{
  "id": 9998,
  "label": "congenital lipoid adrenal hyperplasia due to STAR deficency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008725",
  "properties": {
    "xrefs": [
      "GARD:0001465",
      "MEDGEN:83341",
      "OMIM:201710",
      "Orphanet:90790",
      "SCTID:44231009",
      "UMLS:C0342474"
    ],
    "synonyms": [
      "CLAH",
      "lipoid adrenal hyperplasia",
      "LCAH",
      "adrenal hyperplasia 1",
      "congenital adrenal hyperplasia lipoid",
      "lipoid congenital adrenal hyperplasia",
      "lipoid hyperplasia, congenital, of adrenal cortex with Male pseudohermaphroditism"
    ],
    "categories": [
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "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"
    },
    {
      "id": 19578,
      "label": "inherited primary ovarian failure",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7067,
        16330,
        20362
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019294",
          "MEDGEN:443920",
          "OMIMPS:311360",
          "Orphanet:95710",
          "UMLS:C2930861"
        ],
        "synonyms": [
          "hereditary primary ovarian failure",
          "inherited POI",
          "inherited premature ovarian failure",
          "inherited primary ovarian insufficiency",
          "non-acquired premature ovarian failure"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 164,
      "reference_id": "MONDO:0019852"
    }
  ],
  "children": [
    {
      "id": 18154,
      "label": "classic congenital lipoid adrenal hyperplasia due to STAR deficency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9998
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021473",
          "MEDGEN:1842881",
          "Orphanet:325524",
          "UMLS:C5679869"
        ],
        "synonyms": [
          "classic CLAH"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017972"
    },
    {
      "id": 18155,
      "label": "non-classic congenital lipoid adrenal hyperplasia due to STAR deficency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9998
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021474",
          "MEDGEN:1842170",
          "Orphanet:325529",
          "UMLS:C5680948"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017973"
    }
  ],
  "roots": [
    {
      "id": 18518,
      "label": "congenital adrenal hyperplasia"
    },
    {
      "id": 19578,
      "label": "inherited primary ovarian failure"
    }
  ]
}