{
  "id": 14345,
  "label": "congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013310",
  "properties": {
    "xrefs": [
      "DOID:0080925",
      "GARD:0012664",
      "MEDGEN:348008",
      "NANDO:1200402",
      "NANDO:2200375",
      "NCIT:C174439",
      "OMIM:613571",
      "Orphanet:95699",
      "SCTID:715733000",
      "UMLS:C1860042",
      "icd11.foundation:497412536"
    ],
    "synonyms": [
      "POR deficiency",
      "PORD",
      "congenital adrenal hyperplasia due to cytochrome POR deficiency",
      "adrenal hyperplasia, congenital, due to cytochrome P450 oxidoreductase deficiency",
      "disordered steroidogenesis due to POR deficiency",
      "disordered steroidogenesis due to cytochrome P450 oxidoreductase",
      "disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 6772,
      "label": "reproductive system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:15",
          "EFO:0000512",
          "MEDGEN:61253",
          "NCIT:C4875",
          "SCTID:362968007",
          "UMLS:C0178829",
          "Wikipedia:Reproductive_system_disease"
        ],
        "synonyms": [
          "disease of reproductive system",
          "disease or disorder of reproductive system",
          "disorder of reproductive system",
          "genital disorders",
          "reproductive disease",
          "reproductive system disease",
          "reproductive system disease or disorder",
          "reproductive system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ],
        "definition": "A disease involving the reproductive system."
      },
      "child_count": 30,
      "reference_id": "MONDO:0005039"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 6772,
      "label": "reproductive system disorder"
    },
    {
      "id": 18518,
      "label": "congenital adrenal hyperplasia"
    }
  ]
}