{
  "id": 11787,
  "label": "X-linked diffuse leiomyomatosis-Alport syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010641",
  "properties": {
    "xrefs": [
      "GARD:0002432",
      "MEDGEN:333429",
      "MESH:C537113",
      "OMIM:308940",
      "Orphanet:1018",
      "UMLS:C1839884"
    ],
    "synonyms": [
      "Xq22.3 microdeletion syndrome",
      "ATS-DL",
      "Alport syndrome and diffuse leiomyomatosis",
      "Alport syndrome with diffuse leiomyomatosis",
      "DL-ATS",
      "chromosome Xq22.3 centromeric deletion syndrome",
      "diffuse leiomyomatosis in Alport syndrome",
      "leiomyomatosis, diffuse, with Alport syndrome",
      "leiomyomatosis, esophageal and vulval, with nephropathy"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      }
    ],
    "definition": "A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 6948,
      "label": "kidney disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4253
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:557",
          "EFO:0003086",
          "ICD9:583.81",
          "MEDGEN:9635",
          "MESH:D007674",
          "NCIT:C3149",
          "SCTID:90708001",
          "UMLS:C0022658"
        ],
        "synonyms": [
          "disease of kidney",
          "disease or disorder of kidney",
          "disorder of kidney",
          "kidney disease",
          "kidney disease or disorder",
          "kidney disorder",
          "renal disease",
          "renal disorder",
          "nephropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A disease involving the kidney."
      },
      "child_count": 57,
      "reference_id": "MONDO:0005240"
    },
    {
      "id": 17410,
      "label": "partial deletion of the long arm of chromosome X",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17408
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1826028",
          "Orphanet:263756",
          "UMLS:C5679688"
        ],
        "synonyms": [
          "partial deletion of chromosome Xq",
          "partial deletion of the long arm of chromosome type X",
          "partial monosomy of chromosome Xq",
          "partial monosomy of the long arm of chromosome X"
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0017007"
    }
  ],
  "children": [
    {
      "id": 9223,
      "label": "leiomyoma of vulva and esophagus",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11787
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010097",
          "MEDGEN:320616",
          "MESH:C537006",
          "OMIM:150700",
          "UMLS:C1835488"
        ],
        "synonyms": [
          "leiomyoma of vulva and esophagus",
          "esophagogastric and vulvar leiomyomatosis",
          "leiomyomatosis, esophagogastric and vulvar"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007887"
    }
  ],
  "roots": [
    {
      "id": 6948,
      "label": "kidney disorder"
    },
    {
      "id": 17410,
      "label": "partial deletion of the long arm of chromosome X"
    }
  ]
}