{
  "id": 12117,
  "label": "Mayer-Rokitansky-Küster-Hauser syndrome type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010989",
  "properties": {
    "xrefs": [
      "DOID:0112179",
      "GARD:0005513",
      "MEDGEN:931237",
      "OMIM:601076",
      "Orphanet:2578",
      "SCTID:717705004",
      "UMLS:C4305568",
      "icd11.foundation:1521808255"
    ],
    "synonyms": [
      "MRKH syndrome type 2",
      "MURCS association",
      "Mayer-Rokitansky-Küster-Hauser syndrome type 2",
      "Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome",
      "atypical MRKH syndrome",
      "Klippel-Feil deformity, conductive deafness, and absent vagina",
      "MRKH, type 2",
      "MULLERIAN duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies",
      "MURCS",
      "Mayer-Rokitansky-Kuster-Hauser syndrome, type 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      }
    ],
    "definition": "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome, is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MCllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used."
  },
  "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"
    }
  ]
}