{
  "id": 10000,
  "label": "congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008727",
  "properties": {
    "xrefs": [
      "GARD:0009152",
      "MEDGEN:452446",
      "MESH:C538236",
      "NANDO:1200398",
      "NANDO:2200371",
      "NCIT:C131088",
      "OMIM:201810",
      "Orphanet:90791",
      "SCTID:54470008",
      "UMLS:C0342471",
      "icd11.foundation:929626064"
    ],
    "synonyms": [
      "3-beta HSD deficiency",
      "CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency",
      "3-BETA-hydroxysteroid dehydrogenase, type II, deficiency OF",
      "3-Beta-HSD deficiency",
      "3-Beta-hydroxysteroid dehydrogenase deficiency",
      "3b-hydroxysteroid dehydrogenase deficiency",
      "HSD3B deficiency",
      "adrenal hyperplasia 2",
      "adrenal hyperplasia II",
      "adrenal hyperplasia, congenital, due to 3-BETA-hydroxysteroid dehydrogenase 2 deficiency",
      "adrenal hyperplasia, congenital, due to 3-Beta-hydroxysteroid dehydrogenase 2 deficiency",
      "type II 3-beta-hydroxysteroid dehydrogenase deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias."
  },
  "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"
    }
  ]
}