{
  "id": 16641,
  "label": "primary pigmented nodular adrenocortical disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015999",
  "properties": {
    "xrefs": [
      "DOID:0060280",
      "GARD:0010906",
      "MEDGEN:930501",
      "NCIT:C131196",
      "OMIMPS:610489",
      "Orphanet:189439",
      "SCTID:719274008",
      "UMLS:C4304832",
      "icd11.foundation:2003695246"
    ],
    "synonyms": [
      "PPNAD",
      "pigmented nodular adrenocortical disease",
      "pigmented nodular adrenocortical disease, primary",
      "primary pigmented nodular adrenal dysplasia"
    ],
    "categories": [
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "A form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "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": 7151,
      "label": "adrenal gland disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6875
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9553",
          "EFO:0005539",
          "ICD9:255",
          "ICD9:255.8",
          "ICD9:255.9",
          "MEDGEN:892577",
          "MESH:D000307",
          "NCIT:C26690",
          "SCTID:30171000",
          "UMLS:C4021794"
        ],
        "synonyms": [
          "adrenal gland disease",
          "adrenal gland disease or disorder",
          "adrenal gland diseases",
          "adrenal gland disorder",
          "adrenal gland disorders",
          "disease of adrenal gland",
          "disease or disorder of adrenal gland",
          "disorder of adrenal gland"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A disease involving the adrenal gland."
      },
      "child_count": 18,
      "reference_id": "MONDO:0005495"
    }
  ],
  "children": [
    {
      "id": 13553,
      "label": "pigmented nodular adrenocortical disease, primary, 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16641
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070547",
          "GARD:0015489",
          "MEDGEN:355843",
          "MESH:C566472",
          "OMIM:610475",
          "UMLS:C1864851"
        ],
        "synonyms": [
          "PDE11A primary pigmented nodular adrenocortical disease",
          "pigmented nodular adrenocortical disease, primary, 2",
          "pigmented nodular adrenocortical disease, primary, type 2",
          "primary pigmented nodular adrenocortical disease caused by mutation in PDE11A",
          "Cushing syndrome, adrenal, due to PPNAD2",
          "PPNAD2",
          "pigmented micronodular adrenocortical disease, primary, 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE11A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012505"
    },
    {
      "id": 13557,
      "label": "pigmented nodular adrenocortical disease, primary, 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16641
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070546",
          "GARD:0018620",
          "MEDGEN:400627",
          "MESH:C566469",
          "OMIM:610489",
          "UMLS:C1864846"
        ],
        "synonyms": [
          "PRKAR1A primary pigmented nodular adrenocortical disease",
          "pigmented nodular adrenocortical disease, primary, 1",
          "pigmented nodular adrenocortical disease, primary, type 1",
          "primary pigmented nodular adrenocortical disease caused by mutation in PRKAR1A",
          "Cushing syndrome, adrenal, due to PPNAD1",
          "PPNAD1",
          "adrenocortical nodular dysplasia, primary",
          "pigmented micronodular adrenocortical disease, primary, 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKAR1A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012509"
    },
    {
      "id": 14642,
      "label": "pigmented nodular adrenocortical disease, primary, 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16641
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070548",
          "GARD:0015769",
          "MEDGEN:481724",
          "OMIM:614190",
          "UMLS:C3280094"
        ],
        "synonyms": [
          "PDE8B primary pigmented nodular adrenocortical disease",
          "pigmented nodular adrenocortical disease, primary, 3",
          "pigmented nodular adrenocortical disease, primary, type 3",
          "primary pigmented nodular adrenocortical disease caused by mutation in PDE8B",
          "Cushing syndrome, adrenal, due to PPNAD3",
          "PPNAD3"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE8B gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013616"
    },
    {
      "id": 15361,
      "label": "pigmented nodular adrenocortical disease, primary, 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16641
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070549",
          "GARD:0016016",
          "MEDGEN:862862",
          "OMIM:615830",
          "UMLS:C4014425"
        ],
        "synonyms": [
          "Cushing syndrome, ACTH-independent adrenal, somatic",
          "PRKACA primary pigmented nodular adrenocortical disease",
          "pigmented nodular adrenocortical disease, primary, 4",
          "pigmented nodular adrenocortical disease, primary, type 4",
          "primary pigmented nodular adrenocortical disease caused by mutation in PRKACA",
          "ACTH-independent adrenal Cushing syndrome, somatic",
          "Cushing syndrome, adrenal, due to Ppnad4",
          "PPNAD4",
          "chromosome 19P13 Duplication syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKACA gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014359"
    },
    {
      "id": 25902,
      "label": "isolated primary pigmented nodular adrenocortical disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16641
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026991",
          "MEDGEN:1853165",
          "Orphanet:647772",
          "UMLS:C5816750"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958262"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 7151,
      "label": "adrenal gland disorder"
    }
  ]
}