{
  "id": 10300,
  "label": "Cushing syndrome due to macronodular adrenal hyperplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009049",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 19976,
      "label": "ACTH-independent Cushing syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        25672
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019700",
          "MEDGEN:575037",
          "Orphanet:647758",
          "Orphanet:99893",
          "UMLS:C0342443",
          "icd11.foundation:652536990"
        ],
        "synonyms": [
          "adrenal Cushing syndrome",
          "adrenocorticotropic hormone-independent Cushing syndrome",
          "corticotropin-independent Cushing syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A group of endogenous Cushing syndrome  that may result from excess secretion of cortisol by either a unilateral and benign, or malignant adrenocortical tumor, or nodular adrenocortical disease."
      },
      "child_count": 3,
      "reference_id": "MONDO:0020529"
    }
  ],
  "children": [
    {
      "id": 15418,
      "label": "ACTH-independent macronodular adrenal hyperplasia 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10300
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014416"
    },
    {
      "id": 20139,
      "label": "ACTH-independent macronodular adrenal hyperplasia 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10300
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111623",
          "GARD:0025230",
          "MEDGEN:347456",
          "OMIM:219080",
          "UMLS:C1857451"
        ],
        "synonyms": [
          "ACTH-independent macronodular adrenal hyperplasia",
          "ACTH-independent macronodular adrenal hyperplasia 1",
          "ACTH-independent macronodular adrenal hyperplasia, Somatic mutation",
          "ACTH-independent macronodular adrenocortical hyperplasia",
          "AIMAH1",
          "Cushing syndrome, adrenal, due to AIMAH",
          "adrenocorticotropic hormone-independent macronodular adrenal hyperplasia",
          "corticotropin-independent 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 GNAS1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020735"
    },
    {
      "id": 24692,
      "label": "ACTH-independent macronodular adrenal hyperplasia 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10300
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027386",
          "MEDGEN:1875015",
          "OMIM:620990",
          "UMLS:C5975485"
        ],
        "synonyms": [
          "ACTH-independent macronodular adrenal hyperplasia-3",
          "AIMAH3",
          "Cushing syndrome, food-dependent"
        ],
        "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 KDM1A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0700299"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 19976,
      "label": "ACTH-independent Cushing syndrome"
    }
  ]
}