{
  "id": 15418,
  "label": "ACTH-independent macronodular adrenal hyperplasia 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014416",
  "properties": {
    "xrefs": [
      "DOID:0111624",
      "GARD:0016034",
      "MEDGEN:863240",
      "OMIM:615954",
      "UMLS:C4014803"
    ],
    "synonyms": [
      "ACTH-independent macronodular adrenal hyperplasia 2",
      "ACTH-independent macronodular adrenal hyperplasia 2, autosomal dominant, somatic mutation",
      "ACTH-independent macronodular adrenal hyperplasia type 2",
      "AIMAH2",
      "ARMC5 Cushing syndrome due to macronodular adrenal hyperplasia",
      "Cushing syndrome due to macronodular adrenal hyperplasia caused by mutation in ARMC5",
      "primary macronodular adrenal hyperplasia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Any Cushing syndrome due to macronodular adrenal hyperplasia in which the cause of the disease is a mutation in the ARMC5 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10300,
      "label": "Cushing syndrome due to macronodular adrenal hyperplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        19976
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111622",
          "EFO:0009041",
          "GARD:0010824",
          "MEDGEN:923388",
          "MESH:C565662",
          "NANDO:2200353",
          "OMIMPS:219080",
          "Orphanet:189427",
          "SCTID:720459002",
          "UMLS:C2062388"
        ],
        "synonyms": [
          "ACTH-independent Cushing syndrome",
          "ACTH-independent macronodular adrenal hyperplasia",
          "primary bilateral macronodular adrenal hyperplasia",
          "ACTH-independent macronodular adrenocortical hyperplasia",
          "AIMAH",
          "MMAD",
          "adrenocorticotropic hormone-independent macronodular adrenal hyperplasia",
          "corticotropin-independent macronodular adrenal hyperplasia",
          "massive macronodular adrenocortical disease",
          "primary macronodular adrenal hyperplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A rare adrenal Cushing syndrome characterized by bilateral benign adrenal macronodules (>1 cm) that potentially produce autonomously variable levels of cortisol excess. Although in most cases are ACTH-independent, non-suppressed ACTH levels have been described."
      },
      "child_count": 6,
      "reference_id": "MONDO:0009049"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10300,
      "label": "Cushing syndrome due to macronodular adrenal hyperplasia"
    }
  ]
}