, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 11A1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 side-chain cleavage enzyme",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450(scc)",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, 11a, cholesterol side-chain cleavage",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cyp11a1",
                    "type": "recommended"
                },
                {
                    "name": "Cyp11a1",
                    "type": "synonym"
                },
                {
                    "name": "Cyp11a",
                    "type": "synonym"
                },
                {
                    "name": "Cypxia1",
                    "type": "synonym"
                },
                {
                    "name": "D9Ertd411e",
                    "type": "synonym"
                },
                {
                    "name": "P450scc",
                    "type": "synonym"
                },
                {
                    "name": "Scc",
                    "type": "synonym"
                },
                {
                    "name": "cscc",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QZ82-1",
            "evidence": [
                {
                    "id": "0050546",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050546"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P05108-1",
            "uniprot_ac": "P05108",
            "uniprot_id": "CP11A_HUMAN",
            "refseq_ac": "NP_000772",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cholesterol side-chain cleavage enzyme, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.14.15.6",
                    "type": "synonym"
                },
                {
                    "name": "CYPXIA1",
                    "type": "synonym"
                },
                {
                    "name": "Cholesterol desmolase",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450 11A1",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450(scc)",
                    "type": "synonym"
                },
                {
                    "name": "cholesterol 20-22 desmolase",
                    "type": "synonym"
                },
                {
                    "name": "cholesterol monooxygenase (side-chain cleaving)",
                    "type": "synonym"
                },
                {
                    "name": "cholesterol side-chain cleavage enzyme, mitochondrial isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "cholesterol side-chain cleavage enzyme, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 11A1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 family 11 subfamily A polypeptide 1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450(scc)",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, subfamily XIA (cholesterol side chain cleavage)",
                    "type": "synonym"
                },
                {
                    "name": "steroid 20-22-lyase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CYP11A1",
                    "type": "recommended"
                },
                {
                    "name": "CYP11A1",
                    "type": "synonym"
                },
                {
                    "name": "CYP11A",
                    "type": "synonym"
                },
                {
                    "name": "CYPXIA1",
                    "type": "synonym"
                },
                {
                    "name": "P450SCC",
                    "type": "synonym"
                }
            ],
            "record_id": "P05108-1",
            "evidence": [
                {
                    "id": "613743",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613743"
                },
                {
                    "id": "0050546",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050546"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P14137-1",
            "uniprot_ac": "P14137",
            "uniprot_id": "CP11A_RAT",
            "refseq_ac": "NP_058982",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cholesterol side-chain cleavage enzyme, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.14.15.6",
                    "type": "synonym"
                },
                {
                    "name": "CYPXIA1",
                    "type": "synonym"
                },
                {
                    "name": "Cholesterol desmolase",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450 11A1",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450(scc)",
                    "type": "synonym"
                },
                {
                    "name": "cholesterol desmolase",
                    "type": "synonym"
                },
                {
                    "name": "cholesterol side-chain cleavage cytochrome P450",
                    "type": "synonym"
                },
                {
                    "name": "cholesterol side-chain cleavage enzyme, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "cholesterol side-chain cleavage enzyme, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 11A1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 11a cholesterol side chain cleavage",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 family 11 subfamily a",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 side-chain cleavage enzyme",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 subfamily 11A",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450(scc)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cyp11a1",
                    "type": "recommended"
                },
                {
                    "name": "Cyp11a-1",
                    "type": "synonym"
                },
                {
                    "name": "Cyp11a1",
                    "type": "synonym"
                },
                {
                    "name": "Cyp11a",
                    "type": "synonym"
                },
                {
                    "name": "Cypxia1",
                    "type": "synonym"
                },
                {
                    "name": "P450(scc)",
                    "type": "synonym"
                },
                {
                    "name": "P450scc",
                    "type": "synonym"
                }
            ],
            "record_id": "P14137-1",
            "evidence": [
                {
                    "id": "0050546",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050546"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02692-1",
            "uniprot_ac": "P02692",
            "uniprot_id": "FABPL_RAT",
            "refseq_ac": "NP_036688",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fatty acid-binding protein, liver",
                    "type": "recommended"
                },
                {
                    "name": "Fatty acid-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "L-FABP",
                    "type": "synonym"
                },
                {
                    "name": "Liver-type fatty acid-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "SCP",
                    "type": "synonym"
                },
                {
                    "name": "Squalene- and sterol-carrier protein",
                    "type": "synonym"
                },
                {
                    "name": "Z-protein",
                    "type": "synonym"
                },
                {
                    "name": "fatty acid binding protein 1, liver",
                    "type": "synonym"
                },
                {
                    "name": "fatty acid-binding protein, liver",
                    "type": "synonym"
                },
                {
                    "name": "liver-type fatty acid-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "p14",
                    "type": "synonym"
                },
                {
                    "name": "squalene- and sterol-carrier protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fabp1",
                    "type": "recommended"
                },
                {
                    "name": "Fabp1",
                    "type": "synonym"
                },
                {
                    "name": "Fabplg",
                    "type": "synonym"
                },
                {
                    "name": "L-FABP",
                    "type": "synonym"
                },
                {
                    "name": "SCP.",
                    "type": "synonym"
                },
                {
                    "name": "SCP",
                    "type": "synonym"
                },
                {
                    "name": "p14",
                    "type": "synonym"
                }
            ],
            "record_id": "P02692-1",
            "evidence": [
                {
                    "id": "0050546",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050546"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050546"
}