{
  "id": 9345,
  "label": "mullerian aplasia and hyperandrogenism",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008019",
  "properties": {
    "xrefs": [
      "DOID:0111526",
      "GARD:0017195",
      "MEDGEN:390686",
      "MESH:C567186",
      "NCIT:C120376",
      "NORD:1858",
      "OMIM:158330",
      "Orphanet:247768",
      "UMLS:C2675014"
    ],
    "synonyms": [
      "Mullerian duct failure and hyperandrogenism",
      "Müllerian duct failure and hyperandrogenism",
      "WNT4 Deficiency",
      "WNT4 deficiency",
      "mullerian aplasia and hyperandrogenism",
      "Müllerian aplasia and hyperandrogenism"
    ],
    "categories": [
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      }
    ],
    "definition": "Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence of underdevelopment of the uterus, and sometimes absence of underdevelopment of the vagina."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 16575,
      "label": "partial bilateral aplasia of the mullerian ducts",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19008
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020172",
          "MEDGEN:1843187",
          "Orphanet:180068",
          "UMLS:C5679589"
        ],
        "synonyms": [
          "incomplete bilateral aplasia of the Mullerian ducts",
          "incomplete bilateral aplasia of the Müllerian ducts",
          "partial bilateral aplasia of the Müllerian ducts"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0015830"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 16575,
      "label": "partial bilateral aplasia of the mullerian ducts"
    }
  ]
}