{
  "id": 13048,
  "label": "8q22.1 microdeletion syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011977",
  "properties": {
    "xrefs": [
      "GARD:0004722",
      "MEDGEN:334165",
      "MESH:C536110",
      "OMIM:608156",
      "Orphanet:178303",
      "SCTID:719664004",
      "UMLS:C1842464"
    ],
    "synonyms": [
      "Nablus mask-like facial syndrome",
      "monosomy 8q22.1",
      "NABLUS mask-like facial syndrome",
      "NMLFS",
      "chromosome 8Q22.1 deletion syndrome"
    ],
    "definition": "The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019833",
          "MEDGEN:1842829",
          "Orphanet:102285",
          "UMLS:C5680373"
        ],
        "synonyms": [
          "MCA without intellectual disability",
          "multiple congenital anomalies without intellectual disability with or without dysmorphism"
        ]
      },
      "child_count": 168,
      "reference_id": "MONDO:0015161"
    },
    {
      "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": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    },
    {
      "id": 17326,
      "label": "partial deletion of the long arm of chromosome 8"
    }
  ]
}