{
  "id": 13904,
  "label": "chromosome 2q32-q33 deletion syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012864",
  "properties": {
    "xrefs": [
      "DOID:0060428",
      "GARD:0013206",
      "MEDGEN:436765",
      "MESH:C567350",
      "OMIM:612313",
      "Orphanet:251019",
      "Orphanet:576283",
      "SCTID:719659003",
      "UMLS:C2676739"
    ],
    "synonyms": [
      "Del(2)(q32)",
      "Del(2)(q32q33)",
      "chromosome 2q32-q33 deletion syndrome",
      "glass syndrome",
      "monosomy 2q32-q33",
      "monosomy 2q32q33",
      "2q32q33 microdeletion syndromes",
      "SAS",
      "SATB2 syndrome",
      "SATB2-associated syndrome",
      "glass"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17320,
      "label": "partial deletion of the long arm of chromosome 2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:162770",
          "MESH:C538315",
          "Orphanet:262010",
          "UMLS:C0795804",
          "icd11.foundation:754787315"
        ],
        "synonyms": [
          "partial deletion of chromosome 2q",
          "partial deletion of the long arm of chromosome type 2",
          "partial monosomy of chromosome 2q",
          "partial monosomy of the long arm of chromosome 2",
          "2q deletion",
          "2q monosomy",
          "chromosome 2q deletion",
          "deletion 2q",
          "monosomy 2q",
          "partial monosomy 2q"
        ],
        "definition": "Chromosome 2q 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 2. 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 2q 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": 9,
      "reference_id": "MONDO:0016901"
    },
    {
      "id": 23889,
      "label": "SATB2 associated disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24323
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022326",
          "Orphanet:576278"
        ],
        "synonyms": [
          "SAS",
          "SATB2 associated disorder",
          "SATB2-associated syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A syndromic intellectual disability disorder that is characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Most distinctive features are neurodevelopmental with invariably severely limited speech, cleft or high arched palate, dental anomalies (crowding, macrodontia, abnormal shape), and behavioral issues with or without bone or brain anomalies."
      },
      "child_count": 1,
      "reference_id": "MONDO:0100147"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17320,
      "label": "partial deletion of the long arm of chromosome 2"
    },
    {
      "id": 23889,
      "label": "SATB2 associated disorder"
    }
  ]
}