{
  "id": 16604,
  "label": "adrenogenital syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015898",
  "properties": {
    "xrefs": [
      "GARD:0020226",
      "ICD9:255.2",
      "MEDGEN:86215",
      "MESH:D047808",
      "MedDRA:10061630",
      "Orphanet:181412",
      "SCTID:267395000",
      "UMLS:C0302280",
      "icd11.foundation:131153029"
    ],
    "synonyms": [
      "adrenogenital disorder",
      "adrenogenital syndrome",
      "androgenital syndrome",
      "congenital adrenal hyperplasia"
    ],
    "categories": [
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Abnormal sex differentiation or congenital disorders of sex development caused by abnormal levels of steroid hormones expressed by the gonads or the adrenal glands, such as in congenital adrenal hyperplasia and adrenal cortex neoplasms. Due to abnormal steroid biosynthesis, clinical features include virilism in females; feminization in males; or precocious sexual development in children."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "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"
    },
    {
      "id": 23508,
      "label": "steroid metabolism disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6795
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:541265",
          "SCTID:28710006",
          "UMLS:C0268283"
        ],
        "synonyms": [
          "disorder of steroid metabolic process",
          "disorder of steroid metabolism",
          "steroid metabolic process disease",
          "steroid metabolism disease"
        ],
        "definition": "A disease that has its basis in the disruption of steroid metabolic process."
      },
      "child_count": 4,
      "reference_id": "MONDO:0045012"
    }
  ],
  "children": [
    {
      "id": 2765,
      "label": "cortisone reductase deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4594,
        6772,
        16604
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090139",
          "GARD:0009882",
          "ICD9:277.6",
          "MEDGEN:266223",
          "MESH:C536447",
          "OMIMPS:604931",
          "Orphanet:168588",
          "SCTID:124138004",
          "UMLS:C1291245"
        ],
        "synonyms": [
          "11-beta-hydroxysteroid dehydrogenase deficiency type 1",
          "deficiency of (R)-20-hydroxysteroid dehydrogenase",
          "deficiency of cortisone reductase",
          "hyperandrogenism due to cortisone reductase deficiency",
          "HSD 11B1 deficiency",
          "11-alpha beta-hydroxysteroid dehydrogenase type I deficiency of"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via 11beta-HSD1. The resulting lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in childhood with precocious pseudopuberty and females presenting in adolescence and early adulthood with hirsutism, oligoamenorrhea, and infertility."
      },
      "child_count": 6,
      "reference_id": "MONDO:0000193"
    },
    {
      "id": 15423,
      "label": "glucocorticoid resistance",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4594,
        16604
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002499",
          "MEDGEN:333960",
          "MESH:C564221",
          "NANDO:2200358",
          "OMIM:615962",
          "Orphanet:786",
          "UMLS:C1841972",
          "icd11.foundation:125216923"
        ],
        "synonyms": [
          "GCCR",
          "Gccr deficiency",
          "Gcr deficiency",
          "Grl deficiency",
          "cortisol resistance from glucocorticoid receptor defect",
          "glucocorticoid receptor deficiency",
          "glucocorticoid resistance, generalised",
          "glucocorticoid resistance, generalized"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014421"
    },
    {
      "id": 18518,
      "label": "congenital adrenal hyperplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7177,
        16074,
        16330,
        16604
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050811",
          "GARD:0001467",
          "ICD9:255.2",
          "MEDGEN:7900",
          "MESH:D000312",
          "MedDRA:10010323",
          "NANDO:1200396",
          "NANDO:1200397",
          "NANDO:2100134",
          "NANDO:2200370",
          "NCIT:C34360",
          "NORD:992",
          "Orphanet:418",
          "SCTID:237751000",
          "UMLS:C0001627",
          "icd11.foundation:172733763"
        ],
        "synonyms": [
          "adrenal hyperplasia",
          "adrenogenital disorder",
          "adrenogenital syndrome",
          "CAH",
          "adrenal hyperplasia, congenital",
          "congenital adrenal gland hyperplasia",
          "congenital lipoid adrenal hyperplasia",
          "lipoid CAH"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations, depending of the type and the severity of the disease."
      },
      "child_count": 32,
      "reference_id": "MONDO:0018479"
    },
    {
      "id": 23518,
      "label": "acquired adrenogenital syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7996,
        16604
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025933",
          "MEDGEN:536747",
          "SCTID:190512008",
          "UMLS:C0237971",
          "icd11.foundation:1228689964"
        ],
        "synonyms": [
          "acquired adrenogenital syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An instance of adrenogenital syndrome that is acquired during the lifetime of the individual."
      },
      "child_count": 0,
      "reference_id": "MONDO:0045023"
    }
  ],
  "roots": [
    {
      "id": 7151,
      "label": "adrenal gland disorder"
    },
    {
      "id": 23508,
      "label": "steroid metabolism disease"
    }
  ]
}