{
  "id": 14432,
  "label": "Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013400",
  "properties": {
    "xrefs": [
      "DOID:0050546",
      "GARD:0017033",
      "MEDGEN:462405",
      "MESH:C566130",
      "NCIT:C131422",
      "OMIM:613743",
      "Orphanet:168558",
      "UMLS:C3151055"
    ],
    "synonyms": [
      "XY sex reversal-adrenal failure",
      "XY sex reversal-adrenal failure syndrome",
      "adrenal insufficiency, congenital, with 46,XY SEX reversal, partial or complete",
      "adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete",
      "cholesterol side-chain cleavage deficiency",
      "p450scc deficiency",
      "46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency",
      "46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the <i>CYP11A1</i> gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels."
  },
  "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"
    },
    {
      "id": 19710,
      "label": "46,XY disorder of sex development",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4277
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0008538",
          "MEDGEN:414114",
          "MESH:D058490",
          "NANDO:2200393",
          "NCIT:C127171",
          "Orphanet:98085",
          "SCTID:8234004",
          "UMLS:C2751824"
        ],
        "synonyms": [
          "46,XY DSD",
          "46,XY differences of Sex development",
          "46,XY disorders of Sex development",
          "46, XY DSD",
          "46, XY disorders of sexual development",
          "46, XY female",
          "XY female"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Differences of sex development in individuals with 46,XY karyotype."
      },
      "child_count": 24,
      "reference_id": "MONDO:0020040"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 7151,
      "label": "adrenal gland disorder"
    },
    {
      "id": 19710,
      "label": "46,XY disorder of sex development"
    }
  ]
}