{
  "id": 13715,
  "label": "corticosteroid-binding globulin deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012675",
  "properties": {
    "xrefs": [
      "DOID:0090030",
      "GARD:0013101",
      "MEDGEN:343831",
      "OMIM:611489",
      "Orphanet:199247",
      "UMLS:C1852529"
    ],
    "synonyms": [
      "CBG deficiency",
      "Transcortin deficiency",
      "corticosteroid-binding globulin deficiency",
      "transcortin deficiency",
      "Cbg deficiency",
      "corticosteroid-binding globulin, elevated"
    ],
    "categories": [
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Corticosteroid-binding globulin deficiency is a genetic disorder characterized by extreme tiredness (fatigue), particularly after physical exertion, and low blood pressure (hypotension). Corticosteroid-binding globulin (CBG) is a protein primarily produced in the liver that attaches to cortisol, a hormone with numerous functions, including maintaining blood sugar levels, protecting the body from stress, and suppressing inflammation.When cortisol is needed in the body, CBG delivers the cortisol where it is needed and releases it. Signs and symptoms of CBG deficiency vary. While some individuals may experience no symptoms, others are found to have a fatty liver and chronic pain. Some people with CBG deficiency also have chronic fatigue syndrome. CGB deficiency is caused by mutations in the SERPINA6 gene. The SERPINA6 gene is commonly also referred to as the CBG gene. Both autosomal dominant and autosomal recessive inheritance have been reported.While there is still no cure, treatment options will depend on the type and severity of symptoms present and may involve several specialists."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": [],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 7151,
      "label": "adrenal gland disorder"
    }
  ]
}