{
  "id": 18686,
  "label": "1p35.2 microdeletion syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018697",
  "properties": {
    "xrefs": [
      "GARD:0021898",
      "MEDGEN:1807819",
      "Orphanet:456298",
      "UMLS:C5679992"
    ],
    "synonyms": [
      "Del(1)(p35.2)",
      "deletion 1p35.2",
      "monosomy 1p35.2"
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    },
    {
      "id": 17308,
      "label": "partial deletion of the short arm of chromosome 1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17291
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:208633",
          "MESH:C535591",
          "NCIT:C36501",
          "Orphanet:261857",
          "UMLS:C0795796",
          "icd11.foundation:1004815242"
        ],
        "synonyms": [
          "partial deletion of chromosome 1p",
          "partial deletion of the short arm of chromosome type 1",
          "partial monosomy of chromosome 1p",
          "partial monosomy of the short arm of chromosome 1",
          "1p deletion",
          "1p monosomy",
          "chromosome 1p deletion",
          "del(1p)",
          "deletion 1p",
          "loss of chromosome 1p",
          "monosomy 1p",
          "partial monosomy 1p"
        ],
        "definition": "Chromosome 1p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person."
      },
      "child_count": 5,
      "reference_id": "MONDO:0016883"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 17308,
      "label": "partial deletion of the short arm of chromosome 1"
    }
  ]
}