{
  "id": 18057,
  "label": "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017839",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10001,
      "label": "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6772,
        18518
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 4,
      "reference_id": "MONDO:0008728"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10001,
      "label": "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency"
    }
  ]
}