{
  "id": 17995,
  "label": "Mayer-Rokitansky-Kuster-Hauser syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017771",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "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": [
    {
      "id": 11355,
      "label": "Mayer-Rokitansky-Kuster-Hauser syndrome type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17995
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010173"
    },
    {
      "id": 12117,
      "label": "Mayer-Rokitansky-Küster-Hauser syndrome type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17995
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010989"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16575,
      "label": "partial bilateral aplasia of the mullerian ducts"
    }
  ]
}