{
  "id": 23889,
  "label": "SATB2 associated disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100147",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 24323,
      "label": "autosomal dominant syndromic intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2961,
        23914
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant form of syndromic intellectual disability."
      },
      "child_count": 68,
      "reference_id": "MONDO:0100601"
    }
  ],
  "children": [
    {
      "id": 13904,
      "label": "chromosome 2q32-q33 deletion syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17320,
        23889
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012864"
    }
  ],
  "roots": [
    {
      "id": 24323,
      "label": "autosomal dominant syndromic intellectual disability"
    }
  ]
}