{
  "id": 10001,
  "label": "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008728",
  "properties": {
    "xrefs": [
      "GARD:0012665",
      "MEDGEN:903755",
      "MESH:C535979",
      "NANDO:1200399",
      "NANDO:2200374",
      "NCIT:C131087",
      "OMIM:201910",
      "Orphanet:90794",
      "SCTID:124221007",
      "SCTID:717261006",
      "UMLS:C4273964"
    ],
    "synonyms": [
      "21-OHD",
      "classic 21-OHD CAH",
      "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency",
      "21 hydroxylase deficiency",
      "21-hydroxylase deficiency",
      "CYP21 deficiency",
      "adrenal hyperplasia 3",
      "adrenal hyperplasia, congenital, due to 21-HYDROXYLASE deficiency",
      "adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency",
      "congenital adrenal hyperplasia 1",
      "congenital adrenal hyperplasia due to 21-hydroxylase deficiency",
      "hyperandrogenism, Nonclassic type, due to 21-Hydroxylase deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "The most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": [
    {
      "id": 18057,
      "label": "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10001
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021398",
          "MEDGEN:1826062",
          "Orphanet:315306",
          "UMLS:C5679896"
        ],
        "synonyms": [
          "classic 21-OHD CAH, salt wasting form"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017839"
    },
    {
      "id": 18058,
      "label": "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10001
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021399",
          "MEDGEN:1826061",
          "Orphanet:315311",
          "UMLS:C5679895"
        ],
        "synonyms": [
          "classic 21-OHD CAH, simple virilizing form"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017840"
    }
  ],
  "roots": [
    {
      "id": 6772,
      "label": "reproductive system disorder"
    },
    {
      "id": 18518,
      "label": "congenital adrenal hyperplasia"
    }
  ]
}