{
  "id": 17127,
  "label": "8p23.1 microdeletion syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016658",
  "properties": {
    "xrefs": [
      "DECIPHER:39",
      "GARD:0003769",
      "MEDGEN:419458",
      "MESH:C537827",
      "Orphanet:251071",
      "SCTID:716381003",
      "UMLS:C2931638"
    ],
    "synonyms": [
      "Del(8)(p23.1)",
      "monosomy 8p23.1",
      "8p23.1 deletion",
      "chromosome 8p23.1 deletion",
      "deletion 8p23.1"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": 17314,
      "label": "partial deletion of the short arm of chromosome 8",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17298
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:444105",
          "MESH:C537826",
          "Orphanet:261920",
          "UMLS:C2931635",
          "icd11.foundation:635585868"
        ],
        "synonyms": [
          "partial deletion of chromosome 8p",
          "partial deletion of the short arm of chromosome type 8",
          "partial monosomy of chromosome 8p",
          "partial monosomy of the short arm of chromosome 8",
          "8p deletion",
          "8p monosomy",
          "chromosome 8p deletion",
          "deletion 8p",
          "monosomy 8p",
          "partial monosomy 8p"
        ],
        "definition": "Chromosome 8p deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person."
      },
      "child_count": 2,
      "reference_id": "MONDO:0016890"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 17314,
      "label": "partial deletion of the short arm of chromosome 8"
    }
  ]
}