{
  "id": 14103,
  "label": "premature ovarian failure 7",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013065",
  "properties": {
    "xrefs": [
      "DOID:0080864",
      "GARD:0024899",
      "MEDGEN:414115",
      "MESH:C567838",
      "OMIM:612964",
      "UMLS:C2751825"
    ],
    "synonyms": [
      "adrenocortical insufficiency",
      "NR5A1 primary ovarian failure",
      "premature ovarian failure 7",
      "premature ovarian failure type 7",
      "primary ovarian failure caused by mutation in NR5A1",
      "Pof7",
      "adrenal insufficiency, Nr5A1-related"
    ],
    "categories": [
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Any primary ovarian failure in which the cause of the disease is a mutation in the NR5A1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    },
    {
      "id": 29369,
      "label": "NR5A1-related sex development disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6772
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "NR5A1-related sex development disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ],
        "definition": "A reproductive system disorder caused by a variation in the NR5A1 gene, and characterized by varying phenotypes, including partial or complete gonadal dysgenesis, ambiguous genitalia, and spermatogenic failure in the male, and premature ovarian failure and ovarian dysgenesis in the female."
      },
      "child_count": 8,
      "reference_id": "MONDO:1060211"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19578,
      "label": "inherited primary ovarian failure"
    },
    {
      "id": 29369,
      "label": "NR5A1-related sex development disorder"
    }
  ]
}