{
    "disease_id": "DOID:0111624",
    "recommended_name": {
        "id": "DOID:0111624",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111624",
        "name": "ACTH-independent macronodular adrenal hyperplasia 2",
        "description": "An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in a combination of autosomal dominant and second hit somatic mutation in the ARMC5 gene on chromosome 16p11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111624",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111624",
            "name": "AIMAH2",
            "description": ""
        },
        {
            "id": "MONDO:0014416",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014416",
            "name": "ACTH-independent macronodular adrenal hyperplasia 2",
            "description": "Any Cushing syndrome due to macronodular adrenal hyperplasia in which the cause of the disease is a mutation in the ARMC5 gene."
        },
        {
            "id": "MONDO:0014416",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014416",
            "name": "ACTH-independent macronodular adrenal hyperplasia 2",
            "description": ""
        },
        {
            "id": "MONDO:0014416",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014416",
            "name": "ACTH-independent macronodular adrenal hyperplasia 2, autosomal dominant, somatic mutation",
            "description": ""
        },
        {
            "id": "MONDO:0014416",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014416",
            "name": "ACTH-independent macronodular adrenal hyperplasia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0014416",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014416",
            "name": "AIMAH2",
            "description": ""
        },
        {
            "id": "MONDO:0014416",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014416",
            "name": "ARMC5 Cushing syndrome due to macronodular adrenal hyperplasia",
            "description": ""
        },
        {
            "id": "MONDO:0014416",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014416",
            "name": "Cushing syndrome due to macronodular adrenal hyperplasia caused by mutation in ARMC5",
            "description": ""
        },
        {
            "id": "MONDO:0014416",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014416",
            "name": "primary macronodular adrenal hyperplasia",
            "description": ""
        },
        {
            "id": "MIM:615954",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615954",
            "name": "ACTH-independent macronodular adrenal hyperplasia 2",
            "description": "ACTH-independent macronodular adrenal hyperplasia 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111624"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111624",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111624",
            "categories": []
        },
        {
            "id": "MONDO:0014416",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014416",
            "categories": []
        },
        {
            "id": "MIM:615954",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615954",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8N7T8J6-1",
            "uniprot_ac": "A0A8N7T8J6",
            "uniprot_id": "A0A8N7T8J6_DANRE",
            "refseq_ac": "XP_698416",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Armadillo repeat-containing protein 5",
                    "type": "synonym"
                },
                {
                    "name": "armadillo repeat-containing protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "armc5",
                    "type": "recommended"
                },
                {
                    "name": "armc5",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N7T8J6-1",
            "evidence": [
                {
                    "id": "0111624",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111624"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5EBP3-1",
            "uniprot_ac": "Q5EBP3",
            "uniprot_id": "ARMC5_MOUSE",
            "refseq_ac": "NP_666317",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Armadillo repeat-containing protein 5",
                    "type": "recommended"
                },
                {
                    "name": "armadillo repeat-containing protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Armc5",
                    "type": "recommended"
                },
                {
                    "name": "Armc5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5EBP3-1",
            "evidence": [
                {
                    "id": "0111624",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111624"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96C12-1",
            "uniprot_ac": "Q96C12",
            "uniprot_id": "ARMC5_HUMAN",
            "refseq_ac": "NP_001098717",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Armadillo repeat-containing protein 5",
                    "type": "recommended"
                },
                {
                    "name": "armadillo repeat-containing protein 5 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "armadillo repeat-containing protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ARMC5",
                    "type": "recommended"
                },
                {
                    "name": "AIMAH2",
                    "type": "synonym"
                },
                {
                    "name": "ARMC5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96C12-1",
            "evidence": [
                {
                    "id": "615954",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615954"
                },
                {
                    "id": "0111624",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111624"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5PQP9-1",
            "uniprot_ac": "Q5PQP9",
            "uniprot_id": "ARMC5_RAT",
            "refseq_ac": "NP_001009455",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Armadillo repeat-containing protein 5",
                    "type": "recommended"
                },
                {
                    "name": "armadillo repeat-containing protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Armc5",
                    "type": "recommended"
                },
                {
                    "name": "Armc5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5PQP9-1",
            "evidence": [
                {
                    "id": "0111624",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111624"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VAH2-1",
            "uniprot_ac": "Q9VAH2",
            "uniprot_id": "Q9VAH2_DROME",
            "refseq_ac": "NP_651726",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG7837-PA",
                    "type": "synonym"
                },
                {
                    "name": "R and B",
                    "type": "synonym"
                },
                {
                    "name": "Rnb-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rnb",
                    "type": "recommended"
                },
                {
                    "name": "CG7837",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7837",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7837",
                    "type": "synonym"
                },
                {
                    "name": "Rnb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VAH2-1",
            "evidence": [
                {
                    "id": "0111624",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111624"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111624"
}