{
  "id": 14671,
  "label": "chromosome 8q21.11 deletion syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013646",
  "properties": {
    "xrefs": [
      "DECIPHER:86",
      "DOID:0060425",
      "GARD:0017310",
      "MEDGEN:481861",
      "OMIM:614230",
      "Orphanet:284160",
      "SCTID:718615003",
      "UMLS:C3280231"
    ],
    "synonyms": [
      "8q21.11 microdeletion syndrome",
      "Del(8)(q21.11)",
      "chromosome 8q21.11 deletion syndrome",
      "chromosome 8q21.11 deletion syndrome, isolated cases",
      "deletion 8q21.11",
      "monosomy 8q21.11"
    ],
    "definition": "Heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies."
  },
  "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": 17326,
      "label": "partial deletion of the long arm of chromosome 8",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17298
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:208638",
          "MESH:C537828",
          "Orphanet:262065",
          "UMLS:C0795828",
          "icd11.foundation:653068448"
        ],
        "synonyms": [
          "partial deletion of chromosome 8q",
          "partial deletion of the long arm of chromosome type 8",
          "partial monosomy of chromosome 8q",
          "partial monosomy of the long arm of chromosome 8",
          "8q deletion",
          "8q monosomy",
          "chromosome 8q deletion",
          "deletion 8q",
          "monosomy 8q",
          "partial monosomy 8q"
        ],
        "definition": "Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8. 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 8q 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": 6,
      "reference_id": "MONDO:0016907"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 17326,
      "label": "partial deletion of the long arm of chromosome 8"
    }
  ]
}