{
  "id": 11355,
  "label": "Mayer-Rokitansky-Kuster-Hauser syndrome type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010173",
  "properties": {
    "xrefs": [
      "DOID:0112178",
      "GARD:0004737",
      "ICD9:752.49",
      "MEDGEN:1797978",
      "OMIM:277000",
      "Orphanet:247775",
      "UMLS:C5566555"
    ],
    "synonyms": [
      "MRKH syndrome type 1",
      "Rokitansky sequence",
      "congenital absence of uterus and vagina",
      "MRKH anomaly",
      "MRKH syndrome",
      "Mayer-Rokitansky-KUSTER-Hauser syndrome",
      "Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH)",
      "Mayer-Rokitansky-Küster-Hauser syndrome type 1",
      "Mrk anomaly",
      "Mullerian aplasia/dysgenesis",
      "Mullerian dysgenesis",
      "Müllerian agenesis",
      "Rokitansky syndrome",
      "Von Mayer-Rokitansky-Kuster anomaly",
      "congenital absence of the uterus and vagina (CAUV)",
      "genital renal ear syndrome",
      "urogenital adysplasia",
      "uterus Bipartitus solidus Rudimentarius cum vagina Solida"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      }
    ],
    "definition": "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome, is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17995,
      "label": "Mayer-Rokitansky-Kuster-Hauser syndrome"
    }
  ]
}