{
  "id": 16575,
  "label": "partial bilateral aplasia of the mullerian ducts",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015830",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 19008,
      "label": "mullerian aplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0007100",
          "MEDGEN:98466",
          "MESH:C537371",
          "Orphanet:73217",
          "SCTID:253828000",
          "UMLS:C0431637"
        ],
        "synonyms": [
          "Mullerian duct failure",
          "Müllerian duct failure",
          "aplasia of the Mullerian ducts",
          "aplasia of the Müllerian ducts",
          "Müllerian aplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0019128"
    }
  ],
  "children": [
    {
      "id": 9345,
      "label": "mullerian aplasia and hyperandrogenism",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5714,
        16575
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008019"
    },
    {
      "id": 17995,
      "label": "Mayer-Rokitansky-Kuster-Hauser syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        16575
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112177",
          "GARD:0005445",
          "MEDGEN:140915",
          "MedDRA:10065148",
          "NCIT:C124853",
          "NORD:1412",
          "Orphanet:3109",
          "SCTID:8793008",
          "UMLS:C0431648"
        ],
        "synonyms": [
          "MRKH",
          "MRKH syndrome",
          "Mayer-Rokitansky-Küster-Hauser Syndrome",
          "Mullerian aplasia/dysgenesis",
          "Rokitansky Kuster Hauser syndrome",
          "Rokitansky syndrome",
          "Mayer-Rokitansky-Küster-Hauser syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ],
        "definition": "Spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations)."
      },
      "child_count": 4,
      "reference_id": "MONDO:0017771"
    }
  ],
  "roots": [
    {
      "id": 19008,
      "label": "mullerian aplasia"
    }
  ]
}