{
  "id": 24514,
  "label": "distal chromosome 18q deletion syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700119",
  "properties": {
    "xrefs": [
      "GARD:0026364",
      "MEDGEN:1382173",
      "UMLS:C4329736"
    ],
    "synonyms": [
      "distal 18q deletion",
      "distal 18q deletion syndrome",
      "distal 18q-"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Distal chromosome 18q deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material at the end of the long arm (q) of chromosome 18."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 12269,
      "label": "chromosome 18q deletion syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        17305
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060407",
          "GARD:0020837",
          "ICD9:758.39",
          "MEDGEN:96605",
          "MESH:C536580",
          "NANDO:1200579",
          "NANDO:2201291",
          "NCIT:C84522",
          "NORD:946",
          "OMIM:601808",
          "Orphanet:1600",
          "Orphanet:262146",
          "SCTID:270889005",
          "UMLS:C0432443",
          "icd11.foundation:1121828795"
        ],
        "synonyms": [
          "18Q syndrome",
          "18q deletion syndrome",
          "18q-syndrome",
          "Chromosome 18q- Syndrome",
          "chromosome 18q deletion syndrome",
          "deletion 18q",
          "deletion 18q syndrome",
          "monosomy type 18q",
          "partial deletion of chromosome 18q",
          "partial deletion of the long arm of chromosome 18",
          "partial deletion of the long arm of chromosome type 18",
          "partial monosomy of chromosome 18q",
          "partial monosomy of the long arm of chromosome 18",
          "proximal 18q deletion",
          "proximal 18q deletion syndrome",
          "proximal 18q-",
          "proximal chromosome 18q deletion syndrome",
          "18Q- syndrome",
          "chromosome 18Q- syndrome",
          "chromosome 18q deletion",
          "monosomy 18q syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts."
      },
      "child_count": 4,
      "reference_id": "MONDO:0011147"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 12269,
      "label": "chromosome 18q deletion syndrome"
    }
  ]
}